This past week was a big week for us. Last Monday I got a call from Dempsey's genetic counselor saying that his results from the Exome Sequencing came back and she wanted to set up an appointment with us and the Geneticist for the next day to discuss the results. I missed the call and as soon as I realized that I had a message from her, I freaked out. It was Nick's first day of his sub-internship (long and important days at the hospital for school) and I wasn't sure what time he'd be available, if at all, to schedule the appointment. So I was frantically trying to get ahold of him to let him know that results came in. We've been eagerly waiting for this call (it had been about 11 weeks since we sent the test and were told it takes only 6-8 weeks to get results). I was able to get in touch with both Nick and the genetic counselor to set up the appointment. While talking to the counselor, she informed me that a diagnosis has been confirmed and asked if I wanted to know what it was over the phone so that we could research it that night and be prepared with questions to ask the next day. I wanted to know as soon as possible. She started off by saying that it is incredibly rare and only around 100 people in the world have been diagnosed with it. Then she told me that Dempsey has has been diagnosed with something called KBG Syndrome. It was strange hearing this. On one hand, I was extremely relieved to have something to call it, to get that diagnosis, to explain all of the peculiar things about Dempsey. On the other hand, I had no idea what it meant. I had never heard of KBG Syndrome, most people and realistically, most doctors have never heard of KBG Syndrome. I wasn't entirely sure how to respond. I could tell that she was being professional and cautious? (not sure if that is the word I'm looking for) when she told me the news because it's great to have a diagnosis but it is also hard telling a parent that their child's life (and therefore their own) is going to be completely different than they ever imaged. Since I literally knew nothing about it other than what I know about Dempsey's current symptoms, I remember saying things like, "Great!" on the phone when she walked me through some general info. I just didn't know how to respond. I was taking frantic notes of everything she was saying. After I hung up, I called Nick right away, even before doing any research about KBG Syndrome. He didn't answer so I left a message letting him know that I know the diagnosis but I didn't want to tell him what it was yet because I didn't want to distract him on his first day of this important month for his schooling. In the meantime, I had a chance to look up KBG Syndrome The very first thing I read was the page that I previously linked which is a general overview of the syndrome. There were some feelings of relief (like learning those affected have a normal life expectancy). But I was crushed to see that one of the main symptoms is intellectual disability. Honestly, it is still super hard for me to accept and I get emotional when I start to think about it (including now). After I read that overview I just sat in our bed and held Dempsey and cried.
Nick called just minutes later and of course, wanted to know the diagnosis right away. I gave him a quick recap of what I learned and we both had a ton of questions in mind for the doctor. We were looking forward to our appointment the next day. That night was hard on us both, particularly me. We spent the evening researching more about the syndrome and reading stories about people with KBG Syndrome. I know those stories were supposed to help show that others went through the same thing so we aren't alone and that some people with KBG can live a relatively normal life. But it it made me feel worse. We had just barely learned the news after all. The next morning, I took Dempsey to his Cardiology appointment at the Children's Hospital in Broomfield and then we headed to the main campus in Aurora that afternoon to meet up with Nick for his Genetics appointment.
What We've Learned About KBG Syndrome
Here are many of the questions that we asked the Geneticist and their answers:
1. How confident are you with the Diagnosis? How rare is it? What is it?
Very confident. The Exome Sequencing test found the mutation in the same exon and chromosome location as other individuals with KBG Syndrome. In addition, many of Dempsey's symptoms match those associated with KBG Syndrome.
KBG Syndrome is extremely rare. Only around 100-200 people have been diagnosed worldwide. The Geneticist said that most of Dempsey's doctors will likely not have heard of it so we will have to teach them and trek through a lot of the unknown together.
They also explained that KBG is a change to a specific exon on Chromosome 16. Each mutation is in a different location on that specific exon, but people with a change there have the similar symptoms found in KBG syndrome. The specific gene that is mutated in Dempsey would typically code for a protein that is involved in different functions throughout the body, which is why Dempsey has so many different findings in places all around his body.
2. How did Dempsey get KBG Syndrome? Did we give it to him or cause it in any way? What are the chances that our other children will get it as well? If Dempsey can have children, what are the chances that he will pass it on?
The mutation was sporadic which means that it is unique to Dempsey. Nick and I did not have the mutation associated with KBG ourselves and there is nothing that we could have done to prevent it. The chances that we will have another child with KGB syndrome is 1%, which is higher than the rest of the population simply because we already have a child with KBG Syndrome. KBG is dominant so if Dempsey has children, there is a 50% chance of him passing it on.
3. Can you give us any information about the range of mental disability of those with KBG Syndrome? Are there any affected individuals that don't have mental retardation/disability?
There is definitely a range. A majority of those with KBG Syndrome experience some sort of intellectual delay/disability (mild to moderate, which is comparable to Down Syndrome). There are some individuals with KBG Syndrome that have no or minor mental disability.
Although the general location of the mutation is the same and allows us to get the diagnosis, Dempsey's exact mutation is not the same as anyone else with KBG Syndrome (my guess is that no 2 individuals have the exact same mutation, we didn't clarify that with the doctor). That's why there is variation to the symptoms and a scale of intellectual disability. We won't know where Dempsey will be on that scale. For example, one study that looked at a subset of people with KBG Syndrome reported that none of them were premature or showed signs of something being wrong during the pregnancy. Both of those are already different for Dempsey, as he was extra small during pregnancy and came 7 weeks early. Who knows what else will be different, for better or worse.
4. We asked the same question for Autism/behavioral and emotional problems.
Pretty much the same answer. There are some without those issues, but a majority have them to some extent. From a private group of other KBG patients/caregivers, we learned that many children have issues such as aggressive outbursts, excessive shouting and crying, meltdowns, slow at daily tasks, easily distracted, etc.
5. Are there any increased health risks associated with KBG Syndrome?
Seizures and heart issues were the main ones. The Geneticist informed us that around 50% of people with KBG syndrome experience seizures and it is possible that they could start at any point for Dempsey. She recommended that we reconnect with the Neurologist now that we have a diagnosis and know that he is at an increased risk for seizures. Hearing loss is another thing that we need to look out for. Dempsey will follow up with an Audiologist as well. His reflux likely relates as well- he will see an ENT to check for palate issues.
Those with KBG are reported to get sick more often and when sick, the severity is worse.
We will continue to work with physical and occupational therapists to help with physical delays and challenges.
6. Can we get more information about the size of people with KBG Syndrome? Will he look like he has dwarfism?
He will not be quite as small as those with dwarfism but will probably be a few inches shorter than the average male height. He will likely continue to have his shorter/disproportionate long arm and legs bones. Skeletal issues are common so he will see an Orthopedic doctor.
7. Is there a standard treatment plan for those with KBG Syndrome?
No. It is a treat as needed syndrome. If he has seizures, he will get treated from there. If he has dental issues (also very common), he will get treatment as needed. And so on. Some families choose to use growth hormones as well.
8. By having this diagnosis, will Dempsey qualify for disability insurance?
We will need to work with a social worker for more information on that.
9. What are some of the mistakes that parents with a special needs child makes?
Missing doctor's appointments and not taking therapy seriously. They also stressed the importance to let each parent process or grieve the news as they see fit, and be comfortable with however the other is responding.
10. What is our best resource?
Since it is so rare, there is not a ton of attention given to KBG Syndrome. Our best resources are other caregivers of those with KBG Syndrome, those with KBG Syndrome and the KBG Foundation.
Nick and I have looked at the KBG Foundation site and Facebook page a lot since we learned Dempsey's diagnosis. Here are some helpful infographics from the site:
Some of Our Feelings
Phew. Okay, I feel like I need to document some of my feelings while it is still fresh. I always debate whether or not I should post this part. We don't post it for sympathy, though we have appreciated the kind words that we've received more than you know. I think I ultimately end up posting it because I have benefitted so much from reading other's honest feelings and opinions while going through their unique trials. I have a few specific posts in mind from friends or people I don't even know that have opened my mind so much. Hopefully, one day I will read this and realize how much I have matured and adapted from when I wrote this haha. Because this will be kind of a random jumble of irrational thoughts.
I will start by saying how incredibly grateful I am that we have a diagnosis. One of my biggest fears was not getting an answer. My heart breaks for those out there still waiting for a diagnosis and I understand that people have had to wait so much longer. We are so lucky to have a better idea of what to expect for Dempsey at only 10 months. The reality is, he has KBG Syndrome. Not finding the mutation right now would not change that fact so the sooner we know, the better. We have the rare opportunity to make sure we are extra diligent with physical and occupational therapies. We are so lucky to know that we should be prepared and informed on what to do if Dempsey has a seizure because the diagnosis has increased our awareness. In the last year, we have already grown so much and have become much more empathic to children, adults, and parents of children with special needs of any kind.
And although I realize that having a diagnosis is a major blessing, I am not perfect. I still have feelings of frustration and anger. I feel extremely overwhelmed. I get lost in thinking about the future even when I know I need to live in the moment. I can't help but think that Dempsey is going to get made fun of because he looks and acts different. And for whatever reason, I have a really hard time thinking that Dempsey might be in special ed. I see others with kids or pregnant with new little ones and feel jealous that their kids will be "normal." I know that parenting is not easy for anyone, regardless of whether or not they have a genetic syndrome. I know that people come from the best place when they try to reassure us that, "well no-one knows what to expect from their kids." We found that people would say that to us a lot when we would explain why we want a diagnosis. I get it, I really do. Every kid has strengths and weaknesses/challenges and no parent knows what those will be. But it's not the same. Dempsey's body has a mutation. With almost any mutation, the odds of an intellectual disability or odds of health risks are greater than the average person. Sometimes I just want to say, "Would you like to switch the odds of your kid having a disability/health issues with the odds of mine?" My guess is that the answer is no, which is why it's not the same. But I fully understand that no-one ever says that to make me feel worse or more frustrated. It is a thoughtful attempt to make us feel better. Who knows, Dempsey might be in the smaller group of those with KBG Syndrome that don't have intellectual, behavioral or emotional problems and that is definitely something that we can hope and pray for. However throughout the last year, Nick and I have kind of learned that we like to mentally prepare for the worst (even back when we learned that the ultrasound measurements were off). That approach can be both a good and bad thing and even still, never fully prepares us for surprising news.
Nick gave me a priesthood blessing back when I was pregnant with Dempsey and the things we felt from that blessing have been with us a lot through this whole thing. We always felt that Dempsey was going to be such a blessing to other's lives. And in Dempsey's baby blessing, Nick felt that Dempsey's mission in this life is special. And because of that, until the official diagnosis, I imagined that Dempsey would have some physical challenges and that he might look a little different but that he wouldn't have any major social or any intellectual challenges. I liked to think that he would use his physical changes to relate to or get to know people. I pictured him having lots of friends in school. I think that's why those possible symptoms are the ones I have the hardest time with. I am going to try my hardest to live in the moment and not think about what the future might look like for Dempsey, because we don't know. I'm going to enjoy his happy smiles now while he gives them so freely. I'm not going to wish this time away. Dempsey has the funnest personality and I want to enjoy every minute of it. I've mentioned it in a previous post but the other thing that we felt so strongly when I was pregnant was how excited Dempsey was to come join our family. He was up in Heaven eagerly waiting to get his body, even though he knew he would have these challenges. Heavenly Father trusted us with this special spirit. Nick and I know that Dempsey's spirit is wayyyy better than our own and he was sent to us to help improve us. We have so much to learn from him, but have already received countless blessings from him joining our family. I can't imagine going through any of this without religion and a better understanding of our purpose in this life. I am so great for the gospel. We love Dempsey so much and know that our Heavenly Father will help us and guide us along the way. We are so grateful He picked us to raise this amazing little human and we can't wait to see Dempsey's journey.
Happy Father's Day! I put this together as a gift for Nick on his first Father's Day. He is the sweetest Daddy to Dempsey and these are just a few of my favorite captured moments.
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In our last Genetics update, we mentioned that the doctor said that Dempsey has a genetic syndrome and we started the process to get a diagnosis. She had a list of 5 syndromes that she felt matched Dempsey's symptoms, though none were a perfect match (they rarely are). Of the 5 syndromes that we were testing, she thought that Noonan Syndrome seemed the most likely and after doing my own research, I was pretty sure that the test for Noonan was going to come back positive. After several weeks of waiting, we got the results. Surprisingly, the first round of tests came back nondiagnostic, which means that the 5 syndromes that they suspected all came back negative, including Noonan Syndrome. Nick & I were actually pretty frustrated. It's hard knowing that the Geneticists strongly believes he has a genetic syndrome but not knowing the diagnosis. We desperately want to know what kinds of things we can expect for Dempsey based on others with the same syndrome. We also want to know what the chances are of us having another child with the same syndrome (because honestly, we don't think we can re-live the last year again). And unfortunately, we won't know those chances until we have an actual diagnosis (they need to know what to look for in our DNA). On the other hand, pretty much all of the specific syndromes that we tested for had some scary health issues/mental disabilities so there was also a sense of relief that the results came back negative.
Dempsey's Geneticist and Genetic Counselor didn't have an idea of which syndrome to test next based on his random assortment of symptoms so the next step is a huge test know as Exome Sequencing. Exome sequencing basically looks at a bunch of Dempsey's genes and tries to find a mutation or something that would give us a more definitive clue for his diagnosis. They gave us this Frequently Asked Questions PDF about it ("Whole exome sequencing (WES) targets the protein-coding regions (exons) of the approximately 20,000 genes in the genome (the exam)."). It took a couple of weeks to get approval from the hospital board for this test but when it got approved, we were able to meet with the Genetic Counselor and talk about the process and give our consent.
The test provides a definitive diagnosis in 20-50% of patients so it's very possible we won't get a diagnosis yet. If it comes back negative, they will likely do the test again but unfortunately, they wait 1-3 years in-between testing (which isn't great when we know we want to have more kids but won't know the chances of having another baby with the same syndrome). The test requires DNA from both parents so Nick and I got our blood drawn at Children's Hospital as well. We are a couple of weeks into our 6-8 week wait for results. Fingers crossed we get some answers!
Nick & I getting our blood drawn for the exome sequencing
Quick Update On Everything Else
Dempsey is doing awesome! He is (usually) the happiest little guy and growing up too fast! He is about a week away from being 9 months! At his doctor's appointment last week, he weighed 13 lbs 14 ounces and was almost 25 inches long (so still definitely on the small side but making progress on his own growth chart). His reflux is still going strong and not a day goes by that he isn't covered in spit up but any pain associated with the reflux is being managed by medicine. He recently got cleared by the Neurologist so that's one specialist we can cross off the list! The grade 1 clots in his brain are not a concern and he will just need another MRI & EEG around age 2 or 3. We won't know if there are any learning/mental disabilities until we can evaluate his behavior as he gets older. He has a procedure scheduled in July to fix his hypospadias and get circumcised. He will get put under anesthesia for that and I am not looking forward to it and the recovery! We also have an appointment ahead to follow up on Dempsey's remaining heart murmur. He still can't open his eyes all the way but he seems to be able to see things around him. There is some concern about his "functional vision" (depth perception, peripheral vision, etc) so we are planning on scheduling another appointment with an Ophthalmologist now that we've moved back up to the Denver area. His Ophthalmologist in Colorado Springs believes he probably won't ever be able to fully open his eyes without intervention. He recommends a surgery that connects other muscles to his eyelids but thinks we should wait until age 6 or 7 once the tissues have a chance to develop. Dempsey's Physical/Occupational Therapists and other specialists think that we should get a second opinion on when that surgery should take place. Overall, Dempsey is improving and doing really well. We are so grateful that this little nugget joined our family and has given us the opportunity to see so many blessings in our lives. As always, we will keep you updated as we learn more!
Dempsey has already been home for 3 months!! Our little 5-month old has brought so much joy (& tears) to our little family. Though we don't have a ton of new information to share, we have gone to A LOT of doctor's appointments over the last 3 months and wanted to update everyone on how Dempsey is doing and how life has been with him home.
We also want to thank everyone for your kind words, thoughts, and prayers after our last post. As I was writing it, I told Nick that mayyybe 1 or 2 people might read it so we were completely shocked by how many of you read it and sent your love. It's been a hard year for us and the challenges associated with Dempsey are not over but it is so encouraging to have such great people in our lives.
Life at home
When Dempsey came home from his second stay in the NICU at the very end of November, he was sent home on oxygen (fairly common among NICU babies). We had a large home oxygen tank in our apartment that had an extra long tube that allowed us to carry him around. We also had several portable tanks that came with a little backpack for traveling. Because Dempsey still has reflux episodes, he was also sent home with a hospital grade pulse oximeter. This allows us to monitor his oxygen saturation levels and heart rate at home. The idea was that if Dempsey had airway-blocking reflux, we would be alerted and could help him. THE PULSE OX IS OUR BEST FRIEND. Unfortunately, even with the pulse ox we were still too scared to sleep while he was sleeping. I had a lot of anxiety for the nighttime and kept getting the feeling that something terrible would happen. I was so afraid that the pulse ox alarm wasn't going to be loud enough to wake me (even though we have it turned up to full volume). So for the first several weeks after Dempsey came home, there was someone awake with him around the clock. On most nights, Nick & I would split the night in half (he would stay awake to keep an eye on Dempsey while I slept and then we would switch). This only worked while Nick was off of school in December. To help us stay awake, the person with Dempsey would stay in the living room with all of the lights & TV on while the other slept in the bedroom. We also had a ton of help at this point from family members. All of our parents would take turns visiting to help with 3 hour shifts at night. In the first 1-2 months that he was home, he still had frequent airway-blocking reflux but he was slowly learning how to handle it better and protect his airway on his own. Since he wore his pulse ox at all hours, we were able to catch it early and help clear his airway if needed. After working with his doctors (more on that later), now he can typically breathe through the reflux and only occasionally requires help (just last week he had a pretty scary moment where he had a really hard time breathing- one of our favorite baby items has been the NoseFrida to help clear the formula/mucus). In the last month, we started using the pulse ox only at night (so unfortunately, I don't really nap because he often falls asleep during the day without the pulse ox on and I am still not comfortable sleeping while he sleeps without it). Feedings require a little extra time/attention as well because of the reflux. We have to make sure to burp him frequently and then hold him upright for 30ish minutes after each feeding. And with how often babies eat, the time we spend holding him upright really adds up! And then the frustrating part is no matter how much we hold him upright or try and keep him from throwing up, he usually ends up throwing up multiple times between feeds anyways. So we end up soaked and smelly.
Dempsey's pulse ox/our best friend (Nick is reading The Nazi Doctors in case you were wondering about that...).
Here you can see Dempsey's large home oxygen tank on the right and a bunch of portable oxygen tanks by the dresser.
The frustrations of the oxygen tube. We were constantly adjusting and fixing it.
After clearing his nose
Sleepy Nick after staying up for his turn watching Dempsey
Several factors led our pediatrician to recommend that we keep Dempsey as isolated as possible (factors= premature babies handle illness differently- a common cold could hospitalize him, we don't yet know exactly what Dempsey's genetic diagnosis is and how illnesses plays into his syndrome- more on Genetics later, it's an especially bad flu season, etc). Nick went back to school in January and I stay at home with Dempsey. As all parents know, it is so easy to get stir-crazy staying in with a baby all day. I try to take Dempsey on walks but winter weather doesn't always make that possible. He is somewhat of a colicky baby and has an extremely hard time relaxing enough to fall asleep for naps. I really feel that his unexplained fussiness has to do with some discomfort that we just can't see or help with (like pain from the reflux, upset stomach, or other health complications that we don't know or understand yet). I had planned on working part time a few months after Dempsey was born but unfortunately, his schedule doesn't allow for it right now. Between frequent pediatrician appointments, extra shots, physical and occupational therapy and various specialist appointments, he has something on the calendar at least 3 times a week. Though we still try to keep him isolated, we have started bringing him out occasionally (to church or the store) while keeping him covered. Dempsey and I were getting excited to go on the annual Anderson trip to Mexico in March (we even got Dempsey's passport) but the doctor strongly advised against the trip- and we want to do what's best for Dempsey (though I'm a little bummed about it)! Because he is at a higher risk when it comes to RSV, Dempsey gets a monthly SYNAGIS shot to help protect him from RSV through virus-fighting antibodies. The medicine is delivered to us the day before the shot and then a nurse comes to our apartment to give it to him (he does not like it! the fluid is thick like honey going through the needle). I spend a lot of my time coordinating things like that, picking up his prescriptions, and trying to figure out hospital bills (warning- they send bills to collections pretty quick while you are trying to deal with life). But generally, we are so grateful for the progress that Dempsey is making. We see the Lord's hand everyday, though sometimes it seems to be hiding ;). The reality is that these little things add up to be pretty exhausting and frustrating, and it's easy to forget how much progress he has made. But when we do reflect on that progress, it's a lot easier to see the many blessings and miracles that continue to happen on a daily basis, and then we feel bad about getting frustrated. It's an emotional roller-coaster haha. Dempsey did get off oxygen in mid-January which was a major development and made life significantly more convenient for us! He is moving, smiling, kicking, and even laughing!
Cuddles at home
Happy little guy
The day that he got off oxygen!
Dempsey's first laugh
Doctor's Appointments & Therapy
Dempsey has had follow-ups with several specialists, mostly through Children's Hospital. As luck would have it, we live very close to Children's in Colorado Springs. This was a HUGE blessing because we are still too scared to drive Dempsey anywhere without someone in the back seat with him to catch his reflux. With Nick back in school, I take Dempsey to most of his appointments by myself so can't drive. Children's is just a 15 min walk from our apartment and his Pediatrician is just a 30 min walk. We've had a few follow-ups in Parker as well (Nick drives with me to those). We have found Children's to be a great system to work with. They have an online portal called MyChart that I use for appointments, prescriptions, communication with doctors and test results. They always provide an after visit summary which is great because Nick can't go to every appointment but he can read the doctor's notes.
Because Dempsey dropped under 3 pounds after birth, he automatically qualified for a program called Early Intervention. It is awesome! Once a week, an Occupational/Physical therapist and/or Dietician comes to our apartment and works with Dempsey for an hour.
Especially at first, we had a lot of appointments with the Pediatrician as well. She is awesome and we always feel sooo much better after we talk to her. She recognizes that Dempsey has some special needs and she has helped a lot with Dempsey's reflux and constipation (yes, he was majorly constipated throughout December which made his reflux even worse). We had to see her more frequently to make sure that Dempsey was growing. She shows us his growth chart at each visit, both for his actual age (4 months now) and corrected age (a little older than 5.5 months). The goal is that preemies should catch up to the size of their actual age eventually. Even corrected, Dempsey is on the very small side in most categories. Although his head was in the 75th% which is hilarious (for his corrected age, but still). They aren't too concerned with his growth because he is trending up with each appointment which is great. We also have to keep in mind that his syndrome may play a role in his smaller size.
Walking to Children's in Colorado Springs
Dempsey is used to getting poked from shots, IV's, blood tests, etc. Though his tragic cry makes the experience hard for mama every time!
Shots always make him extra sleepy.
A little size perspective with his cousin (isn't she adorable?). Dempsey at 5 months (<1%) and Brooklyn at 2 months (99%- she is going to be tall! as are all of her siblings).
Neurology
The first specialist we saw was a Neurologist back in December. The appointment was in Parker so Nick got to go with me. To re-summarize some info from the last post, there were a few reasons that Dempsey was referred to a Neurologist.
Large fontanelle (soft spot) and extra fluid in his skull.
Brain maturity (Behavior, MRI and EEG performed in the NICU showed immaturity)
I forgot to mention this in my last post but they also found a small clot in Dempsey's brain while in the NICU.
The Neurologist that we met with was pretty hilarious. He kept calling Dempsey a stud, didn't really filter his language and used some funny terms (that Nick & I have since reused). For example...
"Poor kid is sucking o's!" = on oxygen
"He's just over there smashing groceries" = I was feeding Dempsey his bottle
During the physical examination, Dempsey threw up (large amounts) on the Neurologist a few times. Typical but pretty funny. The information that we got from this appointment was what we expected- Dempsey is still a little too young to know exactly what's going on. He addressed the concerns mentioned above and said that Dempsey's large fontanelle is probably due to a genetic syndrome and it may help with the diagnosis. As for the brain maturity and clot, he said that it is pretty hard to determine anything at his age. Dempsey will probably not get another MRI/EEG until he is at least 2 or 3. In the meantime, we will see the Neurologist again 6 months from his December appointment.
Here are the doctor's exact notes to summarize the appointment:
"I think he's a stud. Tone is fine. Head size is nice, fontanelle may help indicate [genetic] diagnosis."
You can really see Dempsey's heartbeat since his fontanelle is so large.
Gastrointestinal
Although we found a few solutions to improve the severity of his reflux in the NICU, Dempsey was still having some major issues so we were referred to a pediatric GI doctor. The combination of his reflux and constipation led us all to believe that something needed to change.
Constipation- Throughout December, Dempsey would go days without pooping so he was extremely uncomfortable, fussy, and extra reflux-y. We tried all of the tricks recommended by the call-in nurse (tummy massages, legs squats, warm bath, rectal thermometer,...) but nothing seemed to work. We started trying a few new solutions with guidance from Dempsey's Pediatrician (adding milk of mag to his bottle, glycerin suppositories) and those did work! But it got to the point that we had to use a glycerin suppository every other day in order to get him to poop at least every 48 hours. This isn't really a sustainable solution so we switched to giving him some liquid stool softener in his bottles twice a day. This seemed to work so we continue to give him lactulose every day to keep him regular.
Our Pediatrician and GI doctor suspected that the combination of reflux and constipation might be due to something wrong with Dempsey's anatomy so an upper GI study was ordered. On the day this was performed, I had to make sure that Dempsey didn't eat anything for 4 hours beforehand (which wasn't fun because he is very used to a 3 hour schedule). I had to wear a lead vest while they fed him a bottle of barium and watched it move through his system (Dempsey was pretty much screaming the entire time and I was in charge of holding his head and keeping him calm... which was an impossible task). It was so interesting- On the screen I was able to see the little bit he ate go down his throat to his stomach and within seconds, come right back up! The radiologist said, "Yep! And there's that reflux!" He also noted a slightly low lying position of the ligament of Treitz (upper intestine). This can cause major problems if the position gets worse but for now, he noted it as an anatomic variation. In a second followup with the GI doctor, he said that it's definitely something to keep an eye on (basically, if his puke is green or another bunch of terrible things happen down the road, that it may be because the intestine is twisted so we just have to pray that doesn't happen)!!!
Reflux- A major help to Dempsey's reflux has been his reflux medication (a compounded variation of Prevacid), which particularly helps with the pain. He gets it twice a day and we are constantly adjusting his dosage with his doctors as he grows or gets worse.
We also knew that Dempsey had an allergy to milk protein. Therefore, I was on a dairy-free, soy-free diet so that I could occasionally breastfeed in addition to his hypoallergenic powder formula. One of the first things that the GI doc brought up was that some babies with milk protein allergies also show improvement when corn is removed from their diet. So we tried a new formula that is pretty much as hypoallergenic as it gets! It comes in "ready to feed" liquid form (in liter containers). We quickly learned that the investment in a bottle warmer was well worth it since we had to store open bottles in the fridge and wait for the bottle to heat up while Dempsey impatiently waited. We did see some improvement when Dempsey was switched to this new formula. Not only in the amount of reflux but he seemed to gobble it down faster (he was seriously the slowest eater of all time). So they added corn to his list of allergies! Unfortunately, both doctors told me that pretty much everything has some form of dairy, soy or corn so if I wanted to keep breastfeeding, I would essentially need to grow my own garden and exclusively eat from that (not realistic in our apartment). They reassured me that though I can't breastfeed anymore, the few months that I did will help Dempsey and he will be just as healthy on formula! I was pretty bummed at first but Dempsey's reaction to the new formula was worth it!
Dempsey occasionally still has some feeding issues. There are times when he is so hungry but screams with or without the bottle in his mouth. The physical and occupational therapists were over at the apartment the other day during one of these hard feedings and they suspected that he was either aspirating or feeling overwhelmed/disorganized during the feeding. The reality is, there are still a lot of unexplained issues but we are working through them and continuing to see the GI every few weeks.
From the appointment notes: "The following issues were addressed: Acid reflux disease, Constipation, and Feeding problem."
At his first GI appointment
Young Dempsey getting medicine
Cardiology
Dempsey saw a Cardiologist in January as well to check up on his 2 heart murmurs. He got another echo and EKG (again, I was in charge of holding his head and keeping him still although he was much calmer during these tests than he was during the upper GI when he was starving)! The good news is that one of the murmurs had resolved on it's own! He still has a small patent foramen ovale (the other murmur) which the doctor said was normal in about 20% of
the population and it should resolve as well by the time he is 1. He will have another echo and EKG in 6 months from the time of this appointment.
EKG
It left a few marks but he's a champ
Ophthalmology
Last month we saw the same Ophthalmologist that examined Dempsey in the NICU. Although he was opening his eyes a lot more frequently than he did in the NICU, he still isn't able to open them all the way. I'd say that most of the time when his eyes are open, about 75% of his pupil is exposed. Since visualization is so important to the development of an infant, we were pretty concerned about this. Dempsey got his eyes dilated and the Ophthalmologist did an examination. He did note that Dempsey has ptosis in both eyes and as a result, astigmatism in both eyes already. He also noted the frontal bossing in Dempsey's skull (his forehead protrudes a bit) and said that the bossing could be adding pressure on Dempsey's eyes, making it too hard for him to open them all the way. Interestingly, he also mentioned that he thinks the Geneticist will find Dempsey interesting (that seemed to be a theme among all of the specialists that we saw). Basically, if things do not improve, the Ophthalmologist has a few options for proceeding:
Dempsey might need baby glasses to correct the blurriness from the astigmatism so that it doesn't affect his development. (Though this wouldn't be the end of the world because baby glasses are adorable).
Dempsey tries with all of his might to open his eyes more by raising his eyebrows. The Ophthalmologist said that there is a surgery that connects the muscle that controls his eyebrows to his eyelids so that when he raises his eyebrows, he would actually be able to open his eyes more. This is an option for down the road.
We will see the Ophthalmologist again in a few months.
Side note: When Dempsey has bad reflux, his eyes open wider than they typically do for whatever reason (like he's scared) and they get all red and watery. We call them his "reflux eyes" and it is the saddest thing.
We love this pic of him in the eye exam chair.
This picture shows how wide Dempsey typically opens his eyes
Urology
Our first Urology appointment is in April. They will see if Dempsey's big enough to do the surgery to fix his hypospadias (and get circumcised).
Genetics
The big one. We were looking forward to this appointment ever since Dempsey was born. We were especially eager to meet with the Geneticist after our Pediatrician, the NICU doctors and each specialist told us that they felt Dempsey may have a genetic diagnosis. We didn't expect much out of the very first appointment because Genetics is very complicated. But the Geneticist definitely did her homework with Dempsey's history and was as brilliant as everyone said that Geneticists are! We talked to a Genetic Counselor first. We discussed family history (which wasn't much in the way of Genetics) and some of Dempsey's unique characteristics. Then the Geneticist came in to do an physical examination of Dempsey. She pointed out several symptoms that we never noticed before (new ones are in green)!
Fused toes (his second and third toes are slightly fused together on both feet).
Curled fifth finger (his pinky finger is naturally curved on each hand).
We were surprised to hear her say, "Your son definitely has a genetic diagnosis. And I can't say that to every parent." She also confirmed that Dempsey does not have Achondroplasia (Dwarfism). After a quick break to gather her thoughts, she already had a list of the first round of syndromes to test. There are 4-5 syndromes being tested right now- some are closer matches than others. Some of the syndromes are more rare/severe than others. Though almost all of the syndromes have some level of health complications or mental/learning disabilities associated with them. We decided not to worry about these syndromes until we know Dempsey's diagnosis (no use freaking out about the symptoms of a syndrome he doesn't have). In fact, we don't even know the name of all of the syndromes. None of them were a perfect match. Each syndrome has a few of the symptoms from the list above and each syndrome has symptoms that Dempsey does not have. That's what makes Genetics so hard. We have done some research on the syndrome that is #1 on her list right now. It's one that is not quite as rare as the others- it is associated with heart issues and an increased risk of cancer (particularly Leukemia), about 50% of the people with it have some level of mental disability, most have learning disabilities, and appearance is affected (for example, typically short in stature) but there is at least a chance of a relatively normal life. We will certainly share more if this ends up being Dempsey's diagnosis. We were told that we will get the first round of results in 1-2 months from the time of the appointment in early February. If all results are negative, they will do another round of testing on a different set of syndromes until they find an answer or we choose to discontinue testing.
They had to take a lot of blood (well, a lot for a baby) in order run their tests. The first vein that they poked did not provide all of the blood that they needed (which I guess is normal for his size) so they had to poke him a few times. Nick and I had to help hold him down :(. So far, we have the results of 5 different blood/radiation tests in Dempsey's MyChart portal but we don't know what they mean! Some of them seem to be normal, while others show numbers outside of the "normal range". I'm sure we will learn what they mean at our next appointment.
She also ordered a Skeletal Survey (x-ray of Dempsey's bones) to see if his measurements are still disproportional like they showed during pregnancy. I took Dempsey to Radiology the following week. Again, I wore a lead vest and held him in position while they took several images. They pushed a clear paddle on his wiggly hands and feet to get clear pictures. These were the results of the x-ray:
"IMPRESSION: Rhizomelic shortening without skeletal findings of achondroplasia."
which basically says that his long arm/leg bones are short/disproportionate but his skeleton does not show other signs of Achondroplasia.
From the Genetics appointment notes: "The following issues were addressed: Short stature, growth retardation; Congenital anomaly of finger; and Fused toes."
Hearing the Geneticist say that our son definitely has a genetic diagnosis brought both Nick and I a lot of mixed feelings. Initially, there was almost a sense of relief that we would be getting answers- that there was a reason that we could point to that explained why things have been so hard. But that relief was pretty short-lived when we realized it meant that the challenges are far from over. This is something that will be part of Dempsey for his entire life. Dempsey didn't just have a list of unique characteristics, there was likely some sort of mutation that could affect his health and ability to learn & function. Once we have a diagnosis, we will generally know what to look out for but every person with each diagnosis is a little different. We won't ever know what to expect (which is true of any parent but whyyyyyy?). We know that some parents have it so much harder than us so I never want to come across as ungrateful for the tender mercies that we've seen with Dempsey. There are so many parents of children with Down Syndrome, Autism, cancer, and other illnesses/disorders/disabilities. We hope to learn from them (& any parent) and make each other stronger.
There is an LDS Primary song that has been pulling at our heartstrings lately. When I was pregnant with Dempsey and we were told that he might have Achondroplasia, my niece was actually singing this song in the car on the way to a hike and I was bawling my eyes out. I've always been extra sensitive/emotional when it comes to bullying or making someone feel different (I seriously don't usually cry during movies but I cried during "Happy Feet" when the main penguin was made fun of because he couldn't sing like the rest of the penguins). Anti-bullying ads are my kryptonite. It's really hard for me to think about Dempsey looking or feeling different. In the end, I know our differences are what make us special and I feel that Dempsey is going to be able to do great things. And for every mean kid out there, there will be tons of amazing ones who will be great to Dempsey.
I'll Walk with You
Words: Carol Lynn Pearson, b. 1939. (c) 1987 IRI
Music: Reid N. Nibley, b. 1923. (c) 1987 IRI
If you don't walk as most people do,
Some people walk away from you,
But I won't! I won't!
If you don't talk as most people do,
Some people talk and laugh at you,
But I won't! I won't!
I'll walk with you.
I'll talk with you.
That's how I'll show my love for you.
Jesus walked away from none.
He gave his love to ev'ryone.
So I will! I will!
Jesus blessed all he could see,
Then turned and said, "Come, follow me."
And I will! I will! I will! I will!
I'll walk with you.
I'll talk with you.
That's how I'll show my love for you.
A family friend also sent us the classic poem for parents of children with disabilities, WELCOME TO HOLLAND by Emily Perl Kingsley, which we found to be beautiful as well. This is not at all what we expected when we decided to grow our family but we love our little Dempsey Bug and he is worth every hard moment.
As we learn more about Dempsey's diagnosis, we will definitely keep you informed. Thanks again for your love and support. Hopefully we will know more in a few weeks!
Happy right before all of the blood was drawn.
Shortly after being told Dempsey has a genetic diagnosis
WARNING: Longest post ever! Over the past few months, we have gotten a lot of questions about Dempsey's birth story and his health/time in the NICU. I wrote most of this post back when Dempsey was in the NICU but wasn't able to organize everything until things have settled down. That said, we have insight into a few areas regarding Dempsey that we didn't have at the time I wrote this. I will write a follow-up later with those new details. I tried to section this post out so you can read only what interests you! (I treated this post kind of like my journal for myself so it has details that most of you probably don't care about).
Infertility
Other than family and a few friends, most people don’t know much about our pregnancy journey. Nick and I decided that we wanted to grow our family in the spring of 2014. We didn’t expect to get pregnant right away since we were aware that it takes most couples some time but after a year of trying, we were feeling a bit discouraged. We moved to Colorado during the summer of 2015 and decided that once I got a job and figured out health insurance, we would go see a doctor about getting pregnant. In the meantime, we tried ovulation tests, ovulation apps, etc. We finally saw an OB that specializes in infertility at the beginning of 2016. We did several tests including one to check the shape of my uterus and to make sure there was nothing blocking my fallopian tubes (Hysterosalpingogram). All tests on Nick and myself came back normal. The next logical step was to try Clomid Fertility Treatment. We were informed that if we didn’t get pregnant after 4-5 months on Clomid, then it’s probably not the solution. With high hopes, we tried month 1 with Clomid… no baby. We tried months 2, 3, 4, and 5… no baby. Each time that we got a negative pregnancy test was really hard on us. After the fourth month, our OB started referring us to an infertility clinic as he explained that the next step would be artificial insemination… not exactly in the budget of a medical student. After month 5, we were extremely bummed and preparing for the possibility of insemination. As a last effort our OB said, “Let’s just try one more round of Clomid but this time, let’s double the dosage.”
The evening before Nick’s 26th birthday, he asked me if I started my period yet since it was supposed to start the day before. I said no but told him I felt cramps coming on (I always feel cramps the night before I get my period)... I lied ;) because how cool would it be to find out that we were pregnant on Nick’s birthday?? The next morning, I woke up early to hang Nick’s birthday signs and make breakfast (birthday traditions) and take a pregnancy test. I had no problem waking up early since I had been waiting a few days to take this test and was super eager. I grabbed the test and went to the downstairs bathroom. Is that a line?? I can’t tell if that’s a line! After 3 years of trying, I finally saw a positive pregnancy test. I, of course, started bawling right there in the bathroom. I was able to keep my cool while Nick and I ate breakfast. When he started opening presents, I told him which presents to save for last. Here is the sweet video of Nick opening his final present:
My favorite video of all time! Soooo sweet
It's positive!
Sharing the news
Our OB was excited to learn that we were pregnant and I was pretty antsy leading up to our 8 week appointment. We wanted to wait to tell family until we knew everything was good with the baby. We told our parents on April fools day. Parents on both sides knew that we had been trying to get pregnant for a while and that we would likely need to go to an infertility clinic. We told them that we went for an initial appointment and that the bill was already astronomical (Nick had to do most of the acting, I would have started laughing). When they asked how much is was, we just handed them an envelope claiming it was the bill. I printed our address on the outside of the envelope with the infertility clinic’s logo, sealed it, and then ripped it open to make it look realistic (so sneaky). Instead of a bill, the paper inside showed an ultrasound picture with “April Fools! Grandbaby #13 on the way!” (or Grandbaby #5 on Nick’s side). We sent ultrasound pictures in the mail to siblings and a few close friends addressed to Aunt or Uncle [blank] to surprise them with the news.
A few blessings
While we were still living in Broomfield, I was able to see the OB that helped us get pregnant for the first few appointments but in April, we moved to Colorado Springs so we needed a new doctor. We are on Kaiser insurance so had to make sure our new OB was a doctor that was contracted through Kaiser. I wasn’t in a big hurry to find one since I had an appointment right before the move and had several weeks before the next recommended appointment. I sent an email to the Relief Society in our new ward asking for OB recommendations and got a steller review of a Dr. W from one of the women but unfortunately, he wasn’t on the list of doctors that I got from Kaiser (bummer). After a few weeks, I looked through a list and decided on an OB that was close by (the office had one doctor and a few nurse practitioners). But before being able to officially transfer my records to their office, I was experiencing some bleeding. Not insane amounts but enough for it to be concerning. And after having a hard time getting pregnant, I was worried every single day those first few months that I’d have a miscarriage. I was working from home and called my team lead to let him know I’d be MIA for some of the day while I tried to find a doctor to help me. Poor guy had to deal with a surprise call from me crying my eyes out and for the first time, hearing the news that I’m pregnant. (Side note: I’m the only female on a team of several web developers so I doubt this was something they were used to dealing with haha). The office of the OB that I had picked just a day before was NOT helpful at all and suggested that I go to the emergency room. I was freaking out so called Nick who was at the hospital in his surgery rotation (most of you know that Nick is a third year medical student). He mentioned what was going on to the surgeon that he was working with and right away he started telling Nick about an awesome OB that might be willing to talk to Nick about it and possibly see me. They tracked him down in the same hospital and without hesitation, the OB offered to see me that afternoon even if our insurance didn’t work out. He was just a great guy who wanted to make sure that the baby and I were okay. Though there was a decent amount of bleeding, he was able to see that we were both healthy for the time being after an ultrasound. It turned out that Kaiser didn’t give me the full list of approved OBs and the doctor that helped was on the list! And weirdly enough, this doctor turned out to be the same Dr. W who was recommended to me before! Nick and I quickly realized that the bleeding led us to our awesome OB and found that it was a huge blessing on so many levels. Not only is he a great doctor, but he had connections with other doctors who we ended up needing to see often due to our high-risk pregnancy (more details later) and he worked at a hospital with a NICU close to our home (more NICU details later). Had I gone with the OB I had originally picked, I might not have received the help I needed through the pregnancy with easy access to MFM doctors and I would have delivered at a hospital without a NICU and our baby would had to have been transferred to an associated NICU that was 30 min away (instead of 7 min- and we went back and forth to the NICU A LOT)! We definitely felt God’s hand in this. There were also a few members in our ward that helped us through our whole NICU experience- they will never know how grateful we are for them!
One other major blessing through all of this has been the fact that Nick is going to medical school here in Colorado, specifically Colorado Springs. During the whole medical school interview process, Nick interviewed at several schools in Texas that he really liked. Honestly, we would have gone to any of those schools over Colorado simply because they are cheaper than Colorado is, and the schools were good. Nick ended up being wait-listed at all of the schools in Texas, and we didn't hear back from any of them, which really frustrated him since he felt like he had really good interviews and that he would have enjoyed the schools. In hindsight, we really feel like it was divine intervention that we ended up in Colorado, since we have so much family here that has helped us in immeasurable ways throughout this difficult journey. Had we been anywhere else, this whole thing would have been even harder than it already has been. The fact that we are in Colorado Springs is a blessing as well because Nick's rotation schedule is different than what it would have been in Denver. He does all of his rotations longitudinally throughout the year, with a different specialty on every day of the week instead of block rotations where each rotation is done one at a time in several week blocks of time. Being in the longitudinal system has been advantageous because it means that making up the time he has missed is a lot less complicated and will ultimately take less time than it would have up in Denver.
Pregnancy
Early in my pregnancy, I had Placenta Previa (likely the cause of my bleeding mentioned before). It’s fairly common but they like to keep an eye on it throughout the pregnancy because if it continues to be present around the time of delivery, a c-section is required. Therefore, I had some extra ultrasounds scheduled with some specialists (MFM) to check up on it. Midway through my pregnancy, the ultrasound showed that the Previa had almost completely resolved however, our baby’s measurements caught their eye. I had a follow up with Dr. W after the ultrasound. He had me hold out my arms which I found kind of weird. After noting that I have long arms, he went on to tell me that our baby’s long arm and leg bones were both measuring small (several weeks behind). It was something he noticed before but it was even more noticeable in the most recent ultrasound. He started to explain that if both Nick and I were short and/or had short arms, he wouldn't have thought too much of it but both Nick and I are on the taller side (Nick is 6'2", I'm 5'7") so it raised a red flag. In the moment, I didn't really understand what he was saying. He warned that if I went home and Googled what that might mean, that my search would show that our baby probably has Down Syndrome. However, a measurement in our baby’s neck (taken at week 18) didn’t seem to point to Down Syndrome. He was hesitant to suggest what it might be without a follow-up but his best guess was Achondroplasia (dwarfism). The chance of two average height parents with no history of dwarfism is approximately 1 in 25,000 (0.004%). My head was spinning. He also explained that there was still a chance that the baby’s bones would catch up so he scheduled another growth appointment in 3 weeks with the MFM doctors to get a second opinion. Since I wasn't fully processing what he was telling me, I didn’t think to ask any questions and Nick was at school during that appointment. On my way home, I started thinking about all of the possibilities (Does our baby have Down Syndrome? Dwarfism? How will our boy’s life be different? Will we need to buy him a special bicycle? Will his social life be any different? What kind of physical challenges will he face? Will there be limitations to the sports he can play?) Needless to say, I was pretty overwhelmed, emotional, and surprised. To make it worse, I called Nick to let him know what Dr. W said, but he didn’t have much of a reaction to the news, just reassuring me that everything is fine and we have a healthy baby. I felt like the worst mom ever for worrying about anything besides having a healthy baby. It turned out that Nick just needed some time to process the news as well and it ended up being just as hard on him as it was on me. We had an emotional evening as we processed the news together. I guess the best way to describe our feelings was NOT disappointment, but just the realization that our son's life might not be what we expected. The next 3 weeks took forever and included a vicious cycle of worry and then feeling guilty about worrying about things other than our baby’s health. I received a priesthood blessing from Nick, his dad, and his brother and we were all overwhelmed with the same feeling: our little boy has the sweetest spirit and he was soooo excited to come to earth, even being fully aware of the physical challenges he might have.
Three weeks had passed and Nick and I nervously went to the appointment. I admit, I was really hoping that the measurements from last time were all a big mistake and we had nothing to worry about. The MFM doctor was extremely nice but she brought us the news we were hoping not to hear. Except this time not only were our son's long leg and arm bones measuring small, but essentially all bones and his stomach were measuring several weeks behind. Amazingly, his ribs and head were the only areas measuring in a normal range. (What a relief, considering those are the most important areas protecting the brain, heart, and lungs). Overall, he was less than the first percentile (<1%). Regardless, I was again pretty emotional (you are going to read that a lot). We had another blood test done to confirm Dempsey didn't have Down Syndrome (I'm still fighting insurance bills for that one). From that point on until Dempsey was born, we believed our sweet little boy had dwarfism and we started doing a lot of reading and research on dwarfism. We were so excited to meet him but it wasn't always easy. Shortly after the appointment that confirmed his small measurements, we went to an Anderson family reunion. We had Nick's dad update all of his siblings on our situation. When we arrived to the reunion a little late, we didn't say much but one of my sister-in-laws came and gave me a hug. Here comes the water works! Most of our immediate family shared tearful hugs (we weren't ready to tell extended family yet so I imagine that some of them were pretty confused if they happened to see our arrival). We felt so much love from family that day. Families on both sides were extremely great through the pregnancy and always kept Dempsey's health in their thoughts, prayers, and fasts. We are so grateful for family.
Unfortunately, this meant my pregnancy was considered "high-risk" and a group of 3 MFM doctors wanted to see me and Dempsey twice a week for ultrasounds until birth. And with my regular OB appointments, I was going to the doctor 2-4 times a week for several weeks! Luckily, my work was super flexible with my schedule. We learned that Dempsey's small measurements were also a result of Intrauterine Growth Restriction (basically, for whatever reason my body wasn't providing Dempsey with all of the nutrients he needed to grow). Interestingly, not every doctor we met with thought that Dempsey had Achondroplasia (he didn't show other physical signs of dwarfism like a protruding forehead or proportionally larger feet). In fact, we were told that if 10 specialist were to look at Dempsey's data, all of them would have a different theory about what was going on. Basically, we wouldn't know until he was born or even later (which turned out to be the case...). We were warned that at any given time, we could have an emergency delivery if one of these frequent Biophysical Profiles showed that the baby was in distress.
25 week baby bump
I got spoiled and got to see 3D images our my little boy twice a week!
My view twice a week for several weeks
Dempsey's Birth
On September 22, I had my last scheduled Biophysical Profile. Things appeared to be okay. That night, Nick and I drove to watch his cousins' undefeated high school football team play a game a few hours away. We got home and went to bed like any other night. I woke up early the next morning (4-5ish am) with my pajama bottoms drenched! It felt like I was peeing really slowly. I was freaking out and tried waking Nick. There was no way my water broke! I was just barely 33 weeks! At first, he thought I just peed my pants but it just kept coming and the fluid was clear and scentless. Sooo we called Nick's brother (who is in residency right now) and he told us to go to the hospital. I switched my pants and put on a pad (pointless- it was soaked in about 2 seconds) and we hurried to the hospital. Of course, I was planning on packing the hospital bag that Saturday so we weren't prepared at all. We also hadn't pre-registered at the hospital yet! When we arrived at labor and delivery, the woman at reception had us casually fill out some paperwork. She didn't realize I was leaving a big puddle on the floor while holding a soaked towel, but once Nick informed her that the carpet was soaked she realized what was happening and took me back to triage. I flooded triage! There was no doubt that my water broke! The nurses kept asking if I had Polyhydramnios (extra fluid)- I was always on the higher end with fluid measurements but nothing too crazy. After the nurse set up my IV, the doctor came in and explained the plan. After the water breaks, it increases the chance of infection to the baby so they didn't want to check my cervix and expose me and the baby to germs. The timeline for when the risk of infection outweighs the underdevelopment of the baby is 34 weeks. Therefore, the doctor wanted to try to prevent labor for another week to give our baby's lungs more time to develop. At the very least, he wanted to prevent labor for the next 48 hours since they gave me a steroid to help Dempsey's lungs that would take 2 days to kick in. Dempsey was on the smaller side as it is! They put me on magnesium which made me super lethargic and it was terrible! And since I was essentially a limp noodle, they had to put in a catheter... while I was contracting!! That was also terrible. While my catheter was being put in, Nick said he thought there was no way I was going to make it 2 days, let alone a week, before having the baby. I was hurting. But eventually, my contractions settled down. They got to the point where I was only having one an hour and couldn't even really feel them anymore. My parents and Nick's mom came to visit.
The next morning, Nick went home to get a few things to make our week-long stay at the hospital more comfortable. We thought we were going to have a relaxing day, watching the Broncos game. However during the night, the nurse noticed Dempsey's heart rate had dropped during some contractions so a Biophysical Profile was ordered for that morning. I had gone through so many biophysicals by that point that I didn't think anything of it. In fact, I was trying to chat with the tech while she was examining Dempsey but she didn't seem very social (I realize now that she was concerned but it's up to the doctor to read the results before I'm informed about what's going on). Without much of an explanation, the nurse rushes in and asks where my husband is and says he needs to get here ASAP. I called Nick, who luckily was in the elevator on his way up. When he entered the room, I was swarmed with nurses preparing me for an emergency c-section. He was in his Broncos jersey holding a bag of games and DVDs (haha), looking a bit frazzled. From the ultrasound, Dempsey had scored 0/8 and was showing signs of distress. They needed to get him out right now! They quickly rolled me out of the room and didn't let Nick come back for the birth since it was emergent. Poor guy was left alone in a matter of minutes, not knowing what was going on.
(*Side note from Nick: This was the worst, most frightening moment of my life! There was no time for them to explain to me why they were needing to do the surgery, and then I was just left alone in the room having a panic attack. I just called parents to tell them to come as soon as possible and then just prayed until a nurse came running and told me to come with her).
From top to bottom, the process was no longer than 10 min and we were told that the time from the start of the incision to Dempsey being out was only 30 seconds!! (Sadly, Dr. W was not on call so didn't deliver our little one). Before being put under, I remember them transferring me to a thin operating table and a nurse holding my hand while I was trembling. Meanwhile, a nurse came to get Nick so that he could get the first glimpse of our baby boy.
(*Nick again. So I went running down the hall with this nurse and came up on a big group of people wheeling Dempsey down the hall in a cart with somebody using a mask to breathe for him. They reassured me that he was OK, that he came out crying, and asked what his name was. I lost it at this point and turned into a blubbering idiot who couldn't connect two words. We got into his pod in the NICU and they transferred him to his isolette (incubator) and I finally got to touch him for the first time. After spending some time with Dempsey I went to check on Rachelle).
I guess that I didn't come out of the anesthesia very easily and they were about ready to roll me off to the ICU to be put on a ventilator since I wasn't waking up! Unfortunately, since the c-section happened so quick, I wasn't given an epidural or spinal or even pain medicine initially. I was just knocked out! I woke up to THE WORST PAIN IN MY LIFE. Nick describes me as "white-knuckled holding the sides of the bed, shaking." They were chasing my pain for a while (it felt like forever) and I was pushing the crap out of that little drug button they gave me. After the pain subsided a bit, they brought Nick and I back to see Dempsey. He was having trouble breathing and they were in the process of giving him Pulmonary Surfactant (a steroid to help his little lungs) when we got there. I honestly don't remember much from that first day. But I do remember getting to see my sweet little boy for the first time. We weren't allowed to hold him. We could only use 2 fingers through a hole in his isolette to touch him with a little pressure (no stroking or rubbing). Several family members came to visit (but again, I was pretty out of it). Our little Dempsey was just too excited to join us that he didn't want to wait another day. We were filled with joy (and slightly traumatized) that day!
DEMPSEY Q ANDERSON
09.24.17 | 3 lbs 7 oz | 16 in
Hanging out in our first hospital room
First ever picture of Dempsey
NICU | Part 1
Dempsey's first stay in the NICU was from September 24 - Nov 9 (his due date). He started in an isolette that controlled his temperature. For breathing, he needed surfactant (mentioned before) and a CPAP ventilator. Though he was on the smaller side, the doctors no longer thought he had Achondroplasia from a visual examination. However quickly after birth, the Neonatologist noticed several unique things about Dempsey (I'll get to that a little later). There is no set time that each baby needs to stay in the NICU. Every baby develops at their own pace but they typically come home around their due date plus or minus 2 weeks. The goal was to get Dempsey eating and breathing on his own (and gaining weight).
Day 2 was extremely overwhelming. I was instructed to do a bunch of things that I couldn't do on my own because I was recovering from my c-section (take a shower to get the gauze off my incision so that it can air out, start pumping, etc) and at the same time Dempsey was getting a PIC line placed and Nick was with him for that. It took much longer to add the PIC than it typically takes. Dempsey's little veins were making it difficult and they had to prick him several times. Poor little guy was covered in pricks and bruises. Meanwhile, I still had an IV in and needed to start pumping so that Dempsey would have milk. My first attempt at pumping was a disaster. While trying to adjust the pump settings and hold the pump pieces in place with one arm, my IV got rubbed the wrong way and poked out of the vein. I was low on iron so they were trying to give me extra iron through the IV at the time which is a dark brown color. My forearm started filling up with brown iron. I called the nurse in tears and she removed the IV and flushed my arm (which is still discolored from the iron to this day). We quickly realized that we would need more help so we called my mama (who has been so much help with everything)!
The NICU is open essentially around the clock so we were able to go visit Dempsey whenever we wanted. Nick and I have learned A LOT about the NICU. We learned how to read the monitors and the purpose of most of the machines. As most babies do, Dempsey dropped some weight on day 2 (to just under 3 lbs). After a few days, Dempsey was able to come off the CPAP ventilator and was switched to a Vapotherm which meant that we finally got to hold him! He was so sweet and so little! The first several times holding him were actually pretty nerve wracking. He had a feeding tube (through his mouth at first, later moved to his nose), heavy nasal cannula, several leads attached to his body, a pulse oximeter on his foot, an IV, and a sticky on his chest that checked his temperature in the isolette. Nick and I were the only ones allowed to hold him for a while.
The days in the NICU were a roller coaster! He would have several days where he was making a lot of progress and then he'd have days where he was frequently dropping oxygen levels and heart rate (Bradycardia). He would be gaining weight and learning to eat and then would lose weight several days in a row and eat nothing on his own. We were just so excited to bring him home and snuggle him in the place we are most comfortable so when he would regress, it was super disappointing. The thing that I didn't anticipate was constantly feeling guilty any moment that we couldn't be at the hospital with him. It also got hard when Nick went back to school for several weeks. We would spend his only free time in the evenings at the hospital with Dempsey which was especially exhausting for Nick. There was a particularly bad week when nothing seemed to be going right. Dempsey wasn't developing as the doctors and nurses would have expected. He rarely opened his eyes and when he did, they were just tiny slits. Sight is sooo important for the development of an infant (they respond to what they can see, learn about their surroundings, and reach for things). He also wasn't feeding like he should have. Other preemies his age were nippling most of their feedings at this time (nippling = drinking from a bottle or from the breast). Dempsey was not nippling anywhere close to the expected amount for his gestational age, instead he was getting most of his food from a feeding tube. His breathing was going up and down as well. They kept attempting to get him off the higher pressure Vapotherm to a normal nasal cannula but within the first hour, his sats would tank. Nick and I were feeling super discouraged. The NICU docs decided to loop in a Pediatric Neurologist to look at his brain development. They did an MRI and EEG to check the anatomy and functionality of Dempsey's brain. According the the Neurologist, Dempsey's brain was premature, appearing 3-4 weeks behind his gestational age. That would explain some of the things he was struggling with (for example, a baby 3-4 younger than Dempsey would not know how to feed). Unfortunately, the brain is so complex that he wasn't able to tell us what that means for Dempsey's future. (Would his brain maturity always be proportionally behind or would he eventually catch up)? He informed us that we might expect that Dempsey won't walk or talk as quickly as most kids. We were instructed to follow up with a Neurologist after Dempsey gets released.
Images of Dempsey's EEG
I mentioned before that Dempsey was born with some unique attributes. Here is a high-level list of the main challenges he faced in the NICU, in addition to some of those unique features:
1. His small size- Even smaller than a typical 33 week preemie (he was still under the 10th percentile to other 33 week preemies the whole time he was in the NICU). Dempsey's body and limbs measured more around the size of a 29 or 30 weeker.
2. He has a Simian Crease in both hands. This single crease is most typically found in people with Down Syndrome but not always the case.
3. Sacral Dimples/Creases- Dempsey also got a spinal MRI done since his sacral dimples turned into sacral creases. The doctor was concerned that this might indicate a tethered cord but the results came back normal- phew! Dempsey's butt-crack actually splits into two creases at the top, so it looks like a "Y". Fitting since he was born into a BYU household!
4. Hypospadias- His urinary opening is not at the usual location on the head of the penis. He is going to need a surgery once he gets a little bigger to relocate the urinary opening. We will follow-up with a Pediatric Urologist around 6 months to see if he's big enough to get that fixed. Because of this, he hasn't been circumcised yet (they will do it during the surgery).
5. Brain Maturity- MRI & EEG showed his brain is 3-4 weeks behind. We don't if his brain maturity will always be proportionally behind or if it will catch up.
6. Large soft spot and extra fluid- Ever since he was born, Dempsey has had an extra large fontanelle. Turns out he has extra fluid on the outside of the membrane of his brain between the scull.
7. Heart murmurs
8. He rarely opens his eyes- He saw a pediatric Ophthalmologist while in the NICU because of this. It's hard to tell if further action is needed because he is so young. We have a follow-up around 3-4 months. The nurses got a kick out of him trying so hard to open his eyes though! His eyebrows would be all the way up to his hairline!
9. Feeding Issues
10. Reflux (More on this later)
A lot of these features led Dempsey's doctors to believe that he may have some sort of genetic syndrome. While in the NICU, they performed a Chromosomal Microarray which tests for some of the most common syndromes, including Down Syndrome. It came back negative. If he does have a Syndrome it will be up to the Geneticist to diagnose him. The Neonatologist and his Pediatrician have both decided not to take an x-ray of his bones to investigate measurements further. They believe this is something the Geneticist will want to do and they don't want to expose him to extra radiation. We are looking forward to the Genetics appointment more than anything! Maybe we will start to get some answers or even learn that Dempsey doesn't have a syndrome and just has some special features!
Shortly after one of the worst weeks, Dempsey turned a corner super quick and was ready to come home right on time for his due date! They were able to send him home on a low flow oxygen tank since he still needed some help breathing. Dempsey had several really amazing nurses and doctors that we are so grateful for! We got to spend a night at the hospital with him before bringing him home (we didn't get a wink of sleep that night). He came home on Nov 9th, 2017 :) Dempsey has appointments with his Pediatrician, Neurology, Urology, Cardiology, Physical Therapy, GI, & Ophthalmology! Busy boy (and mama)!
Dempsey with the CPAP ventilator
So tragic- look at those ribs!
Under the bili lights, showing perspective to Nick
NICU | Part 2
The morning after our first night at home was the worst. We were then on 2 nights with little to no sleep. I set Dempsey down in his little rocker so that I could sit down for a minute. A few seconds later, I looked over and saw him bright blue and not breathing. He had thick foamy milk coming out of his nose and mouth. His airway was completely blocked and he didn't make a single sound when it happened. I grabbed him and started screaming- he was completely limp. Nick, who was taking his turn to sleep next to me woke up right away and started helping. Let me tell ya, he was way cooler under the pressure than I was that time. Nick started to clear Dempsey's airway while I was just crying and yelling "He's blue, he's blue, he's blue". I snapped out of it eventually and ran around the corner to turn his oxygen up. We had to stimulate him to get him to breath again. From that point on, we were both sooo paranoid. We didn't want to leave Dempsey for a second without watching him. We had to quickly clean up and take Dempsey to his first appointment with the Pediatrician (his Pediatrician is AMAZING by the way). We had a long meeting with her to go over his whole history and we brought up what had happened that morning. She told us that if it happened again that we need to give her office a call right away.
The next day, I was holding Dempsey and yet again, he severely refluxed. Milk came through his nose but I was able to catch it before he turned blue. Because it wasn't as bad as his first episode, we didn't call the doctor. I rearranged the living room for the night so that the couch where I would sleep lined up with his crib. We dreaded the nighttime. Before bed, Nick and I brought Dempsey to his changing table to change his diaper. He had the worst episode of them all. Large amounts of milk came through his nose and mouth, he went limp and turned blue. This time his eyes were as wide as we had every seen them, he was so scared. After we cleared his airway and got him breathing again, Nick called the doctor's office and we were instructed to bring him to the emergency room immediately. Around 4 in the morning, Dempsey was re-admitted to the NICU (this was now night 4 of no sleep and we were complete zombies). Within a half an hour of being hooked back up to all of the NICU machines, he had another reflux episode and now we were able to see exactly what he was going through. His oxygen saturation levels were below 50% and his heart rate dropped to the 30's (and he typically had a rather high heart rate- it was normal for him to spike over 200 during diaper changes)! Without intervention, he could have died. Nick and I had to just stand there while the nurse revived him. They were not going to let him go home like this. The nurses pretty much told us how horrible we looked so they arranged for us to get a few hours of sleep in a labor and delivery room down the hall.
Dempsey's second stay in the NICU was little over 3 weeks and Nick took some time off of school. The doctors were trying to determine what was causing this severe reflux. Not only were the episodes preventing him from breathing, but Dempsey was also in a lot of pain. Because of Dempsey's prematurity and size, we were fortifying my breast milk with extra calories to help him grow. During his first stay in the NICU, the fortifier that was used was a liquid. This liquid is extremely expensive and hard to come by so the hospital likes to transition babies to a powered version of the fortifier before being sent home. This was the only notable change so we all suspected the reflux had to do with an intolerance to the powder. Over the course of his second stay at the NICU, we tried so many combinations of milk and fortifier. It got to the point where Dempsey was not even feeding on his own again and they had to put the feeding tube back. The nurses stopped putting clothes on him because he was refluxing so much (even when fed through the tube). In the second week, he had another terrible episode during the night. We woke up to a call with the news. During this episode, he wasn't able to start breathing on his own with just stimulation so they had to bag him. (We heard that the night nurse assigned to him was pretty shooken up about it so I can't imagine how I would have handled it if I was there). They decided to give him a break from feeding and put in an IV for nutrients. He did not like going hungry!
From there, a nurse suggested that maybe it wasn't the fortifier that was causing the issue but that it could be my breast milk, the doctor agreed. Dempsey was around the age that he could develop a milk protein allergy. So we switched him to a hypoallergenic formula and started him on reflux medication for the pain. This combination did seem to help quite a bit. He was in less pain, and throwing up a little less (he was still throwing up much more than a typical baby, but the consistency of the refluxed milk was a lot less thick and foamy than before). I started talking to hospital dietitians about cutting dairy and soy from my diet so that I could continue breast feeding him for some of his feedings (he was allowed 2 unfortified feedings per day). After several days on this new diet, Dempsey was sent home a second time right on time for the Christmas season! (Though he spent Thanksgiving in the NICU). We were sooo scared to bring Dempsey home this time around (the first time, we couldn't wait to get him out of there!). I honestly think there was a level of PTSD for me. With a lot of help from family, Nick and I keep an eye on Dempsey at all hours by taking shifts (yes, it's as exhausting as it sounds). When we brought Dempsey home the first time, I thought it had been a pretty rough experience and if I had known that in the future I would see my baby blue as often as I did, I don't think I would have thought that we'd be able to make it through it. But we did. I know that others go through challenges even harder than what we faced and I know that we were blessed in so many ways. We love having Dempsey home and the happy sweet spirit he brings! He is our world now and we love him so so so much!
*Nick again. My intention isn't to be a Debbie Downer here, but the reality of this whole experience is that it has been overwhelmingly difficult. I feel that if nothing else, we have learned to be a little more open minded to other people who are going through different challenges that we might not have perceived as difficult. I never knew how scary, draining, and isolating something like this could be. A common thought that I've had through all of this is that while we try to be positive and optimistic through trials, the reality is that life is hard, and sometimes just making it to the next day is all you can do. By no means have we reacted perfectly to this challenge, or taken it in stride and still excelled in life. It's felt more like we've been crawling along the ground barely surviving more often than not. But we're both surprised that we've made it this far, so we'll take that as a win. We appreciate all of the love, prayers, and thoughtful messages we've received through all of this, and we feel incredibly blessed to be surrounded by amazing people in our lives. We can't wait to see all of the things that Dempsey goes on to accomplish in his life, and we feel so humbled and blessed that he was sent to us to be his parents. With all of the difficulties he's had so far, he must be a much more valiant spirit than I am, and we love our little fighter!
