Dempsey's Diagnosis

Getting the Diagnosis

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.