Genetic Testing/Quick Update

Genetics

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!