The Beginning of Our Medical Journey
I have been back and forth on how I wanted this edition of the blog to go. At first I was going to write about all of Hadley’s medical history, but then I decided that there is just way too much to write about to put it all in one blog. I wrote the following blog for the Children’s Hospital of San Antonio.
Wolf-Hirschhorn syndrome. Something we had never heard about before May 2015. It’s a phone call I will never forget receiving. I remember sitting on our living room floor and playing with Hadley, who was 10 months old at the time, when my phone rang. It was our amazing genetics counselor, Kimberly Nugent, calling from The Children’s Hospital of San Antonio. She informed me they had received Hadley’s genetic testing results and told me about her diagnosis.
Genetic testing showed that Hadley’s had a “small deletion”—meaning a small sequence of DNA was missing. Although Hadley would have delays in reaching her milestones, Kimberly said Hadley would reach her milestones. She might just take longer to get there. I couldn’t hold back the tears and she could hear the fear in my voice. The fear of the unknown. She told me not to research anything, that we would go over the results at our appointment. Of course, the first thing I did when we hung up was research it! What I found made me cry even more. I sat there holding this beautiful child of ours, worried about what her future would be like.
After meeting with Kimberly and Dr. Scott McLean, a clinical geneticist at The Children’s Hospital, we had a game plan and got to work doing what we could to make sure Hadley received all the services she needed. We have been blessed to have such an amazing and caring medical team from the beginning. When you have a child with a rare syndrome like Wolf-Hirschhorn Syndrome, it is hard to find doctors that will see her because they aren’t familiar with the syndrome. We have learned that we have to educate some doctors we see, and that is completely fine with us. That’s even something we were told in the beginning.
Watching Hadley’s determination to meet milestones is amazing. She doesn’t give up and pushes hard to accomplish anything she sets her mind to. She continues to prove doctors wrong by doing something they didn’t think she’d ever be able to do. She is small, but she is so strong.
Having a child with a rare genetic condition has been anxiety provoking at times. Seeing Hadley in the hospital because of seizures or learning of another diagnosis that may or may not be related to Wolf-Hirschhorn Syndrome is scary, but the good times have definitely outweighed the bad. We have learned to take each day as it comes, enjoy all the small things, not to take anything for granted and to know that she will do anything she sets her mind to. Hadley is so inspirational to so many people and we are so blessed to be her parents and to learn from her.
With any diagnosis you get for your child, there is always that moment of the fear of the unknown, but just know that there is always someone, somewhere that you can reach out to. We found an amazing support group on Facebook and have been fortunate to grow very close to many of the families. It may feel like you are alone at times, but remember, you never are alone.
I have included a couple of links below. The first one is to read up a little more on Wolf-Hirschhorn Syndrome and the other is a link to the Children's Hospital of San Antonio.