But we received an answer--a diagnosis--for Adaline a few weeks ago.
In my post about the waiting place, I mentioned that we had a dermatologist appointment for Adaline coming up. We went to see Dr. Morelli, a dermatoligist at The Children's Hospital. To be honest, Chad and I thought this was going to be just another appointment where we walked away knowing nothing more about what could be wrong with our sweet girl. However, this was THE APPOINTMENT where all our questions were answered, well, sorta.
Dr. Morelli and his entire gang (many residents, fellows, medical students), came into the exam room that day. After only a 5 minute exam (feeling Adaline's legs and back) and reviewing her history with us, he said that he was very confident that he has a diagnosis for Adaline. And then, just like that, he said that Adaline has what is called Stiff Skin Syndrome (or SSS). He said it is exactly what is sounds like--Adaline's skin (the sub-cutaneous layer) is simply stiff. This syndrome does not affect anything else (her internal organs and cognitive development isn't affected) but it constricts joints and prohibits some movement. This syndrome, he said, is extremely rare (apparently, Adaline is one in 40-50 cases in the world). He said that, too, that little is known about it because it is so rare (although we know there is genetic testing that we plan to have in just a week) . Thankfully, he said because Adaline has progressed so much, he believes she will be able to walk and live a relatively active life (with a normal life span). Chad asked about sports and other movement involved activies (that many childhoods involve), and he said to just let Adaline do what she wants. The only thing that helps? Physical and Occupational Therapy (what we already are doing!).
I felt, and still feel, a little shell shocked. How strange, after all these months, to have a diagnosis for Adaline. To have a diagnosis that no one knows about leaves us in the same place we were before--not really knowing what life will feel like in the years to come. It feels like nothing much has changed, really. Its almost exactly what we have been thinking all along. That, although something was not right with how Adaline moved, she would work through it and be resilient and strong. That's exactly what SSS could mean for Adaline--except now we have a name.I was
definitely sad and mourned this diagnosis at first--but then I started rejoicing that Adaline will be able to live a full life with movement! So, we go on living (and thoroughly loving with joy) life with a plan. We plan to continue with Adaline's therapy, go to the pool, get involved in baby yoga, go to the mountains, have play dates with our friends, play at the house, watch Adaline develop, go on date nights, remain involved at Refuge Community Church, and enjoy this little family of ours. I am enjoying this journey, and my precious family, and truly feel blessed. 