Back in December when we went to the developmental follow-up appointment, Dr. Bernbaum suggested Adeline see a geneticist. Her reasoning - she has dismorphic features, is developmentally delayed, doesn't look like her parents (I beg to differ) and has low tone. Well getting into any genetics doc is a long and drawn out wait.
Our appointment was yesterday. We saw Dr. Gripp out of duPont and she was wonderful. Adeline was at her best - smiling, laughing and in general wooing everyone with her fabulous personality. Lila Grace also came and showed off her strength and abilities as she used just about everything in the exam room as a climbing apparatus.
Dr. Gripp spent a lot of time measuring Adeline's physical features, looking at both Alex and I and just getting a feel for the twins. She didn't immediately see any conclusive evidence but one syndrome seemed somewhat consistent with Adeline's physical and physiological characteristics. Adeline has a wide nose, a longer upper lip, puffiness under the eyes, is developmentally delayed, has suffered from cardiac issues, and has feeding problems to name a few. Although Dr. Gripp was reluctant to "clinically" diagnose Adeline, she is running a FISH test to determine whether or not Miss Belle has Williams Syndrome.
Williams syndrome is a rare genetic condition (estimated to occur in 1/7,500 births) which causes medical and developmental problems. Most notably, children with WS are cognitively impaired and most likely will not live independently as adults. I am by no means an expert on this syndrome and don't claim to understand what it would be like to raise a child with WS. You can read more about it at williams-syndrome.org.
In order to not belabor the obvious, we are struggling to come to terms with the possibility of our little Belle not leading a normals life. In our heart of hearts we are still hopeful that the test will come back negative. It will be a LONG wait (2-4 weeks).
During this time I am sure my emotions will ebb and flow. Ironically, it is the source of this worry that helps me regain composure. Adeline's smile helps me lose myself in the moment which is what I need.
This afternoon I was extremely tired. I had stayed up late reading blogs by parents raising children with WS. Lila Grace and Savannah were asleep so I was able to get some one on one time with Adeline. After some fun, I put her down for a nap in my room (consequence of the twins thinking nap time is playtime) and headed down stairs to the computer. After giving up in my search for "answers," I went upstairs to lay in my bed and listen to my little girl laugh and babble (obviously not sleeping). She was trying out her "S" sound for the first time and it was really cute. I am confident that I dozed off with a smile on my face. God works in mysterious ways!!
I love her completely - this will never change!!!
