Wow. It's hard to believe that a full year has passed since we got the call. I still remember the call like it was yesterday.
Rewinding a bit.
When the Genetics Clinic received our referral they had a Genetic Counselor call me to basically do a bit of a phone interview. She asked what were the major concerns, basic birth information, and said that they would order three preliminary tests to be completed at the hospital the next time we were there. The wait list to get in to the Genetics Clinic was six to nine months, they would try and get us in sooner depending on results of these tests. The three tests were
Fragile X Syndrome,
Chromosome Analysis, and
Microarray Analysis. After an OT feeding evaluation for T, on April 19th, we went down to the lab and had her blood drawn for these. We then began the waiting game.
11 days later I got "the call". It was the same Genetics Counselor who did the phone interview with me earlier in the month. She started out by saying that she didn't usually make this phone call as they don't usually find anything during these tests but there had been "something" show up on T's.
(I personally had pursued genetic testing because I thought she had Mosaic Down Syndrome, which would show up on the Chromosome Analysis.) She then went on to tell me that during the microarray analysis they discovered a deletion on the short arm of Chromosome 16. She told me to get a pen and paper so I could "write this down"...
16p11.2 Microdeletion Syndrome ...as I was writing that I thought to myself, what the heck is that and how the heck am I ever going to remember that?! She told me it was the cause of her macrocephaly, developmental delay, and problems down the road may be Autism Spectrum Disorder and Obesity. She also gave me a website,
Unique, where I could get more detailed information. She said that because there were answers she would be able to schedule T an appointment in the Genetics Clinic sooner than the six to nine month wait we had previously discussed. T's appointment would be scheduled for the day following her first birthday, June 28th, so the wait was only approximately 3 months total-not too bad.
At the end of the phone call I thanked her. There was a pause on her end and she replied "I've never had a parent thank me before for delivering news like this". For nine months I had been ignored, told I was just comparing, told that she was just Baby B, told that she was just premature.... Basically I had been told that I was wrong every which way you want to tell someone they are wrong, when I wasn't. I knew something wasn't wrong, but something wasn't right and until she called with those answers I had nothing to back myself up. Now I did, I had answers, scientific answers. I was thankful for those answers because it would help me get help for T, help that I knew she needed/would need. She told me she was happy that she could help T the way she did and that was the end of our call.
Present Day.
Here we are, one year later. One year and so much more information later. A support group, a trip to Chicago, to Boston, and soon to be to Florida to learn more. Her diagnoses is still a new one in the medical world so everyone is still learning about it. More specialists have been added to the list to help her along the way-Cardiology, Neurology, Ophthalmology, Developmental Pediatrician, an
orthosis, and of course the therapists.
There are still many little things that she deals with on a daily basis that we don't know a lot about, haven't been able to treat but she has made great gains in the last 365 days!
She went from a baby that was unable to move off of her back until she was ten months old to a walking toddler who loves to keep up with her twin! And can climb up things like a pro! Her overall motor skills have made great strides and she continues to grow in fine motor definitely! The biggest areas of concern currently are her expressive/receptive language disorder, GI complications, and her abnormal gait. I'm happy to report that've made progress in two of those three areas. We've begun using picture cards as her form of communication (post to come later on that) and she wears SMOs to help with her gait (post to come later on that too).
She has made me so proud, watching her overcome so much in a years time, all with a smile on her face! T loves life, plain and simple. While my heart aches for her and the challenges she faces she doesn't seem to mind them at all, she doesn't know any different, she is happy and sassy all the same! Proud of her abilities, determination, and personality! Bring on the next 365 days!
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