from Brady's mom
I had a normal pregnancy until right around 22 weeks - we were told Brady may have trisomy 18 and the specialist told us it was "incompatible with life." We immediately did an ultrasound which came back (after a long wait over the Christmas holiday) that all was normal. I didn't give it another thought - I was just so thankful.
Delivery was somewhat eventful, but I don't think that had to do with PSS - I woke up with my first contraction at 6:00 AM and was in the hospital with Brady in my arms by 7:00 AM. While a friend was visiting us in the hospital we noticed Brady had two bulges on the top of his head. I quickly pointed it out to the medical staff who told us it was nothing. It continued to worry me and I pushed - so our doctor referred us to a neurosurgeon. After reviewing the CT scan he told us that is was bi-parietal foramina and that it should close up on its own - we did tests for Craniosynostosis which came back negative. Again, relief took over and I returned to my happy state.
Brady was a super sleepy and content baby. I thought he was sleepier than his big brother, but really noticed it when I was with my Moms group and all the other babies were fussy and mine just slept. I should have been thankful, but I was worried.
I had my list of concerns ready at the 6 week check up and expected to be told I was overreacting, but instead the pediatrician told us they found something on his CT scan - he was missing his Corpus Callosum. She told us that after her research she couldn't tell us much - kids with this condition vary from almost completely normal to profoundly impacted. The real fear set in! I was also really angry that the neurosurgeon didn't catch it when he looked at the CT scan. My first real glimpse into the fact that medical professionals are not all "gods". I had to be Brady's advocate. A visit to a neurologist wasn't any more helpful. He just held Brady up, tilted him and said "Yes, there is something wrong with this baby." He didn't know what it was though.
Within 3 weeks I found an ACC (Agenesis of the Corpus Callosum) support group and attended their national conference with Brady in tow. I must have been determined to make it through two flights alone with an infant. I didn't learn much except that my pediatrician was right - there were kids with almost no normal functions and kids who were in college and just socially awkward.
We went for genetic testing when Brady was 8 or 10 weeks and had an amazing Geneticist. He thought it might be PSS, tested for it and Brady was diagnosed with Potocki Shaffer Syndrome. Like the ACC diagnosis this still didn't tell us much.
Our experience with Brady has been that he reaches all his milestones in "Brady time" but he does reach them. It took him much longer than I wanted to engage with me, but once he did it was amazing. He was (and is) SO social. When we had testing done he scored well below age level on everything BUT socialization. He was on age level there. He loved all his therapy and I think decided every time he came in contact with a new adult they were there to "play" with him. He just loved (loves) people and get so excited to meet new people. He has a great memory for names.
We have a lot to be thankful for with a PSS diagnosis - there aren't any serious medical issues. So far the only medical issues we have faced are the exostosis, the ACC and vision. We didn't have any feeding issues with Brady although the therapists all thought we would. He is a great eater!! As you can probably tell from his pictures.
Our son Walker was 20 months old when Brady was born. Walker hit all his milestones early and they called him Walker Talker in pre-school. He loves his brother and was a big help during all Brady's therapies when they were little. Walker would model the skill and try to help Brady do it.
We had the amazing opportunity to meet Dr. Potocki in 2002 when Brady was 13 months old. We traveled to Texas Children's Hospital and spent a week there as part of a PSS study. Brady went through every test imaginable. While we didn't learn a lot about his PSS we did learn his heart, lungs, kidneys and all the other parts were in good order. I think the study was meant to help Dr. Potocki identify the issues that go with PSS. She was wonderful. I don't think they have done much more study since the one in 2002 - at least if they have I haven't been able to see any of it. She did give me news I didn't want to hear - that was that Brady would have some level of mental retardation ( I hate to even type that word). He does, but now it doesn't even matter to me. He is our angel and joy.
Brady walks, talks and is mostly potty trained (still wears pull-ups at night) He walked a little after 2. He started saying words around 3 and was speaking in short sentences at 5. Everything was significantly behind, but he did get there! He is in school in a special classroom. His fellow students have a variety of diagnoses; Downs Syndrome, Autism, Williams Syndrome and others. At 11, Brady knows his ABC's and numbers (has for several years) and has quite a few sight words. He struggles with writing.
We are just now dealing with the exostoses. Because our pediatrician didn't want to expose him to unnecessary x-rays (I agreed) we didn't find out he had developed them until he was around 7 - he fell on a trampoline and twisted his knee. He had an x-ray in the emergency room and they showed up.
We finally got a pediatric geneticist in Tallahassee so we started a relationship with her about a year ago. She wanted full body x-rays to get a feel for the exostoses. They are on his ankles, knees, shoulder blades and more. They don't bother him, but are causing some issues with his legs. The side of the leg and ankle with exostoses is growing more slowly so we are going to have a surgery this December. It is supposed to be outpatient with a quick recovery.
When we first learned of his diagnosis and began this journey I was devastated - I felt like I lost a child. I did lose what I thought it would be like, but gained something so wonderful. I have seen the best (and worst) in people. I am so lucky to be his parent. He is so loving - often just giving me kisses and hugs for no reason.
Brady can be challenging - my greatest hope right now is to be able to reason with him. When I tell him no it is difficult for him to understand and he gets very frustrated and loud. At 150 pounds I can't just lift him up and carry him off (my Husband still can but barely). Redirecting him works sometimes and the ipad is the greatest invention of all time! He can work it mostly by himself and loves watching youtube videos of babies, dogs, Barney, Blues Clues, Scooby Doo and more!
I look forward to giving hope to others navigating this journey. It isn't easy, but it is worth it. Our children are gifts from God!