Rare

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I gave birth to a baby boy 14 years ago. A few hours after birth I was informed that something was severely wrong with his heart( DORV, VSD, Bicuspid aortic valve, 80% blockage of the Aorta)- Complex Congenital Heart Defect.. Rare... 20% success rate... Life as I new it would never be the same. They found out my son had only one kidney several days after being transported to Cardinal Glennon Childrens Hospital ( His creatin level has skyrocketed to toxic levels so they did an entire body scan) thus prolonging his much needed 1st open heart surgery. He ended up having 2 open heart surgeries within his 1st two weeks of life. What a fighter he was from day one. He came home at 7 weeks old. My son failed to meet many milestones on time but physically looks like your typical average adorable baby boy. He had several minor surgeries before the age of 3(adnoids removed, tubs, tear duct prob both eyes, reinplantation of his ureter, surgery for non descending testicle, Tongue Tied surgery, a DING due to the reimplantation of the ureter surgery not working) however doctors didn't link these combined abnormalities with any condition. In time we noticed he didn't gain speech. My son received therapy seevice starting at age 1 for OT, PT and speech at 2. He picked up some signs which helped communicate needs. He had poor muscle tone and obvious sensory seeking behaviors ( mild) like chewing on everything, gagging on mushy foods, no tags in his clothes, socks bothered him. Toys never really amused him however he loved Thomas the Train. At 2 my son had is 3rd open heart surgery tgen at 6 his 4th both to remove scar tissue that had developed from the previous repairs ( subaortic stenosis) He was sick often untill about age 6. He didn't really use language untill 8. He was misdiagnosed at 5 with ADD ( inattentive).. I always felt there was more. I knew this wasn't what my son was dealing with. At 11 I found a developmental pediatrician that started us on our new journey. At 11 my son was diagnosed with Asperger's. High functioning. He also had processing delay and speech still Llmited. Is developmental pediatrician referred us to a genetic doctor for further testing. At that time our insurance didn't cover the test ( $20,000) and there was only a 30% chance of anything coming back positive so we opted out of it. In 2015 I received a call from the genetics department saying that our insurance will cover it testing needed to hopefully get more answers. It is called a whole exome sequencing dna testing. We went forward with it and in Feb of 2016 we got confirmation our son was positive Rubinstein Taybi Syndrome Ep300 mutation. The gentic doctor explanied how RARE this form of RTS is but he believed more and more people will be found with this version of it through this testing. As of our last appointment 22 cases documented in the International Journal Of Medicine, I believe less then 5% of RTS is Mp300 mutation. It is considered more mild then Crebb RTS but still very similar characterists, less on appearance which is why no one suspected he had RTS it in the past 13 years. My son, Jay, is now 14. He continues to amaze me with his strength, ability to always smile. His ability to gain language and skills continues. He is so much smarter then I think most understand. He is very good with factual information. He thrives on routine and displays some OCD tendencies. Haveing the correct diagnosis didn't change Jay, or how we treat him. Getting a diagnosis explained so much of what makes Jay, JAY! It helps us prepare somewhat for his future. 13 years is such a long time to go questioning yourself daily what caused all of these conditions with your child and I felt a sense of relief finally!! I love him exactly the way he is. My RARE Jay ❤