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Here is our story of our beautiful son Alex.
He was born 6 weeks early due to complication with me. Blood pressure and kidney issues to name a few. We learned he presented with a cleft lip and palate during a routine ultra sound; that was devastating for us. But, we moved past that and found an angel, "Dr. James Ellis Bertz" a DDS MD FACS of Scottsdale, Arizona. He was able to give us a piece of mind and we were able to enjoy a few more week of my pregnancy. One of my tests came back and was thought to be a marker for Trisomy 18 and spinal bifida, that lead us to perinatology and neonatology. We were encouraged to give much thought and consideration to the rest of the pregnancy as Trisomy children often have significant brith defects. We decided he was our son and would love him the way he was. He was born on January 24, 2008, weighing 5 pounds and 10 ounces. He was perfect! He did have a cleft lip and palate, he did have trouble feeding, he did cry like it was his job, but he was ours, all ours....
The next few months proved to be nothing less than concerning and confusing. He presented with so many anomalies, from breathing, feeding, sleep apnea, sensory sensitivities, GI, VSD, vision, hearing, etc. He was hospitalized at 7 weeks with RSV, unfortunately, he was quite a sight for interns and new resident doctors who had never seen a patient with a clip lip and palate.
He had his first cleft lip repair at 12 weeks to aid in an adequate swallow to eat and hopefully thrive. He had trouble coming out of anesthesia. He finally came through and the surgery did it was supposed to. He began to gain weight but the nasal regurgitation was too much, so he had his palate repaired as best as it could be. He went through a number of lip, palate and fistula repairs over the next few years.
On Alex's third birthday we found that he in fact had 22q11.2 micro duplication syndrome. It was the best advice I was given from DDD support coordinator given me. He felt something wasn't quite right and felt a visit to a developmental pediatrician was warranted. This was the beginning to our 22q journey.
We had difficulty finding any literature regarding 22q and we were told that Alex was the 65th person in the world or documented to have 22q11.2 micro duplication syndrome. We sought the advice of a genetic counselor, but we she had exactly the same information that we found online. We were told to try and find a hospital anywhere in the nation and see what information they had. We were disappointed several times, we were told that they simply did not have enough information for us. We were so fortunate to have been accepted by CHOP (Children's Hospital of Philadelphia). We were invited to the 22q Clinic, where we learned more in that week than we ever knew possible. They had the most research and physicians understood what I was explaining, physicians that didn't look at me like I was insane! I had found the place that would teach us about all that accompanied 22q patients. The wealth of information was impressive and appreciated.
Over the years we noticed he wasn't babbling or saying words, he was very sensory and appeared to some type of seizure activity. He developed a small bump on the side of head, we fought for it to be scanned but all we got was an extra that stated he was not quite symmetrical. I decided we needed a scan and found one neurologist that agreed and that's were they found that Alex had a Chiari Malformation. This was the cause to seizure activity, the imbalance in his gait, the inability to safely swallow and speak. At four years old he had the decompression surgery to relieve pressure around his brain, the dura was opened and the first vertebrae was removed. He was the first kid in Phoenix Children's Hospital history to go home as soon as he did (he has an extremely high pain tolerance!). With this surgery, he brightened up like a wilted flower that just received a gallon of water. He was speaking and eating without choking and was alert!
Fast forward to today, Alex is a vibrant, resilient kid who does't look like he has ASD or a disability. Instead we focus and celebrate on all of his accomplishments! We employ our advocate (Donna Cutler-Landsman) from the 22q Family Foundation. She is experienced and knows what accommodations a child with 22q needs and helps educators understand the variations of the syndrome.
This is a rough journey and I couldn't have navigated thus far without the expertise, compassion and knowledge of our 22q team!