My son, Jeff was born on November 23, 1992 and we immediately knew he had a cleft of the soft palate and low calcium levels. We were told that nothing else was wrong with our son. We took him home on Thanksgiving Day that year and he immediately began having feeding problems.
We struggled with these feeding problems for a few months even though we were constantly taking him to see the pediatrician. We finally ended up at Children???s Hospital in Omaha, NE, because Jeff was failing to thrive. We began feeding Jeff through an NG tube and hoped that our struggles were over.
They were not. The feeding issues improved, but his constant infections and croupy cough continued to worsen. It wasn???t until Jeff was six years old that everything fell into place. The doctor that had been treating Jeff for asthma knew that there was something else wrong with Jeff and sent us to see a pulmonologist in Omaha.
After a chest x-ray and many other tests, it was discovered that Jeff had a right sided aortic arch and vascular ring (which is a ring of vessels tightly surrounding Jeff???s trachea and esophagus). At that point the 22q FISH test was ordered and came back positive. The diagnosis explained everything that had been wrong with Jeff over the years: feeding difficulties, immune system deficiency, breathing difficulties and croupy cough!
A month later Jeff had surgery to separate the vascular ring and things began to improve. Jeff???s aorta will always compress his trachea and esophagus, but it doesn???t ever seem to slow him down. He???s an awesome young man who has made our lives amazing.
Jeff also has developmental disabilities and still lives at home. He is working hard on his living skills with his staff and hopes to move out in the near future. We will be his guardians until we???re gone and then his sister Michelle will take over. When he moves out he will still have staff that will help him with cooking, cleaning, grocery shopping and things like that.
We started a Nonprofit Foundation and Support Group called Mission 22q. Our website is Mission22q.org. We also have a facebook page you can visit by searching for Mission 22q on facebook. My hope is that Mission 22q will make sure that no other families have to go through what we did the first six years of Jeff???s life! We want to educate the world about this syndrome!