[ Post a Response | 22q Deletion Interest Board ]
Posted by Deb Chase
on 5/18/2007, 11:53 pm
4.169.140.165
My son wasn't diagnosed until just before his 28th birthday. I hope that doesn't make you think it isn't important to read the rest of this. Those of you who have young children and teens can look to our situation and understand that we may be able to help you more than doctors in some ways. We traveled this road virtually alone and suspected a chromosomal anomally all along. We took him to doctors in two states, geneticists,cardiologists, internists, opthamologists, 7 different pedatricians,orthopaedists, and podiatrists. He had nine surgical procedures before his sixth birthday. We saw odd symptoms that doctors dismissed as not being related to anything, but of course they dismissed everything as unrelated. Our first foray into genetic counseling was terrifying and unproductive. Despite the fact that VCFS was discovered the year our son was born our geneticist was clueless. He described the oddities of heart, gastric, vision, muscle, joint, etc issues as multi-factorial, not connected. I was grilled as to what I did during my pregnancy that might have caused this. That was in 1979. We went to a geneticist again in 1984 and again in sept 2006. In 1984 we were told that nothing was found. however in 2006 a reference was found in my son's file to the fact that the doctor had thought initially that there was a possibility that my son might have VCFS but discounted it because he doesn't have a cleft palate. Luckily our new geneticist saw that there were too many indicators to dismiss this and ordered a Fish test. Our son was born with a pseudo-coarctated aorta, a ventricular septal defect, a bicuspid valve(should be tricuspid), a malrotated intestine with Ladd's bands, gi reflux that lasted until he was almost 2yrs old, cavus foot, tight heel cords, high arch, hammer toes, (reverse club foot) high arched palate, low side of normal muscle tone, strabismus, exotropia. double hernia, undecended testicle, feeding problems, unable to eat anything but strained babyfood until 2-3 years old without choking, fluid retention then bedwetting 2-3 times a night soaking everything, odd health issues like not being able to breathe through his nose or blow his nose, trips to the ER with undiagnosable stomach pain, unable to walk once for three days due to a "suspected" virus in his legs, learning disabilities particularly in the areas motor planning, visual memory, puzzle completion, math computation, time concepts, articulation problems, speech acquisition delay, animal sounds only until the age of 2 1/2 to 3(meaning oinking,mooing,barking,meowing etc)(sentences emerged at 5 yrs.
I hope this helps some of you to see that a diagnosis is power. Any diagnosis is hard. To this day when I happen upon a young family at the hospital with a sick child I'm transported back and it tugs at my being.
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