My son was born on July 21, 2008 with a chromosome deletion 10p 14,15. I was told of the deletion when I was pregnant through an amniosentisis. I spoke with the pediatrician before my child was born. I told him of the risks that my OBGYN had advise me about. My son's pediatriatrition stated that he was going to refer me to a neurologist once my baby was born, which that never happend. When my son was born drs stated that everything was okay with him. Little by little problems began to arise. My son has a hearing loss from both ears that was detected after birth through the hearing test and AR. On March 31, 2009 my son was hospitalize because of a severe bronchitis. Drs ordered a CTscan of his chest and found out that not only his lungs were extremely congested, but that he has only 1 kidney (Atrophic left kidney). The right kidney is so undevelop that they consider it gone. His liver is a little enlarge and the spleen as well. Drs also ordered CBC and found out that his levels were extremely low. He was diagnosed with neutropenia. He went under treatment (CBC twice a wk for 6 wks). After 6 wks dr stated that his white cells were fluctuating and was considering doing a bone marrow test. He then ordered CBC's for 4wks and diagnose after that. At this time his liver is 3cm and spleen 3cm. He is 9 months and is very delay in his milestones. At this time he does not roll or stay on his stomach for a long period of time.
I live in El Paso, Tx and I am very concern about his health. I just keep getting reffered from dr to dr. Here in El Paso, Tx there is no local Genetesist and only 2 come to El Paso once a month. Ive seen the genetisist once since my son was born and no answers were given. I am willing to go out of state so my son can get treated. I am so desperate for answers. Can you please help me?
It must be very frustrating going from doctor to doctor, and we hope you are getting the support you need. We recommend that you return to genetics as new symptoms have developed since your last visit. If making an appointment with a medical geneticist in your area is difficult, you can find another medical geneticist by going to the American College of Medical Genetics website and using their zip code search. We wish you and your son the best.
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