GENETIC DISORDERS EXPERT FORUM
Chromosome deletion

Chromosome deletion

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?
Thank you
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It can be very frustrating going from specialist to specialist, especially when it is about the health of your own child. We recommend that you return to a medical geneticist to discuss your son’s current health problems, and the possible abnormalities associated with a deletion in that region of chromosome 10. One syndrome that is associated with that region is called hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome.

A medical geneticist can be found by going to the American College of Medical Genetics website.
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