Discussions By Condition: Rare Disases

My Daughter

Posted In: Rare Disases 4 Replies
  • Posted By: Anonymous
  • September 11, 2006
  • 00:35 AM

I have a daughter that has a chromosome abnormality called partial trisomy 7 I know what this means, but I have a great deal of difficulty finding a Dr. that will listen to the symptoms that my daughter has or to my knowledge about her problem. I would like to know am I the only unlucky parent or do other parents with special children have the same kind of problems. I love my daughter, but it is very frustrating to have to do all the research on her symptoms and then tell the Dr. what test to run and why. How come it is that the Dr. can not take the time to look up what possible problems a particular chromosome abnormality has so that he will be knowledgeable about his patients?

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4 Replies:

  • Im sorry to hear what your going through and I know where your comming from because I can't seem to find an answer either . I am 19 and I have had this defect since birth, I have a translocation of the 7 that broke and is stuck to the 11 and they still can't figure anything out ... now I am 19 and I have lost my hearing neg60 both ears and I also found out that I was born with all my organs and everything looks normal on the films but i was born with out a virgina ( at least not one that is connected to anything ) . they tell me that my Uterus is connected to my blader so this is where I have my periods ..ya out the blader. can you beleave it? I will never be able to have kids and they also say that I will need an opperation to remove the Uterus,I am not sure what else I can do except to ask for my guts to be removed so I am not sick anymore. the Dr's here have no clue... I may end up checking into the Mayo Clinic and spend some time there to see if anyone there can help. good luck on your end as well ...cocoa
    Anonymous 42789 Replies
    • September 14, 2006
    • 03:39 PM
    • 0
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  • Hello. I have a 2 year old daughter that was diagnosed with 7p trisomy when she was 6 months old. She has a mild case. She can walk. Has asthma THEY SAY. Metatarsus Verus of left foot (toes curl in really bad). Has had bronchiolitis 6 times since 4 months old. One time really bad in hosp.. for 3 days on oxygen. She does physical therapy, occupational therapy, developmental therapy, and speech once each a week. She has some of the features of this chromosome abnormality. Nothing major. Soft spot still not closed, broad forehead, short statured, high palate (eats good, though), privates a little different (nothing major just spaced different). Her 7 was broke off and put down so it looked like there was 3 number 21's. All of her doctors are really good with everything. We are from Warsaw, Indiana. OH! Developmentally they say she is a year behind.
    bethany762000 1 Replies Flag this Response
  • My husband has a very rare disease and for years we struggled to find the right treatments and doctors for him. My advice is to look where the research is being done on the disorder. Its usually a teaching hospital and chances are you will find a geneticist researcher who knows about the condition. Find out if they are accepting patients. If they are try to get them in. Once my husband starting seeing the genetcist, he coridinates his care with all the rest of his doctors. I no longer have to worry that he is getting the right treatments or even the most up to date treatments. It has made all the difference in the world in getting him proper treatment as the doctor is more willing to listen to a specialist than a relative. Even though its a 4 hour drive to see the geneticist we only have to see him once every 6 months and we keep in touch via phone and email on his condition. His doctors all have his number and consult with him about treatments for my husband so he can be treated locally. I hope this helps you out.
    Anonymous 42789 Replies Flag this Response
  • www.rarechromo.org is a fabulous group of people, dr's and patients, parents of patients, who support and share info on disorders like trisomy 7.The group is called Unique, Beverly is the lady you'll sign up with, and you can receive newsletters, online forums, info on disorders, etc. Bev's daughter has a rare chromo disorder, so she really understands. Best wishes
    Anonymous 42789 Replies Flag this Response
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