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Left the geneticist feeling relieved, hubby deflated that:(

After 4 neurologists, countless pokes and tests, and 12 years, (along with bouts of blaming myself) we have a diagnosis for our son. Jacobsen's syndrome. But, hubby looked it up, and decided it's wrong. Wrong because with this syndrome, the gene deletion goes to the end of the chromosome, and our sons does not. His is interstitial. Yet, the genetics doctor said this is the Dx. That it isn't any of the other syndromes under the gene deletion on this specific chromosome. Now I'm sad. I know not to always believe what's online. He found it from research done in Europe. I'm frustrated. So, this is a place for questions, has ANYONE heard of this? Jacobsen's syndrome? Does anyone have a child with this Dx?

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Raine2001

Asked by Raine2001 at 6:04 PM on Oct. 20, 2010 in Kids' Health

Level 25 (24,018 Credits)
Answers (8)
  • I think that if you have questions you should ask the doc. It would be easier to determine if he does not have it now rather than later, diagnositics can be hard to erase, id call the doc up, tell him what you read, and ask whats going on.
    mommyofAurora

    Answer by mommyofAurora at 6:09 PM on Oct. 20, 2010

  • Ugg, Jacobsen syndrome, not with the * 's *. Do you know, when we were stationed at Ft. Eustis, I read about Dr. Ben Carson. He's at John's Hopkins, but I didn't know he was a surgeon at the time. He's like, one of the best peds neurologists. They take Tricare there. So, I went to the doc at our clinic to get a referral. That doc told me that the Army would not waste the money to send us there (yes, he said waste), that the damage was done. Now, I want to go back there, with this info, and shove it in his face. With all the lovely respect he showed us.
    We did go, to John's Hopkins. Didn't get us anywhere though.
    Raine2001

    Comment by Raine2001 (original poster) at 6:10 PM on Oct. 20, 2010

  • Im sorry hunny. I know how hard it is, but you probably know much better than i do. My 1 1/2 year old has seizures, and is just.. lets say different and slower... havent had any form of diagnosis exept "seizures". They put it off because shes so younge and say things like "she will probably grow out of it" and "your a young mom, your worrying to much"... no im not. This is my 2nd kid, she acts different!!!! Im sorry your having doubts but the best advice i have is, call the doc. Tell him what your hubby found, and ask him whats going on.
    mommyofAurora

    Answer by mommyofAurora at 6:14 PM on Oct. 20, 2010

  • We go see the neurologist in 2 weeks, I'm going to talk with him, too. But, I'm going to see if I can get the genetics docs email, that will be easier to contact her. Rather then try to get her on the phone. This hospital is about an hour and half drive away. I am going to talk with her about it, but I'm sure she's going to stand by her Dx. She's not a nurse. She's a doctor. In genetics! My hubby is...a soldier. So, IDK. Anywho, this is just frustrating me. And, I want us to be genetically tested, he doesn't. I do because there is a small chance it's not a fluke. If it's not, there are still baby making ppl in our family that MAY like to know. He thinks I will blame myself. I think he's worried about blaming himself. It's important to know. I don't want anyone else to go through what we did.
    Raine2001

    Comment by Raine2001 (original poster) at 6:29 PM on Oct. 20, 2010

  • Were going to do genitics in December, i want to know for our childrens children. I dont think theres anyone to blame, its not your fault. Keep your head up hunny. What are the symtoms of jacobsen sydrom?
    mommyofAurora

    Answer by mommyofAurora at 6:45 PM on Oct. 20, 2010

  • just want to say I hope you get your answers
    Ashlynnsmommy07

    Answer by Ashlynnsmommy07 at 11:45 AM on Oct. 21, 2010

  • I think you should get a second opinion.
    _Tam_

    Answer by _Tam_ at 1:20 AM on Oct. 24, 2010

  • I'm sorry. Good lucking finding the info.
    PhilsBabyMama

    Answer by PhilsBabyMama at 7:27 PM on Oct. 25, 2010

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