Viewing 6 posts - 1 through 6 (of 6 total)
  • #73961
    Pectus excavatum.. ooh LATIN!!

    Hi all,

    I was reading something a while back about an association with a particular form of MD and pectus excavatum (to the layman, funnel chest – a deformity of the chest wall) – I now cannot find the thing I was reading about it, but I have almost convinced myself that my partner HAS funnel chest, and therefore wonder if this is something we should mention to the specialist tomorrow. I have found tonight that EDMD and ‘landouzy-dejerine’ (FSHMD) can have this as a symptom, but neither of these seem to ring true for him. I could almost have been certain there was a form of LGMD which had funnel chest as a potential symptom, but I cannot find it now!!

    Appreciate any help you guys can give me.. I’m driving myself up the wall!

    AP

    AngelicPrincess
    Participant
    Posts: 85
    Joined: 21/12/2010
    #82232
    Re: Pectus excavatum.. ooh LATIN!!

    I guess I am hoping that by being able to supply as many symptoms as possible, we might be able to get a diagnosis (or as close as possible to one) even after the inconclusive biopsy..

    We now have cardiac involvement confirmed, respiratory difficulties at night time confirmed, possible funnel chest (having seen his chest on several occasions I’m almost 100% sure this is the case), lumbar lordosis, scoliosis and self admitted “tongue tie”.. having one female affected cousin, but no other affected family members.. we can at least rule some out. Hopefully specialist tomorrow will be helpful. *cross fingers*

    I’m allowed to ask lots of questions though.. because we do want kids.. so would like to know if PIGD is possible without a diagnosis.

    AngelicPrincess
    Participant
    Posts: 85
    Joined: 21/12/2010
    #82233
    Re: Pectus excavatum.. ooh LATIN!!

    Yes ask questions – write them down, your consultant can always have that piece of paper and write back to you.

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #82234
    Re: Pectus excavatum.. ooh LATIN!!

    Good idea. Make a written list of the questions. (do not lose the list like I did).

    You are probably aware of the advances in PGD. We have a poster
    here (Shona) who is a real expert if you need advice on that.

    "Even if you are not paranoid, it does not mean they are not out to get you!".

    taungfox
    Participant
    Posts: 4,630
    Joined: 27/09/2010
    #82235
    Re: Pectus excavatum.. ooh LATIN!!

    Taungfox, I do know a little about PIGD (PGD whatever you like lol).. unfortunately as confirmed by the specialist, PGD only works when you have been able to isolate the genetic cause for MD. In our case, we have no conclusive diagnosis of the MD, so we’re stuck, even with PGD.

    Anyway, all isn’t lost. We now have an appointment with the geneticist to discuss this stuff with him and possibly start some mapping. I’m hoping at least to get an idea of whether it’s recessive, dominant or different.. even if we have no official diagnosis. I’m quietly hopeful that it’s recessive, as neither of his parents is affected, and neither his aunty or uncle (parents of his affected cousin) are affected, and one parent would have to be affected for it to be dominant.

    *Fingers crossed*

    AngelicPrincess
    Participant
    Posts: 85
    Joined: 21/12/2010
    #82236
    Re: Pectus excavatum.. ooh LATIN!!

    Fingers crossed indeed.

    Recessive would be good. You are so right to be really making an effort to think
    ahead and come up with every possible relevant symptom so as to aid the
    specialists in diagnosis. It is early days in the diagnosis of a lot of the rarer
    conditions so I am sure the consultans appreciate such efforts. Then maybe things like
    PGD will kick in and solve so many problems.

    "Even if you are not paranoid, it does not mean they are not out to get you!".

    taungfox
    Participant
    Posts: 4,630
    Joined: 27/09/2010
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