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Genetics Appointment Tomorrow

zoeyandsummersmomzoeyandsummersmom member
in Special Needs

Anxiety is starting to build as we see the geneticist for the first time tomorrow to see if DD's eating/weight gain issues are from a genetic issue or if they are solely from her brain injury. This is one of the last stones to overturn for us and it is very bittersweet that we are going on DD's birthday.

What should we expect?

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Re: Genetics Appointment Tomorrow

  • realisticdreamsrealisticdreams member
    imagedcmetrobride:

    Anxiety is starting to build as we see the geneticist for the first time tomorrow to see if DD's eating/weight gain issues are from a genetic issue or if they are solely from her brain injury. This is one of the last stones to overturn for us and it is very bittersweet that we are going on DD's birthday.

    What should we expect?

    They will probably want all her medical records (which if they don't already have they will have you fill out forms and look at them once they arrive).  They will ask for an extensive family history and any diagnosis/meidcal issues they have.  (your parents/grandparents/cousins/aunts/etc).  It will be  ALOT of questions, and then you can express your concerns, etc.  They will also do a full body exam to look for birth marks.  Likely they will order labs, the new in thing for genetics test is the SNP micro-array which takes about 4 weeks to get back I believe.   Some tests can take  A LOT longer...months, if they have something specific in mind to test for.  

    Good luck!

    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


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