Special Needs

Geneticist appointment coming up

What should I expect? I figure it will be a lengthy visit? Will they do blood work right then and there? Thanks!

Re: Geneticist appointment coming up

  • We had to go back for bloodwork to make sure insurance picked up the tab. It wasn't a super lengthy visit for us but we had gone to the neurodevelopmental pedi who happened to be in the same practice so she had some info on dd. mostly going through family history, thoroughly examined her body and that was about it.
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  • They will want family tree history from both parents and any dx that those people had, etc.  And do a physical exam of the child, and then labs if needed.  It can be kind of long because you talk to the counselor first usually and then the doctor.
    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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  • DD's first visit (which was kind of a sprung on MY bio-med geneticist) included physical exam, history of course but with my 30 years in the clinic they kind of had that except for her paternal side, they did a urine bag per still in diapers, and a basic panel of amino acids - we haven't had any genetics blood work done yet but have follow up in January. 
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