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Saturday, February 25, 2017
Inherited Disorders and Birth Defects
Should we have genetic testing?
I recently had a hospitalization from a severe headache, fever [101, 102 over five days with night sweats, neurological difficulty], intractible vomiting, arthralgia, stiff neck, sore throat swollen glands over a month, LDH 212, MCV 97, NCH 35, MPV 7.0 fl, Segmented Neutrophils 77%, Lymphocytes low at 18% rest of CBC with diff in range. Artralgia and severe headache [8/10] persisted for over a month. CTA shows just a very small growth on my thyroid and very small anuyersm. In the past ferratin levels were low, and I struggle with malaise continually, I had tonsils out due to strep for over 1yr as a child,and struggle with arthralgia on and off. RF negative, ANA Negative, TSH 4.12, Lyme 1.45 then a week later .34, sed rate 8, Clear CSF, . Daughter has struggled with severe lung infections [CF negative, IGa, IGm, EBV all normal, negative]and recently mucous plugging [20 of them :( at age four], not able to fight off colds and illness [multiple hospitalizations], son has motor dyspraxia, severe allergies and prone to infection, he gets near it he seems to get it....Should we get genetic testing and for what?...we are spending so much each year on doctor visits from serious illnesses already.
You have a very complicated history and it is not possible for me to suggest specific genetic testing. What needs to be sorted out is whether or not the types of problems that you and your children have had fit into a genetic disorder. I would highly recommend that you speak to a geneticist to try and help you sort this out. You can ask your doctor for a referral or find a genetics center near you at the National Society of Genetic Counselors' Resource website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University