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malabsorption and congenital metabolic disorders
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malabsorption and congenital metabolic disorders

I am the 57 yo mom of two teenagers. After a lifetime of medical complaints (various autoimmune symptoms or dx plus major fatigue and periods of brain fog and severe atrial fibrillaiton)  we all had micronutrient testing recently. My daughter and I both had alarming results, with severe deficiencies (my son's were disconcerting but not as bad). My dd also had high levels of toxins in her system. These toxins were all things she has either no  exposure to or much less than the average person. her report suggested they can also come from undigested amino acids stagnating in her fats and becoming toxic. My tests showed deficiencies in numrous areas. both reports suggested all the logical anticipted remedies, if our lifestyle habits are bad, but said that if those don't work to refer us to a center that specializes in congenital  metabolic defects. Our GP told us this is out of her expertise, so she made an appointment to consult with doctors from the lab (Genova Diagnostics). It took a while to get one, but I believe that appointment happens this week. Meanwhile, my dd has gotten very sick with a bug, and slept 24 hours a day for 2 weeks, and is still very weak a week later. Blood tests showed low white blood cells (absolute neutrophills, 1316 L, absolute lymphocytes, 363 L & absolute bosinophils 2 L) and she was hypothroid. She turns 16 next week. We are waiting preliminary test results to rule out now  Lupus, whch her paternal grandmotehr and great uncle died of, and leukemia which her maternal great aunt and my cousin died of. Both my children have been dxed with generalized anxiety with mild OCD. My son has a long history of mood disorders (he also falls in the exceptionally/profoundly gifted range, and mood/personality disorders are common with that population). I have such severe a-fib that nurses have told me they've never seen anyone with my EKG be responsive, however our standard blood panel is usually close to ideal. My first grade school nurse was adamant that my brother and I were malnourished, but bloodwork 'proved' her wrong. However, I have never felt well and alert, and have lookd for someone to look deeper than those blood tests my whole life.  

My doctor believes we have a genetic disorder that blocks absorption of protein and fats. Not just the three of us. Most of my relatives who descended from my paternal grandfather share our medical history, and some have gotten seriously ill and died from autoimmune disorders such as leukemia, ALS, colon cancer. Nearly all of us are hypothyroid and have atrial fibrillation. at least three have had Alzheimers, and most of us had early onset migraines. Our most common body type is very tall, very thin (underweight) until age 30, and then rapid weight gain. There are several suspected and a few confirmed cases of mental illness. We are a tiny family (fewer than 150 people with my maiden name have been born worldwide since 1900), from a tiny island ( 25 km square). this makes it  quite possible we have a very rare condition, perhaps never identified.

My doctor supports my researching this and that is what I have been trying to do, but most cases I find of metabolic disorders show up in newborns. Our family is outdoorsy and most members appear robust, with few diagnosed serious illnesses, other than one baby that got leukemia at 6 months.

Any suggestions or ideas as to what this might be or where to begin searching?

Many thanks
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