The Atypical HUS Foundation

Hi! I was diagnosed with AHUS in October. My genetic testing showed that I have a mutation in the CD46 gene, autosomal dominant. I have 4 children, each with a 50% chance of having aHUS. Does anyone have any opinions about getting a child in this situation tested before they show symptoms? At first I thought I didn't want it hanging over their heads, but maybe it would be better to know so if they do get sick they will be treated appropriately?

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My brother was diagnosed late last year and I have a 50% chance of having the same mutation. I've been giving a lot of thought to the question of being tested myself. If it comes back negative, that would be great, but if I had the same mutation then would I spend all the time worrying if it would trigger or not? I honestly don't know how I would react. My brothers nephrologist gave him a great answer when he asked about having me and his daughter tested: many people have a hard time dealing with the concept that they have a genetic disorder and it can ruin the quality of your life. Knowing that you have a blood relative with the disease is enough information so if you do get sick, then the hospital staff can make testing decisions immediately that will confirm or disprove whether you have the same issue. My brother took nearly 11 months to be diagnosed because doctors will always assume common ailments first, can't really fault then for that, 99.9% of the time they will be right. Just knowing that if I were taken sick I can give the doctors additional information that may help, has given me some peace of mind, I can focus more on living and less on worrying.
You didn't say how old your children are? If they stay healthy until adulthood ( and I hope that they do), then they could make up their own minds whether they want to be tested.

One other thought (funny how you always get that after you press the send button).

If you did have your children tested, and 1 came back positive, how would that make you feel and would you treat that 1 differently. Maybe that 1 would get better birthday presents than their siblings, or maybe you wouldn't want them to do "tough" stuff like their siblings. You could alienate the healthy children from their "might get sick" sibling. Love them all equally and allow them to be kids.

In the end it's your decision, but it's hard to close Pandora's box once it's opened.  

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Did you know...

CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
• • • • • • • • • • • •
It is estimated that there are about 2 cases of aHUS in the U.S. per 1,000,000 of population, and about 60% of aHUS patients are diagnosed as children. The condition is potentially life threatening, and either can be chronic or can recur at intervals.
more factoids...

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