aHUS and joint issues

[Kerri Grey]

Hi i was just wondering if anyone knows or has experienced whether or not aHUS can be linked with joint issues. I ask because my daughter had an appointment at our childrens hospital yesterday because she can not rotate her arms so that her palms can face upwards. They did xrays and it showed that she has no joint in her elbow and her 2 forearm bones are fused together. We have now been refered to a different specialist and a genetisist because they said that the type of thing she has is commonly linked to a genetic mutation. So, needless to say i am now so scared that she too will have aHUS.

[Jessica Olivia Frysz]

Kerri,
I haven't heard anything like that with aHUS and I have aHUS myself. I also have the factor H mutation and haven't had any joint issues with my aHUS, except for having knock knee when I was younger, but that was because of other things, not sure if it had anything to do with my aHUS, probably was, but it also had something to do with my development.

[Kerri Grey]

Thanks Linda and Cheryl, the docs started talking about genetic mutations and checking her kidneys and all other stuff and i automatically just start panicking that she is going to have the same thing as Ash. I know that it might be something else but as you said Linda we are our own worst enemy and always think the worst!!! Given that we dont know what genetic mutation Ash has im guessing they wont be able to test to see if Tahlia has it or not??? So we will just have to hope that she stays well and doesnt present with any symptoms... Thanks again guys for your support, it is so good to be abke to bounce these concerns off people that know the most about aHUS!!!

[Cheryl Biermann]

Hi Kerri,

So sorry she has this problem, but I've never heard of anything like this conncected with aHUS. Each genetic mutation may have other diseases or injury it may cause to a person's body, for example Factor H is a known problem in Lupus, arthritis and aHUS.

Our immediate family has epilepsy in two people. We also have two cousins with epilepsy, so obviously it is familial in some way. By all means, test for whatever they are recommending, and if, for your own peace of mind, you decide to test her for aHUS as well, it will help you deal with your questions. Good luck, we will pray for her.

[Linda Burke]

Oh my, Kerri - I'm sorry that this new concern has popped up on your radar. The first thing I thought of when I read your post was, "Thank goodness she has Kerri for a mother!" I feel sure that you will leave no stone unturned in regard to your daughter's health, learning more about her condition and carefully considering any medical advice.
While it's most usual for us to mentally leap from one scary scenario to the next, we mothers can be our own worst enemy with possible scenarios to worry about..... It would be highly unlikely that this bone/joint issue heralds other mutations, although I can understand your worry about the genetic link with aHUS. Perhaps someone can weigh in otherwise, but I know of no literature that would suggest such a link between these genetic mutations.
Still, you've have more than enough to worry about - so give your precious daughter an extra hug and find a lovely, fun activity for her to do with Ash. Arm yourself with information, consider opinions carefully, and then try to lighten your day by gazing at the cute smiles of your two beautiful children. Enjoy their hugs for you!