Another part of genetic testing back!

[MARCIA AGUALLO BAKER]

Hello everyone! We finally got some of the long awaiting genetic testing back on Ben and it looks like one of the test came back showing it is genetic. I am not sure which factor it is yet because my mom couldn't remember. This makes me very concerned for the other 2 children my brother has. Can anyone please fill me in on what this means when it is genetic? Does both parents have to be a carrier or just one? Also, what about my son. Is there any other family members like cousins that have gotten Atypical HUS? What should our next step be now that we know it is genetic. They are now talking about treating him with a cancer drug instead of the plasmapherisis now that they know it is genetic. I will be honest with you guys, I feel so sick and devastated right now. I cannot imagine anyone else in our family having this disease. We just don't know where to go from here!

[Phyllis Ann Talbot]

Hi - just to throw out there - not sure which cancer drug they are discussing - but I know Jodi Kayler's Coen tried Retuximab (not sure about spelling) a while back which is typically a drug used in treatment of certain cancers - and he had some success with it - again - this was before Soliris and I think his rsponse to Soliris has been markedly better than the response to Retuximab but Jodi can way in if she see's this. Wishing your entire family all our best!!!

[Cheryl Biermann]

Adding to what Linda shared, we have two immediate family members and Nathan testing positive for the MCP mutation gene; however, Nathan is to only one to have developed aHUS. The theory is that the location of the mutation on the MCP gene is benign-so knowing his particular MCP mutation is not known to be a factor in aHUS, University of Iowa continued to search his genetic make-up and found a second mutation in the Factor H Related, gene and this is what is causing his aHUS. We opted to test our yougest since none of the older kids were ever affected thus far. The MCP mutation is present, but is not causing aHUS. We feel somewhat safe as that is the only mutation. Even though the MCP mutation is thought to be benign, they do not want donors from the side of the family with MCP mutations, just in case. So sometimes, even with answers there are still questions.

No matter what the family decides regarding testing, I would encourage everyone to learn the symptoms and be very proactive when visiting a doctor or hospital with symptoms. Learn and ask for the tests that need to be done. A paren'ts perspective drop down tab on the home page is a good place to collect this information in one spot.

I'm curious, why are they opting to try a cancer drug for Ben? It is for the aHUS, or the heart condition? I've never heard that before, doesn't mean they don't know what they're doing, just means it's something I've not run accross before. Have they ruled out Solirs? I'm thinking since they are stopping plasma pheresis, it's for the aHUS. Have they contacted anyone on the Doc to Doc Registry yet? These doctors are ready, willing and able to share their expertise and insights.

We're all praying he gets the help he needs and feels better soon.

[Linda Burke]

Hi there!
Regular HUS is often a food-borne illness (think contaminated spinach or undercooked contaminated hamburger) that causes the same devasting results as atypical HUS (also called genetic HUS, recurrent HUS, etc). Usually just one parent is the carrier, although both is a possiblility - and sometimes cousins share the same genetic mutation. Some families have everyone in their immediate family-including adults- complete the expensive genetic screening once a single person is diagnosed with aHUS. Other families realize the situation but choose to deal with it quite differently, and chose not to test brothers/sisters/parents. (Check the Links Box on the Home Page - the genetic testing link to the U of Iowa's lab, and the Biermann's informational site at www.atypicalhus.50megs.com for additional info).
Some families have only one person who has a genetic mutation indicating potential for aHUS, other families have multiple members with a particular mutation. Once our son Hunter was diagnosed with aHUS at 10 months of age, we completed genetic screening for him (then offered only through Dr. Remuzzi's lab in Italy). When brother Skyler was born about 2 years later, we opted to test Skyler through the University of Iowa.......and yes, it was traumatic to learn that Skyler had the same factor H mutation as his big brother Hunter. Yet, when Skyler had a few worrisome symtoms 10 months after Hunter died, we got immediate treatment - thanks to everyone being on alert, knowing that Skyler had the same mutation.
A key first point for Ben's treatment is to ask how many aHUS patients they have treated. Most physicians can benefit from the "Doc to Doc" registry on this Home Page - please encourage them to tap into this valuable resource at the next step.