The Atypical HUS Foundation

 Over the past couple of years, new information about atypical HUS has been slowly filtering from the research and clinical arenas into journal article and research papers available to patients and their families.  Along with this new information has come the need to dispel commonly held information that now needs to be updated to reflect current medical fact.

*  Adults can be diagnosed with atypical HUS.

*  aHUS affects not only the kidneys, but damage can also occur in other vital organs such as the heart and brain.

*  Since aHUS is in the patient's genes, indivduals need to recognize that aHUS is an ongoing concern to be followed in their medical care plan.

*  Doctors do not need to identify a genetic mutation to begin treating an aHUS patients.

     While our name may be The Foundation for Children with Atypical HUS, we recognize there is an adult population of atypical HUS patients that is large and that faces special challenges.  Adults face workplace issues, childcare concerns, and family dymanics in addition to the usual rigors of treatment that are shared across all ages and demographics.  When the family's income, insurance, and head-of-household duties are in disarray due to the illness of a mother, father, or spouse - the entire family unit faces major issues.  Who advocates for the adult aHUS patient when illness strikes?

     To emphasize the special needs and concerns of the aHUS community, we'd like to invite our adult aHUS patients to share their journey at a special gathering spot, this new "Adults with aHUS" Forum, where you can meet other aHUS patients age 18 years and older to share information and support.  We welcome your participation - please add your voice!

Connect with global aHUS adult patients, and patient organizations throughout the world, on the RareConnect aHUS webpage - available in multiple languages and sponsored by EURORDIS.

aHUS Awareness Day is marked with an international campaign each September 24th .  Follow updates on Twitter at @aHUSalliance and @aHUS24Sept with advocacy & info updates at @aHUSallianceAct 

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I don't feel I know enough about it yet to be able to say as I am only recently diagnosed.  I do know that I was very lucky to be diagnosed quickly which prevented unrepairable damage to my kidneys - I know all the plasma transfusions I had cost an extortionate amount of money - I was also told that they couldn't to an actual aHUS test - they had to eliminate everything else first?  Not sure if that was just my situation due to a doctor recognising signs or if that is standard - I guess because it is so rare, it is not at the forefront of most doctor's minds.

Thanks that is three good topics for research in a few words: 

Cheaper or more cost effective complement inhibitors 

What is it about some that they go into remission with PEX alone

Blood tests for complement activity

Do you think sometimes that some are just so satisfied that their insurance covered them for treatment  and are not inquisitive beyond that, so are not interested in joining in such a conversation.

There are approaching 500 members of this site , although not members of the Foundation,  and many more view it.

There is so much  information and data in the social media that is wasted and lost but would be so valuable if captured.

 

Also, I wonder if it is how the conversation / topic is brought to their attention - i.e. I receive an e-mail saying there is a reply to the discussion - you then log on to read it but it could be anything.  I don't know enough about websites but if there was a section for new discussions under subject titles and then an e-mail was sent saying something like "new topic" - "what are you research priorities?" more people may go to a specific topic rather than logging to see a general question / enquiry.

On a different but related issue - I have just had my genetic results back which say I have not got it genetically.  However, I have been referred for a heart echo scan and a ct scan as my breathing has not returned to normal (interested to read earlier comments about the asthma link) - anyway, I asked my Consultant the percentage of people that had negative results and then had another episode of aHUS but she was unable to answer that - she also said that the genetic testing was so new, there is no guarantee that the test is 100% accurate.  I will remain under my Consultant and still have regular blood tests but there is always that concern now that it could re-occur - at least I know how important it is to seek urgent medical treatment now - I also have a fast track pass to the QA Specialist Care Unit but I will worry when we go on holiday!  Does anyone know if there is any research into repeat episodes with negative genetic results?

Over 6500 views well worth having this forum.

Just wanted to thank the USA aHUS patients and carers for their response so far to the Global Voice

I do not what you have said but there are plenty of you saying it. With few more joining in there could be over 100 of you speaking for the thousands of aHUS patients in the states.

http://www.ahusallianceaction.org/survey/ Is where you can add a voice.
Global survey due to close at midnight SST on 15 April just in case there are some last minute responses on Midway Island :-) if you have not done so yet please use link above to respond .

Gasser Syndrome is what aHUS could have been known as ,in honour of the Professor who wrote  the term for the first time  on Baby Bodmer's  autopsy report back in 1954.

I wonder what Conrad von Gasser would have thought today in 2016 when a Global Survey about the disease he described comes to a conclusion with hundreds of people affected by aHUS in dozens of countries participating.

This survey by the aHUS alliance was led by Linda Burke of the Foundation and will be the most comprehensive voice for aHUS in 2016.

I wonder too  what the  aHUS folk of 2078 will think about it, and children today now have the hope of doing so because of clinical advances so far and yet to come .

 

100 responses by USA to survey. Wow you did it. Foundation members speak up for aHUS.

Dear Debbie,

I saw you post and I wanted to let you know that a negative genetic panel does not exclude the diagnosis, Approximately 30-50% of patients in the clinical trials with aHUS had negative genetic results.There are multiple potential explanations for this: 1) it is  likely that we are not yet aware of all the involved mutations to be able to test for them 2) not all labs do as comprehensive testing as some of the other labs and 3) other explanations.


Debbie Montagnon said:

Also, I wonder if it is how the conversation / topic is brought to their attention - i.e. I receive an e-mail saying there is a reply to the discussion - you then log on to read it but it could be anything.  I don't know enough about websites but if there was a section for new discussions under subject titles and then an e-mail was sent saying something like "new topic" - "what are you research priorities?" more people may go to a specific topic rather than logging to see a general question / enquiry.

On a different but related issue - I have just had my genetic results back which say I have not got it genetically.  However, I have been referred for a heart echo scan and a ct scan as my breathing has not returned to normal (interested to read earlier comments about the asthma link) - anyway, I asked my Consultant the percentage of people that had negative results and then had another episode of aHUS but she was unable to answer that - she also said that the genetic testing was so new, there is no guarantee that the test is 100% accurate.  I will remain under my Consultant and still have regular blood tests but there is always that concern now that it could re-occur - at least I know how important it is to seek urgent medical treatment now - I also have a fast track pass to the QA Specialist Care Unit but I will worry when we go on holiday!  Does anyone know if there is any research into repeat episodes with negative genetic results?

In nearly four years this forum has attained the most views on this site showing that that there is an adult agenda for knowledge and awareness about this disease.

Whilst countries' advocacy increasingly goes local, resulting in new engagement with people ,there is also an overall maturity developing in the broader aHUS community as the successes of treatment mean that the patient cohort just grows older

So too with online aHUS information as expertise and debate matures too. 

http://www.ahusallianceaction.org/ is an example of the way the agenda is maturing and is becoming  a place for a new generation of aHUS patients/carers to read and think about aHUS  on a different level; based on evidence found, reported and shared  by those affected by aHUS and increasingly respected by the aHUS clinical community for it. Have a look some time if you have not done so  http://www.ahusallianceaction.org/a-rose-by-any-other-name-whats-th...

Hello,

Newer to AHUS for about a year now.  Been on Soliris for about 8months

Looking for people whom are willing to chat occasionally about the side effects and issues I seem to continue ue to have while on the Soliris. I have hit the insurance brick wall and the costs associated with this disease have hit my family hard. 

Thanks

Hello everybody. I am 39 and recently diagnosed after transplant with aHUS. I have two young children and am inquiring to find out the best way to get them tested for the disease.

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