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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Great idea!  

This is a great idea! I am a 37 year old guy from India diagnosed with aHUS at the age of 22 about 15 years back. This site has been a phenomenal resource of information and support. But yes, I sometimes find that the issues are a little different when you are an adult! You don't have a parent doing most of the worrying - you are the one doing that!

Of course, my parents worry a lot too but the primary responsibility for finding out stuff and doing things rests with me! This is a little more daunting. 

Thanks Linda for this amazing forum and here's hoping I can share my problems with other adults with aHUS.

This is a great thing to have I think :) Life as an adult aHUS patient, especially one who has been living with aHUS their entire life, can be challenging. I myself face the many rigors of workplace challenges due to not just my size, but my condition tends to be looked upon. However, since I have been living on dialysis since the age of 1 I can pretty much help guide the adults who with this condition. I haven't had very severe effects, but I know what the disease does.  C'MON adults let's take a stand!

Hooray for a growing adult aHUS community and a forum! I was diagnosed at 19, twelve years ago (today!), and have spent many of those years on dialysis, mostly PD, with a lovely two-year interlude on a transplant, lost to aHUS recurrence.

I'm still single, so I haven't dealt with some of the family issues, but I have dealt with insurance issues (US), disability, working on dialysis, FMLA, etc. I haven't been active here is a while, (hopefully that'll change), but send me a message if you want to reach me.

I'm really excited to see what a game-changer Soliris is! So fortunately some of my experiences (and those of Jessica and Kamal) may not be relevant to (relatively) newly diagnosed adult patients. In turn, those patients already on Soliris may guide we who are still hoping for a transplant. We do all face certain issues as "responsible" adults with both acute and chronic health problems, so let's support each other!


  I think of our adults constantly because as a parent, in some ways, we are helpless, helpless about what the disease is doing.  I am so frustrated with the

whole process needing to take so long, even here in the states with a live donor, it took a little over a year to get approved and then longer for the necessary tests and workups.  Just so you know, we pray for you long-term patients all the time. Reposting the stats on lack of  kidneys and the fact that we all have one to share just doesn't seem enough.  Then so many who would be willing havehad medical issues that prevent them too, I know that is what some families face.
Kamal D Shah said:

This is a great idea! I am a 37 year old guy from India diagnosed with aHUS at the age of 22 about 15 years back. This site has been a phenomenal resource of information and support. But yes, I sometimes find that the issues are a little different when you are an adult! You don't have a parent doing most of the worrying - you are the one doing that!

Of course, my parents worry a lot too but the primary responsibility for finding out stuff and doing things rests with me! This is a little more daunting. 

Thanks Linda for this amazing forum and here's hoping I can share my problems with other adults with aHUS.

Great to see a spot for adults to chat with each other. I have been on my aHUS journey going on 4 years now. And I know thats not long compared to many of my fellow aHUS friends. I am on Soliris and have had a successful transplant so feel free to contact me on here or my email jillnziegler@yahoo.com

Just make sure you put aHUS in the subject. Praying for everyone affected by this disease and their families!
God Bless

Jill

My first conscious encounter with aHUS began 16 years this week when my daughter, who was a university student, became ill in Glasgow coincidental, perhaps, with the largest e coli 0157 outbreak in the UK. From what I have found out since; in our family aHUS primarily reveals itself in young adults, and had we been motivated to create such a foundation, it probably could have been called “The Foundation for young adults with aHUS”!   Although if I added another degree of family separation, where young children are mainly affected, it would have been possibly “The Foundation for families with aHUS”. However, the founders of TFFCWA came to it as a result of an illness to their young child and it was the way in which they outreached. They have learned about the adult prevalence and those adults have learned about the children,

In the 1990s, there was little information about HUS, except that by then it was evident that there was a familial version which needed greater understanding. Prof. Goodship was looking at this at the time and identified a CFH mutation that was implicated in the onset of the disease. My family was tested prior to his research publication, so for 15 years we have been aware of this genetic predisposition. Even the advent of a complement inhibitor was talked about in 2004 and the years pass by.

Prior to becoming a member of this site personally, I discounted the “children” focus of the website because it was clear the medical content of the site was relevant to anyone with an interest in aHUS. Indeed when you think about it, the site is really not used by children, it is more for adults , just their role changes be it as carers, carriers or casualties. As Kamal points out his parents have just as much interest in him as their child, despite his age (by the way Kamal did you leave a comment on the aHUSUK website earlier this year?).  And the children who are featured by their parents on the site today will become adults, and their parents will then understand that there is little difference in having an adult child with aHUS!  

Equally, the current “eculizumab generation” of children will face their own challenges as adults with aHUS, that their own parents are unlikely to have experienced. It is natural to think about the one in whom the “disease” has manifested itself, and also, to suppress the other realisation that one of the parents passed on the predisposition and the other parent may have had another contributing mutation /polymorphism that lit the fuse. Our generation of parents did not know that, the next generation will.

Hopefully, however, the severe prognosis for aHUS, which, when I read the only book in Manchester Central Library with a reference to familial HUS, was on reflection quite depressing when my daughter was in intensive care, will no longer be the norm in the future. But aHUS will still happen. The incidence however might be influenced by identifying and managing the “triggering” events , which will be a focus for the ongoing research. Adults can do a lot to supply information to help with that.

 Hopefully the numbers who need to dialyse will diminish as preventive therapies such as eculizumab are used on those presenting for the first time, and on those, who have endured dialysis for decades, including Kamal, are successfully transplanted. I feel often that healthcare providers in their “allocation decisions” about the expensive eculizumab “tend” to favour using it on those who can be saved from kidney failure, over those who have failed kidneys and need a transplant. I also sometimes think that it would be easier to live a life on dialysis, without the knowledge that there is a therapy that can be of help to you, but you cannot have it! Something for those who have benefitted from eculizumab to ponder.

AHUS affects all ages and genders and increasingly with an ageing population, this will also affect older adults, who are an often forgotten minority now. After all, the vulnerable period of immune system and hormone changes of childhood, occurs when they reverse themselves in old age.

AHUSUK did not mark out a specific patient cohort for use in the name they chose, although of the founding trustees, four families had children with who had encountered aHUS (all of whom are now in remission) and three families had an adult encounter, two of which were older adults. aHUSUK does have the strap line of a Patients and Families Support Group. The Foundation for children with atypical HUS is an established “brand”, which has become a beacon for those in the aHUS word.

Their site can be used by people in different ways. Parents, of whatever age, need to do “something” that is natural when a severe life threatening chronic illness happens to their children. It may have been noticeable that this parent’s use of the site has been to raise awareness and support for an application for our NHS to provide eculizumab free of charge to all those in England who need it, including for his own daughter. That will extend to Wales shortly where my family represent a significant number of the small aHUS patient population in that country. We all need to do something; if we all do a little together we achieve a lot.

But there is plenty of other subject matter for adults to join in on, talk about and act on.  

So adults with aHUS, what are you going to do in 2013?

All good points, Len.  In the early years of beginning the foundation, we were told that adults do get the disease but it is infrequent and that the prognosis is so poor that few who have the disease progress to adulthood.  Only with the recent, intense scrutiny of aHUS and cooperative efforts of the web sites with the drug companies has it come to show a much larger adult population than formerly thought.  However, to change the name now may confuse people, so we just state as clearly as possible, all are welcome!  

As a parent, it is sooo, very enlightning to ask questions of and hear the stories of adults, because my son's coping skills caused him to block out a lot and he has trouble articulating what it's like.  Only now, are we beginning to hear a few clues into what it must have been for him.  So I agree with Len, adults with aHUS what does 2013 hold for you?

Well, to be honest, for me personally, 2013 does not hold anything very different from what 2012 held or even 2011! For starters, it would be very difficult to imagine the miracle drug eculizumab (without which I cannot even attempt a kidney transplant) would be accessible to me. I live in India where I pay all my medical expenses out of pocket! That might come a huge surprise to many of you but it is true.

In India, most people pay for their medical expenses out of pocket. We all know that eculizumab is one of the most expensive drugs in the world today and unfortunately way out of reach for me. My only hope is some kind of subsidy or some kind of trial which will enable me to have access to the drug.

I often feel that it would have been easier dealing with the disease had I been a kid! As a kid I probably wouldn't understand the gravity of having aHUS. As an adult, I am living the disease every moment. It is really hard to come to terms with the fact that there is something out there that can give my life back to me but I cannot get access to it!

Well, I am not depressed, neither do I have a fatalistic attitude to life. I live life every moment. I co-founded a company that provides dialysis to patients. I have found my 'calling' so to speak. I spend time with patients and with doctors trying every day to improve the quality of care offered in my country.

Dealing with dialysis is difficult in itself. Having a disease like this due to which your 'light at the end of the tunnel' is denied to you, even more so.

Len, I might have left a comment. I really do not remember!

Len Woodward said:

My first conscious encounter with aHUS began 16 years this week when my daughter, who was a university student, became ill in Glasgow coincidental, perhaps, with the largest e coli 0157 outbreak in the UK. From what I have found out since; in our family aHUS primarily reveals itself in young adults, and had we been motivated to create such a foundation, it probably could have been called “The Foundation for young adults with aHUS”!   Although if I added another degree of family separation, where young children are mainly affected, it would have been possibly “The Foundation for families with aHUS”. However, the founders of TFFCWA came to it as a result of an illness to their young child and it was the way in which they outreached. They have learned about the adult prevalence and those adults have learned about the children,

In the 1990s, there was little information about HUS, except that by then it was evident that there was a familial version which needed greater understanding. Prof. Goodship was looking at this at the time and identified a CFH mutation that was implicated in the onset of the disease. My family was tested prior to his research publication, so for 15 years we have been aware of this genetic predisposition. Even the advent of a complement inhibitor was talked about in 2004 and the years pass by.

Prior to becoming a member of this site personally, I discounted the “children” focus of the website because it was clear the medical content of the site was relevant to anyone with an interest in aHUS. Indeed when you think about it, the site is really not used by children, it is more for adults , just their role changes be it as carers, carriers or casualties. As Kamal points out his parents have just as much interest in him as their child, despite his age (by the way Kamal did you leave a comment on the aHUSUK website earlier this year?).  And the children who are featured by their parents on the site today will become adults, and their parents will then understand that there is little difference in having an adult child with aHUS!  

Equally, the current “eculizumab generation” of children will face their own challenges as adults with aHUS, that their own parents are unlikely to have experienced. It is natural to think about the one in whom the “disease” has manifested itself, and also, to suppress the other realisation that one of the parents passed on the predisposition and the other parent may have had another contributing mutation /polymorphism that lit the fuse. Our generation of parents did not know that, the next generation will.

Hopefully, however, the severe prognosis for aHUS, which, when I read the only book in Manchester Central Library with a reference to familial HUS, was on reflection quite depressing when my daughter was in intensive care, will no longer be the norm in the future. But aHUS will still happen. The incidence however might be influenced by identifying and managing the “triggering” events , which will be a focus for the ongoing research. Adults can do a lot to supply information to help with that.

 Hopefully the numbers who need to dialyse will diminish as preventive therapies such as eculizumab are used on those presenting for the first time, and on those, who have endured dialysis for decades, including Kamal, are successfully transplanted. I feel often that healthcare providers in their “allocation decisions” about the expensive eculizumab “tend” to favour using it on those who can be saved from kidney failure, over those who have failed kidneys and need a transplant. I also sometimes think that it would be easier to live a life on dialysis, without the knowledge that there is a therapy that can be of help to you, but you cannot have it! Something for those who have benefitted from eculizumab to ponder.

AHUS affects all ages and genders and increasingly with an ageing population, this will also affect older adults, who are an often forgotten minority now. After all, the vulnerable period of immune system and hormone changes of childhood, occurs when they reverse themselves in old age.

AHUSUK did not mark out a specific patient cohort for use in the name they chose, although of the founding trustees, four families had children with who had encountered aHUS (all of whom are now in remission) and three families had an adult encounter, two of which were older adults. aHUSUK does have the strap line of a Patients and Families Support Group. The Foundation for children with atypical HUS is an established “brand”, which has become a beacon for those in the aHUS word.

Their site can be used by people in different ways. Parents, of whatever age, need to do “something” that is natural when a severe life threatening chronic illness happens to their children. It may have been noticeable that this parent’s use of the site has been to raise awareness and support for an application for our NHS to provide eculizumab free of charge to all those in England who need it, including for his own daughter. That will extend to Wales shortly where my family represent a significant number of the small aHUS patient population in that country. We all need to do something; if we all do a little together we achieve a lot.

But there is plenty of other subject matter for adults to join in on, talk about and act on.  

So adults with aHUS, what are you going to do in 2013?

Hi Kamal

Who ever it was said that they had attended the aHUS  Parliamentry Seminar that was held earlier this year.

But as anyone who looks after a website knows there is much "spam" mail to deal with!!!.

Anyway your situation does not look promising  for having an eculizumab supported transplant, have the Indian Government Health Dept ruled that out completely and told you so  or is the health service application too complex there. I would be interested to know more.

Have other members of the family had genetic tests, and have you any thoughts about how aHUS may have penetrated into India. Do you know of others or is it just you?

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The Atypical HUS Foundation encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder. By increasing contact opportunities with researchers and medical personnel interested in helping the aHUS community, our stories foster a better understanding of atypical hemolytic uremic syndrome.

Sharing information, inspiration and support for one another, we seek to gather together people and knowledge as we strive to improve the lives of patients and families dealing with a diagnosis of aHUS.


NEW DIAGNOSIS OF aHUS?
Be proactive! Get the medical basics of aHUS, what lab values to monitor, and areas of concern...check out the "aHUS Bootcamp" and "About aHUS" tabs at the top of this page!
If your doctor has never treated a case of aHUS, please print out our 'Doc to Doc Registry' and ask him/her to contact a physician versed in the complexities of aHUS and new options for 2011 genetic testing and treatment.

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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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Your donation of $295.for an aHUS pearl bracelet will directly fund research to help aHUSpatient and their families. Each bracelet has an appraised value of $925, and is offered with your gift of $295. Note:  For shipping outside the USA, please add $25. to cover international shipping costs.

(Note: Bracelets do not qualify as tax deductible donations under IRS regulations.)

Normally, aHUS pearl bracelets to be made-to-order and as such expect a 4 to 6 week window before your custom bracelet is shipped.  In a rush?  Contact info@atypicalhus.org with your request and details.

 

 Donations of a specific dollar amount are welcome-every dollar will help aHUS research efforts supported by The Atypical HUS Foundation at www.atypicalhus.org.


Donations may be made via credit card or Paypal. If you prefer, checks made payable to The Atypical HUS Foundation may be mailed to:

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