As guests of the Foundation for children with aTYPICAL HUS ,aHUSUK is attending the aHUS Patients Conference at the University in Iowa City.
As wi fi access permits, this post will attempt a real time account of the events in Iowa.
25/10/14 4pm A reception is held in the Sheraton Hotel, Iowa City, for those attending the conference tomorrow. Several people are late arriving because heavy fog has distrupted air travel into and out of Chicago. As each turns up, their tales of how they got here sound like that Steve Martin film ,”Planes Trains and Automobiles”!! Even a tractor is mentioned!
Phyllis Talbot Director of the Foundation ( who aHUSUK members may remember spoke by SKYPE on an interstate somewhere between Atlanta and Baltimore at our AGM) hosts the reception and is joined by Foundation founders Bill and Cheryl Beirmann. The early arrivals include grandparents of a young boy who became ill with aHUS in India just a few weeks ago and is recovering well having received eculizumab. The conversations around the room are typical of what happens when those who have encountered aHUS, whether early or later in life, meet up wherever they are in the world.
Phyllis mentions that aHUSUK patients’ families are going to Legoland tomorrow which shows just how word gets round quickly in the aHUS social media.
Dr Smith of the University of Iowa, an eminent aHUS researcher and key speaker at the conference joins the reception before dinner and, in discussion, reveals that his family come from Wigan and Bolton!!! Uncle Joe’s mint balls get a mention…
At the end of the dinner Phyllis gave a short speech and set out the arrangements for getting to the conference venue for an early 8am start.
The Conference is held held in the Carver Building which houses the College of Medicine at the University of Iowa.(The conference is to be filmed, so everyone has to sign a consent form) . Over 100 delegates and children have arrived, aHUSUK gets a mention in the introduction! Bill Biermann opens the conference with a brief scene setting and a history of the relationship between the Foundation and the Iowa University.
The first session is about Complement and presented by Dr Richard Smith. A very clear explanation is given about the parts of the complement system and the way they interact ( by cutting ,sticking together)to create the immune response that they are designed by evolution to do, as well as how the control parts of the system (complement factors) are intended to work ,or not as in the case of those with aHUS. Dr Smith also explained the way in which the recently discovered DGKE genetic mutation activates the coagulation system (clotting) and in turn the complement system. Dr Smith’s lab is currently examining the relationship between the two systems to gain a better understanding of the complement and coagulation “cross talk, which may lead to alternative therapies.
Dr Carla Nester of the University of Iowa’s Children’s Hospital gave the second presentation, starting with the difficulties of a diagnosis and the process of elimination needed to arrive at aHUS. A “you be the clinician” challenge in which Dr Nesters produced a list of patient case studies all with common TMA symptoms illustrated the difficulties facing clinicians in making a correct diagnosis and deciding on an appropriate treatment. Dr Nesters then answered a number of questions about remission, dosage levels and frequency, and exit from eculizumab, giving a detailed analysis of the risks and thoughts on the likely outcomes based on very little existing data.
The third presentation was about genetic testing by Nicolo Borso who has moved from Italy to work at the University of Iowa. With an underlining theme that it is not so important how quickly tests are done but how the results of the tests are interpreted Nicolo explained the testing process. In the Sanger process 119 screening tests have to be done on the seven complement components. “Tons of work !!” . Next generation sequencing equipment provides a diagnostic report on the variants found. A further method screens specific CFH variants. Better screening provides information not only for prognosis and but also information for counselling patients.
After a break , during which delegates had the opportunity to talk to the presenters and visit the genetic testing lab at the University, the next talk by Professor Christie Thomas was about kidney transplantation and treatment options available including standard transplant for those with MCP/CD46 ,combined liver / kidney transplants, transplants supported by eculizumab. Prof Thomas explained the pros and cons of each. He also talked about “de novo” aHUS in donors and how there is a need to be sure about living donors mutation status before considering that option. Prof Thomas also gave some statistics about the USA kidney transplant list on which there are over 400, 000 people (there are over 500,000 on dialysis!); and the low chance of receiving a donor kidney within 5 years in parts of the USA.
Following an interval for lunch the next presentation was given by an Alexion Pharma representative and concerned Alexion’s biomarker programme. Biomarkers are blood tests which help identify aHUS in patients first presenting given the multiplicity of activity going on in the blood including complement, platelet and coagulation activity. A range of Biomarkers was found where activity in aHUS patient were considerably elevated in them compared to the general population but with eculizumab treatment , aHUS patients’ Biomarkers returned to normal levels in time.
A filmed presentation by Clinical Psychologist Jody L Jones about the impact of aHUS on people whether patients or family members from the immediate “grieving like” reaction, the effect on family dynamics and relationships, the stress of dealing with financial pressures caused by the illness, dealing with understanding the illness, depending on social support from family and friends provided ideas of how to cope, emphasising that people are not, and should not feel, alone. Something that meet ups like this and the concurrent aHUSUK Family Day in Legoland ,Windsor,UK help to show.
A panel discussion took place with questions and answers from the delegates about living with a chronic illness.
This was followed by an update by Dr Fengxiao Bu, a research fellow at Iowa University on current aHUS research. Some insights have been found in variants in complement proteins including those like F10 may have a protective effect for those predisposed to aHUS. Further research shows that genes aggregate in different pathways which are more related than previous thought. The presentation showed that there is a real and global sea change taking place right now in research and understanding of aHUS as it affects individuals and why sometimes it does not!
The Foundation’s Directors then led a discussion about the work of the Foundation and its outreach activities. Linda Burke who aHUSUK members may know from the Foundation’s website talked about the way patient organisations can make a difference and how they can help, not only provide information, but also provide a connectivity hub. She demonstrated the resources available for those, not only people with aHUS, but also those with rare diseases. Linda talked about the Foundation’s involvement in the Global aHUS Alliance and mentioned the 2014 Global aHUS Poll and also announced a change to the Foundation for children with atypical HUS’s name to the “atypical HUS Foundation” to reflect that it is there for all ages of people affected by the illness. Concluding with an update on the progress of clinical trials of Omeros.
The conference was closed by Phyllis at 4pm to loud applause. An excellent day of informative, educational ,current and forward looking presentations. Cannot wait for the video!
But the conference weekend continues with an informal post conference dinner hosted by the Foundation in the Sheraton Hotel. The Foundation have set the bar high for putting on an educational event for the aHUS community.