We’ve just finished our fourth international conference on AKU (Alkaptonuria), here in Cambridge. It was a huge success, although it raised, once again, the questions we face as we work to find treatments for rare diseases.
Sixty scientists, industry representatives, patients and relatives attended, including from the US, Slovakia, Jordan, France, Italy, the UK, the Netherlands, Sweden and Germany. We had 100% turn-out, which showed just how committed everyone is to finding a cure to AKU.
The quality of presentations from world leaders on AKU was outstanding. Discussions ranged from the latest advances in our basic science research that are increasingly showing the links between AKU and osteoarthritis, to a debate over how to design a new clinical trial of Nitisinone, the drug we all believe can treat AKU.
It raised issues that I’m sure are common to a number of rare diseases. Our challenge is that AKU takes years to become symptomatic and that it affects each patient differently. Hence it’s hard to find the right age at which to start a trial, for how long, and to measure it. Our Medical Director, Dr L Ranganath, has developed a disease severity score index that we believe will significantly help resolve some of these issues.
On the timeframe, it looks like we may be needing a longer term study of Nitisinone in order to detect benefit on patients. We will work across centres in order to reach enough patients, which is why the involvement of Slovakia and Jordan, where patient numbers are high, is important. A key challenge will be raising funds for such a study as few funders think beyond three to four years.
Nevertheless, I’m convinced it is possible, and we’re already making promising progress in the right direction. Where there’s a will, there’s always a way, as the rare disease community shows time and again.
I’d be very interested in any advice from other rare disease groups or experts out there on how they have tackled similar issues. As the rare disease community continues to grow and break new ground, it’s crucial that we share our experiences in order to help each other to make solid progress.
I have been energized with the tremendous courage and excitement the Egyptian people have shown in their rebellion against the current oppressive status quo and wonder what I am doing about our current classification as those with rare diseases. We all push for care and thank those who are willing to help. What is wrong with this picture? We are thanking those for a service that if we did not demand and challenge would not even be offered.
I have wanted to state this many times but did not possess the courage. With this stated here we go with a very short version starting today and working back 57 years. In my life the closest I have come to a diagnose is with the NIH. They believe I have an inborn error of metabolism NIH identified 2005 in me as Combined Malonic Aciduria Methlymalonic Acidemia, CMAMMA for short. In addition to the high levels of Malonic & Methlymalonic acids in my plasma, urine and CSF symptoms include epilepsy (2 to 3 week seizure cycle with a breakthrough seizure followed by 10-20 right and left complex temporal lobe seizures over 2-3 days), hypertrophic cardiomyopathy, bicuspid aortic valve (replaced with an artificial valve along with a 4 inch section of my ascending aorta), PFO requiring closure, weakening blood vessels which lead to a subdural hematoma requiring an emergency craniotomy to repair, congestive heart failure, and other life long nuances which just became “normal”. On top of this add a biopsy and radiation therapy for Prostate Cancer which runs in the family. Other than the NIH where my situation is “of interest”, no one is interested unless I am on a gurney in the ER. As my epitologist told me, “Craig, no interest no money”.
I will not die because of someones lack of interest!
Why must I stay positive and pretend at times everything is OK when it is so not? What am I waiting for? It is because I believe the answers for us are out there and will be discovered! We must keep challenging our medical system of rare disease care with our human faces and very high expectations. Do not settle for anything less……
Respectfully,
Craig Valenty