The patient is the most important stakeholder in healthcare. Every day patients are questioning their treatment options and making product choices through their own research. With orphan diseases, experience, information and treatment can often be hard for the patient and their caregivers to come by. In this article Pharma IQ highlights the patient's perspective of dealing with a rare disease.
Spinocerebellar ataxia (SCA) is a form of genetically inherited disorder characterized by variable degrees of degeneration in the cerebellum, spinocerebellar tracts, and brain stem neurons. Shared clinical features are ataxia, dysarthria (speech disorder characterized by poor articulation) and ultimately bulbar dysfunction (defective muscle control of throat, tongue, jaw, and face).
Friedreich’s Ataxia (FA) is the most common of the hereditary ataxias (50%). The prevalence of the disease in Europe and US is between 1 and 2 per 100 000.Onset age is usually in childhood/teenage years.
FA is one of the current selected orphan diseases under research with about 17 experimental (FA) drugs, including six in clinical Trials.
Patient advocacy groups and organizations are one of the primary backers of research into rare diseases. EURORDIS (Europe) hasmember national alliances in 25 countries. In US, there are several patient advocacy groups, like the Barteks.
When their son, Keith Andrus, was diagnosed with Friedreich's Ataxia (FA) in 1998, they moved mountains to put a rare disease on the map and founded FARA (Friedreich's Ataxia Research Alliance) 12 years ago.
India, one of the West’s major pharmaceutical partners, with resources and scientific knowledge, actively working in R&D, has thousands of rare diseases’ patients but no legislation for orphan diseases. Medical assistance is minimal, diagnosing may take a long time, and treatments are hugely expensive.
Cristina Falcão interviewed Z. an Indian parent of a child with SCA disease.
C Falcão: When was your son diagnosed with spinocerebellar ataxia?
Z.:According to my son, he must have been 13, 14
when he realized that there was a problem with the coordination of his hands and legs. He hid the fact, and he was 16
when we went to the first Neuron doctor that confirmed my son had a major problem, without any tests; a few days later the MRI validated his opinion.
The day I was informed about SCA ataxia’s probability, I did not even know how to spell that word! I only realized what we were facing after searching Google and asking some doctor friends. However, no one told me how serious it was nor what kind of tests were yet to be done or the running around which would follow. I started with some of the top doctors in neuron science here, but no advice was given regarding the course of action to be taken. Later, I started to grasp that a rare disease was diagnosed, but I only encountered total indifference from all doctors. There are no proper testing facilities; labs had never done a Phytanic test here. Finally, one lab sent the blood samples to France - and we got the results one month after. There are no labs for DNA tests. Again, one lab helped me out by sending the courier sample of blood to hospital XX, that we later started visiting. My son needs more tests and re – testing. There is no National Registry or Policy to handle this or similar problems. Hospitals are hard to endure; Ataxic patients, and their caretakers, need to 'stand' in long queues just to reach the main entrance. I had a tough time convincing my son to go here. I thought we would at least get a medical certificate to grant an extra hour for my son to write his exams. I was wrong. Here you can get a Medical Degree more easily than a medical certificate from a public Hospital. The school board listed my son’s condition as dyslexia!
C Falcão: Were you informed about further tests, therapies, disease progression, and treatments?
Z.: I now understand that SCA is a rare disease and what it means. I was not aware of it. Private Doctors did not bother to guide me, their attitude was “you cannot do anything about it, accept it.” We had to move around, no help no guidance. Decide by ourselves which doctor or hospital to visit. Go there, and be told that nothing can be done about it.
Doctors prescribe “neuron vitamins” but say they are not the treatment. You have just told someone that they have a degenerative problem and there is no cure, no treatment for it. You lost your freedom! On the first contact itself, it would be very helpful if the doctors gave a list of contacts, centers, or groups to the patient.
C Falcão: How is life with SCA and no information, support or resources?
Z.:It is degenerative, no cure, no treatment to stop or reduce the degeneration. The psychological blow speeds up the degeneration. My son was 16-17 years old. He was an active boy, very good in his studies, full of humor, fun, and laughter. It is not easy for someone at this age to understand or accept this. His school was supportive. My business and my work went for a toss. The medical rounds never ended. He cannot walk without support now, has difficulty in climbing stairs, and cannot write freely and most of the time I am his guide. He is now in College but has to climb 2 floors to go to his classroom- I talked to the board but they did nothing to help. Nowadays, my son and I think beyond ourselves. How many are going down, have been side tracked, or discarded?
When we go for a medical checkup, our minds are blank for a few days before and after the check up.
C Falcão: Did you know about ataxia support groups and organizations, like FARA (Friedreich's Ataxia Research Alliance)? Do you think they can help you?
Z.: I am not sure on how the system works there. I did contact a couple of groups in the EU, but soon realized that this must be only for their citizens. It would be a major relief if we knew we were guided or helped by the right people. I wish major groups took in patients from other countries. At least start forcing the Governments in other countries to take this up as priority. We have been going around close to 2 years now, and I only see my son's health deteriorating. Here I interact with one group. It is still in the teething stage, and is run by a couple of youngsters who have Ataxia.
C Falcão: Did you register your son as a SCA patient?
Z.: The patients should be registered and informed about the developments taking place. I am sure there is sharing of knowledge across the borders; there should be a way for a patient from one country to be able to seek help in groups from other countries. At least the Government should acknowledge the fact that they do not have the necessary route established here and guide their citizens to reach out to people in other countries. There is no National Registry. How can we be informed about research? We went to dozens of doctors and hospitals here. But nothing was recorded and they don’t remember the patients! I wrote to a couple of groups in the EU/US, but did not register there. The boundaries stop us from moving ahead. Will those groups accept us? Will they take in patients from other countries? How do I reach out there?
C Falcão: Do you think your son could have a better diagnosis if he had the chance of doing the tests in another country?
Z.: I believe that with the speed of current development and research, there will be a cure soon, for some types of Ataxia. I understand that there are testing facilities for a few SCA types, and soon there will be for the other types too. However, the delays, lack of recognition, and indifferent attitude contribute to my son’s psychological problems – he needs to socialize, be accepted, and look forward to a bright career.
Given the right support, he will gain his confidence. But the clouds of helplessness, which have gathered around us, make things difficult for us.
Interview conducted by Cristina Falcão.
There are a few pharma companies making the difference in the lives of hundreds of rare genetic disorders’ patients all over the world, through donation of free drugs and having free medicine programs and partnerships with humanitarian organizations. One of them selected Nidhi (an Indian child living with Pompe) for treatment and is doing well.
