The movie ‘Extraordinary Measures’ released last year features a family conjuring all means possible to get treatment for their children who suffer from a hitherto unknown disease and are believed to be dying. The family’s struggle as it approaches politicians and pharma companies to seek help in finding cure for the disease depicts the never-say-die spirit of human beings. The disease they fight in the movie is called Pompe, one of the 8,000 rare diseases which are inflicting several children across the world. Rare diseases are called so because they afflict one in 2,000 persons.
Gaucher’s, Pompe and Progeria (depicted in film Paa) are some of the most common rare diseases but lack of proper diagnostic facilities and treatment options makes it tough for patients and their families to deal with them.
My daughter Nidhi is also living with Pompe, a neuromuscular disorder that causes progressive muscle weakness because of absence of an enzyme. She was born a normal child in 1999, but soon we started noticing delay in reaching development milestones. She used to be frequently down with indigestion and pneumonia. Even at the age of two years she was unable to stand up. Since misinformation is rampant even among doctors, it was only in 2007 when a genetics expert established that Nidhi was living with Pompe,
Gaucher’s, Pompe and Progeria (depicted in film Paa) are some of the most common rare diseases but lack of proper diagnostic facilities and treatment options makes it tough for patients and their families to deal with them.
Who gets a rare disease?
Rare diseases happen as a result of deficiency of particular enzymes which mostly leads to development delays but sometimes can also fasten ageing as in the case of progeria, movement disorders, seizures, deafness, dementia, weak immune system, enlarged liver and spleen. Just like other genetic disorders, rare diseases also occur because of faulty gene carried by parents. Since there are thousands of rare diseases, experts say it’s impossible to do preventive testing done for all of them. Specific testing is done only if there is family history of a rare disease. Also these are progressive diseases affecting the children as they grow. A child born normally can show symptoms of abnormal growth between six months to two years by missing important milestones.
Here lies the self-defeating purpose about these diseases: it’s difficult to diagnose them at earlier stages thus delaying treatment. And once the disease reaches certain stage, it’s difficult to reverse it with medicines.
Since there are thousands of rare diseases, experts say it’s impossible to do preventive testing done for all of them. Specific testing is done only if there is family history of a rare disease
Rare diseases are often mixed up with other genetic disorders and patients are loosely categorised as mentally challenged while there are many rare disease which don’t affect the mind at all. Nidhi is an intelligent child and participates in all her school functions. It’s just that a close watch has to be kept on her.
Where’s the treatment?
Getting proper and affordable treatment is the most difficult part in the struggle against a rare disease. Though 
millions of children across the world are affected by rare diseases, each disease affects only one in 2,000 persons. Such a small population of patients does not represent big profit for pharma companies thus resulting in less research and lesser medicines to deal with rare diseases. These medicines are hence called orphan drugs since nobody wants to take up their cause.
Even the few medicines being produced cost Rs 25 lakh to Rs 1 crore annually turning them out-of-reach for most families. Notably, these medicines can’t treat the disease and are used just to manage them.
In September 2007, pneumonia struck Nidhi and she had to be put on ventilator for six days. Her lung muscles had hardened and were unable to support breathing. After conducting a tracheotomy, doctors discharged Nidhi on 24-hour home-based ventilator. It was horrible to see our daughter confined to bed not even able to breathe at a young age of 8 years.
We had heard about the US-based Genzyme Corporation which provides free drugs through its compassionate access programme to select Pompe patients. After a long struggle, Nidhi was selected for the treatment and the medication has improved her condition to such an extent that she has re-joined school and requires ventilator only while sleeping.
However, the experience of last 10 years - countless trips to hospitals, constantly keeping a vigil on the child and looking for the best treatment possible – has connected us to thousands of other parents who are facing same issues.
The questions all of us face are: If the treatment is costly, should we let our children suffer? How long will Genzyme give free drug and what about patients who don’t get the drug for free? What about other rare diseases for which no company provides free medication?
We need Indian companies who can research and produce medicines for rare diseases. In all developed countries, tax relief, regulatory concessions and even financial assistance are given to companies manufacturing drugs for rare diseases under the Orphan Drugs Act. Though Indian Drug Manufacturers’ Association has time and again requested the Indian government to provide similar support to firms willing to manufacture these drugs here, there has been no progress in this case.
If the treatment is costly, should we let our children suffer? How long will Genzyme give free drug and what about patients who don’t get the drug for free?
In the absence of such a policy, millions of families continue to suffer under the burden of unknown and untreatable diseases every day. But we, the parents of kids with rare diseases, are not going to give up. The Lysosomal Storage Disorders Support Society (LSDSS) came into existence in September 2009 and we have been trying to create awareness not only among general public, but also doctors who need to diagnose the disease faster for better results of treatment.
We are also engaging with policy makers who need to realise that patients of rare diseases may be comparatively less in number but by denying them the treatment we are denying them the right to life.
Prasanna Kumar Shirol is the president of Lysosomal Storage Disorder Support Society, the first national-level parents support group with children suffering from rare diseases in India.