The doctor said: "I've got the good news for you."
The parents were curious. What would that be?!
The doctor: "Finally, a drug discovered for our children. In the USA. An effective drug."
Smiles spread over the wry faces of the parents. The smiles wore the shadows of all the long pent up sorrows. They hugged their babies tightly.
The doctor again said: "But, I've got the bad news too."
They held their breaths. What sadder news could come to them than all that they have heard so far?
The doctor: "The drug is costly."
The parents: "Costly? No problem. We will sell everything. We will borrow."
But, the drug was costlier than all their lives put together. Just for one year, they would have to pay a whopping sum of $7.5 lakh. Or, in Indian Rupee, around 5 crore!
Your response will also be just the same – silence - on hearing that the only hopeful treatment for your baby that sleeps close to your heart will cost Rs 5 crore.
Spinal Muscular Atrophy (SMA)
Spinal Muscular Atrophy is disease that affects the ability of the muscles to make any movement. That which makes human beings into contorted masses of tissues, pushing them backwards and backwards, till death do release them from the sufferings.
Many SMA patients are quite normal at birth. But a single gene that controls the production of a protein required for the motor nerve cells in spinal cord that stimulate the ability to move, would be missing.
Sooner or later, the power of muscular movement will start diminishing. The patient can slowly lose the ability to walk, and become wheel-chair bound. The bones may start bending. The muscles controlling movements of throat and lungs may start weakening, blocking the intake of food and even, breathing. The patient will inch towards the certain death.
However, the disease leaves intact the neurons in the brain. The faculties of sight, hearing, taste and speech will not be affected. And the intelligence may sometimes be a notch higher than others.
And there's something. The light that shines on the faces of these patients and their parents. It's a light that cannot be darkened by any fatal disease. And some people do keep moving on in their wheel chairs, even back to life.
The SMA patients form a minority among the differently abled. The disease is caused by the absence of the gene, SMN1gene. There are many people who lack this gene among us. And not all of them are affected by the SMA. They just lead normal lives.
However, the trouble starts when two people with this genetic disorder get married to each other. One out of four among their progeny have the chances for developing the disease. The symptoms of this disease may not be manifested at the time of birth. Rather, the symptoms might start to show after two or three years of age. There are people whose muscular atrophy started to get manifested after 18 or 20 years.
Here, we are talking about crores. Let's listen to some more numbers.Every 6000– 10000 children born in India are affected by spinal muscular atrophy. One person out of every 40 of us lack the SMA1 gene. So, the chances for both a husband and wife to have the same genetic disorder are not so rare.
Do you know which is the last recorded SMA case in India? She was a Malayali girl child, named Devananda. She was born in Bangalore, on last November 20. She was diagnosed with SMA on the 20th day of her birth, and she left this world on the 26th day.
Collective of affected families
When faced with such sorrows in life, human beings will recognise each other, and join hands to seek out solutions. They will recognise each other as mirror of one's own sorrows. The Cure SMA Foundation was the result of such a joining of hands, by the parents of children affected by SMA. Here, the parents can reach out to each other, supporting and offering solace and practical solutions to each other, helping with drugs and getting trained in physiotherapy.
The Foundation has 178 families as members now, out of which 39 are from Kerala. The number of families from Kerala used to be 44, but five of them have left now as their children have passed away. This Foundation was initiated by Alpana Sarma, a Mumbai-based mother. The South Indian coordinator of the Foundation is Dr. Razeena, a Malayali. Her son, Jewel, is fighting a brave battle with SMA.
The Foundation members have left no doors to be knocked – from Kerala's CM Pinarayi Vijayan to the PM Narendra Modi. The response on hearing the cost of the drug is the same everywhere – Silence.
The cost of the drug
The drug Nusinersen is marketed under the brand name Spinraza by the US-based pharmaceutical firm Biogen which acquired its exclusive license in 2015. The US Food and Drugs Administration gave license to the drug to be used for treatment and it has managed to bring many patients back into life, but, at an expense of approximately Rs 5.50 crore, including the cost of the drug and hospital expenses.
But, in the USA, the treatment expenses for SMA patients are borne by the State. In Australia, the patients have to bear only the equivalent of Rs 3500, the rest being borne by the State. But, in India, there is no such State support available so far.
A case had been filed recently at the Delhi High Court demanding State support for the SMA patients for treatment and the High Court had given a favourable ruling. But to no avail.
Another recently developed treatment for SMA was gene therapy. It is a single-time treatment, but that too has an exorbitant cost – at Rs 37 crore.
Self-help when the government turns a blind eye
India has a policy for supporting patients with rare diseases – The National Policy for Treatment of Rare Diseases. Funds worth crores of rupees used to be earmarked for various projects under this projects which were never utilised on time. Cure SMA Foundation had approached the Ministry of Health and Family Welfare, New Delhi, with the demand to utilise the earmarked funds under this policy.
But, according to the latest information, this policy itself has been scrapped. The current policy recommends providing single-time monitory grand of Rs 1 or 2 lakh to patients suffering from rare diseases. That was all.
The parents who are members of the Foundation can do only one thing now – provide symptomatic relief. Treating not the disease itself, but only the symptoms created by the disease. As the lungs become weak, the SMA patients are under the threat of contracting chest infection any time. The chest congestion caused by phlegm that gets cured in two or three days for normal people can get fatal for SMA patients, often requiring intensive care. So, the parents have to spend wakeful nights fomenting the chest with warm water.
Mothers of SMA patients often turn into physicians by themselves, by combating with the complications that arise each day. They often turn into competent physiotherapists, providing daily doses of various types of physiotherapy to their wards.
They are crying out to our Members of Parliament and Members of Legislative Assemby – to raise their voices. It's high time that the country intervened in this issue. A lot remains to be done. India should give permit for the drug that costs Rs 5 crore. The drug should be made available to patients at reduced cost with the some kind of support like that of the CSR funds of corporate houses. (If the government could recover the funds grabbed by the businessmen who left the country after taking loans, which would be more than enough for the purpose !!).
Another demand by the community is to make the test for SMA carriers mandatory before marriages. Having insurance schemes for the genetic diseases is another long pending demand from them.
The request is from the children, affected by this rare disease, those who are fighting their last-ditch battle to keep themselves alive.
There are many SMA patients who refuse to be defeated by this debilitating disease. Prathyush, 25, who became a Microsoft Certified Developer at the age of nine years, the 20-year-old Muditha who won a national-level first rank in the tenth standard examinations of CBSE, 16-year-old Anushka who was referred by the Prime Minister in Maan ki Bath for reaching the top in the CBSE Tenth standard examination, Karan Shaw, the 20-year-old who is the first Animal Behaviourist who conducts canine training from a wheel chair, the 31-year-old Sharmishta, a columnist who has won many literary prizes…. It's a long list.
Let's take a deep bow before the light spread by each one of these fighting spirits!
The story of their lives
Twelve-year-old Jewel Roshan is a Malayali SMA patient. A brilliant student who has won gold medal at the National-level Mathematics, English and Science Olympiads, Roshan has won accolades in the Spelling Bee contest as well. But it's not an easy life for him. Neither for his mother.
Given below is the time table of Jewel's daily routine (and also of his mother).
5.30 am: Nebulisation
6.00 am: Chest Physiotherapy
7.30 am: Training on 'Stander' machine, for maintaining the standing posture.
8.45 am – 9.15 am: Training using Ankle Foot Orthosis to correct the positioning of ankle joint. Then gait training using parallel bars.
10.00 am – 1.00 pm: Study Time
2.00 pm – 3.00 pm: Gait training and exercise
3.30 pm – 4.30 pm: Training using Stander Machine
4.30 pm – 6.00 pm: Study Time
6.00 pm – 7.00 pm: Upper limb and lower limb exercises
9.15 pm: Nebulisation and Chest Physio Therapy
10.00 pm: Bed Time