It's nothing but the triumph of the will to live in the face of a
debilitating morbidity. Fourteen-year-old Nidhi goes to school not just
with her schoolbag. She carries along a portable ventilator and a
suction machine by her wheelchair. It's after a long struggle that she
has managed to get into a regular school and then get them to install a
lift there for her.
Nidhi has one of the rarest genetic
disorders which also happens to be one of the costliest. She has been
diagnosed with Pompe disease that results in debilitating and
progressive muscle weakness because of a defective gene she has received
from one of the parents. The disease is life threatening and the
treatment is ERT (enzyme replacement therapy), an expensive procedure.
Nidhi is not alone in her struggle. Her mother, Sharada Shirol, sits
beside her in the classroom through the day as her daughter listens to
the teacher intently. Her father, Prasanna Kumar Shirol, has quit his
job at Reliance to attend to his daughter's needs.
The girl was
normal when she was born. The first symptoms started when her parents
realized that she could not crawl or stand up on her own. The initial
diagnosis was myopathy, a muscular disease. Her parents took her to
almost 45 hospitals in India before she was diagnosed with Pompe was in
Davanagere in 2007.
It has been a struggle since then. She is
wheelchair bound, has to be on a ventilator at night and has
tracheostomy where an artificial airway has been done to help her
breathe. She developed resistance to enzyme therapy and had to go
through an immuno-suppression costing Rs 12 lakh.
For Prasanna
and Sharada it has been a relentless fight to keep their precious one
alive. "Why should we give up when she's fighting? Every time she goes
to hospital, she exercises and finds a nerve for the injection. She has
never cribbed. Many people have told me that I am fighting nature. But
when she wants to live, how can we sit back?" asks Prasanna.
The
couple's social life is nil. They have limited visitors at home, as
Nidhi's immunity levels are low. Hangouts are restricted to malls, that
too on rare occasions. "She has heard so much about Wonderla that she
wants to visit it. We have promised her a visit this vacation," he said.
Nidhi's only pastime is painting and she can do it endlessly.
It
has been one disaster after another that the Shirols are handling.
Nidhi has now developed Scoliosis because of being continuously confined
to the wheelchair. Her spine is S shaped, and requires 35 screws to be
re-aligned - that too at the risk of losing her post this procedure.
OUT OF RESOURCES
And the parents have run out of resources. "The medicines cost Rs 85
lakh per annum for her body weight of 25 kg. Thankfully it is being
sponsored by a pharmaceutical company under their Charity Access
Programme. But that is not all. We spend around Rs 30,000 to Rs 40,000
per month for her supportive care. The Sciolosis surgery will cost a
minimum of Rs 10 lakh and we are running short of funds," he said.
Nidhi is the couple's only child. Sharada had conceived again but the
pregnancy was terminated after pre-natal tests showed that the second
baby too was affected by the disorder.
Source : Times Of India , 3rd April 2013
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BRAVE ART ( THE WEEK )
The letters in her English
notebook look like children standing in a row in a school assembly. Her
paintings of kids having fun in parks and swimming pools bring in a
rainbow on her bedroom wall. Except for the tablet wrappers which dot
her glass paintings, there is no trace of what she is going through in
her bright and cheerful artworks that have won her many awards.
Being immobile hasn't stopped Nidhi Shirol. Despite being wheelchair-bound, the 12-year-old is the busiest person in her house. She enjoys painting and one of her works recently appeared in Expression of Hope, a book published by GENZYME, a global programme for awareness and inspiration, featuring artworks by the Lysosomal Storage Disorders Community.
Nidhi was 7 years old when she was diagnosed with Pompe, a rare genetic disorder caused by a deficiency of the enzyme called acid alpha glucosidase. “When she was born, she was a normal child,” recalls Prasanna Kumar B. Shirol, Nidhi's father, showing her lovely childhood pictures on his laptop. But a few signs of development delays were seen as she grew up. She had difficulty crawling and even at 18 months, she was not able to get up on her own.
Shirol and his wife, Sharada, took
Nidhi to the National Institute of Mental Health and Neuro Sciences in
Bangalore, where the child was diagnosed with myopathy, a disease of
muscle tissue for which there was no cure.
The symptoms of Pompe
appeared after five years. The disease crippled her muscles and she had
difficulty standing and sitting. Being an outdoors person, that was more
than what she could bear.
Life became tougher for her as days passed
by. She developed severe breathing problems and had an incision made in
her windpipe to get a tube inserted to assist breathing (tracheotomy).
At night, she needs ventilator assistance.
As Nidhi couldn't walk, the family moved from Hubli to Bangalore and put her in Gopalan International School.
With
medication, Nidhi's condition has improved a lot. But whatever damage
the body has had is irreparable. Treatment only stops further
deterioration.
Despite all the difficulties, Nidhi never complains.
She never loses her patience over the numerous dos and don'ts. She knows
that she cannot go out in the rain as it can lead to respiratory
problems. The quiet fortitude with which she fights the disease amazes
even her doctors. Some of the procedures in her treatment are a bit
painful but she takes it all without a word of complaint. Nidhi never
gives any trouble to her parents, too. “In spite of her ailments, she
does everything on her own. I don't have to be after her to make her do
her homework,” says Sharada, who involves Nidhi in all activities,
family functions and holidays.
Nidhi misses three or four classes a month for her treatment, which includes enzyme replacement therapy. She has to do physiotherapy, pranayama and hydrotherapy regularly, and so, after school, she gets very little time for her studies. However, she has managed to score well and wants to become a doctor.
Recently, Nidhi's became less responsive to the therapy she was receiving as her body developed antibodies. She then underwent a complicated and expensive treatment regimen to overcome this antibody effect on the advise of Pompe disease experts at Duke's University in the US.
For Shirol, the challenges seem unending. Availability of the main drug for Pompe can be a big problem. “The highly expensive drug was discovered in the US in 2006. Right now the company is offering it to us free of cost as part of their clinical trials. If they stop sending us the medicine, Nidhi's life will be in danger,” says Shirol. Drug costs are based on the body weight of the child. “Now she is 24kg and the medicines for her cost 085 lakh per annum,” he adds.
Supportive medical help also costs more than what a middle class family can afford. “Right now I am spending around 040,000 a month on various tests, physiotherapy and sending the samples abroad,” says Shirol. He quit his job and started his own business to find more time to take care of Nidhi.
Around 500 children in India have been diagnosed with Pompe disease. “They need to be given treatment lifelong. Unfortunately, many of them are from poor families that cannot afford the treatment even for a month. So, many children affected by this disease have lost their lives for want of treatment. But the government has not started any major programme either at the state or Central level for Pompe disease,” says Shirol, the president and Karnataka state coordinator of Lysosomal Storage Disorder Support Society. The support society has sought the help of the National Human Rights Association India to preserve the lives of children with Pompe.
Neither Shirol nor his wife had a family history of the disease. Still their second child also had Pompe. “Sharada got a prenatal test done during her second pregnancy. Pompe was diagnosed and so pregnancy was terminated,” says Shirol. He hopes that developments in gene therapy may cure her daughter some day. “But it may take decades,” says the visibly anxious father.
Mahaveer Regal apartment, where Nidhi stays, looks like a large joint family during summer holidays. Children play together from morning till evening in the corridors and the ground floor. The noise drives Nidhi into a pensive mood at times. But then she will seek refuge in her make-believe world where there are seesaws, slides and lots of playmates waiting to be animated into paintings.
When Pompe strikes : By Dr Meenakshi Bhat
Pompe, a rare genetic disorder, is found in one in 40,000 people. It mainly affects muscles in the body. The initial symptoms include difficulty standing, sitting and climbing. The patient may have trouble breathing, chewing and swallowing also as more important muscles get affected. The earlier the diagnosis, the better. Those who receive treatment late may require tracheotomy and ventilator support. Heart muscles can also get affected and heart rhythm problems can happen. The muscles of the back often lose their ability to support the spine and, therefore, people with Pompe are prone to abnormal curvature in the spine called scoliosis.
In a family where one child is affected with Pompe
disease, the likelihood of the parents having another affected child is
25 per cent (1 in 4) in each subsequent pregnancy.
Dr Meenakshi
Bhat is consultant in clinical genetics and associate
professor at
Centre for Human
Genetics at Biotech Park, Electronic City, Bangalore.
Source : The Week , 1st June 2012
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Heard of Pompe, Gaucher’s? Know about them and more
Listen To Those Who Live With These Rare Genetic Disorders
Nidhi (left) was diagnosed with Pompe when she was seven years old, while Yatish (above) suffers from Gaucher’s
If you have a disease, even as serious as malaria, you know there is a
cure and that doctors can diagnose it. But have you heard of rare
genetic disorders like Pompe, Gaucher’s, Fabry and Mucopolysaccharidosis
(MPS)? These are inherited metabolic disorders that result from defects
in lysomal function. Some of their incidences are among 1 in 10,000.
The Centre for Human Genetics hosted a gathering of patients and parents with these rare genetic diseases on Saturday.
Nidhi Shirol, a third standard student of an international school, loves to paint but her life is not the same as any other student of her class. Her mother waits outside her class helping her in case she has difficulty in breathing. She is put on ventilator throughout the night. Her father Prasanna Kumar Shirol, a marketing executive and now president of Lysosomal Storage Disorders Support Society (LSDSS), says Nidhi was a normal child till she was nine months old.
Nidhi had difficulty in crawling, standing and used to take support of her thighs to get up. “We took her to many doctors. No one was able to diagnose her condition. At Nimhans, for the first time, the doctors told us that she has myopathy, a genetic disorder. She was seven when a doctor in Davanagere diagnosed her with Pompe,” he says.
She was on ventilator 24X7 for almost a year. Now she is undergoing an enzyme replacement therapy that is helping her recover slowly.
Ten-year-old Tejas Udayshankar loves to dance and is one of the brightest kids in his school. But his joints are swollen, back crouched and he looks as small as a two-year-old. The lively boy was diagnosed with MPS very recently. He also underwent a surgery to keep his spine straight. Otherwise, his head would roll back. “He was a healthy baby, weighing 4.7 kg. When he turned four, we realized something was abnormal but no doctor could diagnose what was wrong,” says his father N Udayshankar. Udayshankar is married to his paternal aunt’s daughter. (Consanguine marriage).
Another case of consanguine marriage is that of Ramesh M, whose six-year-old son Yatish M is suffering from Gaucher’s. His spleen had become huge and stomach bloated and no one could diagnose the reason. He has hardly grown and looks younger than his younger brother who is four years old.
Many such patients gathered at the centre for human genetics to get their children screened. “These group of rare inherited metabolic disorders are usually found among 1 in 1,000 patients but some of them are as rare as one in a million,” explained clinical geneticist at the centre for human genetics, Dr Meenakshi Bhat.
Source : Time News Network
