Denied a chance of a cure

W hen Nidhi was around three to four months old, she began to suffer from frequent liver related problems and pneumonia. As time passed, we realised that the expected milestones for infants were not being met by our daughter. At the age of one year she was not able to sit up, she did not stand and was not able to sit up.

We were staying in Hubli. Karnataka at that time. When Nidhi turned two and a half years, we brought her to National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore to see a neurologist. Her biopsy results revealed that she had Glycogen Storage Disorder Type2 – a muscle degenerative disorder. There was no treatment for her disease. We were told that her illness was progressive in nature and by the age of 10 or 12 years, she would completely collapse.

The world collapsed around us. We were heartbroken. In desperation we took her to many doctors and religious seers. Her pneumonia breakouts continued. In early 2007 we found a doctor in Davangere, Karnataka, who worked on our case for months together. It was here that she was diagnosed with Pompe Disease. We were told that there was a new drug released in the US but it was costly and was not available at that point of time.

In September 2007, Nidhi fell very ill again and was put onto a ventilator in a hospital in Davangere. She was on a ventilator for a week but showed no signs of improvement. It was a serious breakout of pneumonia. While normal people usually cough and remove the phlegm from their lungs, Nidhi’s muscles were so weak that she could not even cough. As a result the phlegm remained in her lungs. The doctor there was unable to treat her further.

I would not give up that easily. We arranged for an ambulance and brought her to Manipal Hospital in Bangalore. A miraculous event occurred on the way from Davangere to Bangalore. Due to the constant jerks and bumps while travelling on the road, her lungs automatically pushed out the phlegm. When we brought her to Manipal Hospital, they were easily able to suction out the phlegm and her lungs cleared. She continued to be on a ventilator in the ICU. It is very depressing for a small child to be in the ICU for so long. She was otherwise perfectly normal except that she needed ventilator support. A lot of children get worse being isolated in the ICU ward. After repeated requests, the hospital allowed us inside the ward. This was a big relief for all of us and she was also allowed to watch movies on TV/video.

At that time, the doctor suggested that we do a tracheotomy and insert a tube directly into her lungs. This allowed her to have a normal intake of food. However she lost her ability to speak properly but we had no choice. She was then shifted from the ICU.

Since Nidhi now needed a ventilator constantly, we decided to invest in a ventilator and other ICU equipment to be set up at home for Rs 10 lakhs. I even took a house opposite Manipal Hospital so that for any emergency we could take her there immediately. We tried to procure the medicine from abroad but it was too expensive.

I then contacted the Pompe Association for support. In January 2008, Genzyme developed an Enzyme Replacement Therapy (ERT) drug. It was an injection which needed to be taken every 15 days. For a body weight of 20 kg, injections worth Rs 70 lakhs approximately, per annum are needed. This drug stops further deterioration of the muscle. By God’s grace and due to our association with the Pompe Association, Genzyme has made this drug available free of cost for my daughter.

Nidhi Shirol with her parents

This is a big relief for us. However, because she was put on this drug too late, there are parts of her body that have already suffered damage. For example, early last year, her spine gave away completely and she could not even sit in an upright position. Doctors had to do scoliosis surgery and insert rods down her spine to support her back.

She is paralysed from the waist down and needs constant attention 24×7. My wife is her constant companion. She gets up two to three times at night to move Nidhi to a different position as she cannot move by herself.

We try and keep her as comfortable as possible but she knows that all her life she will need constant support. We take her out for movies and long drives and check in advance at the theatre to see if they have a proper socket so that we can connect the ventilator for the time spent watching the movie.

While the Genzyme drug is a life saver and has helped arrest further deterioration of her condition, I wish that there was some medication available that could repair the damage that has already happened … that could somehow revive and bring strength back to her muscles so that she can perform her normal body functions by herself.

I believe that there are a few companies companies in the US in various stages of clinical trial that are testing alternate therapies like gene therapy that could give Pompe patients the ability to lead a ventilator-free life and bring considerable improvement to different forms of Pompe disease. I would like my daughter to participate in these trials. However due to the uncertain conditions in India, foreign companies are hesitant to conduct research here. Many patients like my daughter are deprived of these life saving treatments which is a tragedy. As a father, it is my mission to ensure that I do my very best for my daughter. I have contacted almost every such company in the US as well as every doctor whether in India or abroad who are treating this disease. My dream for my daughter is to just see her be able to do things by herself so that she gets some chance at leading a normal life.

(Based on his family’s personal experience of caring for his daughter, Prasanna Shirol has helped create parent support groups. In October 2008, he started the Lysosomal Storage Disorders Support Society (LSDSS), along with other LSD parents, the country’s first national level parent support group for a rare disease of the same name. It was instrumental in the observation of Rare Disease Day for the first time in India on a national scale to create awareness and is today advocated with more than 10 state governments and the Central Government.

Besides being the Founder Member & Founder President of LSDSS, he is the President, of Pompe Foundation, which he started in April 2011.

He is also a founder member of Organisation for Rare Disease India (ORDI) which was started in January 2014, as a voluntary non-profit organisation founded to represent the collective voice and needs of the rare disease patients and stakeholders in India. ORDI aims to address the unmet needs and create opportunities that benefit rare disease patients in India. Based on their experience and extensive feedback from the Indian rare disease community, ORDI has identified several urgent action items for the benefit of patients of rare diseases in India. He is also Regional Manager-Clinical Business, Strand Life Sciences).