Gripped by the fear of losing a child to Gaucher’s disease
View(s):By Kumudini Hettiarachchi, Pix by M.A. Pushpa Kumara
There is a whimper from the hospital bed and immediately both mother and father are by her side. They are anxious and worried, a cold fear gripping their hearts.
Will 12-year-old Tharindi die on them, like their seven-year-old Hasanga did, is the fear that is with them every waking moment and also haunts them even during their fitful hours of sleep.
The picture says it all: Why us, asks Nilanthi as she sits at the bedside of her daughter Tharindi (above, inset) at the LRH along with her husband and little son, who is also showing signs of the disease.
The first signs of trouble began when Tharindi was just three years old, and her stomach swelled and bloated up, says Nilanthi Kumari of Welimada who has given her life to the vocation of moulding children as a Buddhism teacher at Keppetipola Vidyalaya. Husband Chandana Kuda Bandara is a Samurdhi Officer looking after the needs of impoverished people.
“Our daughter was not growing. The stomach continued to swell and the family was in a quandary,” she says. It was Gaucher’s disease.
The endless hospital rounds began. It was Consultant Paediatrician Dr. Mudiyanse of the Peradeniya Hospital who told them that Tharindi’s condition indicated that something had gone wrong with her metabolism. They faced the trauma of Tharindi’s spleen being removed. When the problem of “le adu weema” arose, she had to be given blood transfusions.
Finally in July 2012 they were referred to the Lady Ridgeway Hospital for Children (LRH) in Colombo. It was a scary time for them, as the little girl started bleeding from her nose and the doctors rushed her to the operating theatre. The family had already been struck by one tragedy. Their son who was bedridden from birth dying in 2011.
As Nilanthi says with justifiable pride that Tharindi secured 138 marks at the Grade 5 Scholarship examination in 2011 without any tuition, while being ill most of the time, the family is desperate to prevent a second tragedy.
If only, if only we had the money, she weeps, for the doctors have told them that if they can keep Tharindi alive until she becomes 18, “just six more years” she will be able to overcome this illness and keep death at bay. But to keep her alive they need to give her an injection each month costing Rs. 500,000, and they in their wildest dreams cannot even imagine that they will be able to save in a lifetime, let alone find the money each month for 72 long months.
To add to their woes and worries, their youngest, five-year-old Kavindu who is due to begin school this year is showing signs, all too familiar to them now, that the same illness is gripping his body as well. Hugging his father tightly while seated on his lap in a hospital chair, Kavindu only wants a bottle of water and a lunch box to begin schooling at his mother’s school, he whispers when asked what he wishes for.
Nilanthi and Chandana wonder aloud why this fate has befallen them, when both of them are serving people in this country with dedication. Like all those children suffering from cancer, haemophilia and thalassaemia who benefit by the benevolence of the state, they too wish they would get a helping hand to save their children.
Close-by to this family in distress is another mother and daughter facing the same fate. Twelve-year-old Thamashi from Badulla too is a victim of Gaucher’s disease.
It was when she was about three years old that she kept crying nonstop with her mouth wide open, recalls R.M. Devika Priyanga who does the frequent hospital visits with her daughter while her husband toils as a labourer taking on any work that comes his way. “On numerous occasions, we nearly lost our daughter,” says Devika.
The illness is not only taking a heavy toll physically but also mentally on this family as well, disrupting their work and home lives and leading to the neglect of Thamashi’s two older brothers.
“I just need to keep our daughter alive,” says Devika, as the silent tears flow unbidden.
A rare disorder
Gaucher’s disease is a rare, inherited disorder, says the Senior Registrar of LRH’s Ward 4, Dr. Hemal de Silva who looks after both Tharindi and Thamashi under the guidance of Consultant Paediatrician Dr. Padmakanthi Wijesuriya.
Pointing out that there are only about 8,000 children worldwide who are surviving, he says that in Sri Lanka about 25 children have been diagnosed with Gaucher’s disease. What happens is that usually unwanted lipids are metabolized and discarded through the excretory system in the form of stools and urine. In the case of children who are afflicted by Gaucher’s disease, these unwanted lipids, without being discarded, get deposited in organs such as the spleen, liver and bones and very rarely the lungs. Over time, the spleen and the liver would get enlarged and cause them to malfunction.
There are three types – Type 1, 2 and 3, the Sunday Times learns. In the case of Type 2 lipids can also get deposited in the brain while in Type 3 brain involvement comes later. In Sri Lanka, Gaucher’s disease is diagnosed through a bone marrow biopsy, while in countries such as India blood samples are screened for enzymes, Dr. de Silva said, adding that the natural course of the disease is death.
Those suffering from Type 2 where the brain gets affected will survive only for about two to three years and die as it is untreatable while those with either Types 1 or 3 will survive if given enzyme replacement therapy. Those who have Type 1 will survive into adulthood but have an untimely death if not treated with enzymes and those with Type 3 will live about 10-15 years without enzyme treatment.
Both Tharindi and Thamashi have the treatable Type 1, says Dr. de Silva. If the lipids get deposited in the bone marrow, it affects the production of all the blood cells, according to him. There will be anaemia when red blood cell production is hampered; infections when white blood cell production is affected and bleeding when platelet production comes down. Bleeding also comes about when the spleen gets enlarged.
Currently generous donors have given Rs. 4.7 million, but to sustain the treatment, these humble children need a lot more funds. While we are working closely with the Health Ministry and the Medical Supplies Division to provide them the injections through the state sector every month, it would be good if people can also lend a helping hand, is the plea of Dr. Wijesuriya, as she adds that the ministry is very supportive even amidst all its other commitments.
If the enzyme replacement therapy is not sustained, both Tharindi and Thamashi will not reach the threshold of adulthood. There will only be mourning in their homes, while in other homes 18 will be a milestone achieved, with many a party to celebrate.
Help save a little life
Any generous donor who wishes to help these families may please contribute to Savings Account No. 74243324 of the Bank of Ceylon Super Grade branch at Borella in the name of Ward 4 Lady Ridgeway Hospital, Colombo, launched by the doctors. For more information, please contact the doctors on e-mail: gaucher.wd4@gmail.com
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