Bone marrow transplant changes two-year-old bedridden Adhiraj's life
MUMBAI: There's a reason two-year-old
Adhiraj Gaikwad
's parents admitted him to a hospital in Mumbai for diarrhoea rather than a facility closer to home near Swargate in Pune.
For one, Adhiraj was born with not one but two
rare genetic disorders
. Additionally, he underwent a
bone marrow transplant
to cure one of the conditions at this city hospital five months ago. On Friday, doctors at
Kokilaben Ambani Hospital
in Andheri said he is improving and should be discharged soon.
'As the transplant is quite recent, we have to get him here for regular checks and in case of any infection,' said his 34-year-old father, Mayur, who left his job as a marketing executive to gather funds for Adhiraj's treatment. The bone marrow transplant (BMT) cured him of one of the rare conditions called
Mucopolysaccharidosis Type 1
(MPS 1), also known as Hurler syndrome or gargoylism, which affects only 10 in a million children.
However, Adhiraj continues to suffer from
Fanconi-Bickel Syndrome
, a rare glycogen storage disease in which the body is unable to process glucose and galactose. It has no cure, and the patient can only eat a corn starch-based diet for life.
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Adhiraj, who was born 28 months ago, missed developmental milestones in the first six months. 'He wouldn't roll over like other children do and seemed grossly underweight,' said his father.
After visiting multiple doctors, his parents were advised by doctors at Bharati Vidyapeeth Medical College in Pune to conduct genetic tests that revealed MPS1 and Fanconi-Bickel Syndrome. Due to these conditions, the child was non-verbal, had bodily and facial deformities, along with impairment of vision and mobility, said the doctors.
MPS1 was previously referred to as "gargoylism" as the children had certain facial features such as a prominent forehead, widely spaced eyes, a prominent nose, and a short neck that led to the association with mythical gargoyles.
Through online support groups, the Gaikwads first went to KEM Hospital in Parel, which is a designated Centre of Excellence (CoE) for rare diseases by the union health ministry. The hospital provided the special enzyme shots for a few months but recommended a bone marrow transplant for Adhiraj.
MPS1, a lysosomal storage disorder in which an essential enzyme called hyaluronidase is not produced in the body, has a low incidence of one in 100,000 live births. 'India possibly has 200 children born with this disease,' said KDAH's paediatric oncologist Dr Santanu Sen, who treated Adhiraj.
Most children with MPS1 never get diagnosed. Soon after birth, they develop coarse facial features, their development gets impaired, their intelligence gets compromised, and organs such as the liver and spleen become big and their joints get stiff. 'They often suffer from infections and could get cataracts and heart problems,' said Dr Sen, adding that the children rarely survive beyond eight years.
The enzyme replacement treatment that KEM offered for free to Adhiraj costs between Rs 2.2 lakh to Rs 2.5 lakh per vial. A child needs two vials per week, with the monthly treatment costing around Rs 18 lakh.
'Hence, BMTs are a good option for children with MPS1. But, worldwide, less than 100 BMTs have been for this disease,' said Dr Sen.
Before Adhiraj returned to Mumbai with his current diarrhoea problem, the Gaikwads had begun noticing changes in his health. 'It's like a switch in the brain has been turned on, and suddenly the withdrawn child who wasn't moving much has changed,' said the doctor.
Mayur said his son was 7.5 kg at 22 months when he underwent the BMT. 'He has put on weight, and we have been noticing a lot of change in him. He is now able to sit with support. He smiles, laughs, and interacts a lot more than before,' he added. The family has already spent lakhs on his treatment so far. 'While the social workers at KDAH helped us generate funds for the transplant, we will need finances for his rehabilitation and management of the Fanconi-Bickel Syndrome,' he added.
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