Back in 2020, three-year-old Amol was diagnosed with Adrenoleukodystrophy (ALD), a genetic disorder linked to the X chromosome. That marked the beginning of a long and exhausting journey for his family—not just against the disease, but against every passing day that seemed to steal a little more of his childhood.
“We started regular MRIs, trying to stay ahead of whatever came next. Treatment for Addison’s disease was ongoing. Doctors told us he had slow growth since birth, was hyperactive, but nothing seemed immediately alarming. Still, something didn’t sit right,” said his father, Vijay Maurya.
Amol laughed, played, stumbled—at first, we thought it was normal. But then the falling became frequent. He started struggling to walk. Balance issues crept in. His legs trembled; bruises became routine. Walking, something so natural, became a daily battle.
“In September 2024. The MRI report arrived—and our hearts refused to believe it. He was diagnosed with Cerebral ALD, most severe and progressive form of ALD. Those weren’t just medical terms for us—they spelled out our child’s future. His memory, his speech, his innocent laughter—everything was now at risk,” recalled Mr Maurya.
The moment Amol’s family heard the diagnosis, they didn’t waste a second. A Bone Marrow Transplant (BMT) was the only known hope. That desperate hope pulled them all the way to Delhi—clinging to a thread that was fragile, but still holding.
Seeking Help
After Human Leukocyte Antigen (HLA) test, the family found a 100% match donor but unfortunately, he refused, as a result bone marrow was taken from father (half match), which increases complications during BMT. His father, Vijay Maurya, now pleads with the public for financial support, as the cost of life-saving care has already exceeded ₹50 lakhs. Initially, the doctor estimated the cost of treatment to be about 20-25 lakhs.
Types of adrenoleukodystrophy (ALD)
There are four types of ALD:
- Childhood cerebral adrenoleukodystrophy (also known as cerebral ALD, CALD, or CCALD)
- Adrenal insufficiency, also called Addison’s disease
- Adrenomyeloneuropathy, a form of ALD that affects the spinal cord and nerves, typically in adult men
- Asymptomatic ALD, which occurs in people who have a mutation in the ABCD1 gene but no symptoms.
Symptoms:
- Hyperactivity: Quick temper, throwing things when upset. Self-harming behavior, such as pressing or choking the neck.
- Learning Disablities: Progressive learning difficulties, poor academic performance, and inability to write down what has been studied during exams.
- Visual Impairment: Seeing double (for example, the child often said, “Mom, you look like two people”). Difficulty focusing, with the vision appearing skewed or tilted.
- Hearing Loss: Difficulty hearing from both ears.
- Poor Coordination: Difficulty with coordination, leading to frequent falls while playing or walking home from school.
- Increased Skin Pigmentation: Darkening of the skin (due to Addison’s disease).
- Intermittent Vomiting: Occasional vomiting, particularly during travel.
- No Motion Control: Inability to control bowel movements, sometimes leading to accidents (especially at school). Urgent need to go to the bathroom when the urge strikes at home.
Incidence:
Cerebral adrenoleukodystrophy, also known as cerebral ALD or CALD, affects the brain, occurs in about 1 in 21,000 boys between ages 4 and 10, affecting about 35 to 40 percent of boys with the ABCD1 mutation. Females with the ABCD1 mutation are highly unlikely to develop CALD.
Family Shattered by Multi-Generational Genetic Illness
The Maurya family has suffered greatly from Adrenoleukodystrophy (ALD). In 2019, Amol’s elder brother was diagnosed at age 9. Despite consultations at AIIMS, New Delhi, his advanced disease left no treatment options. He died in July 2021, after two years in a coma.
A year later, both Amol and his maternal uncle were diagnosed with the condition. The uncle has since developed severe bladder dysfunction and vision loss. Genetic screening revealed that Amol’s mother and grandmother are carriers, indicating a high-risk profile across the family.
Rapid Disease Progression Sparks Urgent BMT
Amol’s initial MRI in September 2024 showed a Loes score of 1 (Loes Score is a radiological scoring system used to assess the severity and progression of Cerebral Adrenoleukodystrophy), suggesting early-stage CALD. But within just one month, the score surged to 6 — a warning of fast-advancing neurological damage.
Doctors at Sir Ganga Ram Hospital, New Delhi, advised an urgent bone marrow transplant. Although a full-match donor was initially identified, they withdrew. With no time to spare, Vijay Maurya donated his own bone marrow despite being a half-match — a decision that increased the risk of post-transplant complications.
Painful Complications After Transplant
The BMT was performed on December 19, 2024, following rounds of chemotherapy. In the weeks that followed, Amol faced severe complications:
- CMV virus activation, causing painful mouth ulcers and skin burns
- Liver and kidney infections
- Subsequent Adenovirus infection, causing recurring fever and hospitalizations
- Discovery of congenital duplex kidneys and a smaller right kidney, adding to the complexity of treatment
A recent Chimerism report confirmed 100% DNA match from his father, indicating transplant success — but doctors say ongoing care is essential for at least one year.
Treatment Cost Spirals Beyond Reach
So far, Amol’s treatment has cost the family over ₹50 lakhs. With weekly tests, blood transfusions, medications, and hospital stays, the financial burden is growing unsustainably.
“I’ve already lost one son to this disease,” said Vijay Maurya. “I’ve given my bone marrow to save Amol. But we cannot afford to continue without help.”
What Is CALD and Why Early Detection Matters
CALD is a severe form of Adrenoleukodystrophy, a genetic condition caused by mutations in the ABCD1 gene. It leads to the accumulation of very-long-chain fatty acids (VLCFAs) in the brain and adrenal glands. CALD mostly affects boys between ages 4 and 10 and is fatal within 2–3 years if not treated early.
Early detection through genetic testing and regular MRI scans is critical. Once neurological damage sets in, it becomes irreversible.
Emerging Treatment Options and Trials in India
Treatment options for CALD include:
- Gene therapy (SKYSONA) – Available in India but unaffordable for most families
- Stem cell transplant – A lifesaving method using a genetically matched donor’s healthy cells
A new investigational drug, Leriglitazone, is now on trial in AIIMS and Sir Ganga Ram Hospital. While early data is promising for AMN, its effect on CALD is yet to be confirmed.
A Father’s Plea: “One More Effort Could Save Him”
The Maurya family has created a Facebook page to raise awareness about ALD.
“We have been through unimaginable pain,” says Vijay Maurya. “If we lose Amol, it won’t be because the treatment failed — it will be because we couldn’t afford to finish it.”
The family has also started a crowdfunding page to support Amol’s treatment, holding onto hope and asking for help in the toughest fight of his life.
- Amol Maurya, a 7-year-old boy from Pratapgarh, Uttar Pradesh, is undergoing high-risk treatment for Cerebral Adrenoleukodystrophy (CALD).
- His elder brother died from the same condition, while several other family members are affected or carry the gene.
- With treatment costs exceeding ₹50 lakhs, Amol’s father, Vijay Maurya, has issued a public appeal for help.
