She Is The First Kid In India To Be Affected By This | Milaap
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She Is The First Kid In India To Be Affected By This Extremely Rare Disease

"We had gone to the doctor because she was not growing well at 3 months of age. Our hearts sank when we received the diagnosis. We were not expecting this at all. We have still not come to terms with the fact that our child is fighting to survive, every single day.” - Teresa, mother

Michael and Teresa’s baby girl is the first identified case in India of infantile hypophosphatasia, an extremely rare genetic disease that threatens to rob her of a future filled with joy and possibilities.

The disease has a mortality rate of 50-100%

Infantile hypophosphatasia, caused by a genetic mutation hampering the production of the vital enzyme ALPL, subjects this baby’s bones and teeth to a state of fragile vulnerability. Without treatment, her young body will succumb to the demineralization process, making her susceptible to fractures and putting her life at serious risk. The disease has already reached a severe and moderate stage, carrying an estimated mortality rate of 50-100%. But her parents are determined to give her the best fighting chance possible.

Despite her physical limitations, the little angel exhibits remarkable mental activity, lighting up the room with her captivating presence. However, her lack of physical strength has delayed critical developmental milestones, leaving her unable to sit, roll over, or stand like most children her age. Yet, it is her sweet coos and giggles that fill her parents' lives with hope and inspiration.

Lifelong treatment is the only way she can survive

The journey to their baby’s diagnosis began when she was 5 months old, seeking treatment for hypercalcemia at Aster Medcity, Kochi. Driven by their relentless pursuit for answers, Michael and Teresa consulted with endocrinologist Dr. Parvathy L, who ordered a genetic test that confirmed their worst fears. In a cruel twist of fate, they discovered that the only available treatment for their daughter's condition, Enzyme Replacement Therapy (ERT), was not accessible in India.Their last option was to import the life-saving medicine, ASFOTASE ALFA, and administer it to her throughout her life.

“Each 12 vial pack of the enzyme costs an astronomical 13-14 lakhs, and our baby requires 15 vials each month. This lifelong condition demands an unrelenting supply of the enzyme, with yearly expenses totaling a staggering 2.7 crore rupees and increasing as she grows.”- Michael

They are racing against time and fate to prevent the worst 

Determined to save their daughter at any cost, Michael and Teresa embarked on a fundraising journey. With the support of their incredible network of friends, family, and personal contributions, they managed to secure a three-month dose of (Asfotase Alfa) from Germany at a cost of INR 40 lakhs. This pivotal moment marked the beginning of therapy on March 1st, 2023, under the expert guidance of Dr. Meenakshi Bhat at the renowned Indira Gandhi Institute of Child Health in Bangalore. Their baby girl became the first recipient of this revolutionary enzyme therapy in India.

The family's current medication supply will only last for the next two months. They find themselves in a race against time to secure the next set of vital enzymes before May 2023.

"We pray for a future where our child can grow strong, explore the world, and experience the joy of childhood. As she enters her eleventh month, the need to continue her treatment becomes increasingly urgent. Without proper funding, the risk of respiratory complications and the development of rickets threatens her fragile existence." - Teresa, mother.

With the community’s help, this baby can look forward to a tomorrow full of joy, and free of suffering. Click here to donate.

Charity No : 319201431163
Identity of the child is protected in adherence to government guidelines
Patient Baby of Michael and Teresa is 10 months old, living in Mysuru, Karnataka
Being treated in CENTRE FOR HUMAN GENETICS, Bengaluru, Karnataka

Receiving treatment for Hypophosphatasia, Infantile / HPPI

Click here to know more about Baby of Michael and Teresa