“I watch my 16-month-old daughter Sera bravely fight an ultra-rare disease every day,” said a tearful Michael Andrew, a desperate father waging a war not against the world but against time, against a debilitating condition, and the crushing weight of bureaucracy.
“It’s heart-wrenching to know we might lose her not because there’s no treatment but because we can’t afford it. And it’s sad that the Indian government, which can help her, has given up on her,” he said of Baby Sera Nile Fay.
The infant has been diagnosed with a condition so rare that she is the only reported case in India.
Michael Andrew and his wife Teresa, natives of Kerala settled in Karnataka’s Mysuru, are now leaving no stone unturned to save their only daughter.
Devastating diagnosis
Recalling the day their daughter was diagnosed with
this extremely rare genetic disease called infantile hypophosphatasia, they told South First, “Our hearts shattered into a million pieces when we found out about Baby Sera Nile Fay’s devastating diagnosis.”
Sera was struggling to gain weight and meet some of her regular milestones, they said, adding that she was weak, and finding it difficult to even suckle as a baby.
The couple felt something was not right. Then, Sera was admitted to Aster Medcity in Kochi when she was just five months old. Her initial diagnosis was hypercalcemia.
Hypercalcemia refers to a condition where there is an abnormally high level of calcium in the blood.
Calcium is crucial for many bodily functions, including bone health, nerve signalling, muscle contraction, and blood clotting.
However, when its levels in the bloodstream become too high, it can cause a range of symptoms and potential complications.
“Sera was treated for this, but her condition did not improve. She lost more weight. Following the advice of endocrinologist Dr Parvathy L, a genetic test was conducted on Sera and our worst fears came true,” said Michael.
Michael has by now done all possible research on this condition: How many such cases exist in the world? What are the treatment options? Which country is supporting treatment for such patients?
He told South First, “This metabolic disorder is caused by a genetic mutation that prevents her body from producing the enzyme ALPL, which is essential for bones and teeth to absorb calcium and grow in strength.
He explained: “Without treatment, her bones and teeth will begin to demineralise, making her fragile and prone to fractures.”
At her current stage, the disease is classified as severe and moderate, and the mortality rate is estimated to be 50-100 percent without treatment. It poses a substantial risk to her life, especially at such a young age.
The couple was informed that there is currently no cure for infantile hypophosphatasia, and the only available treatment is enzyme replacement therapy (ERT).
“However, this therapy is not available in India, and we were advised to import the medicine — the enzyme ASFOTASE ALFA — and administer it to Sera for her entire life,” explained Michael.
Frantic search
Having learnt about the diagnosis, the couple took to the internet and began frantically searching for the medicine. After five months of Sera being diagnosed with this condition and a lot of reading, they managed to get the prohibitively expensive medication available in February 2023.
The 12-vial pack costs ₹16 lakh. Sera will need 15 vials a month throughout her life, explained Michael.
“We managed to gather ₹40 lakh (€45,000) with great difficulty — taking various loans from family, friends, and elsewhere — and ordered the medication,” he said.
“It takes a month for us to receive the vials. We started Sera’s therapy on 1 March at the Indira Gandhi Institute of Child Health in Bengaluru under the supervision of noted rare disease specialist Dr Meenakshi Bhat. Sera is the first person in India to receive this enzyme therapy,” added the father.
“This enzyme therapy is not available in all hospitals, and not everyone is authorised to administer it either. So, we are doing it under Bhat’s supervision,” he said.
They booked the drug Strensiq (Asfotase Alfa – Branded Name) from Germany in July, having raised a total ₹75 lakh (€83,000) from friends, family, and self-funding.
Under-mineralised bones
Infants diagnosed with HPP face a myriad of debilitating and life-threatening challenges. In Sera’s case, her bones are extremely brittle, one of the primary characteristics of HPP.
With under-mineralised bones, Sera is susceptible to fracture, even from mild trauma. Simple activities like diaper changes can cause bone fractures.
The underdevelopment and fragility of the rib bones in Sera often lead to respiratory issues. The weak rib cage can’t provide the necessary support for normal lung expansion and contraction, leading to respiratory insufficiency
“Sera is susceptible to severe breathing issues, too. She even had trouble feeding as a baby. The muscle weakness associated with the disorder can make sucking and swallowing difficult,” explained Michael.
Her condition can worsen if not treated. This includes skeletal abnormalities like bowed legs, soft skull bones (craniotabes), and widened wrist and ankle joints. These changes can affect mobility and overall physical development.
Due to the combination of muscle weakness and fragile bones, infants with HPP often exhibit delays in motor milestones.
There was hope in Michael’s voice when he said Sera’s condition had shown remarkable progress once her therapy started.
Sera, who wasn’t able to meet her motor milestones like holding her head up, can do so now at the age of 16 months — with just eight months of enzyme therapy.
“This small improvement in her has given us some hope. We know that this treatment is working. But we are exhausted financially. We have no money left to buy the vials,” cried Michael.
He said it was crucial to continue her treatment to avoid the onset of respiratory issues and the development of rickets.
Govt silent as fund lies unused
“However, the cost of this therapy is beyond our means,” said Michael. “It is unfortunate that the Central government, despite several requests, letters, and emails, is unresponsive.”
Dr Sanjeeva N from IGICH in Bengaluru initiated the process to secure funds from the National Policy for Rare Diseases (NPRD) in April, based on the guidance of the Rare Disease Cell. The application, under the reference UHID NO: CHG_SF_497, awaits swift action from the relevant authorities.
Rare diseases fall into three main categories. Diseases in Group 1 can typically be addressed with a one-off treatment, and a budget of ₹50 lakh is often enough. However, the funds tend to fall short for Group 2 and Group 3 diseases, which require ongoing and exceptionally costly treatments, respectively. The technical committee that reviews funding requests is often hesitant to release the funds, doubting their effectiveness for such conditions, said Michael.
According to sources, the government seldom releases funds for such cases since they feel the chances of survival are bleak and denies paying even ₹50 lakh to cases like that of Sera, though they are eligible under the NPRD. Media reports said that in 2019-’20, ₹100 crore was allotted and only ₹1.30 crore was spent for such rare cases in the country
Michael has written several letters to the Union Health Ministry. He even requested the Karnataka health minister to look into the issue as matters are under the jurisdiction of the state.
The state government should be involved in supporting these patients, he requested the health minister Dinesh Gundu Rao. Since Michael belongs to Kerala he applied to the Kerala health ministry too.
It may be noted that though Karnataka has an estimated 3.6 million people with rare diseases, only 2,946 have so far registered with the National Registry for Rare and Other Inherited Disorders. According to sources, crores of rupees are announced annually, which does not help the affected families, sources said.
Meanwhile, Michael has also written to the ministry that globally these children and parents of hypophosphatasia get support through government bodies. The NHS in the UK has agreed with the manufacturer Alexion to provide continued treatment for the parents of HPP-affected children.
Since Sera is the only child — as of now — in the country diagnosed with this condition, Michael has requested the government to consider her case as a “special one” and grant money for the treatment.
“Only a collective support along with government backing can save my daughter,” said Michael. He said the couple is now looking for financial support from any possible source. They have even started a petition on change.org to seek support to help fund Sera’’s lifelong treatment and also for policy decisions to help children like Sera fight ultra-rare diseases.
“Time is running out. We have only 20 vials left. We need to order fresh vials this month. If I stop the therapy Sera will start facing severe respiratory problems. I can see her condition improving with this medicine. But I still need a lot of money. No help is coming,” lamented Michael.
Michael needs to secure the next set of enzymes by November and needs ₹96 lakhs to purchase drugs for six months. “Sera is gaining weight we need a higher dosage from August,” he said.
“Sera is responding admirably to the therapy by the grace of God she has not experienced any adverse effects. We’ve drained our savings, knocked on countless doors, shouted from rooftops, all for a few more moments of her laughter,” the hapless father said.
Michael cannot imagine a life without his little girl. In 2017, he found from IGICH hospital that there was another child with the same condition but the baby passed away.
He has pleaded with bureaucrats, CEOs of various companies, philanthropists, the public in general, politicians, non-government organisations, and crowd-funding platforms to come forward and help them procure medications for Sera.
“This has to happen within one month. I will have to stop her treatment if the medicines are not procured immediately. We are running out of time. She is in a critical state. Please help,” he pleaded.
Cure for Sera’s condition
Amid the darkness, a sliver of hope has emerged from an unexpected corner. After writing to two researchers in the US, Michael found out that AstraZeneca, the pharmaceutical titan behind the precious drug, is on the cusp of a significant global trial.
The family is already in talks with the pharmaceutical company. If Baby Sera can sustain her treatment until she turns two, she might qualify to participate, potentially availing of free medication during the trial phase.
With eyes glistening, Michael added: “If Sera can just hold on until next year… my baby will survive. She needs to stay alive until then and she needs medications until then. Please come forward and help me save my baby.”
Link for original Article : https://thesouthfirst.com/health/what-if-baby-sera-is-your-child-she-has-ultra-rare-health-condition-and-needs-timely-help-stay-alive/
