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Suruchi Trehan
A 7-year old child unable to walk, speak or even understand, not a sight a parent would want to wake up to everyday. Each day is a new story of symptoms in Maple Syrup Urine Disease(MSUD). Rare disease accounts for about 70 million patients in India. MSUD if left undiagnosed leads to serious complications including fatality.
A healthy looking baby named Azhar was born to Areeba and Abbas in 2013. Little did they know their world was going to be upside down in the next few days. Just after 5 days of his birth, his health started deteriorating. He was admitted to hospital thinking he had a minor infection which babies sometimes acquire. The doctors started treating him with general medication but he wasn’t getting any better. They also started him on antibiotics and misdiagnosed Azhar for meningitis. Areeba mentioned -“Azhar refrained from having breast milk but the doctors felt that it would deprive him of the essential nutrients, so they asked me to continue with the breast milk as well as include the powdered milk available in the market”. Azhar kept getting worse. For the next 10 days, he stayed in the hospital with a declining condition with still no clue of correct diagnosis. He was discharged at this point and taken home where after 2-3 days, he started becoming cranky, with high-pitched crying and was lethargic at all times. Azhar continued to refrain from taking mother’s milk but the parents were asked to keep feeding him to complete his intake of nutrients. Abbas told-“His condition didn’t improve and Azhar choked and the milk went inside his lungs”. He was on a ventilator for about 7 days, still undiagnosed. The doctors decided to send his blood sample for genetic testing for provisional diagnosis of the disease. Unfortunately, the baby had passed away after 22 days of being born. The genetic analysis came back 10 days after his demise where he came positive for Maple Syrup Urine Disease.
Maple Syrup Urine Disease (MSUD) is an in-born metabolic disorder leading to increase in levels of branched-chain amino acids (BCAA) like leucine, isoleucine and valine. High levels of untreated amino acids lead to irreversible brain damage. This peculiar name comes from the smell of maple syrup which is observed in infant’s urine. In MSUD, the baby has trouble sucking breast milk, of which further intake increases the already uphill levels of BCAAs. Cranky, high-pitched crying and lethargy are the common symptoms in MSUD, clearly observed in Azhar’s story.
Areeba and Abbas were blessed with another child in 2014, but this time they were aware of the possibility of having another child with MSUD. They had another son, Aayub whom they got tested on his 3rd day of being born. He turned out to be positive for MSUD on his 6th day. They approached two of the biggest hospitals in Delhi, where the doctors refused the child of treatment and also of any hope of him staying alive. Areeba said -“We were asked to think of another child as they told us that Aayub won’t survive”. We were devastated and our last resort was AIIMS paediatric department. They stopped his breast milk feed immediately and put him on IV fluids to bring down his amino acid levels. Paediatricians at AIIMS tried to the best of their knowledge to manage the BCAAs levels as it was the first case of MSUD at AIIMS, but they failed miserably. Aayub stayed unconscious for about 10 days. Even after 12 days of admission, they couldn’t improve his condition. The continuous elevation of leucine in the body led to his developmental delay. The next few years were even more difficult for the family as Aayub had regular episodes of infection along with leucine getting higher each time. Situations went out of hands many times like in case of pneumonia at the age of 1, resulting in dystonia.
Areeba and Abbas,despite all the pain, managed to learn so much about the management of the disease by connecting with multiple parents internationally through various support groups. They also connected with dieticians in the US to gain knowledge about the specialised formulas available for MSUD patients. They attended symposiums and conferences as they felt helpless regarding information related to MSUD in India. While talking to one of the parents in the US, they got to know about the emergency regimen commonly used in managing very high levels of leucine in MSUD. They shared this knowledge with their doctor which helped them finally bring down Aayub’s BCAA levels. Sadly, it was too late for his development. He had already missed many of the developmental milestones of his life as his brain was severely affected by now. Presently, he is 7 years old with an inability to walk, speak or even understand words. He is in constant watch of his parents and can’t be left alone even for a second.
Both Azhar and Aayub took birth in a city like Delhi and still faced numerous challenges in diagnosis and treatment of one such rare disease called MSUD. The awareness of MSUD along with other rare diseases is marginal in tier-II and tier-III cities in India. We need continuous awareness programs among clinicians regarding management of the disease. Genetic diagnosis should be made economical and available across the county. Areeba and Abbas over the years have understood the importance of prenatal testing. They believe that many children with inborn errors of metabolism can be saved if they could undergo genetic testing. They realise that if their child would have got proper diet and treatment immediately after birth, he would be living a normal life like other MSUD patients in the US. Even after the diagnosis, the major setback in MSUD is the expenses related to the management of the disease. The specialised formula mainly available via US costs about 5 lakhs per year to Areeba. The other available treatment of MSUD is by liver transplant being expensive and complicated in many aspects. We should invest in alternative solutions on one time disease correction by gene therapy or probiotic based complementation of missing metabolites.
I applaud the efforts taken by Areeba and Abbas for their child and still cannot imagine the journey they have experienced all these years. Every day for them is a new chapter of symptoms and troubles. They do believe that knowledge among doctors has increased over the years but still has a lot of room for improvement. Being a prevalent in-born metabolic disorder in India, infants should be tested for MSUD in order to minimise the casualties.
Names of the family members have been changed for the article.
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Suruchi Trehan is a researcher at the CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) in India and works on Maple Syrup Urine Disease. All opinions expressed in this article are based on a real life interview story with a patient and his family that was conducted by the author.
Listen to Ms Surichi Trehan on her research on Maple Syrup Urine Disease (MSUD)
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