'Diagnostic Anomaly' is a Health And Me Series, where we dive deep into some of the rarest of rare diseases. Here, we trace such diseases and what causes them. We also try to bring case studies around the same.

It begins quietly. A newborn, a bit more limp than others, doesn’t cry much. Feeding is a challenge — not because the baby refuses, but because their muscles are too weak to suck. Doctors may call it hypotonia. Parents, unaware of what’s to come, might just think their baby is a little “slow to start.” But beneath the surface of that fragile life could lie Prader-Willi syndrome (PWS) — a rare genetic enigma that transforms the body’s basic drives into lifelong challenges.

A Rare Genetic Disease

Prader-Willi syndrome affects between 1 in 10,000 to 1 in 30,000 people globally, with about 10,000 to 20,000 Americans living with the disorder today. This complex, multisystem condition affects both males and females equally and doesn’t discriminate by race or ethnicity. What makes it even more mysterious is that most cases happen randomly — they’re not inherited from parents but arise due to spontaneous genetic errors in early development.

Only in rare circumstances does the syndrome run in families.

The Genetic Trap on Chromosome 15

To understand Prader-Willi, you have to venture deep into chromosome 15, specifically a segment called 15q11.2-q13 — also referred to as the PWS/AS region (shared with Angelman syndrome). Human cells carry two copies of each non-sex chromosome, one from each parent. But not every gene on both copies is active. Through a process known as genetic imprinting, some genes are silenced depending on whether they came from the mother or the father.

In PWS, the active paternal genes on chromosome 15 are missing or silenced, and since the maternal copies are always naturally “switched off”, this leaves the person without a functional set of those genes.

In 60–70% of cases, a random deletion wipes out this crucial paternal region.

In 30–40%, individuals inherit two maternal copies, with no paternal copy at all.

Rarely, mutations, epigenetic changes, or chromosomal translocations disrupt the gene function.

A Syndrome with Two Extremes

The hypothalamus, the brain’s master hormone regulator, is the primary site of impact. It governs hunger, body temperature, hormones, and sleep — all functions affected in PWS.

Infancy: The Quiet Beginning

Newborns with PWS often exhibit:

• Hypotonia ("floppiness")
• Poor sucking reflex, resulting in difficulty feeding and slow weight gain
• Low movement in the womb before birth
• Distinctive facial features: almond-shaped eyes, thin upper lip, narrow head

Childhood: A Metabolic Flip

Around ages 2 to 8, the script flips. The same child who once struggled to eat now faces insatiable hunger. The term is hyperphagia — an uncontrollable urge to eat that leads to obesity and complications like:

• Type 2 diabetes
• Heart disease
• Gastrointestinal issues

Children with PWS often never feel full, no matter how much they eat. This unrelenting hunger stems from hormonal dysregulation and altered reward systems in the brain.

Additional symptoms include:

• Short stature due to growth hormone deficiency
• Cognitive impairment (mild to moderate)
• Genital underdevelopment
• Sleep disturbances
• Nearsightedness
• Underactive thyroid
• In some, fair skin and light hair due to pigment gene (OCA2) deletion

Managing the Unmanageable

There is no cure for Prader-Willi syndrome, but with care, individuals can live into their 70s. Without intervention, complications from obesity can reduce lifespan to the 40s.

Early Interventions

• High-calorie formulas and tube feeding help overcome early feeding difficulties.
• Hormone therapy (growth hormone, testosterone, estrogen) supports physical development.
• Physical, speech, and occupational therapy assist in motor and cognitive development.

New Hope for Hyperphagia

In 2025, the FDA approved the first medication specifically targeting hyperphagia in PWS for children aged 4 and older. The drug's mechanism is unclear, but it may reduce hunger signals from the hypothalamus.

Ethical Complexity and Lifelong Vigilance

Families must enforce strict dietary control and secure food environments. Mayo Clinic experts recommend customized nutrition plans, often designed with help from a dietitian. In some households, food must be locked away to prevent bingeing.

Psychiatric symptoms, including psychosis in adolescence or adulthood, may also require medical management.

Sugar is bad for health, and we have heard this several times, on loop. But little do people realise that not all forms of sugar are bad for your body - some sugars are naturally occurring and might actually be the sweet treat you need. Fructose, for instance, found in fruits, is not as bad as processed sugar. But it is still important to know when to stop. In an interview with Health and Me, Dr Nimitt Nagda, Consulting Physician, Zynova Shalby Hospital, Mumbai, explained how natural sugar is different from processed sugar.

What is natural sugar?

Natural sugars present in fruits and milk tend to have nutrients and fibre, while processed sugar often adds empty calories that can harm health when consumed excessively. This article helps to explain how natural sugars impact the body differently when compared to processed sugars. Read on to know more about this and make sure to avoid excess processed sugar. So, adhere to healthy eating habits.

Sugar is a part of many foods that are eaten by people on a daily basis. However, not all sugars affect the body in the same way. Natural sugars are present in foods such as fruits, vegetables, and milk, whereas processed or added sugars are found in sweets, soft drinks, packaged snacks, bakery products, and desserts. While both types provide energy, the body handles them differently. It is the need of the hour to understand the difference between the two, as excessive intake of processed sugar is linked to obesity, diabetes, heart disease, and fatty liver disease. So, be cautious when it comes to your well-being.

Is natural sugar better?

Natural sugars are usually accompanied by fibre, vitamins, minerals, antioxidants, and water content. Fruits contain fructose, but they also provide fibre that slows down sugar absorption into the bloodstream. This helps maintain stable energy levels and prevents sudden spikes in blood sugar. Milk contains lactose along with protein and calcium, making it more nutritionally balanced. When it comes to processed sugar, it is quickly absorbed by the body because it lacks fibre and nutrients. This can lead to rapid increases in blood sugar and insulin levels. Frequent consumption of sugary foods and beverages may increase cravings, weight gain, fatigue, diabetes, obesity, and fatty liver disease. Processed sugar also contributes to inflammation, tooth decay, and unhealthy fat accumulation in the body. Moreover, natural foods are more filling, whereas processed sugary foods often encourage overeating because they do not satisfy hunger for long.

Natural sugars consumed through whole foods like fruits and milk are generally healthier because they come with essential nutrients and fibre that support overall well-being. Processed sugars, when consumed in excess, can negatively affect health and increase the risk of several chronic diseases. Choosing natural food sources and limiting added sugars can help maintain better energy levels, weight control, and long-term health. So, make sure to pay attention to your health without fail and limit processed sugar.

Are you planning to undergo IVF treatment? A healthy thyroid and balanced nutrition are crucial when it comes to improving implantation and supporting a healthy IVF journey. So, make sure to add these three nutrients to conceive successfully and fulfil the dream of motherhood. It is time for women to include these nutrients and focus on their health. Dr Mrunalini Jagne (Ahire), Fertility Consultant and IVF Specialist at Motherhood Fertility & IVF, Kharghar, Navi Mumbai, spoke about the rising incidence of IVF and how thyroid health is just as important for better implantation and IVF results.

Currently, many couples are opting for in vitro fertilisation (IVF). It can be physically and emotionally demanding for couples who wish to conceive. So, for those who are opting for IVF, it is also necessary to check thyroid function and pay attention to diet. Are you aware? An uncontrolled thyroid condition can impact hormone balance, egg quality, implantation, and even increase the chances of miscarriage. Along with regular medical guidance, certain nutrients may help prepare the body for implantation and early pregnancy. Hence, women should add these three nutrients without fail after discussing them with an expert.

Make sure to include these vital nutrients in your diet

1. Folic Acid: This is one of the vital nutrients before and during pregnancy. It supports healthy cell growth and helps in the early development of the baby’s brain and spine. It may also help to enhance egg quality and create a healthier environment for implantation. So, opt for foods such as spinach, broccoli, lentils, citrus fruits, and fortified cereals, which are good sources of folic acid. An expert can also recommend supplements before IVF. So, make sure to take them and stay healthy.
2. Vitamin D: This is necessary for hormone balance, immune function, and reproductive health. Low vitamin D levels are seen in women facing fertility issues and may affect implantation success. Safe sunlight exposure, eggs, dairy products, mushrooms, and fatty fish can be recommended to women to improve their vitamin D levels. However, the doctor may suggest blood tests and supplements if a deficiency is detected.
3. Omega-3 Fatty Acids: These improve blood flow to the uterus and reduce inflammation in the body. They support hormone production and overall reproductive health. Go for foods such as walnuts, flaxseeds, chia seeds, and fish such as salmon, which are rich in healthy fats that may support implantation and pregnancy health.

So, women, make sure to discuss your diet with an expert. A balanced diet, healthy lifestyle, regular medical check-ups, and proper management of thyroid conditions are crucial when it comes to supporting implantation and overall reproductive health. Try to avoid junk, oily, canned, sugary, and processed foods. Small lifestyle changes before IVF can help prepare the body better for pregnancy. So, don’t miss these nutrients and include them as per the expert’s advice.

Food allergy in children is becoming a more visible concern in Indian families, especially in urban settings where children are growing up with a different immune environment from earlier generations.

Less outdoor exposure, smaller families, more indoor living, frequent antibiotic use, air pollution, shifts in gut bacteria, packaged foods, and delayed introduction of certain foods may influence how the immune system learns tolerance. A food allergy happens when the body treats a harmless food protein as a threat and reacts against it.

Misleading Early Symptoms

The difficulty for parents is that many early symptoms look ordinary. Gas, bloating, or loose stools after a food may point to intolerance, which can be uncomfortable but is usually not dangerous.

An allergy tends to follow a more recognizable pattern involving hives, itching, swelling of the lips or eyes, repeated vomiting, coughing, wheezing, throat tightness, breathing difficulty, sudden tiredness or faintness soon after eating. In severe reactions, anaphylaxis can affect breathing and blood pressure, making it a medical emergency.

India adds another layer of complexity because possible triggers are often everyday foods. Milk, wheat, egg, peanut, fish, chickpea, lentils, and sesame are part of a child’s routine diet. Removing them altogether can deprive a growing child of protein, calories, and micronutrients, and ignoring repeated reactions can keep the child exposed to a genuine trigger. Both can harm the child.

What Should Parents Watch For

Parents should watch for patterns rather than fear every meal. If eczema flares, vomiting, wheezing, stomach pain, swelling, or rashes repeatedly appear after the same food, the child’s allergies should be evaluated.

A food diary is useful, but diagnosis cannot rest on home-based trial and error. The most important starting point is a careful clinical history: what was eaten, how quickly symptoms appeared, whether it happened again, and which body systems were involved. Based on this, a doctor may advise a skin prick test, serum-specific IgE test, or, in selected cases, a supervised oral food challenge.

The goal is simple: do not label every discomfort as an allergy, and do not dismiss repeated reactions as weak digestion. Children should remain confident around food while genuine triggers are identified, managed, and nutritionally replaced.