Home Healthcare Case Study · Rare Metabolic Disorder

Supporting Adults With Refsum Disease Through Home-Based Daily Living Care in Gurgaon

Authored by Dr. Ekta Fageriya, MBBS · Geriatric Medicine · RMC Registration No. 44780 · Published 11 November 2026

Raghavendra is a 34-year-old man from Gurgaon, Haryana, who lives with adult Refsum disease, a rare inherited metabolic disorder in which a fatty substance called phytanic acid builds up in the body. Over the years it slowly affected his eyesight, his hearing, the sensation in his feet and his sense of balance. This case study explains how a structured home-care routine, guided by his metabolic specialist and dietitian, helped him and his family keep daily life safe, organised and dignified.

1Patient Background

How the story began

Raghavendra’s family noticed the first changes before he did. He struggled to see clearly in dim lighting, and he became careful and slow on uneven surfaces, such as a kerb or a tiled floor that was not perfectly level. Everyone initially assumed it was tiredness or ordinary eyesight strain.

Over time, two more changes appeared. He began to ask people to repeat what they had said, especially in noisy rooms. And he described a reduced feeling in his feet, as if he was walking on a thick pair of socks all day. These changes slowly affected his ability to travel independently, recognise obstacles and take part in certain household activities.

Medical history

After metabolic and neurological assessment, Raghavendra was diagnosed with adult Refsum disease, a rare inherited metabolic disorder that affects the body’s ability to break down phytanic acid. His documented profile includes retinal degeneration, hearing impairment, peripheral neuropathy and difficulty maintaining balance. Details such as his sense of smell and skin condition were not specifically documented in the records shared for this publication.

Family history of the condition was also not documented. Because adult Refsum disease is inherited, this is a question his family can explore later through genetic counselling.

Lifestyle and baseline function

Before the symptoms interfered, Raghavendra managed his own daily routine. He moved around independently for work and household needs. At the time home care began, he could still complete most personal care on his own, but he needed support in specific situations:

• Moving around in dim light, especially in the early morning and after sunset.
• Walking on uneven ground, stairs and unfamiliar pathways.
• Following conversations when several people spoke together or when there was background noise.
• Noticing small objects on the floor, which his reduced foot sensation made harder to feel.

Family situation

Raghavendra lives with his family in Gurgaon. They are closely involved in his day-to-day life, and they were the first to notice and report his changes. When his specialists prescribed a low-phytanic-acid diet and a cycle of regular follow-ups, the family asked for coordinated home support so that the medical plan could actually be lived, not just written.

2Clinical Diagnosis: Adult Refsum Disease

What adult Refsum disease is

Adult Refsum disease is a peroxisomal disorder. Peroxisomes are tiny structures inside our cells that act like small recycling units, breaking down certain fatty substances the body no longer needs. In this condition, those recycling units cannot process one particular fatty substance called phytanic acid, which mainly enters the body through food. Because the body cannot break it down, phytanic acid slowly accumulates in blood and tissues.

The condition is most commonly associated with pathogenic variants in the PHYH gene and, in a smaller proportion of cases, the PEX7 gene. It is inherited in an autosomal recessive pattern, which means a person receives one changed gene copy from each parent. It is present from birth, but symptoms usually surface in late adolescence or adulthood. Adult Refsum disease is important to identify because specialist-directed dietary management can reduce phytanic acid levels and improve certain manifestations.

Clinical findings in this patient

• Retinal degeneration (retinitis pigmentosa): night blindness and restricted peripheral vision, making dim environments and side approaches difficult.
• Sensorineural hearing loss: hearing impairment arising from the inner ear or hearing nerve, not from a blockage in the ear canal.
• Peripheral sensorimotor neuropathy: damage to the nerves that carry signals between the feet and hands and the brain, with reduced sensation in the feet.
• Ataxia: balance and coordination difficulty while standing and walking.

Features that are recognised in adult Refsum disease, such as loss of the sense of smell, dry thickened skin and cardiac involvement, were screened for or asked about during his evaluations as appropriate. The specific results for these were not documented in the material shared for this publication, so this case study does not claim them either way. Cardiac monitoring simply continues as a precaution.

Neurological observations

His neurological examination documented reduced sensation in the feet along with balance difficulty. The combination matters clinically. Vision warns a person about the step ahead. Hearing warns about someone or something approaching. Sensation in the feet tells the brain where the ground is. Balance keeps the body upright over that ground. When several of these warning systems weaken together, the risk of falls rises far more than any single loss would suggest.

Laboratory, genetic and specialist assessments

His diagnostic workup included plasma phytanic acid measurement, genetic testing covering the PHYH and PEX7 genes, ophthalmological and retinal assessment, audiological testing, neurological and peripheral nerve examination, cardiac evaluation and a nutritional assessment. These assessments supported the diagnosis and shaped the care plan. Specific laboratory values, imaging descriptions and gene variant details were not documented in the records shared for this publication, and no numbers have been invented here.

How the condition affected daily life

The table lists the documented concerns from his profile. Where a feature had not been specifically assessed for him, it is listed as a recognised feature of the condition rather than a confirmed personal finding.

3Hospital Treatment and Medical Evaluation

The road to diagnosis

Raghavendra’s diagnostic journey ran through outpatient clinics, not an emergency ward. After his family reported progressive vision and balance difficulties, he underwent a structured metabolic and neurological assessment. The name of the treating hospital was not documented in the material shared for this publication, so it is not named here.

His evaluation included the following, each chosen to answer one specific clinical question:

• Plasma phytanic acid measurement: to confirm whether the fatty substance was accumulating.
• Genetic testing for PHYH and PEX7: to identify the inherited basis of the condition.
• Ophthalmological and retinal assessment: to examine the retina and map the extent of vision change.
• Audiological testing: to measure the type and degree of hearing loss.
• Neurological and peripheral nerve examination: to test sensation, reflexes, strength and balance.
• Cardiac evaluation: because some people with this condition develop heart rhythm or heart muscle problems.
• Nutritional assessment: to build a diet plan that reduces phytanic acid without losing essential nutrition.

What the treating team recommended

His medical team recommended a specialist-directed low-phytanic-acid dietary plan, alongside regular eye, hearing, neurological and cardiac follow-up. In other words, the treatment had two halves: the diet, which acts on the underlying chemistry, and surveillance, which keeps watch on the organs the condition can quietly affect.

Where medicines were prescribed, the instruction to the family was simple: follow the prescription exactly as written and do not add or stop anything without the treating team. The specific prescriptions were not documented in the records shared for this case study.

Hospital course and discharge status

No inpatient admission, surgical procedure or intensive care stay was part of this documented journey. Adult Refsum disease is managed as a long-term condition rather than an acute emergency, unless a complication such as a heart rhythm problem occurs. Raghavendra remained under outpatient specialist care, and home healthcare was added to help the family carry out the plan between hospital visits.

4Why Home Healthcare Was Needed

Most treatment for adult Refsum disease does not happen in a hospital. It happens in the kitchen, on the staircase, in the choice of light bulbs and in the way a family speaks across a dinner table. The specialists set the direction. Daily life has to carry it out. That gap between medical advice and daily routine is exactly where structured home healthcare fits.

The clinical reasoning behind the referral rested on five clear points.

1. The treatment plan is a daily-life plan

A low-phytanic-acid diet only works if every meal, every week, follows it. Lighting only protects vision if the home is actually arranged that way. Communication strategies only help if everyone at home practises them. These are not procedures a hospital can perform once; they are habits that need setup, supervision and steady reinforcement at home.

2. Combined sensory loss multiplies risk

Each of Raghavendra’s symptoms removes one layer of protection. Sight warns about the step ahead. Hearing warns about someone approaching from behind. Sensation in the feet tells the brain where the ground is. Balance keeps the body upright over that ground. When several weaken together, an ordinary room becomes a place where small things matter: a stray mat, a dim corridor, a phone call that pulls attention. Reducing risk meant rebuilding the environment and the routine around this reality, which is a practical home task.

3. The diet is strict, specific and easily misunderstood

The family needed help organising meals, maintaining adequate calories and keeping records. They also needed protection from a well-intentioned mistake: cutting food aggressively. In this condition, sudden weight loss is not a small lifestyle issue. It is a clinical risk, because stored phytanic acid is released into the blood when body fat breaks down quickly.

4. Follow-up lives across many departments

Eye, hearing, neurological, cardiac, metabolic and dietetic reviews all sit on one calendar, often in different institutions across Delhi NCR. A coordinating layer at home keeps appointments from slipping, keeps reports organised and carries questions back to the right specialist. Without coordination, follow-up quietly frays, and the first sign of trouble may be a missed review rather than a symptom.

5. The family needed training, not just help

Professional home care brings trained oversight, structured records and clear escalation rules. Families supporting a member with combined vision, hearing, nerve and balance problems benefit from caregivers who know what to watch and when to act, which is the core of structured patient care services at home. The aim was always support with independence, never takeover. Raghavendra remained the decision-maker in his own daily life wherever it was safe for him to be.

5The Home Care Plan by AtHomeCare

Initial home-care assessment

Before any service began, a nurse case coordinator completed a structured home assessment with Raghavendra and his family. The assessment focused on his vision, hearing, mobility and dietary requirements, and produced the working notes for every decision that followed.

1. Dietary routine support

Dietary support sat at the centre of the plan, because diet is the one intervention that acts on the underlying chemistry of the disease. The care team organised meals around the individualised low-phytanic-acid plan prescribed by his metabolic specialist and dietitian. In practice this meant:

• Following the individualised low-phytanic-acid diet exactly as prescribed, without substitutions decided at home.
• Helping organise meals according to the approved dietary plan, including shopping lists and cooking methods the family could repeat.
• Maintaining adequate calorie intake as directed, so that nutrition stayed complete.
• Avoiding fasting and sudden weight loss unless specifically managed by the clinical team.
• Not independently eliminating major food groups or introducing restrictive diets on the family’s own judgement.
• Maintaining a daily record of dietary adherence and any nutritional concerns, which travelled with him to every specialist review.

2. Visual assistance

Vision support aimed to make the home predictable, because a predictable environment partly replaces what peripheral vision no longer reports. The interventions were practical:

• Maintaining consistent indoor lighting, with extra attention to staircases, corridors and transition points between rooms.
• Using accessible labels and enlarged text on cupboards, medicines and files.
• Keeping frequently used belongings in fixed locations, so memory could guide the hand.
• Providing assistance in unfamiliar environments, where the mind’s map of the room does not exist yet.
• Following low-vision rehabilitation recommendations from his eye specialists.

Small changes carried most of the benefit. Contrast markings on step edges, a night light between the bedroom and bathroom, and furniture that never moved were simple, cheap and effective. Families planning similar adjustments can find practical ideas in this guide to home modifications and safer movement.

3. Hearing and communication support

Hearing support is mostly about how people talk, not about devices alone. The household adopted a small set of habits, and they changed the texture of daily conversation:

• Face Raghavendra when speaking, so lip movement and expression could support the words.
• Reduce background noise first: television down, kitchen fan off, one conversation at a time.
• Use written instructions when helpful, especially for anything involving his diet or appointments.
• Support prescribed hearing-device use consistently, if and when devices were advised by his audiologist.
• Arrange audiology follow-up as recommended, because hearing in this condition can change over time.

4. Mobility and balance support

Mobility work had two halves: the environment and the body. The environment half meant keeping walking pathways clear, using handrails, using his prescribed mobility aid correctly and getting assistance on uneven surfaces. The body half meant following physiotherapy recommendations for balance and mobility, with exercises chosen for his specific deficits rather than a generic routine.

Supervised physiotherapy at home for balance and mobility allowed practice on the actual stairs, corridors and floors where he actually walks. Progress was deliberately modest in its claims: the goal was fewer stumbles and more confidence, not a reversal of ataxia. For the environment half, the family used this practical guide to fall prevention to audit each room.

5. Cardiac and general health monitoring

The heart is the quiet part of this condition. Many people with adult Refsum disease never develop heart problems; some do. The heart muscle can weaken, or the electrical system that sets the heartbeat can misfire. Neither problem always gives an early warning, which is why the plan kept cardiology appointments on the calendar even when Raghavendra felt completely well.

At home, this meant attending cardiology appointments as advised, following prescribed cardiac medication instructions exactly, reporting palpitations, fainting or unusual breathlessness immediately, and maintaining an accessible record of medical appointments and investigations. The family also understood a harder lesson: deterioration at home usually follows a pattern, and recognising it early is a skill. This article on why stable patients can suddenly crash at home shaped how the team trained them to observe.

6. Daily living assistance and personal care

A trained attendant supported Raghavendra’s daily routine with a clear boundary: help where he asked for it, standby where safety demanded it, independence everywhere else. Support covered morning hygiene, safe walking indoors and outdoors, escorting him for work and errands, and standby presence on stairs and uneven ground. Attendant support was delivered by trained patient care takers and GDA staff who reported observations daily.

Two rules governed personal care. First, privacy: support was offered discreetly, and his preferences about who assisted and how were recorded and respected. Second, consent: every task was explained before it was done. These are not courtesies; they are clinical standards that protect trust, as described in this note on dignity, privacy and consent in home care.

7. Nursing visits and health monitoring

A nurse visited on a planned schedule to review his routine, check vitals when advised by the treating team, verify records and look for small changes the family might not name. Nurses were specifically briefed on the early warning signs that must never be ignored at home, adapted here to his profile: new weakness, worsening balance, reduced food intake, unexpected weight loss and any cardiac symptom. Every visit produced a written note, so patterns could be seen across weeks, not guessed at across memories.

8. Doctor home visits and care coordination

Periodic doctor home reviews connected the daily record to the specialist plan. The reviewing doctor checked the meal record, the appointment diary and the family’s questions, and made sure nothing between visits was drifting. Where anything clinical needed a decision, the answer came from his treating specialists, not from the home team. The home team’s job was faithful execution and honest reporting.

9. Medication management

Wherever medicines were prescribed, the home team followed safe practice: correct medicine, correct dose, correct time, and a written log that flagged anything unusual, from a missed dose to a new complaint. The family was taught to keep the original prescriptions, store medicines properly and never mix advice from different sources. For households juggling several prescriptions, this guide to medication monitoring and management at home reflects the same standards.

10. Family education and emergency readiness

The family learned the diet logic, the communication habits, safe guiding technique for walking with a person with low vision, and the red-flag list for this condition. They also learned what to do in the first minutes of an emergency: who calls, what is said, which documents travel with him. Households can build the same capability through basic emergency response training for family caregivers. Equally important, the team watched for caregiver fatigue in the family itself, because exhausted caregivers miss details. Families supporting a member long-term often recognise themselves in these signs of caregiver stress worth taking seriously.

The plan at a glance

6Equipment and Home Adaptations

The equipment list for this case was deliberately modest. Every item had to earn its place by solving a documented problem from the assessment. What the home actually used and set up:

• Hearing aids if prescribed, used consistently when advised by his audiologist, with family support for daily handling.
• Suitable indoor lighting and night lights, especially along the bedroom-to-bathroom route and on the staircase.
• High-contrast labels on cupboards, food storage, medicines and important files.
• His prescribed mobility aid, used exactly as prescribed, not improvised.
• Bathroom grab bars, because bathrooms are where reduced foot sensation and wet floors meet.
• Accessible dietary and medication records, kept in one fixed, labelled place.
• Home blood pressure or other monitoring equipment only when recommended by the treating team, not bought speculatively.

The discipline of “only what is recommended” matters. Equipment that is not clinically indicated adds clutter to a home where clutter is itself a hazard. When something was genuinely needed, the family sourced it reliably, as with medical equipment rental for home use, which also allowed items to be returned when needs changed.

7A Day in the Routine

Routines do two jobs in this condition. They protect the diet, because regular meals at regular times prevent both fasting and grazing. And they reduce cognitive load for a man who must consciously compensate for what his eyes, ears and feet no longer report automatically. The illustrative schedule below shows how the day was organised. Times flexed around his work and family life; the sequence stayed steady.

8Recovery Timeline: The First Three Months

Adult Refsum disease is a long-term condition. Home care did not reverse it, and no stage of this timeline claims to. What the timeline documents is steadier: the slow conversion of a medical plan into a working household, and the quiet signs that safety was improving.

9Risks, Warning Signs and Emergency Readiness

Signs to report to the treating team promptly

Some changes are not immediate emergencies but still must reach the treating team quickly. The family was asked to report worsening balance, new weakness, reduced food intake or unexpected weight loss as soon as they were noticed, not at the next scheduled appointment. The full reasoning behind recognising deterioration early, including which signs deserve same-day action, is set out in this guide to emergency warning signs and response at home.

Why acting fast matters more than acting calmly

Cardiac arrhythmias in this condition do not always announce themselves. A person can look and feel stable and still be minutes away from a serious event. That is not a reason for fear; it is a reason for preparation. Families who understand the pattern of calling an ambulance too late prepare differently: numbers saved, documents ready, lifts and gate codes known, and no hesitation about calling when red flags appear.

The first minutes decide the outcome

In a cardiac emergency at home, the first ten minutes are mostly logistics: recognising the event, calling for help, unlocking the door, clearing the path to the patient, and carrying the right documents. The family rehearsed exactly this sequence, guided by an account of common first-30-minutes mistakes during home emergencies. Rehearsal sounds dramatic for a household, but it is the only way these steps survive panic.

Location is part of the clinical plan in Delhi NCR

Families across Delhi NCR, including those in Ghaziabad, live with the same reality: when a crisis starts at home, distance and traffic decide how quickly hospital care arrives. Roads such as the NH-24 (NH-9) corridor, Mohan Nagar and Vijay Nagar can slow an ambulance at exactly the wrong hour. That is why emergency readiness at home is a genuine clinical concern here, not a marketing point, as explained in this account of emergency readiness when traffic can delay an ambulance. For Raghavendra’s family in Gurgaon, the same logic applied: the nearest appropriate hospital, the fastest route and the exact documents were fixed on paper before they were ever needed.

One more preparedness step deserves mention. Although his plan did not include hospital-level equipment at home, the family asked what higher-acuity support would look like if his cardiac risk ever demanded it. Understanding what a home ICU setup involves helped them make an informed, unhurried decision for now, with a clear reference point for later.

10Care Goals

Goals make the plan testable. Each one below was reviewed at Month 3 against the Day 1 baseline, and each will keep being reviewed as long as care continues.

11Family Education and Caregiver Support

Raghavendra’s family was advised that dietary management is a central part of adult Refsum disease care. They were encouraged to follow a dietitian-approved food plan and to avoid fasting or rapid weight-loss practices, however healthy those sound in ordinary life. They were also guided to monitor changes in vision, hearing, balance and cardiac symptoms, and to bring those observations to the treating team rather than managing quietly at home.

Teaching did not stop at instructions. The family practised each habit until it was natural: how to guide a person with low vision through an unfamiliar room, how to run one conversation at a time, how to read the meal record for drift, and how to answer a new symptom calmly. Every teaching point was confirmed by asking the family to explain it back in their own words. Understanding, not obedience, was the goal, because a plan survives only when the people living inside it believe in its logic.

One education point deserves its own paragraph, because it affects thousands of households. Families across Delhi NCR, including in Ghaziabad, often fill care roles with untrained domestic help arranged through local bureaus. The arrangement looks economical, and it hides a clinical problem: a helper who cannot observe, record, report and escalate is not a safety layer for a condition like this one. The pattern and its costs are documented honestly in this analysis of why cheap untrained home help costs families dearly.

There is a related truth that clinicians see repeatedly: attendance is not the same as care. A person can be present in the home all day and deterioration can still proceed unnoticed, because nobody is watching for the right things. Families who assume that “someone at home” equals “someone is monitoring” may find this account of why patients can decline despite seemingly good care at home sobering and useful. The clinical difference is oversight, and oversight is a trained skill.

Finally, the care team looked after the caregivers themselves. The family was encouraged to keep their own routines, share responsibilities rather than loading one member, and speak up when the load felt heavy. Long-term caregiving for a progressive condition is a marathon, and the plan only works if the people carrying it stay well enough to carry it.

12Follow-Up and Outcome

Illustrative follow-up

At a documented follow-up, Raghavendra’s family reported that maintaining a meal record and improving home lighting had made daily activities noticeably easier to organise. The day ran with fewer decisions and fewer surprises, which for a household managing a rare metabolic condition is a genuine clinical result, not a cosmetic one.

His specialist team continued monitoring his metabolic status, vision, hearing and cardiac health. Nothing in the follow-up suggested a reversal of the disease, and none was claimed. What the follow-up showed was stability: a plan being lived correctly, a family able to report accurately, and specialists receiving better information than they had before home care began.

Recovery outcome

Mobility

Raghavendra walked familiar routes with more confidence, supported by corrected lighting, clear pathways, his prescribed mobility aid and physiotherapy. The ataxia itself was not cured; it did not need to be hidden either. The goal was safer movement inside the reality of the condition, and that goal was met on the routes he uses every day.

Pain

Pain was not a documented problem in this case. Some people with peripheral neuropathy develop burning, tingling or uncomfortable sensations in the feet; such complaints were not reported in the records shared for this publication. The care team continued to watch for them as part of routine observation, since neuropathic symptoms can emerge over time.

Nutrition

The meal record stayed consistent across the three documented months. Meals followed the dietitian-approved plan, calorie intake remained adequate as directed, and no fasting episodes or sudden weight changes were reported. For a condition in which the diet is treatment, this steady adherence is the single most meaningful outcome recorded here.

Medical stability

No cardiac emergency occurred during the documented care period. Scheduled specialist follow-ups were maintained across eye, hearing, neurological and cardiac reviews, and any new instructions were written into the home plan the same day. Stability, in this context, is not an absence of disease. It is the presence of working systems around a disease that continues.

Family feedback

The family’s own words at follow-up centred on two things: the meal record and the lighting. Both are small, cheap, unglamorous changes, and both changed daily life. Their confidence in recognising warning signs had also grown, which means the household now carried a second layer of trained observation.

Remaining challenges

Adult Refsum disease remains. Vision and hearing will need continued specialist attention, travel still requires planning and support, and the diet remains a lifelong discipline rather than a phase. The family continues to monitor cardiac symptoms with the seriousness the condition deserves. None of these challenges were made to disappear by a three-month care period, and honesty about that is part of the clinical record.

Long-term care

Care continues on the same structure: specialist reviews on schedule, the diet held steady, the home environment maintained, and the family’s observation skills kept current through professional home nursing care visits that keep a clinical eye on the household routine. The plan will be revised as his specialists advise, and the records built in these first three months give every future revision a clear starting point.

13Key Clinical Learnings

Every case teaches something that the next household can use. These are the learnings this case study exists to carry forward.

1. Adult Refsum disease causes phytanic acid accumulation. Once the chemistry is understood, every instruction in the plan stops looking arbitrary and starts looking obvious.
2. Dietary management is an important part of treatment, not a supporting habit. It is the one intervention that acts on the underlying metabolic problem itself.
3. Vision, hearing, balance and peripheral nerve function may all be affected. The combination, more than any single symptom, is what shapes day-to-day risk and daily design.
4. Cardiac complications require appropriate specialist monitoring, even when the person feels completely well. Silence is not evidence of safety in this condition.
5. Protecting regular meals and steady weight is protective care. Rapid weight loss releases stored phytanic acid into the blood, so fasting and crash diets are clinical risks, not lifestyle options.
6. Environmental design is treatment. Consistent lighting, fixed belongings, high-contrast labels and clear pathways replace the warnings that damaged senses no longer send.
7. Written records turn daily care into clinical evidence. A meal record and an appointment diary made every specialist review sharper, shorter and better informed.
8. A rare diagnosis needs one coordinating layer at home, so advice from several specialists becomes a single workable routine instead of a folder of instructions.

14Medical Authority and Review

About the Author

Dr. Ekta Fageriya, MBBS

• RMC Registration No. 44780
• Specialization: Geriatric Medicine
• Clinical Experience: 7 Years

Dr. Ekta Fageriya authors and reviews AtHomeCare’s clinical case studies, with a focus on home-based care for adults living with complex and long-term health conditions.

15Supporting Clinical Documents

The documents below informed this case study. Original reports remain with the family, and identifying details are withheld to protect confidential patient information. Where a value or detail was not documented for this publication, the gap is stated openly rather than filled.

Care records kept at home

No laboratory numbers appear in this case study because the numeric values were not documented in the material shared for publication. Describing care honestly includes describing what was not recorded.

16Frequently Asked Questions

17Contact AtHomeCare

For coordinated home care planning across Delhi NCR, including Gurgaon, Ghaziabad and neighbouring cities, reach the AtHomeCare team directly.

18Medical Disclaimer