Section 01

Patient Background

Rishaan Walia is a 26-year-old man from Ludhiana, Punjab. He lives with Rubinstein-Taybi syndrome, a rare genetic condition that affects development, growth, learning and physical features. Common features include short stature, distinctive facial features and broad thumbs and toes. No two people with the syndrome are affected in exactly the same way.

Rishaan has lived with developmental and learning difficulties since childhood. He speaks in short sentences and understands familiar instructions well. When a task is new, or has several steps, he needs extra time and calm reminders to work through it.

He moves around his home on his own. His balance and stamina are lower than average. He can lose balance when he changes direction quickly, so someone stays close by on stairs and outdoors. He eats by himself and manages basic grooming, but bathing, dressing and organising his belongings need help or reminders.

He does supported home-based vocational activities. His mother is his primary caregiver and his elder sister helps as the secondary caregiver. The family requested professional home healthcare services in Ludhiana to protect his independence, make his movement safer and share the daily workload.

Section 02

Clinical Diagnosis and Assessment

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome (RTS) is a genetic condition. In most people, it happens because of a change in a gene called CREBBP. In some people, a gene called EP300 is involved. These genes help control how other genes work during growth. A change in them affects many body systems at once, which is why the syndrome touches growth, learning, muscles, teeth, eyes and hearing.

In most cases, RTS appears for the first time in a family. It is not caused by anything the parents did before or during pregnancy. There is no cure, and care aims to support each person’s individual needs across their whole life.

Findings documented for this patient

Table 1. Associated conditions and functional findings on record

General assessment on entry to home care

• Alert and responsive throughout the day
• Communicates in simple sentences
• Follows familiar instructions reliably
• Mild generalised weakness
• Reduced balance, especially with quick direction changes
• Stable walking on level indoor surfaces
• Needs extra time for complex or unfamiliar tasks

What the care team monitors

The care plan is built around the specific needs that RTS creates for Rishaan. The team tracks developmental functioning, mobility and balance, joint flexibility, communication, vision and hearing, dental and nutritional needs, and his independence in daily activities. These seven areas guide every review.

Section 03

Medical History and Treatment Received

Rishaan needed medical assessments at different stages of childhood because of developmental delay and physical differences. His genetic condition was confirmed following specialist evaluation. During adulthood, his family continued periodic medical follow-up. These reviews covered general health, vision, hearing, dental health and functional abilities.

There was no recent prolonged hospital admission. He was medically stable at home when home care began. This case is therefore about long-term support, not recovery from surgery or intensive care.

Treatment approach: supportive, not curative

There is no single curative treatment for Rubinstein-Taybi syndrome. His care has always focused on managing individual health needs. This includes physiotherapy, occupational therapy, speech and communication support, vision and hearing follow-up, dental care, nutritional monitoring and regular medical reviews. Any medicines required for specific health problems are prescribed and monitored by his own doctors. The home team supports those routines. It does not change them.

Table 2. Healthcare evaluations on record and why each one matters

Section 04

Why Home Healthcare Was Needed

Rishaan did not need a hospital. He needed steady, skilled, everyday support. Six clinical reasons shaped the decision to arrange structured home care.

1. The need is lifelong, not an episode

RTS does not resolve. Support that arrives only during a crisis cannot maintain strength, routine or confidence. A planned programme keeps the same carers, the same methods and the same records month after month.

2. Movement carries real risk

His reduced balance, especially during quick turns, on stairs and outdoors, makes falls the single most important preventable harm. Supervised walking, home safety changes and family training all reduce that risk together.

3. Daily living support protects dignity

Help with bathing and dressing from a trained attendant is safer and more private than improvised help. A trained person knows how to assist without taking over, which keeps skills alive.

4. Consistency is itself a treatment

Rishaan performs better when every day follows the same order. A home care team can hold that structure in place even when family schedules change.

5. The family needed structured relief

After more than two decades of caregiving, his mother and sister carried a heavy load. Professional support shares the work and lowers the risk of caregiver stress and burnout, which protects both the family and the patient.

6. Specialist care stays on track

Vision, hearing, dental and medical reviews still matter. The home team keeps records, gives reminders and communicates changes back to the family and the treating doctors. If you are unsure when medical oversight at home becomes necessary, our guide explains when a family in Ludhiana needs a nurse at home.

Section 05

The Home Care Plan by AtHomeCare

The plan had one goal: help Rishaan remain as independent and safe as possible. Every service below was chosen because of a specific need identified during assessment, not as a general package.

Section 06

A Day in Rishaan’s Care

The daily plan follows the same shape every day. Familiar order, familiar words and familiar places reduce confusion and give him the best chance to do things himself.

Section 07

The 12-Week Care Timeline

• Week 1

  Assessment and making the home safer

  The team began with a baseline functional assessment: what Rishaan could do alone, what he could do with reminders, and what needed hands-on help. A home safety walkthrough checked grab bars, non-slip mats, handrails, lighting, footwear and clear walking paths. The visual routine chart went up in his room, and nursing care notes started so every visit builds on the last one. Family teaching began with the basics: short sentences, and give him time to answer.

  Why this first: you cannot plan safe care until you know the person’s true baseline and the risks inside the home.

• Weeks 2 to 3

  Building a steady routine

  The attendant established the same order of tasks every day: hygiene, dressing, breakfast, activities. Help was given the same way each time, with the same words, so tasks felt familiar. Rishaan was encouraged to start each step himself, and the attendant stepped in only when needed. The family practised using the chart and the same cueing style between visits.

  Why repetition first: adults with developmental difficulties function best when the day is predictable. Repetition turns a task into a habit.

• Week 4

  Rehabilitation moves to the centre

  Physiotherapy focused on balance, gentle strengthening, joint mobility and posture, always planned around his abilities. Walking practice happened on level indoor surfaces with someone nearby. Occupational therapy practice worked on dressing, grooming and organising belongings. Reviews with his doctors continued as needed so the home plan stayed aligned with his medical care.

  Why now: his strength, joint stiffness and balance were the main limits on independence. Exercise works on all three, but only if it is gentle, regular and safe.

• Weeks 6 to 8

  Endurance and real-world practice

  Supervised walks became a settled part of the afternoon and evening routine to build stamina. Stairs and outdoor trips stayed supervised. The team worked on safer ways to do both, not on removing supervision. Communication activities stayed small and daily: short sentences, simple choices, time to respond.

  Why this approach: endurance improves slowly with regular, low-risk activity. Safety rules stay strict while fitness improves.

• Week 12

  Documented review

  At the 12-week review, the documented results were: better participation in the daily routine, more consistency with simple grooming and dressing when visual reminders were used, slightly improved walking endurance with regular supervised exercise, and greater family confidence in managing daily activities. Balance outdoors and on stairs still needs close attention, and he still needs help with several complex activities. RTS is lifelong, so support continues.

Section 08

Clinical Evidence and Documented Findings

Table 3. Daily function at the start of home care

Table 4. 12-week goals and the documented outcome for each

Risks monitored through the programme

The family and care team watch a defined list of risks. Each one is checked in daily care notes and reviewed with the family.

Section 09

Medical Review and Authorship

Dr. Ekta Fageriya, MBBS

Author and Medical Reviewer

• Author: Dr. Ekta Fageriya, MBBS
• RMC Registration No.: 44780
• Specialization: Geriatric Medicine
• Clinical Experience: 7 Years

Section 10

Supporting Clinical Documents

This case summary draws on the following document types held by the family and the care team. Personal identifiers have been removed, and no confidential patient information is reproduced on this page.

• Genetic evaluation summary from specialist care (childhood diagnosis)
• Developmental assessment records
• Hearing and vision review notes
• Dental records
• Physiotherapy and occupational therapy assessment notes
• Home care notes and daily care records from the 12-week programme
• Medication records as prescribed by his treating doctors

Section 11

Clinical Outcome After 12 Weeks

Mobility

He continues to walk independently inside the house, with stable walking on level indoor surfaces. Endurance improved slightly with regular supervised exercise. Balance remains the priority, particularly outdoors and on stairs, where supervision continues.

Personal care and daily routine

Visual reminders made the biggest difference. With the routine chart and a consistent cueing style, grooming and dressing became more reliable. He still needs assistance for bathing, meal preparation and complex household activities, and that assistance is planned, not improvised.

Communication

Short sentences, simple choices and thinking time are now used by everyone in the home. Better participation in the daily routine is the clearest sign that this approach is working for him.

Medical stability

He remained medically stable throughout the programme, with no acute events recorded in this documentation. His medical, dental, vision and hearing reviews continue as advised by his doctors.

Family feedback

The family reported greater confidence in managing his daily activities. They also valued the companionship element of care, which companionship support at home provides alongside practical help.

Remaining challenges

• Balance on stairs and outdoors still needs close attention, and fall-prevention habits continue. Families managing similar risks can start with our complete guide to fall prevention.
• He continues to need assistance for several complex activities. RTS is a lifelong genetic condition, and this level of support is expected, not a failure of care.

Long-term care

Structured home support continues, with goals reset at reviews by his healthcare team. For families planning care that lasts years rather than weeks, it helps to see how integrated nursing and physiotherapy work together in long-term patient care.

Section 12

Key Clinical Learnings

Section 13

Frequently Asked Questions

Section 14

Related AtHomeCare Services

Each service used in this care plan is available across Ludhiana and the wider Delhi NCR region.

Section 15

Contact AtHomeCare