Welcome back to The Lifestyle Prescription—Pharmacy Planet’s podcast series where real stories meet real wellbeing.
In this deeply moving episode, host Rena Annobil sits down with Paven Kaur, a businesswoman, mother, and caregiver to her 15-year-old daughter Amber, who lives with Prune 1 Syndrome, a rare genetic neurological disorder.
Through honesty and vulnerability, Paven opens up about early signs during pregnancy, the long path to diagnosis, becoming a “medical mummy,” navigating cultural stigma, and finding strength, joy, and community in the hardest moments. Her story is one of extraordinary perseverance and unconditional love.
Prune 1 Syndrome is an extremely rare neurological genetic disorder affecting muscle tone, movement, mobility, vision, and communication. When Amber was diagnosed, there were only a handful of known cases worldwide, and research remains very limited today.
Despite her challenges, Amber understands everything around her. As Paven shares, “She’ll smile or look at what she wants… she knows exactly what’s happening.”
Although Amber’s birth and pregnancy were healthy, things changed around the three-month mark, when Paven noticed Amber wasn’t meeting key developmental milestones.
Despite repeatedly voicing concerns to doctors, Paven was dismissed for nearly a year. It took 10.5 years to finally receive the correct diagnosis — a timeline that many families of rare disease children know far too well.
This episode highlights the importance of believing parents — especially mothers — when they sense something is not right.
Amber is completely non-verbal, but not silent.
Through body language, eye gaze technology, visual communication books, and muscle-based cues, she expresses discomfort, preferences, or excitement.
Yet as she grows older, muscle weakening and declining eyesight make expression harder — a painful reality for any parent to witness.
Becoming a “medical mummy,” as Paven describes, required giving up a career and navigating intense physical and emotional demands.
The conversation shines a light on the mental load, advocacy burden, and identity shift that caregivers of medically complex children carry.
One of the most powerful segments explores how South Asian communities often respond to disability.
Her story is a call for compassion, inclusivity, and cultural change.
Amber’s complex needs placed tremendous strain on the marriage, ultimately leading to divorce. When Amber nearly died from COVID and required emergency care, her father walked away from both Paven and Amber — emotionally, financially, and physically.
With time, family support, and inner strength, Paven rebuilt her life and later found love again with a partner whose family welcomed Amber wholeheartedly — offering hope for anyone starting over.
Amber receives nutrition through PEG feeding, a gastrostomy system that safely delivers food and medication directly into the stomach.
Her daily routine balances medical complexity with dignity, independence, and comfort.
Despite limitations, Paven is committed to giving Amber a life filled with experiences:
With hoists arranged abroad, portable medical equipment, and trained carers, Paven turns “impossible” into “we did it.”
These joyful moments — a Tesco trip, a sensory activity, or a flight abroad — are reminders that disability does not erase childhood.
“You just need someone to pick you back up — even if you’re the one fighting the battle.”
Her experience also shows that although the UK offers support, families often reach breaking point before help is provided.
Most importantly, she encourages strangers, friends, and communities to be more inclusive and less assumptive:
“What you see does not define that person. Try stepping into their world.”
Today, my guest is going to help us understand what that really looks like. She’s also here to share her experience caring for her daughter, who lives with a rare neurological genetic disorder called Prune One syndrome.
If you’ve just tuned in, this is Lifestyle Prescription. I’m your host, Rena Annobil, and I’m joined today by businesswoman, makeup artist, and mother Paven Kaur. Paven, thank you so much for being here.
Speaker 1 — Paven
Of course. My daughter, Amber, is 15 years old. She has a very rare neurological genetic disorder called Prune One syndrome. It’s a relatively new condition, and there’s very little research available on it even now. When she was diagnosed five years ago, there was even less information than there is today.
Because the condition affects the central part of her brain, it presents similarly to quadriplegic cerebral palsy. All four of her limbs are affected. She’s PEG-fed, she’s short-sighted, and she has significant cognitive and motor delays. Medically, she’s a very complex child.
Speaker 2 — Rena
When you were pregnant or shortly after giving birth, were there any signs that something might be wrong? When did you realise things weren’t as they should be?
Speaker 1 — Paven
My pregnancy was smooth and normal. I carried her to 37 weeks. Labour was uncomplicated. When she was born, she looked perfect. She cried normally, fed normally — everything appeared exactly as you’d expect with a healthy newborn.
But around three months, I started to sense something wasn’t right. She wasn’t fixing and following with her eyes. She wasn’t trying to lift her head. All the little developmental milestones that should have started appearing just… weren’t.
I raised it with my GP multiple times — at three, six, and nine months — but I was repeatedly told, “She’s just slightly delayed, give her time.” That mother’s instinct, though, was loud. Something felt wrong.
It wasn’t until just before her first birthday that we finally saw a paediatric consultant. And in one conversation, she said, “There is something wrong with your child. If you’re planning more children, I wouldn’t. Your daughter will have long-term disabilities.”
Hearing that was completely life-changing.
Speaker 2 — Rena
That must have been so painful, especially after months of being dismissed.
Speaker 1 — Paven
It was. I was 26. I had just had my first baby. I was living in a large extended family, trying to juggle responsibilities, and I was going through my own postnatal emotions. At the same time, I was trying to advocate for my daughter when something was clearly wrong, yet no one was really listening.
It was overwhelming and isolating.
SECTION 2 — Diagnosis & Medical Journey
Speaker 2 — Rena
So after that initial consultation, when did you finally receive a clear diagnosis? Because Prune One syndrome is extremely rare — there isn’t much information online even now.
Speaker 1 — Paven
That’s right. And this might surprise people, but Amber wasn’t diagnosed with Prune One syndrome until she was ten and a half years old.
For more than a decade, she was simply labelled “developmentally delayed.” That label is so broad it almost tells you nothing. I always knew there was something more specific going on, and I kept pushing for answers — test after test, referral after referral — but everything kept coming back inconclusive.
It wasn’t until we pushed for genetic testing that we finally got an answer. The results showed she had Prune One syndrome — a condition so new and so rare that even her consultants didn’t have much information. They told me:
“We don’t know much about this yet. We’ll have to treat her as though she has cerebral palsy, because her symptoms overlap significantly.”
It was both a relief and a shock. Relief because we finally had a name. Heartbreak because of what it meant.
Speaker 2 — Rena
Given the rarity of the condition, how do her symptoms affect her day-to-day abilities?
Speaker 1 — Paven
The condition affects the central part of her brain — the area responsible for movement, speech, coordination, and even vision.
For Amber, that means:
All four limbs are impacted
She’s completely non-verbal
She’s PEG-fed
Her eyesight is significantly impaired
She has severe cognitive and motor delays
But — and this is really important — she absolutely understands.
If you ask her, “Do you want to go outside?” she’ll smile. If she’s uncomfortable, she’ll tense her body or shift a certain way. She is fully aware of her surroundings. She just can’t verbalise her needs or move her body in the way she wants.
Speaker 2 — Rena
How do you recognise what she wants or what she’s trying to communicate?
Speaker 1 — Paven
Through body language — and a lot of intuition.
She has very distinct cues:
If she’s uncomfortable, she tenses up
If she’s unhappy, she’ll pull her arms back
If she’s excited, she’ll wiggle or smile
If she needs something, she’ll look directly at me in a very particular way
Over time, you learn your child’s language, even when it isn’t verbal.
She also uses a communication book with symbols and pictures, and an eye-gaze device, which is amazing. She looks at an icon — like “I’m hungry” or “I want a drink” — and the device speaks for her.
But as she’s getting older, her muscle tone is weakening and her eyesight is deteriorating, so expressing herself is becoming harder. That’s one of the heartbreaking parts — watching her lose some of the abilities she once worked so hard to gain.
Speaker 2 — Rena
That must be incredibly frustrating for her.
Speaker 1 — Paven
It is. And she’s aware of it — we can see it in her face. Our role is to support her through that, to reassure her constantly that she’s safe, she’s loved, and we’re right there with her.
SECTION 3 — Marriage, Divorce & Support System
Speaker 2 — Rena
You mentioned earlier that you’re now divorced. Raising any child is demanding, but raising a child with complex medical needs adds layers of difficulty that many people can’t imagine. Did Amber’s condition affect your marriage?
Speaker 1 — Paven
Yes, it did — significantly.
Her father really struggled to accept that he had a child with special needs. I think it was emotionally overwhelming for him, and instead of facing it, he withdrew. He spiralled in various ways, and ultimately he couldn’t cope with the life we had.
Relationships break down — that part happens. What was more painful for me was that he didn’t just walk away from me. He walked away from her. He disconnected emotionally and financially from a child who needed him more than anyone. That’s something I will never fully understand.
Speaker 2 — Rena
How long ago did that happen?
Speaker 1 — Paven
Five years ago. And the timing made it even harder.
Amber was in hospital with COVID, and the doctors told me she had 48 hours. I reached out to him — of course I did. His response was, “I don’t believe you. I don’t think she’s sick.”
That moment stays with me. It was as though the floor dropped away beneath me. From that day forward, it was just Amber and me.
Speaker 2 — Rena
I can’t imagine going through a medical crisis and a personal crisis simultaneously. How did you cope?
Speaker 1 — Paven
If I’m honest, at first I didn’t.
I was in shock. I could barely get out of bed. I was dealing with the possibility of losing my child, going through a divorce, facing the reality of being a single mother to a medically complex child, and realising that the life I thought I had was completely different to what it seemed.
But I had to survive — for her.
That meant switching from emotional mode to survival mode. I told myself, “If I fall apart, she suffers. I don’t have that option.”
So I focused on what I could control:
Keeping a roof over her head
Securing funding and support
Making sure she had the care she needed
Protecting her emotionally and physically
I had to put my emotions to one side just to get through that period.
Speaker 2 — Rena
What support did you have around you?
Speaker 1 — Paven
My family were my lifeline — my mum, my brothers, my grandfather, my uncle. They surrounded me and held me up emotionally, financially, practically.
And it wasn’t just family. Amber’s:
medical team
district nurses
consultants
carers
local authority
school
All stepped up. It often felt like I was co-parenting with a village of professionals, and I mean that in the best way. I didn’t feel completely alone in caring for her, even though the responsibility was ultimately mine.
Speaker 2 — Rena
That’s powerful — and not the experience everyone has. Many parents of disabled children say they feel abandoned by services. How did you secure the level of support you have now?
Speaker 1 — Paven
By fighting for it — relentlessly.
When I was married, we received four hours of respite a month. That’s one hour a week. It was nowhere near enough.
After her father left and I became a single parent to a child who requires double-handed support at all times, Amber’s situation was reassessed. We had a long, detailed assessment process — a 50-page document that took hours to go through.
Funding for her care comes from two places:
NHS (health) – to cover medical and clinical needs
Local authority (social care) – to cover personal care, respite and support
We had to bring those together to build a package that actually matched her needs.
It took five years of assessments, panels, appeals, and re-assessments. In that time, she had:
a double hip replacement
a 10-hour full spinal fusion, because the curve in her spine was compressing her lung and affecting her breathing
If we hadn’t intervened when we did, she might not be here today.
Advocating for her to that degree has been exhausting. But she’s worth every bit of the fight.
SECTION 4 — Daily Life, Care, Feeding, School & Routines
Speaker 2 — Rena
Let’s talk about your day-to-day life with Amber. What does a typical day look like for the two of you?
Speaker 1 — Paven
Our days can look very different, depending on how she’s doing. On a good day, she wakes up, we get her ready, she goes to school, and the routine feels fairly predictable. On a bad day, she might need to be blue-lighted to hospital because her oxygen levels have dropped or her heart rate is high.
On a typical day, though, it goes something like this:
I wake up early — usually around 6 or 6:30 — to prepare her feeds, medications, syringes and equipment. Amber is PEG-fed, so everything she eats or drinks goes through a gastrostomy button in her stomach.
Speaker 2 — Rena
For people who might not know, can you explain what PEG feeding involves?
Speaker 1 — Paven
Of course. PEG feeding means she has a gastrostomy button in her stomach. I connect a feeding tube to it, fill syringes with blended food, water or medication, and feed directly into her stomach.
She can’t eat safely by mouth because she has no muscular control in her throat. Food would go down the wrong way into her lungs, causing aspiration and chest infections. That’s why she had to have the operation — oral feeding just wasn’t safe anymore.
To someone who hasn’t seen it before, PEG feeding can look quite intense. But for us, it’s been life-changing. It means she’s nourished, hydrated and medicated without the trauma and danger of oral feeding. It also means we can carefully control her nutrition, which is important because she’s non-mobile and can’t just “burn off” extra calories like we can.
Speaker 2 — Rena
And after you’ve done the morning routine, she goes to school?
Speaker 1 — Paven
Yes. She attends an amazing special needs school called Addington School. They’ve been incredible.
Every child there has disabilities or additional needs. The staff are all highly trained in medical support, including gastrostomy feeding and suctioning. Her class has about five or six students, so it’s almost one-to-one care.
She has:
hydrotherapy
physiotherapy
sensory-based learning
music (where she loves to flirt with her teachers!)
adapted PE
They focus on what she can do, rather than what she can’t. She’s been there since she was four and will stay until she’s nineteen. It has made a huge difference to her life — and to mine.
Speaker 2 — Rena
What does the afternoon and evening look like once she’s back from school?
Speaker 1 — Paven
After I pick her up, carers arrive around 4pm. They help with:
bathing and showering
personal care
getting her into fresh clothes
repositioning and transfers
While they’re doing that, I prepare her dinner, sanitise her equipment, sort her school bag for the next day, lay out her uniform, and prep all of her feeds and medicines.
She then has a calming sensory bedtime routine — low lighting, soft music, sometimes essential oils like lavender — and she’s usually asleep around 8 or 8:30pm.
Speaker 2 — Rena
And you also have overnight carers?
Speaker 1 — Paven
Yes, and that support is absolutely crucial.
Amber requires oxygen monitoring overnight. She can’t adjust herself, turn over, or fix her oxygen mask if it slips. She also can’t clear her own secretions, so she needs suctioning to stop them building up and causing chest infections.
We have an overnight carer from 10pm to 8:30am every night. That’s the only reason I’m able to sleep, work, function, and show up for her during the day.
SECTION 5 — Joy, Travel, Future, Advocacy & Closing
Speaker 2 — Rena
With everything you’ve described — the medical needs, the routines, the emotional and physical demands — I imagine it can feel overwhelming. How do you create moments of joy for yourself and for Amber?
Speaker 1 — Paven
Joy is essential for us, and it often comes from the simplest things.
Amber absolutely loves a Tesco trip. We make it an event. I’ll say, “We’re going shopping today — what outfit are you wearing?” and she’ll get excited. Those little rituals matter.
But we also create joy in bigger ways. I refuse to let her world be limited to hospital rooms and appointments. Yes, she’s in a wheelchair and she’s medically complex, but she still deserves experiences, memories, and adventures.
So we travel — quite a lot.
In the last few years I’ve taken her to:
Milan
Vienna Christmas markets
Dubai
Turkey
Kenya
Paris
People are often shocked that I manage it, but with planning, it’s absolutely possible. I take carers with us. We travel with her suction machine, feeding equipment, emergency supplies. At the destination we arrange:
a hoist for the hotel room
a hospital-style bed with side rails
wheelchair-accessible transport
any extra medical support that might be needed
It’s a lot of organisation, but she absolutely thrives when we travel. Her school can see the difference when she comes back — she’s brighter, more engaged, happier.
Speaker 2 — Rena
How does she respond to travelling — the planes, the new environments, the crowds?
Speaker 1 — Paven
She loves it. She’s calm on planes and interested in what’s going on. In new cities, her face lights up. At Christmas markets, she’s fascinated by all the lights and sounds.
Travel takes her out of that constant medical environment where everything is clinical and scheduled. On holiday, she gets to just be Amber, having experiences that many teenagers have — in her own way.
Speaker 2 — Rena
You mentioned earlier that Amber’s condition affects her life expectancy. Would you feel comfortable talking about that?
Speaker 1 — Paven
Yes. It’s a hard part of our reality, but it’s important to acknowledge it.
Amber had a 50% chance of reaching her 13th birthday. She’s now 15. Every birthday feels like a miracle.
The doctors haven’t given me a specific age, but they’ve told me realistically she has a very slim chance of reaching 21. Her health is slowly declining — her muscles are weaker, her eyesight is deteriorating, her respiratory issues are more frequent.
So my focus now is firmly on quality of life, not quantity. I want whatever years she has left to be full of joy, peace, love, travel, family, and comfort.
Speaker 2 — Rena
Do you think society understands what it’s like to parent a child with significant additional needs?
Speaker 1 — Paven
Honestly, no.
Unless you’re living it — or extremely close to someone who is — you don’t truly understand. People might see a wheelchair, a feeding tube, or a child who doesn’t speak, but they don’t see:
the 24/7 vigilance
the hospital admissions
the fear and grief
the love and pride
the advocacy and battles for support
There is beauty and deep love in this journey. But the emotional and physical load is huge, and most of it is invisible to the outside world.
Speaker 2 — Rena
And yet your story also includes love and acceptance — from your partner and his family. You said they’ve embraced you and Amber in a special way.
Speaker 1 — Paven
Yes, and I feel incredibly grateful for that.
My partner and his family came into our lives like a blessing. They accepted not just me, but Amber — completely and unconditionally.
In our culture, a divorced woman with a medically complex child is often judged. But his parents, who are in their seventies, welcomed us. They even asked what changes they needed to make to their home to make Amber comfortable.
That level of acceptance restored my faith in love, community and what’s possible for families like ours.
Speaker 2 — Rena
Is that part of why you choose to share your journey so openly?
Speaker 1 — Paven
Definitely. When Amber was younger, there weren’t many people — especially from our community — talking openly about raising disabled children. I felt very alone.
Writing became my therapy. Putting my feelings into words helped me process things. Then other parents started reaching out, saying, “We’re going through the same thing,” or “Your post made me feel seen,” and I realised there was real power in sharing.
My inbox is full of parents who are scared, overwhelmed, and looking for someone who understands. If our story helps even one of them feel less alone, it’s worth it.
Speaker 2 — Rena
If someone listening today meets a mother like you or a child like Amber, what would you want them to know?
Speaker 1 — Paven
I’d want them to know that what you see on the outside is not the whole story.
That child isn’t just “a wheelchair” or “a feeding tube” or “a diagnosis.” They’re a whole person — with a personality, opinions, humour, likes and dislikes.
I’d love people to think more intentionally about inclusivity. Instead of expecting disabled people to “fit” into our world, ask: “How can we adapt this space or experience to make it accessible for them?”
Small acts of understanding and inclusion can make a huge difference.
Speaker 2 — Rena
And for parents who feel isolated right now, who might be going through something similar — where can they find support?
Speaker 1 — Paven
First, I’d say: reach out to your local authority and ask for a social worker. I know not all councils are brilliant, but that’s often where practical support starts.
Secondly, I can’t say enough good things about children’s hospices. For us, Alexander Divine Children’s Hospice became a huge source of emotional and practical support when Amber was approaching end-of-life. They truly understand the world we live in.
You are not alone. There is help out there. And there is still so much love and beauty to be found in your journey.
Speaker 2 — Rena
Paven, thank you for being so open, vulnerable and powerful in sharing your experience. Your story will resonate with so many people.
Speaker 1 — Paven
Thank you for having me, Rena. I hope our story helps others feel seen, supported, and hopeful.
Speaker 2 — Rena
And thank you to everyone watching or listening. If this conversation moved you or taught you something new, please like, share, and support the podcast. Until next time — take care.
