Charlotte's experience as a Carer

As part of Carers Week, Charlotte Stockman speaks about her experience as a parent and carer, supporting her child who has Prader Willi Syndrome and Autism.

My daughter, Ella was diagnosed with Prader Willi Syndrome in 2004 at 10 weeks old, Autism in 2023 and Severe Learning difficulties in 2022 (this was always there but had never been an official diagnosis).  I would like to share with you a bit of our journey as a Carer and a full time working parent. 

Life with Ella

My daughter, Ella was diagnosed with Prader Willi Syndrome in 2004 at 10 weeks old, Autism in 2023 and Severe Learning difficulties in 2022 (this was always there but had never been an official diagnosis). I would like to share with you a bit of our journey as a Carer and a full time working parent. Ella is now 20 years old, we have had a number of bumps along the journey throughout childhood and then transitioning over to adult care at 18. I was 18 when Ella was born so my whole adult life has been spent as her parent and carer. The diagnosis she received is absolutely terrifying for anyone but to receive that when barely an adult myself has definitely shaped who I have become as a adult.

Ella was born in the Spring of 2004, and straight away it was noticed that something was not quite right. She was very cold and was like what can only be described as rag doll. She was whisked away by the midwives to a warming bed, telling me she was likely just tired from the long labour. Over the next few days there was a lot of comments ‘failure to thrive’ and many doctors being shipped over from the main hospital to check her over. She wasn’t able to feed, an NG tube was put in so she could be fed. However, on day 5 a doctor deemed she was just a tired baby and sent us home. For the next 6 weeks we had countless battles to get any support, she still couldn’t feed and was rapidly losing weight. At 6 weeks old we took her to a large hospital where she was admitted and put straight into intensive care. This was where our journey really started, she had genetic blood tests done which came back 6 weeks later (this was 20 years ago its faster now) confirming that she had Prader Willi Syndrome. As with most people reading this I had absolutely no idea what this meant, the hospital were very doom and gloom and provided me with some internet print outs which I now know were all dated studies based on adults with PWS that had never had early diagnosis, support or intervention.

So, what is Prader Willi Syndrome - Prader-Willi syndrome (PWS) is a rare, complex genetic disorder that affects both males and females from birth and throughout their lives. It causes low muscle tone with consequent motor developmental delays, a mild to moderate learning difficulty, incomplete sexual development, and emotional and social immaturity, which can lead to challenging behaviours. During childhood, an overwhelming and insatiable chronic appetite usually develops which, without rigorous food management and exercise regimes, leads to food seeking, stealing and life threatening obesity. PWS occurs randomly in about 1:22,000 births and it is estimated that there are about 2,000 living with PWS in the UK. Our journey from diagnosis has led us down years of Physiotherapy, Speech and Language, Paediatric support, Endocrine support and many more people supporting us.

Impact on life

The last 20 years has definitely been a journey but its not all been bad. Ella has grown into an amazing young lady and I am so proud to watch her grow and hit milestones. She has also taught me a lot along the way. Ella can pretty much tick the list of PWS characteristics, she has them all. She has always been developmentally behind. She walked at age 2, she didn’t speak till age 5 as examples. Her muscle tone is poor, so she has difficulty with balance and coordination. She also uses a wheelchair as she tires quickly. She additionally has scoliosis which is at present stable but now means her movement is further restricted. She has the insatiable appetite; my kitchen is like fort knox keypad code entry is a must with the door remaining locked majority of the time. She has been known to eat from bins and other sources to try and stem the hunger. Her behaviour is challenging but we have found routes to manage that with understanding her autism needs better. Then there is the learning difficulties throughout school Ella appeared to learn so this wasn’t immediately obvious to people meeting her. She had cognitive assessment as part of the move to adult care which clarified what I had said for years. She appears to learn but actually has zero understanding of what she has learnt. Her assessment came out with her in the bottom 2 percent of the country for cognitive achievement.

Ella went to a special need’s nursery and then into mainstream school. She unfortunately due to the learning difficulties has always struggled to keep up with her peers and found friendships very difficult to make. When we reached secondary school age it was very clear that she wouldn’t cope in a mainstream secondary, so the decision was made for her to attend a specialist school with support in place.This is when Ella really started to thrive and within the first term, we would see that we had made the best decision for her. She was making friends; she was learning, and she just had a permanent smile on her face.

She was due to leave school the summer of the first lockdown, this for us turned into a complete nightmare. Ellas’s world is planning and routine and she just couldn’t cope. In her head she had GCSE exams to sit, PROM to enjoy, that final term of school with the close friends that she had made over the 5 years previous, and she just spiralled behaviour wise. What did we do we fell back to Ella and her obsessive behaviours (they can work in your favour) we got some books and she learnt to sew and then to crochet. Now we can pretty much ask her to make anything give her the instructions and off she goes. Her sewing is now her escape, the backpack of supplies goes everywhere with us. She started in college in the September, the first year was great she was in a supported unit within the college, and it worked well. However, the second year she really struggled she just wasn’t happy and was crying all the time, at this point she was 17 and didn’t have to be in college post 18 so we started to research what options we had for adult support and care. She could have stayed in college till 25 with an EHCP but it just wasn’t right for her.

This brings us to now Ella still lives at home and will likely for quite a few years to come. We are on the waiting list for supported living but the resources in the local area for this are low.  There are more shared homes, but she needs her own space and quiet, we are looking at her own flat within a warden assisted site with carers then coming in to support her with daily activities like making meals. As I work full time we had to get some care provision in place. Ella does 2 days a week with a day service, they go all over the place doing activities like cinema, boat trips, I guess just general fun activities. She also does 2 days a week as part of a program called right to work. This is an amazing charity service in the Havant area. She is based at Staunton Country Park in storey gardens, they spend those days gardening and growing lots of flowers and vegetables which they then sell in the shops at the country park, Storey gardens is a lovely stroll if you are ever at Staunton on a weekday, its very peaceful. Then on the 5th workday we have a lady that comes in for a few days and takes Ella out to get her shopping (normally more wool) she is also teaching her life skills like how to get the bus and other activities she will need to do as we build her independence.

Support and Resources

From a carer perspective, outside of the support hours we have in place so that I can work full time Ella is with me and I am there to provide her support.  Day to day this includes everything including helping her shower, although we are teaching her all the time to help build independence, mobility unfortunately makes some skills a challenge though. We go swimming 3 times a week to try and just keep her active as well. We spend a lot of time building a home and environment that works for her, she needs quiet and space to just be on her own (within reason). We still have lots of appointment all the time, we are under a fantastic learning disability team who support us with all the Physio, Speech, autism support, learning difficulty resources, then the annual health reviews. We also have the spinal reviews ongoing to ensure the Scoliosis remains stable.

I have worked for SSE for 12 years now, and the support I have had through some of the bigger challenges has been amazing. When I have needed time to attend appointments it’s never been an issue to just book the time out to attend. Having a supportive line manager that you can be open with is really key to being a carer. I will be a carer for many years to come as Ella will never be fully independent, so this won’t go away. I also have a 17-year-old with ADHD so between the 2 support from work is very much needed at times. When Ella was around 5, I started to get involved in the carers network for other families supporting young people with PWS. We also found the charity Foundation for Prader Willi Research UK. I have stepped down from charity director a few years back but am still heavily involved in supporting other families with the challenges that having PWS brings. We really enjoy our big get togethers which give us a good chance to let our hair down and get a listening ear from someone that understands what you are going through. If you are dealing with any diagnosis, I would always recommend reaching out to the support networks or charities.  The first 5 years were very lonely and honestly quite scary but bringing other families into our lives really opened things up for us.

Looking to the future with Ella we are really focused on building her levels of independence. We want her to be able to live in her own home with support and that’s what she also wants. She also wants to continue with her right to work program at Staunton. You never know we may be able to get her a small job in a garden centre or similar in years to come, that’s a long way off though. For now, life with Ella is stable and as long as nothing changes with her support we will continue to plod along with her smiling.

My only other piece of real advice which is important is to ask for help, being a carer is not easy and at times it can be an overwhelming struggle as well as very lonely. If you are finding it difficult, please ask for help, colleagues around me have watched me crumble over the years and you know what that’s ok and completely normal. I remember a day arriving at Penner Road and standing in the kitchen area crying because I couldn’t find a coat hanger to hang my wet coat on, that was my unravelling, but colleagues were there to listen, support and find me a coat hanger. If you want to know more about PWS, transition to adult care (this wasn’t easy) or the autism side of our journey please reach out I am always happy to share. My biggest tip with the autism is find their love though, in Ella’s world this was the crochet and sewing discovery this has made life easier. As long as she has her bag and somewhere to sit, we can pretty much go anywhere now. Some resources of support or if you fancy just reading a bit more about PWS. 

External links: 

• Foundation for Prader Willi Research – We can and together we will (fpwr.org.uk)
• PWSA UK | Support for those living with Prader-Willi Syndrome
• Work Opportunities for People with Learning Disabilities | TRTW (therighttowork.co.uk) – If anyone fancies a community day they always have jobs that need to be done.