I am Mabel, and I have Williams Syndrome

On day 3 of the rare disease awareness initiative, I would like to introduce you to Mabel. Now, Mabel and I go way back. She was at nursery with my son Malakai. She was the happiest baby I have EVER met, and I thought Malakai was pretty smiley. So, Mabel and her family, have always had a special place in my heart, and I have had the privilege of watching her bloom into the young lady she now is, with all her wonderful achievements.

Mabel lives in the UK with her parents, younger sister, Flossie, and dog Dave. Mabel has Williams Syndrome (WS), a genetic condition seen in around one in 10,000 people. WS is caused by a tiny deletion of genetic material on chromosome 7 that occurs randomly, meaning it is usually not inherited. The genetic deletion results in a deficiency in one of the most abundant proteins in our body, elastin, that gives our tissues elasticity. WS is so rare that only one in 30 general practice physicians will ever see a patient with this condition.

Features of Williams syndrome

WS causes distinctive facial characteristics, typically with a wide mouth and widely spaced teeth, a pronounced bottom lip, an upturned nose with a flattened bridge, and high cheekbones. Clinical features are often present at birth and include congenital heart defects, such as a narrowing of the blood vessels around the heart (supravalvular aortic stenosis (SVAS)) or between the heart and lungs (peripheral pulmonary artery stenosis).

Around 15% of infants with WS have high blood levels of calcium (hypercalcaemia) that can inhibit growth and interfere with our kidneys, heart and brain. Individuals with WS may show mild-to-moderate learning difficulties, with a wide range and severity of developmental delay.

Mabel’s mum, Felicity, describes Mabel’s diagnosis journey and tells us what it means for them as a family living with WS.

A few days after Mabel was born, she contracted a pseudomonas infection in her eye, but after some treatment, we were allowed home. A few days later, her other became infected, and we went back to the hospital, where, during an examination, the doctor detected a heart murmur. We were referred to a paediatric cardiologist, who diagnosed Mabel with supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis. Following the loss of her older sister at 42 weeks, I received precautionary scans during my pregnancy with Mabel, which had not detected any anomalies.

As SVAS is so rare, the paediatric team suggested further investigation for specific syndromes. This was the first time we heard about WS. A FISH test (fluorescence in situ hybridisation) technique was used to analyse the genetic material in Mabel’s blood. We received the results when Mabel was five months old, confirming that Mabel had WS, just as she had her first heart operation. She had a second heart operation a few weeks later. We were also referred to a geneticist who explained the condition and how it happened randomly. Our journey for Mabel’s diagnosis was relatively quick due to her symptoms and the experience of the cardiologist. We have excellent hospitals close to us, with specialist units. The paediatricians involved in Mabel's care have all been amazing and have made appropriate referrals promptly.

Feeding was always an issue for Mabel; she didn’t tolerate feeds well. She had a nasogastric (NG) tube fitted for a year and then had a gastrostomy and Nissen fundoplication done at approximately 18 months to treat her severe reflux. Mabel still has feeding issues and is very selective in what she eats; hence, she is fed via gastrostomy. Constipation is a continuous problem for Mabel.

At around one year, Mabel was irritable, didn’t sleep, was constantly vomiting, constipated and failed to thrive; it was awful. I had researched WS and mentioned it to her paediatrician, who had initially said it was reflux, but after a blood test, they found that the cause was hypercalcemia. In some ways, this misdiagnosis has been a positive as it has prompted her paediatrician to double-check all symptoms against the WS medical guidelines and to be very thorough. The hypercalcemia resolved after a couple of years of treatment with special feeds and diet. She still has regular tests to monitor her calcium levels, and unfortunately, she has been left with deposits of calcium in her kidneys (nephrocalcinosis).

Mabel’s heart condition has stabilised since having her heart surgery, although she still has regular scans and monitoring in case she needs further intervention. She has a global development delay, but she is making progress. She took her first steps at six years old. As she has grown, we have had other issues to contend with, including her unstable kneecaps (patella), the curvature of the spine (scoliosis), anxiety and absence of seizures.

There is no cure for WS, but medications and procedures are available to make the symptoms manageable. Each WS person can be affected in different ways, so it is essential that a care plan is in place, and as the person grows, any complications that could be associated with WS are checked (e.g., diabetes, scoliosis, thyroid issues). Mabel also receives physiotherapy, hydrotherapy, and occupational therapy, and she relies on specialised equipment for her daily living. She attends a special school which has been excellent at supporting her, ensuring she has the best life possible and progresses with her education. 

I asked Felicity what advice she would give to another family recently diagnosed with WS or still struggling for answers. 

It is incredibly difficult when first diagnosed; you go through a grieving process for the child you thought you would have. But after this, you move on your journey and realise how amazing WS people are; they have the best personalities and outlook on life. Mabel is such a fun, happy, and caring little lady; everyone she meets wants to be her friend!

We’ve had a couple of occasions in the past at different hospitals where I felt that Mabel’s discomfort wasn’t taken seriously because she’s disabled, but I made my feelings known, and this was quickly resolved.  When children can’t express their feelings, we must be their advocates and ensure we are listened to. I’m a firm believer that mums know best! They are usually experts on their child’s condition, especially when it is a rare one that many medics have never heard of.

I would also say join the WSF, as they are the experts on the condition, and join groups on social media, too. If you have the opportunity to meet other WS people, take it! This will give you the best tools and knowledge to ensure your WS person is clinically well-managed and emotionally supported.  

What are the day-to-day challenges for you as a family?

Having a WS child affects us all significantly, but we have adapted to this, and now it is just part of life. From her personal care, feeds, medication, hospital appointments, physiotherapy, and managing her anxiety to going out, everything is centred on what Mabel needs.  I am Mabel’s primary carer now, as juggling a job and ensuring Mabel’s needs were met was proving difficult. As she has grown up, her needs have changed; she now needs even more support. We are lucky to be well supported by the NHS and social services. Mabel currently receives respite provisions. I do worry about the future, though, with the cutbacks being made to disability funding. Hopefully, things will have improved by the time Mabel moves into adult services. It does feel like we have to fight for everything.

What is the impact on Flossie, and what support is available to her?

Flossie adores Mabel, and the feelings are mutual, although Flossie does miss having a neurotypical sibling with whom she could play. She takes on a more caring role. We ensure Flossie has lots of fun opportunities individually and as a family. We are supported by Sebastian’s Action Trust (https://sebastiansactiontrust.org), which tailors support for siblings, parents, and children with special educational needs and disabilities (SEND). Flossie is also part of our local young carer’s association. Her school also offers counselling and emotional support. I would say Flossie has had to grow up quicker than her peers and learn to do things more independently. She does worry about Mabel, especially if she is poorly and has to go to the hospital.

We have spoken about Williams syndrome and what that means for Mabel and your family; now tell us about Mabel.

Mabel loves people (another feature of her condition), and she will always strike up conversations wherever she is. Most people love to talk to her, and even the more unlikely people will happily chat away. We occasionally get the odd person who will ignore her, but we think it’s their loss.  

I feel very blessed to have Mabel; she really is a joy to have and lightens up everyone she meets. She loves music and singing and gets so much joy from both. She has progressed so much during her time at secondary school, and her communication has come leaps and bounds. Her independence is growing too, and she loves going out with a carer to the cinema, bowling and even the pub! Mabel is a whizz on her iPad, and she amazes us with how she finds exactly what she wants. Usually Beyoncé!! She loves animals too and enjoys horse riding and visits to the farm. She makes us proud every day with her achievements, things like spelling her name out, recognising numbers, trying different foods, and even things like giving different activities a go, like going on a sailboat, watching panto or trying high ropes. Swimming used to be a definite no, but now she loves it. We get so much joy doing them with her. She’s also a rollercoaster lover!! 

What do you wish you knew at the beginning of your journey that you know now?

To be more aware of the medical complications of the syndrome and to know each person's journey is very different. We have met so many wonderful people, made friends for life, and had many fantastic opportunities and experiences because of her.

Words of wisdom

Acceptance is the most important thing; it should be taught at a young age so children know there is nothing to be scared of. Be open with children who may be curious to see a person in a wheelchair or being fed via a tube. Let them ask questions.  Read up on your child’s condition, as you may find the medics know very little about it, especially when it is such a rare one. Trust your instincts! Stay positive! 

References

The Williams Syndrome Foundation (WSF) (https://williams-syndrome.org.uk)

Unique, Understanding Rare Chromosome and Gene Disorders (https://rarechromo.org)

Sebastian’s Action Trust (https://sebastiansactiontrust.org)