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Writer's pictureKirsten

Diagosis of William's Syndrome: One Family's Journey [Part 2/2]

[**Trigger warning** Images of child post-open-heart-surgery]

Continued from Part 1... The appointment at Southampton was probably one of the worst experiences of my life; the consultant confirmed everything we had been told previously and that in his experience, he’d not seen a baby with Supra-Valvular Aortic Stenosis (SVAS) who didn’t have William's Syndrome (WS). This wasn’t the worse bit; he took us into a side room, explained everything to us and then said :

'well, he might walk, he might talk' and then off he went. He just left us.

I stared at Dan, he stared back at me. We didn’t know what to do. Once bloods had been taken for genetics we were sent home. In the car, I said to Dan that I never wanted to see the consultant again; Finn was 5 weeks old; I had raging hormones and had been told my son needed open heart surgery alongside (at this time, unconfirmed) a diagnosis of William's Syndrome and the consultant was so distant and cold.


'well, he might walk, he might talk' and then off he went. He just left us.

The next few days passed by in a blur, trying to stay positive, trying not to cry in front of Ella and also needing to explain what was going on to our families. Luckily, we have some amazing friends who are anaesthetists and one of them had previously worked at the Evelina London Children’s Hospital. They advised that if we could, we should try to see a Cardiologist there as it’s world-renowned for paediatric cardiac care. Following a few phone calls, we managed to move Finn’s care there and they were (and still are) amazing. We saw the Cardiologist, Finn then had a sedated CT scan and he had his first open heart surgery in August 2019 when he was 7 weeks old. We stayed at the Ronald McDonald House (a 5 min walk from the hospital) for 2 weeks. Additionally, the genetics team at the Evelina supported us through his “official” diagnosis, which came when he was 12 weeks old. He continues to be seen at the Evelina by his brilliant Cardiology team. Following surgery, from which he made a brilliant recovery, we then hit a few more bumps in the road. Weaning, for example, was incredibly tough; he wouldn’t tolerate any food at all until he was about a year old and survived purely on milk. With the help of a speech and language therapist (virtually - this was through COVID) we took it really slowly, did a lot of “messy” food play, introducing textures and over time, Finn went from tolerating only a few mouthfuls of puree to full meals. He will now eat anything and everything (except rice pudding, but I’m with him on that one!!!)


With the help of a speech and language therapist (virtually - this was through COVID) we took it really slowly, did a lot of “messy” food play, introducing textures and over time, Finn went from tolerating only a few mouthfuls of puree to full meals. He will now eat anything and everything (except rice pudding, but I’m with him on that one!!!)

FInn walked the day after Boxing Day when he was 2.5yrs old - it was the best Christmas present I could have wished for - seeing him on his feet, walking independently was a HUGE milestone and he just loved being able to explore more (running & jumping are now two of his favourite things!!!). Physiotherapy was absolutely critical in supporting us with his mobility - he is very hypermobile and his stomach muscles are split as a result of his heart surgery, so we spent a lot of time building up his core strength. We were a bit naïve and never knew how much skill actually went into walking before we starting seeing his physiotherapist (who he absolutely adores; she’s incredible!)

In addition to cardiology, Speech and Language Therapy (SLT), and Physiotherapy, Finn also has portage, a dietician and three different paediatricians. He has also regular audiology appointments to check his hearing and sees an Ophthalmologist for his squint. Sometimes it feels like making appointments is a full-time job on top of our actual full-time jobs!!! Finn will be 4 in July and I could write and write about our journey over the past few years. There have been more surgeries and more appointments than I care to remember and we have learnt so so much about Finn as a person and that of William's Syndrome. I think that one thing that sticks with me is that William's Syndrome is rare. Really rare. So rare that only 1 in 30 GPs will ever see a child with WS and so many of the professionals we meet haven’t ever heard of it. As parents, we have become the experts and have on many occasion passed along a copy of the WS Clinical Guidelines to a health care practitioner who has never seen or heard of WS before!


One of the most difficult things about having a child with additional needs is the fight. You have to fight for everything. SEN support is massively underfunded and under resourced; children with additional needs are entitled to a life that is full of support, experiences and the opportunity to thrive - so why is it so difficult? Our first real fight was DLA, or Disability Living Allowance. Now, you would think that having a child with a confirmed diagnosis of a genetic syndrome coupled with open heart surgery, other physical challenges and global developmental delay would be automatically entitled to it. However, as with most things it really isn’t that simple! We had a to fill out a form that is ridiculously long only for someone within Disability Work and Pensions (DWP) department to decide whether Finn is worthy of DLA or not. And on top of that, it has to be renewed every 2 or 3 years (cue filling out the form from scratch!). Finn has William's Syndrome; it’s genetic. He’s not going to “grow out of it”, be cured or get better. This is with him for life. I completely understand that every claim needs to be investigated as there are unfortunately people out there who will try to swindle the system, however I genuinely believe that there has to be a better way for children like Finn (and for parents/carers too; filling out the DLA form is mentally and emotionally exhausting; having to “prove” that your child qualifies for extra help).


He deserves exactly the same opportunities as his sister and friends; he will have goals and dreams like anyone else and should not be excluded because he has additional needs.

Next up is the Education, Health and Care Plan (EHCP), which lays out in detail any additional support children with additional needs require in school. The decision is made by your Local Authority Special Educational Needs (SEN) team and there is SO much information needed to again “prove” that your child needs this additional support. It took weeks and weeks for us to even complete the parents section, even though it’s obvious that Finn would need an EHCP to access school. Even if you get one (which we luckily did) I feel that it’s often forgotten that there’s a child behind this document; a child that deserves an education and the chance to thrive.


There are still hard days. Mostly centred around 'fear of the unknown' and whether we are making the right decisions, but on the whole, Finn is a really happy little man who loves life and has taught us all so much. He always has a smile on his face and loves saying hello and meeting new people. He is probably the most resilient person I know; he takes everything in his stride and his zest for life is infectious. He deserves exactly the same opportunities as his sister and friends; he will have goals and dreams like anyone else and should not be excluded because he has additional needs. Having a space like Cafélias is so needed, not just in Oxford but across the country. Not only will it be a place for children with additional needs to play and interact with others but it will be a place for parents and carers to come together for a chat or support. Caring for a child with additional needs can be a lonely place; spaces like Cafélias will change all that.


 

Kirsten is a mother of two children aged 8 and 3.5 years old and lives in the South East of England. She works in healthcare and in her spare time enjoys reading and a glass of wine (or two!). She has taken part in a number of fundraising activities for the Williams Syndrome Foundation and the Evelina London Children's Hospital.





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