This is Steph, Alexander's mom's story.
Alexander’s Story – Williams Syndrome
Our Williams Syndrome (WS) journey started just after Alexander turned 2. Before this, Alexander was diagnosed with pulmonary stenosis (a narrowing in his pulmonary valve in his heart) just at a few months old. This we now know is a common symptom of WS. We had noticed that his development was slightly delayed, which we mentioned to our GP however unfortunately the health professionals weren’t able to join the dots. His WS diagnosis came quite brutally after a visit to the clinical geneticist for our daughter Emilia, who was born with a rare condition called Pierre Robin Sequence. The appointment fell on a day that Alexander wasn’t at nursery (luckily, in hindsight!). The geneticist welcomed us into the consultation room; Alexander bounded in and in true WS style, gave her a huge cuddle and plonked himself on her knee. At the end of the appointment the geneticist informed me that she had no concerns about Emilia, however she was very confident that Alexander had WS, which was later confirmed with a FISH test. This was honestly the darkest moment in our journey; the grief and experience of loss of the child you thought they’d grow up to be.
The geneticist quickly put us in touch with the William Syndrome Foundation, who provided us with an abundance of reassurance and advice from other parents/carers of children with WS. The WSF have played an instrumental part in supporting us as a family, practically and emotionally, and also by connecting us with other WS families. I have been so encouraged by the support we have received that I am now a trustee of the foundation which is a real privilege.
We attended our first WSF Convention in Bognor Regis last summer, where hundreds of WS families come together which was an amazing and incredibly emotional experience! Alexander became very attached to an older WS child called Thomas, they were literally quite inseparable! We were gutted when we realised they had left and we hadn’t managed to swap contact details, only to bump into them a couple of weeks later in a car park in Leicester and to find out that they live in Lincolnshire! We have since spent many days with them (often swimming at their local lido in Woodhall Spa!). Alexander has certainly made a lifelong friend in Thomas.
WS presents with a variety of extraordinary gifts and unique challenges. Some challenges include:
· Alexander has been diagnosed with a narrowing in his aortic valve (often known as SVAS) as well as his pulmonary valve therefore this is regularly checked by a paediatric cardiologist at QMC. Alexander has a paediatrician who monitors his other health issues including his calcium levels and thyroid levels which are known to be an issue with WS.
· Alexander is delayed with his gross and fine motor skills and he has low muscle tone meaning he gets tired very quickly. Alexander uses a variety of aids and strategies to support him, such as using an iPad to scribe because physically writing with a pen is a bit tricky for him at the moment. Alexander also has a wheelchair which we tend to use if we’re going somewhere where we will be walking long distance.
· Alexander’s speech was delayed however this has come on leaps and bounds since being supported by his amazing speech therapist Sherisse and since he has started school. Alexander has a sensitivity to noise and will sometimes where his ear defenders if he is at risk of being over-stimulated.
· Alexander is very easily distracted and has a low concentration span (unless it’s anything music related!) and has mild/moderate learning difficulties, therefore a variety of strategies are used to support his learning.
Despite these challenges and the many more I could list, WS comes with the most extraordinary gifts:
· Nobody is a stranger! You may have received one of Alexander’s big hugs or a high five in the playground, and this is because WS individuals are very social and they see everyone as their friend.
· Alexander is an incredibly talented musician. We’re very lucky to have such understanding neighbours! At home Alexander enjoys playing his drums, trombone, saxophone, piano, recorder, harmonica… WS individuals have a natural affinity for music and can pick up a rhythm or recite song lyrics with minimal effort!
· Super memory – WS individuals have meaningful memories of people and places and will often remind us of somebody’s name when we have forgotten!
· Joy – Alexander and WS individuals bring so much joy to a room through their infectious personalities and their love and kindness to those around them.
We now know, 4 years into our Williams Syndrome journey, that Alexander was perfectly made, the way he should be, and we celebrate and encourage the extraordinary gifts he has. Don’t get me wrong, being a SEN parent with the battles we face is not easy, however these battles are eased when you are supported by incredible professionals, by school and by fellow SEN parents/carers as we are.
If you are a parent of a child with SEN and don’t feel you have support from other parents/carers, I urge you to reach out to charities who specialise in your child’s diagnosis, or you can access local support via the Community Coaching Company (you can find them on Facebook) who offer peer support and lots of different SEN activities!
Finally, to those parents/carers who are coming to terms with a child’s diagnosis, I’d like to share this poem with you, ‘Welcome to Holland’.
Thank you for taking the time to read about Alexander’s WS journey. Here is a link to the WSF if you’d like to learn more: Home - Williams Syndrome Foundation (williams-syndrome.org.uk)