Hypotonia/low muscle tone
We received the diagnosis of Hypotonia quite early on after Beth was born, we were told she was a ‘floppy baby’ and had a range of tests to assess her level of muscle tone. We embarked upon a programme of intensive physiotherapy but this was in blocks of six weeks and when these finished it was then up to us, as parents, to continue on with the therapy at home. It amazes me now to think we were handed a very basic poorly photocopied information sheet, that explained the specific exercises we should be doing with Beth and we just accepted it and got on with it.
Beth was also fitted with orthotics to strengthen her ankles and support her walking. I cannot actually remember when all this support and input ceased but it did and, in our naivety, we assumed Beth’s muscle tone must have improved.
This is the one area of Beth’s life as her mum, that I feel most sad about – if only I had known then what I know now. Let me explain……To date Beth has had multiple knee dislocations and a double knee operation, this has thankfully, and very successfully, now secured Beth’s knees into place. We took the decision to seek advice from the private sector and used our private health insurance to have the surgery carried out. If we had not done so we would still be on the NHS waiting list and Beth would still, be experiencing a vastly reduced quality of life.
It makes sense if the knees could dislocate due to hypotonia then other joints could too, but no one actually explained any of this to us. Sadly we have now experienced a complete shoulder dislocation and a number of partial ones. It is only since our diagnosis of KDVS, that we have been able to discuss this with our geneticist and finally we are now, once again, following an intensive programme of hydrotherapy and physiotherapy.
Beth’s entire body is affected by her muscle tone, by this I mean her kidneys, bowel and overall skeletal posture. What breaks my heart is that only now, twenty-two years later, do I realise that we should have been following a physiotherapy programme on a regular basis. Beth is a very active twenty-two year old and loved nothing more than going to the gym with her sisters and taking part in Special Olympics athletics. She was also a very keen cross-country runner but this has all but ceased, due to the risk of further dislocations. If only we had known earlier the consequences of low muscle tone, we would have been more proactive in relation to the benefits of physiotherapy. To be honest, we were never offered it as Beth got older, it only ever was an option, and a very limited one at that, during Beth’s early years development.
Through Beth’s most recent spell in hospital we have had to face up to the reality that Beth’s muscle tone is impacting all areas of her health.
We are now in the process of asking our geneticist to document the issues that Beth is facing, in the hope this will shed more light on Koolen-de Vries syndrome. We want other parents with ‘Kool Kids’ informed and equipped with primary facts about KDVS. What richer source is there than parents like us, who are observing and experiencing this syndrome on a daily basis.
Our journey is made that little bit more difficult because Beth is the only individual, to date, who has been diagnosed with KDVS in Northern Ireland. General practitioners and medical doctors in local hospitals have very limited knowledge on the condition. This isn’t a criticism, it merely urges us to forge ahead raising awareness for other parents and medical staff alike.
So, if any parent is at the beginning of their journey with KDVS please, please be proactive in your requests for a continuous, on-going physiotherapy programme for your child, right into adulthood. It is not acceptable for the programme to cease when your child is no longer in preschool, middle or senior school. Make it a constant, everyday occurrence in the lives of your child. Neither accept that the programme is only required when trauma occurs – it should be built into the fabric of everyday life for your child.
It is, by no means, too late for Beth and she is working hard to build up and maintain her core strength. It is exhausting and very painful for her, but as my photos on Instagram illustrate, she is still smiling that most wonderful smile of hers.
A wee footnote as Beth’s mum… I suppose there is a part of me that blames myself for not realising sooner that Beth’s low muscle tone would eventually impact upon her health. The age-old recriminations threaten to come flooding into my thoughts, they are never very far away. Then I watch ‘our Beth’ and I know you will agree – one thing our children all have in common is their tenacity and resilience to overcome and battle courageously on regardless, so we will do the same.
Mum to a Kool Kid 