I always believed that if Beth received a diagnosis it would label her and put her in a box. This box would then restrict her, cap her development in some way and there would be no ‘great expectations’, only those that were already recorded and documented. Medical experts would declare ‘case closed’. 22 years on, and a year after Beth’s diagnosis of Koolen-de de Vries syndrome, I have come to realise with great clarity that perhaps I was wrong. A diagnosis would not label Beth, but instead allow us the opportunity to glance at what was ahead and, more importantly, prepare us for the things that, until a year ago, were completely unknown to us – those periods that took us to the wire in relation to Beth’s health.
So, for all those lovely parents out there who have been gifted with a very ‘Kool kid’ I am going to document below some of our own experiences of Beth in the hope it will encourage you all and maybe offer a bit of advice for what it’s worth.
Seizures/Epilepsy
Beth took her first seizure when she was 18 months old, we were told it was probably a febrile convulsion but I kept telling the doctors that it lasted a good fifteen to twenty minutes. I knew this because that’s how long it took for the ambulance to arrive. The next time was in the back of my mum and dad’s car- Beth was hospitalised and, again, the seizure lasted around 15 minutes. Every time Beth had a seizure it was always accompanied by a very high temperature, therefore we fully understood why some doctors considered the seizures to be febrile. We were eventually sent for an EEG, both asleep and awake, and various brain scans. The results came back clear; no sign of epilepsy. By this stage Beth was two years old. We were then admitted to hospital as she was having breathing difficulties and she was placed into an isolation unit as her consultant was worried that her immune system had been ‘compromised’ due to an infection. Beth had another seizure whilst in hospital, this time without a temperature, which for all of the doctors dealing with Beth, changed everything. We were then sent to another hospital for tests and, yet again, they came back clear.
The entire situation was made that little bit worse because we had absolutely no idea why Beth was presenting with any of these issues, as we still had no sign of a diagnosis. Breaking point came when Beth had a seizure that she was unable to come out of – she was put into a coma and placed on a ventilator. She remained in intensive care for a week. The decision was then made to prescribe Beth anti convulsion medication twice daily. We were trained in CPR and how to administer diazepam which we had to carry everywhere with us. This was Beth’s life for about five years. A plan was put in place for nursery and school. I can recall in Sunday school we had a trained nurse who would carry Beth’s mini backpack containing her diazepam. Beth was fit free for three years so we asked could we try weaning her off the medication. I can remember a week after the dose was reduced I was driving in the car, Beth was in the back in her car seat and a bird flew over the sun screen on the roof of the car. Where before Beth would not have reacted, now she pointed and let out a squeal of delight. I knew then we had made the correct decision to persevere with asking the doctors if Beth could be tried off the medicine.
Beth remained medication and fit free until she turned 15 years old, when she began having minor absences she would try to hide these, and at first I thought it was just my imagination. I soon observed a pattern developing where she would have an absence, her hearing would go badly down and she would then sleep for about three days. We were hospitalised and the familiar round of tests commenced again. Our consultant still remembered our stay in ICU thirteen years earlier and in her lovely gentle, but firm, manner said she wasn’t willing to take the risk. Beth was, once again, placed on medication – this time a different, more modern drug but it wasn’t without its side effects. That, however, did not outweigh the risk of Beth having a seizure like she had in the past. Therefore the decision wasn’t really up for discussion.
I noticed a dullness in Beth’s responses returning like before, she hated it and I hated seeing her sad. Life continued like this but once again Beth settled. Our neurologist was happy with Beth’s progress so I asked would we be able to reduce the medication. Lots of discussion ensued and Beth’s opinion was sought this time.
That was nearly four years ago and Beth is off all medication and ‘fit free.’
I can feel tears coming as I write this as I am in total awe of Beth and how she has coped and how thankful I am to be where we are at the minute.
So if you are anywhere in our journey and recognise any of what I have written, please follow your instincts as a parent, take heart, ask the questions and keep asking. What I have learned by following stories on Instagram is that many of you received a much earlier diagnosis than we did and, perhaps if we had known of the chromosome 17q earlier, we would have been more aware of what lay ahead for Beth. The flip of that is we may have accepted medication was going to be Beth’s future and we would never have sought constant discussions with Beth’s medical team. I do have to pause and caveat all I have written and say that we did not ignore the advice of the experts we just simply asked them to listen to us as parents.
Mum to a Kool Kid 