You will not be alone if you are thinking now that you have never heard of Wolf Hirschhorn Syndrome. I hadn’t either until that is, my son James was diagnosed with WHS at the age of two and a half years old.

The incidence in 1998 when James was diagnosed was around one in 50,000 births and it remains the same now some 26 years later. We were given very little information by the geneticists at the time of James’ diagnosis and yes, I’m so old that we didn’t have the internet then to go home and Google.

Among the information I did receive was a contact number for a lady called Chris Hilder who having a son with the same syndrome herself had started a support group, not an easy task when communication was purely via the telephone and newsletters. And so, with one phone call to Chris, so began my association with the National Wolf Hirschhorn Support group.

Last month I attended the bi annual Wolf Hirschhorn Conference.

It is an event that takes priority on my calendar. It has grown from a small group of families meeting together to a well-established and professionally organised conference with approximately 50 families in attendance this year.

This year was our twelfth conference. The first we attended was in 1999. I remember that first time, such a mixture of emotions. Excitement at finally meeting families who had a child with the same condition as James, searching for information and answers that may help us to know how to care for him in the best possible way but also the feeling of trepidation, meeting other children like James and coming to terms with the reality of how his future may be.

We were of course welcomed with open arms.

We formed friendships that have continued for 25 years. At each meeting we attend we meet up not only with old friends but we meet knew families who are following in our path. We share a unique bond and in those two days we share so much and yes now we also have the advantage of social media and Facebook groups that means we can maintain that contact more frequently.

Sadly, Chris Hilder the founder of the support group passed away in 2006. The group had grown considerably by then but not to the extent it is today. This year just 6 weeks before the National meeting Chris’ son who had WHS also passed away. He was 46 years old. I was very privileged to have met both Chris, her son and also her two daughters. In those early, scary, uncertain days it was Chris who offered us words of comfort and reassurance as she did to so many other families.

I guess we all have routines that we follow to a lesser or greater degree. Whether it’s coming downstairs in the morning and flicking on the kettle and getting the washing on whilst waiting for it to boil or leaving for work at the same time each day and stopping to pick up a coffee on the way.

Whilst some people will find routine dull, others will find it comforting, reassuring even. My son James is one of the latter. He has a severe learning disability and autism. As far as we are aware he cannot tell the time and he doesn’t know what day of the week it is. He knows what’s happening by having routines to follow.   

James has a busy week

He attends different day services and sees his family. He has a visual schedule which his carers support him with looking at every morning. His schedule shows him what he is doing that day. This helps to reduce his anxiety and therefore his challenging behaviours too.

Many of us can prepare mentally for a change to our routine. We may even look forward to it when we have a day off work or go on holiday. But for those like James, changes to routine can be significant. Change can be anxiety inducing, causing him a great deal of uncertainty so it’s important that we understand and anticipate how it may affect him.

Whilst James’ schedule helps him to understand what the day ahead looks like, it can also support him with pre planned changes. For example, if his day service is closed for a bank holiday, he can be prepared for this by showing him and placing alternative activities on his schedule for the day.

Unfortunately, life isn’t always so predictable.

Unexpected changes can happen that are out of our control and these are more difficult for James to cope with. We may set off for a favourite activity of James’, going out for cake and when we arrive the tearoom is closed and we have to head back to the car. Sudden change like this can be just too overwhelming for James and he doesn’t know how to cope in that situation. He was expecting something to happen and now suddenly it’s not.

There is little we can do for James in that moment except offer reassurance, distraction and hopefully an acceptable alternative to alleviate his distress. Sometimes this works and sometimes it doesn’t. Very often those around James who do not know him like we do will not understand his apparent overreaction. At times like this what we need from those onlookers is acceptance and understanding that not everyone can process things in the same way and that for some people like James, the little things in life that we take for granted can be extremely challenging to live with.   

It’s Carers Week in the UK in June. When most people think about being a carer, I imagine they envisage looking after an elderly relative, maybe a spouse or elderly parent, I certainly would have before having a disabled child. As a parent of a disabled child it took a while for me to realise I was a ‘carer’ and that my other child was a ‘young carer’.

This family carer role is so much more complex than the typical parenting role. It includes a hefty serving of admin. Not admin of the car insurance variety, this turbo-charged admin can be very painful, such as listing all the ways in which your child and you struggle, to strangers who will then discuss your situation.

It can be pressurised, such as ensuing your child’s care team get paid on time, their expenses are done and you have paid their tax to HMRC. That’s without even getting started on the day to day care, whatever that looks like for each family with a disabled child / children. Special diets, seizures, medical equipment, behavioural support, emotional regulation, medications, therapies, surgery recovery, continence care.

There is relatively little respite available, in my experience.

Even if there was more, I am not sure it would touch the sides for any families looking after a disabled child. In fact, sometimes I don’t want my child taken off to respite, I’d rather have her here with us but not have to worry about the cooking or cleaning.

Can you imagine how amazing it would be if cleaning services were provided to every family with a child with a disability and, let’s say twice a week a healthy home cooked meal turned up. While I’m dreaming, maybe every family with a disabled child would be given a virtual PA to handle all of the day to day admin, order meds and book appointments. Oh, and the cleaner would also do the laundry and clean the windows. This sounds like, and is, a fantasy. However it does get me thinking about how families with disabled children could be better supported. Maybe it is about more than respite. 

For young carers, the offer seems to be some trips out now and then.

While I am grateful this is on offer and I am sure many benefit, my 12 year old daughter, quite understandably, will not attend as she does not know anyone. I get it. It’s like me voluntarily going to a networking event. No thanks. How could this offer be better? Maybe counselling for young people, or a small budget for them to spend on a wellbeing activity of their choice, with their own friends. Again, there’s room for thinking outside of the box here (and outside of the budget I am sure, but we have to have goals).

I’d love to hear other ideas of how families could be better cared for. Right now, I find we are all too often ‘lumped in’ with all other carers, when each type of caring role is unique. Being a parent carer is a role that anyone who has not done it can’t begin to imagine.  

When it comes to following typical family routines, we don’t conform. When our world began to slowly and almost imperceptibly change (we had a slow and progressive journey into the world of childhood disability), I had tried to hold on to as much typical family life as possible. If we were up dealing with a seizure in the night, I’d just push on through the next day as if it had not happened, thinking we needed to cling on to ‘normality’.

Looking back now I wonder if that’s because I thought things may get better and this whole disability thing may just go away. Maybe our daughter would, like so many people tried to reassure me, ‘grow out of’ her seizures, maybe when she did, she’d catch up enough to attend mainstream school.

None of that happened and now she is almost 10 with seizures occurring most nights.

Our brilliant girl also has a severe learning disability meaning her cognition is similar to that of an 18 month old. If someone had told me all of this at the beginning, I’d have felt devastated. I’d have never known that I’d be perfectly happy as we are, yes with some major challenges, and days when I want to (and often do) scream and cry.

I think the happiness bit has been enabled by us all realising that we needed to flex our life to fit. To forget what everyone else is doing and do what works for us. We say no to a lot of things, we have learnt what our boundaries are.

When we go on holiday as family, it is not a rest or a break. It is caring in a different context. It’s still special and we have great memories, but we don’t get to rest. So, rather than plunging straight back into life afterwards, we try to book respite days when we arrive home so we can get the rest that typical families would get on holiday.

We take regular rest at non-typical times. I can often be found lying in a garden chair with a book at 2pm on a Thursday afternoon. It’s a non-working day for me (office job) and I know the dusting can wait.

If I ever feel a shred of guilt for this (which of course I do) I remind myself that rest is essential.

It’s Saturday today. My daughter was due to have a day at respite, our chance to chill. My plan was to hope for a good night’s sleep, a chilled day with our older child and lunch out (impossible with our disabled child). As it happened, she had a seizure at 10.30pm, was up from 1-2am and then up for the day at 5am. But we could sleep today. Nope. She went to respite, had two seizures and was home a few hours later. My husband is now looking after her while I have escaped to write. We still got the burgers and chips we planned (thank you, Deliveroo).

We are so well versed in this pivoting and I now find it less stressful than I did. We accept the change as there is little point expending energy getting upset about it. I have mentally logged however that at the next opportunity, I need to rest to make up for this. If that’s 11am on Monday morning then so be it.  I’ve got a good book waiting.