The story of Vickey

Guest Article: Alternating Hemiplegia of Childhood

For Rare Disease Day (28-Feb-2017), I have invited a family friend to write about her experiences of AHC, a rare neurological condition affecting 1 in 1,000,000 children. I’m privileged to present her family’s story.

Ok so here goes, the journey of a rare mumma. I warn you now it’s a long journey and we’re only 5 years in, yet already I could probably write a book, so I’m going to give you the highlights. Also, because this is a question we get asked all the time, no we didn’t know anything before Mr Pickle was born.

We’ll start where all good journeys start, at the beginning. I’ll skip the 16 hours of things not going to plan, of not having the birth I’d envisaged, of having far more doctors doing exams than I’d really wished for and we will go straight to the theatre. This is where my baby boy was whisked away from us making the strangest noise you’ve ever heard when breathing, before I could even hold him, he was taken straight to neonatal ITU.

The pain of not knowing what was going on, of not being able to hold my baby, the ache in my arms where my baby should be. The fear that raced through me when we walked into ITU to hear alarms blaring from machines and my baby surrounded by doctors and nurses with that look on their faces. The feeling I don’t think I’ll ever be able to put into words of knowing my tiny helpless 20 hour old baby had to go for an operation in another hospital. Admittedly the other hospital was only over the road but it could have been hundreds of miles away because he wasn’t in my arms.

The doctors worked their magic, he came back to us ventilated and intubated but alive. He showed us the fighter he was going to be, he tried to take his own tubes out, he breathed over the ventilator. He surpassed everyone’s expectations and came home at just 7 days old. Ok so his breathing still scared the living daylights out of any healthcare professional that saw him and you could hear him breathing from the opposite side of the house. All of this seemed awful at the time and I didn’t know how we lived through it but now it all pales into insignificance compared to what we went through in the following years.

Right so I’m going to skip forward now past the months of knowing that something was wrong, knowing that my baby had tonal (neurological issues), knowing he wasn’t hitting his milestones but no one would believe me. I was just a panicky first time mum, all children develop at their own pace, maybe he just liked holding his arm in that position. You name it and I heard it. If I was given a pound for every time someone said to us, they all develop at their own speed or such and such child didn’t talk until they were x age but now you can’t stop them. I know they were trying to help but in reality all they were doing was belittling how we were feeling and what we were going through.

When Mr Pickle was 14 months old he was sat on the kitchen floor and suddenly fell over, he couldn’t move his hand for a few hours and we now know that he was having his first hemiplegias. They kept happening every couple of days for a few weeks and we eventually went to the GP who sent us to A&E. They got hung up on the ‘fall’ did x-rays and sent us home. Then a few days later it happened again much more severe this time and he has never fully recovered. We went back to A&E, ended up being admitted to a ward, more tests, more doctors scratching their heads just to be sent home at 2am with the promise that they’d talk to the neurologists on Monday morning.

Monday came and I got a phone call they wanted Mr Pickle back at the hospital asap to be seen by neurologists, so I got him there as fast as I could just to spend the rest of the day waiting. I must have lost months of my life by now waiting. Waiting to be seen by doctors, waiting for appointment dates to come through, waiting for test results. Of course these days we know what to expect. Whenever we go for an appointment we take food, drink and toys (even for a 9am appointment). I look like I’m going for an overnight stay just for an outpatients appointment. Anyway we were eventually seen by the neurologist at about 6pm and admitted. Cue 3 ½ weeks of inpatient stay and lots more waiting. We left with still no diagnosis but a whole host of doctors, physios, speech & language therapists, though the team we had then wasn’t even a quarter of the size that we have now.

That was the start of the journey for a diagnosis, the holy grail. It took 18 months watching my baby go through three general anaesthetic, countless blood tests, nerve conduction studies and numerous possible diagnosis. We were on what felt like an endless cycle of doctors appointments which went something like this:

“The last test was negative so now we think it may be X. We need to do test Y”

Rinse and repeat every 3ish months. We were very careful never to look up the new diagnosis as we didn’t want to glimpse into our future until we knew for sure.

Well meaning family members and not so well meaning Jo public would say to us

“My uncles, sisters, aunties, cousins, niece had similar symptoms and she had…… why don’t you ask the doctors about it”

The thing is you have to place trust in the doctor’s, trust that they are the experts and that they are best placed to find the answer. So every time someone says something like that it feels like they are questioning not only the doctors but you as a parent.

During that time I’d had 3 lots of fairly major knee surgery and found out I was pregnant with my daughter. Most of the time I was able to just focus on day to day life and accept that somehow I’d managed to squeeze in having a newborn baby with at least 2 medical appointments a week and an almost 2 ½ year old who still couldn’t walk, feed himself or even talk. That is until people asked us the seemingly innocuous question ‘so what’s wrong with him?’ Which inevitability lead us to ‘well do you know if the baby will have the same thing?’ That’s when I’d be left asking myself what was I doing? How would I ever cope?

August 15th 2014 was the day our lives changed forever. It was the day we received the diagnosis of Alternating Hemiplegia of Childhood. After 2 ½ years you’d think that would be a good thing right? Wrong because now we know this is it. This gaggle of professionals who are helping us raise our son is only going to get bigger. These endless appointments are going to be a permanent feature of our lives. This rollercoaster of never knowing which Mr Pickle we are going to get up in the morning and which one we will put to bed at night. That is our lives forever.

It still hurts every time he gets a new symptom, every time he shows you his arm that isn’t working as if he wants you to fix it, every time he’s screaming with pain because of dystonia. Or as with most recently when we had taken a heart wrenching decision to have a surgeon operate on your son to put a feeding tube in. A feeding tube that will mean that you no longer have to fight with him to get every drop of fluid into him.

We were sitting in Mr Pickle’s room waiting for him to come back from surgery when the nurse walks in and says that the surgeon is on the phone and wants to talk to you!!!! A million thoughts run through your head, trying to reassure yourself that if something serious was happening a) the surgeon would be too busy to talk to you b) he’d be talking to you in person not on the phone. The phone call turns out to be the surgeon asking permission to open up your son’s stomach to get out what turns out to be a surgical glove in his stomach.

So the decision to improve our son’s quality of life has backfired, the trauma of the surgery led to his most severe episode ever. He couldn’t move any of his limbs, he couldn’t sit, stand or walk. We tried his rescue meds but no luck so we just had to sit and wait and hope, hope that he would eventually recover.

Watch as your little fighter gets up over and over again just to fall down because he is so determined to get into mischief. Or when he goes to school just for the morning but is so tired that he can’t even hold his head up. Today he is back to 80% of his usual self all we can do is continue to hope that he will eventually make it 100%.

With time comes acceptance, we’ve found a support network of other parents that have gone ahead of us and can offer us support and advice. We’ve found our life village of people who accept us and our Mr Pickle for who we are. Don’t get me wrong there’s been pain and heartache along the way as people we thought were friends and even family have shown their true colours. Have shown that they aren’t special enough to deserve to be around our cheeky, mischievous, dribbly, loving, super smiley, one in a million Mr Pickle.

Find others with Alternating Hemiplegia of Childhood on RareConnect, the online platform for people affected by rare disease