It’s ****, that’s what it is….
It has to be one of the most strangest diseases out there, if not the most.
Bare in mind I’m still a newbie at this, but I’m going to try & explain to you how this affects R***.
1. SEIZURES – just ****** awful. Always prolonged, always needing rescue meds. Mainly focal, usually generalise to tonic clonic. Nasty elfs.
2. TONIC POSTURING – ( super baby! ) absolutely bizarre, stuck in the same pose for a few minutes, it’s like musical statues & the music has stopped, these usually rectify themselves but sometimes will progress to a tonic seizure, treat with rescue meds if they do.
3. DYSTONIA, – absolutely heartbreaking to witness
Inconsolable crying in pain with stiff spasming muscles, bloody horrendous.
4. HEMIPLEGIA, – this is paralysis of one part or one side or both sides of the body. R***’s hemiplegic attacks are usually in her arm, and yes it alternates from one side to the other. The full body ones she has so far have been brief, thankfully. Her face did drop one time, she had an emergency CT scan. I would of sworn it was a stroke if it wasn’t ruled out. These attacks can be anything from numbness to full paralysis, obviously she can’t tell me how these feel, I just have to guess.
Hemiplegic episodes go away whilst you are sleeping, but they can come back with 15 minutes or so upon waking.
5. APNOEA, – every now & again her lips will tinge blue, her heart rate will shoot up & its like she’s trying to swallow quite quickly. Now, I’m starting to think this is some kind of hemiplegia in that area but her consultant says not
AHC parents can you help me out with this one please? Also noticing she can do this whilst in pain. It doesn’t last long, but long enough to notice & blast her with oxygen!
6. NYSTAGMUS, – this is uncontrollable flicking eyes from side to side like she has been possessed, she does not suffer with this all the time so we treat as a seizure & give rescue meds after 5 minutes.
7. CHOKING, – this girl can choke on thin air! Not all the time, but sometimes. There has been quite a few episodes where we’ve had to save her. Two occasions being serious. Once she bit off a piece of doormat (the hairy kind) she turned blue & her dad saved her. Of all the seizures etc I’ve witnessed this ****** scared the **** out of me, her whole face was going blue
The last bad choking incident was New Year’s Day, she had woken that morning and ate the extra tape I had put on her sats probe & woke to her choking. I dislodged it, but she took a deep breathe & swallowed said tape at the same time. Pooptapegate followed – yes it safely came out the other end
8. GLOBAL DEVELOPMENTAL DELAY, – At almost 21 months old, she just mastered crawling, she never sat properly safely unaided until she was about 9 months old. She can get safely onto her knees now and is trying very hard to stand up. She can say mum & dada, and has just started babbling. She lost all this once before cos of one nasty seizure & it just disappeared & took months to come back, she’s at around 9/10 months developmentally.
9. HYPOTONIA, – low muscle tone, hence why it’s taken her a while to sit, crawl etc her core was very weak but it’s getting stronger, her lower legs & feet very weak, like you would see in cerebral palsy – anyone know the correct term?
10. EATING, – R*** is still being weaned, she is still predominantly formula fed, some days she wants some mush other days she don’t. So, she has formula, she’s still on a good 4 bottles a day of follow on formula. She will not drink water or even more bizarrely juice. All babies love a juice right? Nope, not this one! The only thing other than milk she will drink is dioralyte – yep, exactly gross
This is a whole separate post in itself.
11. THE GENE, – ATP1A3 is the gene that causes most cases of AHC, this is the one R*** has, her mutation is also Novel which means that no other person has the same variant as she, so we don’t quite know where she sits on the AHC spectrum. It can also be caused by ATP1A2, and you can even have symptoms without the genetic mutation. I think there may also be another gene possibly associated with AHC also?
12. STUFF….. occasional fatigue, recurrent infections – she’s had tonsillitis 7 times in 6 months, she will be having them out, she picks up bugs really easily. Balance problems. Headaches. Teeth grinding. Excessive dribbling. Eye poking & mouth grabbing & various other bits & bobs.
AHC – alternating hemiplegia of childhood, except it’s not is it? It is in the sense of yes, she has hemiplegic attacks that alternate from side to side. Yes, she’s a child so it is of childhood but it starts in childhood, it will last her whole lifetime.
There is no cure for AHC – you treat, or try to treat the separate components of it, not the disease as a whole. Yes, it can be fatal.
So, people ask me what’s wrong with R*** and I say ‘she has AHC, it’s neurological, she has epilepsy & some other funky stuff…. There is the answer in full
Despite all the above **** that comes under the AHC umbrella, she is the most gorgeous happiest baby ever.
We’ve got you princess.
Still in Edinburgh we move on to visit a young lady, a long standing patient with NARA. Her old portable nebuliser had seen better days so a new up to date portable was given, and all spares needed. We left a very happy lady, as she was leaving for a holiday that weekend, she said the new equipment would be a great help whilst she was away, and she would be able to go out and enjoy herself knowing she had help to hand if needed. We hope she has a great holiday.