I didn’t believe in mums intuition until I had kids.
Annabel was born into a long hot English summer (they happen every once in a while). The only thing that seemed odd in her early days was that she took forever to feed, but heh, what did we know about babies, Annabel was our first.
At around 1 year many of Annabels peers were crawling around, some were even walking. Phew I thought, as Annabel sat stationary happily playing. After a couple more months I began to worry but the Health Visitor said, every child is different, so again I thought, what do I know? At around 18 months, we began to notice that every time Annabel got a cold, her Right Eyelid would droop. Something we now know to be Ptosis. We were sent to Moorfields Eye Hospital in London. After a few tests, we were told ‘it’s a one off congenital abnormality’. The words haunt me now.
At 2 Annabel could speak 20 words – just. We were worried again but a discussion with a Speech & Language therapist assured us again that every child is different. Some of her peers were having full conversations. We now know this delayed development was probably associated with early hearing loss.
At around 3 ½ we began to notice that something wasn’t right with her hearing. She began to turn the television up and occasionally didn’t respond to her name. We asked at nursery, they said they didn’t notice anything wrong with her hearing. 2 weeks later they changed their view. We got a referral to a local hearing clinic who said Annabel had a 20 percent hearing loss in one ear, and Glue ear.
We were told to ‘ride out the next six months’ and see if the glue ear resolved but after three we were knocking on the door saying no this needs to be dealt with now. Under a general anaesthetic grommets were inserted and her Tonsils & Adenoids taken out. As soon as she came round from the surgery I knew it hadn’t worked from a hearing perspective but again I was told to wait ‘as she needs to get used to hearing again’. So we waited. Annabels hearing got worse. Annabels night time sleeping had improved following her tonsillectomy so some good news. (Later we would discover that having her tonsils out probably helped her immensely)
In summer 2011 we noticed that Annabel was starting to fall a lot and would walk like a drunk. She couldn’t jump like the other children and her little sister was beginning to overtake her in terms of gross motor skills. We told ourselves perhaps it was still just a hearing problem and her balance was out of kilter which explained her gross motor skills.
We pushed the panic button on our next visit to the audiologist.
Finally someone listened to me and agreed there was something else astray with Annabel. She was then subjected to a barrage of blood tests, psychometric testing, ECGs, EMG’s, MRI’s etc. They all came back normal. We should have been pleased with this news EXCEPT that in front of our eyes our darling daughter was deteriorating daily. Soon she could no longer dress or feed herself and other life skills were fading fast. We were told it must be something very rare.
In January 2012 Annabel was tested for Fredereichs Ataxia. The wait seemed like an eternity. It was negative. It will be really really rare we were told, we may never find it.
In mid March 2012 we met two specialists (a metabolic consultant and a neuromuscular consultant) at Great Ormond Street Hospital, London. We were very fortunate they were involved in research collaboratively with Henry Houlden at the National Neurology Hospital, London. At 5 ¾ Annabel went to this appointment in a McLaren buggy – she could no longer walk any distance. She was profoundly deaf. Her arms were floppy, she could barely hold a pen. The ipad had become about the only ‘toy’ she could play with navigating it by swinging her shoulder and tapping it with her thumb joint.
The consultants immediately indicated Annabel may have Brown Vialetto Van Laere syndrome and did a skin biopsy. She was petrified, we were too. Just a few weeks later we were called back and a research based diagnosis of Brown Vialetto Van Laere syndrome was confirmed. Riboflavin protocol was started immediately.
12 days later Annabel was admitted to the Royal London Hospital with respiratory weakness. 2 days after admission she arrested. I thought we’d lost her. Thanks to an amazing team of people and Annabels own fight she slowly improved. After almost a 3 month stay in hospital we were discharged. We went home with a plethora of medical equipment (a nasal feeding tube, Bipap machine to help her ventilation at night, oxygen tanks, suction machines, nebulisers, numerous medications and a wheelchair).
They were lonely months. I will be honest its very scary when you read that there are just 58 reported cases of a disease in 100 years globally. You feel very alone. You ask why Annabel, why us? I don’t know the answers to that question now and I doubt I ever will.
What I do know is that it is probably not as rare as it is reported to be, it just goes undiagnosed with probably fatal consequences. A small and perhaps pushy group of parents (for which we make no apology) located each other and operate a small but growing support group which, sits behind this site. It is our hope that we can raise awareness for this condition, find others so that they too can access the support and find a cure.
Annabel is stronger now in most areas than when she started the Riboflavin protocol. However her eyes are now deteriorating and her spine is showing early signs of scoliosis. She struggles daily with motility issues. She goes to school, adores princesses and being out and about.
This is a rare disease, people havent heard of it, it doesn’t attract big research or pharmaceutical dollars but the people that get it genuinely are one in a billion – our special daughter Annabel is one of those.
Ps Now I believe in mums intuition. If you think something is wrong as a parent, push push and push some more.