It’s been about a month now since Tilly was diagnosed with GAMT deficiency an incredibly rare metabolic disorder and I’m still no closer to putting into words how I feel about it.
I have spent the last few years holding my breath and waiting for the day I would watch the first love of my life turn into a shell. I was told she probably had a degenerative neurological condition like Rett syndrome. I spent years waiting for my worst nightmare to come true. The horror of waiting for my child to lose all of her hard earnt skills was similar to that feeling when you’re nauseous but can’t be sick. There’s no relief. It is a relentless and crushing feeling. I was holding my breath. Outwardly positive, inwardly waiting for the worst.
But that isn’t coming. Tilly doesn’t have a degenerative neurological disorder. They may even cure her epilepsy. My nightmares of losing her to a seizure may come to an end. I don’t need to tell you that the thought of losing my child makes my lungs burn and my throat close over.
How do you ever put into words how it feels to go from waiting for your child to lose everything to being told she will develop and the future should be bright.
It feels like I can breathe again. Like I can inhale and actually fill my lungs with the hope that the future for my best friend on the planet will be more than I could have ever hoped for her.
I have my sad moments. It’s incredibly tough to know that I could have saved her from all of this if it had been screened at birth. She didn’t have to be disabled, she didn’t have to be epileptic and she didn’t have to spend five years trapped in her own body. Treatment is too late now to save her completely. She will always have profound special needs. But she didn’t need to.
Tomorrow Tilly and I (and my mum) are off to London to meet her metabolic consultant and start treatment. I will be walking into that hospital with my lungs fit to burst with hope.
Hope for the girl I’ve been waiting to lose for such a very long time. The girl I get to keep. ❤️
So it’s no secret I have a lot going on. I’m a single parent, I have two small children and one happens to be disabled. On top of this I’m a student Midwife, a peer supporter and all round busy bee. It’s a juggling act but I manage. I was asked how I do it all…
This isn’t an easy question to answer. I’m not sure I can really do it justice as I don’t entirely know. But here goes:
- Always say yes. If someone offers you help, say yes. Don’t be a martyr.
- Prioritise and don’t waste energy. You don’t have to do it all. Find ways to make your life easier. Get a dishwasher, hire a cleaner, get your Mum to do your ironing 😜.
- Accept how you’re feeling is okay. It’s okay to think it’s really unfair. It’s okay to feel really sad, admitting that to yourself and accepting that it’s okay to feel the way you do is half the battle.
- Learn to fight. You won’t get anywhere until you learn when to stand up and fight for what your child needs. Never let them fob you off and never back down.
- Have PJ days. You don’t have to be out and about all of the time. It’s okay to stay home and chill out. Kids need down time too so don’t feel guilty if you’re all still in your pjs way past lunch.
- Don’t do it on your own. Find your tribe. Tilly has a team of around 50 people who support me to raise her. Family, friends, teachers, support staff, nurses and paediatricians.
- Celebrate every little thing. We have a roast or sit and watch a film cuddled up eating snacks every time something positive happens. Life is for celebrating after all.
- On a similar note always plan something to look forward to. Even if it’s a quick coffee with your friend, life is more bearable if you know something fun is on the horizon.
- Self care self care self care. Treat yourself. Do a face mask, have a bath, get your brows done, buy the shoes, go and walk the dog. Do what makes you happy.
- Try not to stress. Stress helps no one and it makes you ill. Write a list of what you need to do, tick it off and then go and have a lie down. It’s okay to delay filling in that form or making phone call that makes you want to cry for a few days.
But most of all, talk about it. Talk about how you’re feeling, talk to others in similar positions, talk and laugh with your friends. Always talk.
I’ve been so tired that I’ve slept fully clothed many times. I’ve been so tired that I haven’t bothered to make myself dinner and just curled up instead. I’ve even been so tired I’ve almost gone to bed without taking my three year old up to bed too.
This is life with a child who does not sleep. I rely very heavily on caffeine.
A few months ago, I sat in front of Tilly’s neurologist and told him that my child was broken, she could not and would not sleep. She was surviving on a few hours of broken sleep a night. I was only half surviving by letting her sit and watch Mr Tumble half the night.
So he offered me melatonin. Melatonin is a hormone made in the pineal gland in the brain. Tilly does not make enough of this hormone so now I give her synthesised melatonin made in a laboratory. It puts her to sleep but doesn’t keep her asleep.
It’s been the best thing I could’ve done. Raising a disabled child and her brother whilst juggling university and work is hard enough as it is… at least now she can have a few more hours sleep and I can catch a few hours too before she starts waking again around 3am and I have to get into her bed.
It’s been in the news lately that my local county council are facing massive budget cuts and are failing SEN children. Was I shocked? Course not. Here’s a little list of some of the ways that budget cuts and “belt tightening” have personally affected my family so far in the last five years.
1) When I was in labour with Tilly, the unit was understaffed and so the midwife failed to spot that I was haemorrhaging heavily until my mum pointed out I was turning grey. I almost died in that labour room.
2) When Tilly was a few months old, my GP at the time told me she was “failing to thrive” but couldn’t refer me to anyone bar the growth paediatrician as the referrals would be rejected.
3) when Tilly was 10 months old my wonderful Health Visitor did her one year check early and sent off referrals to physio, development and speech therapy. All were rejected. Not enough funds.
4) When Tilly was 18 months old, those referrals that were resent countless times by my wonderful Health visitor were finally accepted. She couldn’t walk, feed herself or make many sounds by this point.
5) Those referrals didn’t turn out to be very helpful, the physio wasn’t enough, the speech therapy was pretty much nothing, only portage and her new developmental paediatrician seemed to be able to help. My parents fortunately paid for private physio and occupational therapy to finally get her on her feet.
6) When Tilly was struck down by a virus aged 2, she could no longer sit, crawl or walk. Budget cuts meant that rehabilitation physio was a piece of paper.
7) When she was hospitalised for a week suffering endless seizures, again she couldn’t walk. This time a charity stepped in and got her walking again.
8) It took eighteen long months to get Tilly the wheelchair she needed and when it came, it wasn’t really suitable. There was no raincover, it was impossible to push and very very heavy. Budget cuts meant I had to like it or lump it.
9) The local children’s centres were closed. We no longer had a safe haven to go. Isolation crept in.
10) Tilly was discharged from occupational health that she desperately needed because her therapist went on maternity and budget cuts meant she wasn’t replaced. Again, we had to go private. You don’t want to know how expensive that is.
11) The disability team at social services have turned us down multiple times for support and respite “any single mother would struggle with two young children” loosely translates to “we don’t have any money so until you put them at risk, soz”
12) Last year my child tax credits were stopped for months with no warning thanks to a spiteful company called Concentrix going after every single parent they could find. It was a very difficult few months and I am lucky enough to have my parents to help me feed the children. Others were being turned away from food banks and suicidal, feeling they had let their children down by being unable to feed them.
13) Every appointment, every referral, every service, every phone call is painful. You know that you’ll be waiting 6 months for a ten minute appointment, they are so understaffed. You know you’ll be told no over and over and over again.
So. Austerity Britain, how much worse does this have to get before something gives?
I’m asked frequently who exactly I’m finding answers about Tilly for. The answer to that is pretty complicated and I don’t always know. Tilly doesn’t know she’s different after all. It is notoriously difficult to get the support and services for an undiagnosed child. You ream off lists of symptoms and pray you’ll say the right one to tick the box for what you need. It took close to two years to get Tilly the basic level of physio, speech therapy and occupational she is entitled to. “I don’t know” is not the right answer when you’re asked what is wrong with your child.
So firstly but possibly not primarily, I look for the answer to benefit Tilly. I want her to have the right input and level and care that she needs for the rest of her life. I will never let them do anything invasive or unnecessary. She is a person first and foremost, not a research subject.
Secondly, I want to know for my own needs. I need to know for my own sanity. I need to know if it was my genes and my body that failed her. You’d think it didn’t matter, it’s not as if I can control what my genes do. But it does matter.
I am only 27 but I cannot and will not have more children because I don’t know if I will have another disabled child and I don’t know how severely this will affect my child over the course of time. We still don’t know if Tilly’s condition is degenerative or not. With an answer, I can undergo genetic counselling or prepare myself if I ever do want to have another child. I am too young to accept that I will not have more children. But I can’t without an answer.
Thirdly, I am a sister and a mother to another child. I search for an answer for my brother and my son. I want them and their future partners to be able to have children without worrying that they too could have a disabled child. Tilly is wonderful but I would not wish her difficulties on another child, epilepsy is a cruel condition and being unable to speak is very difficult. I owe it to my brother and my son to find all the answers that I can. Tilly’s DNA is with great ormond street now to determine if her epilepsy is genetic. I want them to be able to educate themselves and access all the support available to them when they are ready to have children.
Lastly I do it for families just like mine. The more DNA being tested, the more answers will come. Families like mine will not have live in limbo forever.
That said. I think a lot about what I’ll do if an answer never comes and that’s where Lady Gaga comes in:
“If I can’t find the cure,
I’ll fix you with my love”
I will continue to campaign and fight and advocate for my child and others like her to have everything they need. I will be her voice. I will make sure she has the very best and reaches her full potential. I will do this until the day I die. I’ll no doubt use my last breath to mutter something about equal rights 😅
I’ll do all of that because I love her unconditionally. And that counts for more than anything else.