Girl Tribe Tales Part Five – When Life Goes “Pop”

Today’s Girl Tribe Tale is written by Jackie and describes her feelings around diagnosis and finding out she is a carrier of the fragile X gene.

A lot of feelings described here that I can relate to ❤️

You go through life thinking you know who you are, what you’re about, then life throws you a curve ball that explodes all that you know or what you thought you knew about yourself, your relatives and what makes you you. It basically “pops” that safe bubble.

I’d had a few minor “pops” in life from cheating first loves to an abusive partner whom I had my 1st child with. These “pops” you can pick yourself up, reevaluate things let them make you stronger as a person.

When my 2nd child Olli was born, he was lovely and cute, all the things a newborn should be but as he grew and developed I knew things weren’t right, I questioned the Health Visitor who just kept giving me the same crap about “all children develop at their own pace”. Well I’d had enough of this just before his 2nd birthday, I went to the doctors and demanded that I be referred to a paediatrician. The doctor was more than happy to do this.

When Olli was two years and three months old we finally had an appointment, I went armed with research about delayed speech and what I wanted. Anyway what knowledge we left with after that appointment was a “wow” moment.

As soon as the lady saw Olli she gave him a diagnosis of “fragile x syndrome” and ordered bloods to confirm it. She then outlined what it was, what it meant for him, where we could find support and sent us for genetic counselling. We had an answer but not one that was expected.

What was this “fragile x?”

How did he get it?

All these questions were now spinning round our heads.

Fast forward 3 Months, we got the results that confirm the fragile x syndrome, the following week we saw the geneticist who gave me my biggest “pop” she told me that I had passed this gene to Olli that I am a carrier of this syndrome.

33 years of life, knowing who I am and what I’m about to be told actually some of the strange things you do maybe because of this gene. Then to be told that the child I was pregnant with could also have fragile x as the more children u have increases the risk of the mutation on the gene expanding.

My life suddenly went Bang, I had no idea of this gene ran in my family, I had unknowingly given it to my second and third child. The guilt was awful, the guilt that I probably wouldn’t give my lovely new partner a “normal” child after I had given my nasty ex a “normal” child broke my heart because this man saved me from that horrid beast, he deserved the best of everything but I couldn’t do that for him. This ate me up so much.

I thought I knew who I was.

It took me a long time to accept that Olli and Finley would probably never leave home, Olli most probably will never have kids but Finley maybe as his fragile x is a lot milder than Olli’s.

Life with two children who see the world so differently from me, you and each other is hard at times, but in a strange way it is rewarding.

They have shown me a new way to love my children, to engage with them and a new joy for life that yes involves the occasional bite mark or scratch when a hug isn’t wanted.

Written by Jackie

And Breathe.

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.

That hurts.

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. ❤️

1904 Days. D is for Diagnosis.

It took 1904 days for Tilly to be diagnosed with the rare metabolic disorder called GAMT deficiency. 1722 days of waiting from when I realised she wasn’t quite right at six ish months old.

Almost 2000 sleepless nights. Almost 2000 days wondering what the hell I did to cause this. Almost 2000 days of holding my breath. Waiting for them to tell me the neurologists were right and it was degenerative, that it would leave her quadriplegic and unable to do any of the things she loved. Waiting for them to tell me it would kill her. That I’d have to live my life without her one day. I can’t tell you about the nightmares I’ve had. The words won’t come. Just know that they were the type of nightmares that woke me in the middle of the night sobbing and struggling to breathe. All I ever wanted in life was a daughter, I couldn’t let myself think about losing her. My subconscious thought about it for me, I drowned in my dreams instead.

Drowning. Who knew you could feel like you were drowning whilst sat in a hospital room a few miles away from the sea. You can. You can sit there and feel the air leave your body as the professionals tell you that your child’s EEGs look bad, that the medications aren’t working, that things are getting worse. I have sat and silently drowned more times than I let myself recall. The pain is unbearable, the searing heat that rips down the back of your throat whilst you try to sit there and look composed and nod in all the right places…

Two weeks ago I had a call from Tilly’s geneticist. They had found a diagnosis. GAMT deficiency. She wasn’t going to regress, she wasn’t going to live in her wheelchair, she wasn’t going to die.

Because there is treatment for her condition.

My girl may well be able to talk, run, sing, jump, shout and do all the things she wants to do.

Again, I can’t describe how I feel about that. The joy is so pure and so unbelievably amazing that there aren’t the words. Never in my wildest dreams did I ever think she could be treated. Never.

Never did I dare to believe I could go on to have more children. But I can now if I want to.

It took me approximately 48 hours to realise the full extent of Tilly’s diagnosis. I was and am so happy about treatment options that I glossed straight over one glaring fact.

If it had been diagnosed at birth, she would have been saved from all this.

Treatment from birth has led to children being either unaffected or only mildly mentally “impaired”.

The sheer fucking unfairness that my child didn’t have to be like this. That she could’ve been the girl she was meant to be. That hurts. That hurts like a knife to the stomach. One blood test at a few days old and I could have saved her from all of this. She didn’t have to be locked into the prison that is her mind for all these years. She could’ve been free.

Dwelling on that will kill me. So my focus is on gearing up ready to start her on treatment and look forward to all the improvements she will hopefully make on it. She will never be “cured”. She will never not have severe learning difficulties but she will achieve everything she wants to. I feel unbelievably lucky that my child’s diagnosis has given her a very exciting, new future. I know full well that 99.99% of the time, this isn’t the case. In the back of my mind I am thinking of the parents who didn’t get this news. Who were told their worst nightmares were coming to life. I only wish I could share this with them. No parent deserves to go through that.

I have always said my girl would rule the world and she will, in her own wonderful way.

Bring on the future.