About a Boy

By Maja Flak

I hope this blog post is not going to be too confusing or too messy to read, but then again; being a parent to a Rett child, gives you a very confusing and messy life at times. You will be living in a whirlwind of feelings, confusion, sadness, joys, worries, victories, defeat etc.

Personally, I feel like it is quite difficult to write or talk about having a Rett child, because I am afraid that the reader/listener only hear me complaining about life or my child – which is definitely not my intention, because I love my boy – endlessly – no doubt about that. But did I dream about being a mom to a child with such a tragic diagnosis? No!

We all dream about having healthy children, that will develop as most do. But sadly, that is not my life, or my story… or my son’s story. No, Tobias has a diagnosis, that many have never even heard about, and if they have, they always ask, ‘but isn’t it only girls who can be affected by Rett Syndrome?’ And then they look at me, confused. I totally understand where they are coming from, because I did not know that boys could have it either. But now I know, because my son does indeed have Rett Syndrome.

I do not want to bore anyone with the whole story about how Tobias changed from a typical healthy child to a Rett child – because any Rett parent knows about this, and they have been down the very same, dark, road; enjoying their little bundle of love, seeing them develop, only to experience the invisible thief, that comes out of nowhere, and starts stealing away your child – piece by piece.

You actually live to experience the death of your child. Sorry it seems harsh, because yes, our Rett children are still with us, but no, it is not the same child as before Rett came sneaking into your life. Rett takes your child, as they were, replacing them with another child; a child that will no longer develop, and that child will keep you as busy and tired as if you just had a baby. But this is not a state or a phase, no, it is your new life with this child. This is not me trying to put anyone down, but for me, this is simply the best way of answering when people ask, ‘but what is it like to be a parent to a child with Rett Syndrome?’

Tobias did learn to walk, and he is very fortunate to still be walking at 12 years old. I am very thankful for that. He is also pretty healthy, and he is not dependent on anything else than me (obviously) and his epilepsy meds (he does not have any seizures now) and he is not in/out of hospitals.

So, I know that my child is ‘luckier’ than many other rett children. But still, it is a difficult diagnosis to deal with.

Many professionals, they talk about the phases we go through as parents, when we have a child with a disability – no matter the diagnosis – and they often mention the ‘grief period.’ I do not know if it is just me, but I do not feel that phase is ever disappearing. For me, I can have many days where I do not really think about my son’s diagnosis, but then BOOM, I get hit by grief and sadness.

Be it seeing a boy in a garden, playing soccer, or a girl giggling loudly in a swing at the playground… then it hits me; my boy will never play soccer, he will never say ’mom’ again, he might never be able to dress/undress, or even brush his own teeth. He might have to wear an incontinence pad for the rest of his life. He might never experience having a girlfriend, or just a friend at all.

My boy is not very social – yes, in school, but that is all. He does not like big gatherings, and he becomes very easily insecure or sad and frustrated if we are out and about. So, we live in a little bubble, just him and I. It is tough and it is sad, at times. Mostly it is actually a very lonely life. Maybe it is because the father of my boy is not around, so it is only me dealing with all the stuff that Rett requires. It feels lonely, and I hate to admit it.

My son was ten years old when he was diagnosed. Doctors had been trying, for so long, to figure out what was wrong with him. When my boy was around 4 years old, I started reading about Rett Syndrome and I cried… I was so afraid that my boy had this disorder. Rett is always bad – no matter gender – but boys do seem to suffer more from it. Many Rett boys die at a very young age, and many Rett boys are very, very poorly – I know the same goes for many Rett girls as well.

Our doctor felt it could be Rett, even though it was so rare to see Rett in a boy. They tested Tobias; the result came back negative and I was relieved. Then it hit me again; if it isn’t Rett, then what is wrong with my boy? Why did he stop talking? Why did he stop using his hands? I had so many questions but nowhere to go. Time went on, and my son’s doctor kept mentioning how much Tobias looked like a Rett child with all his new ‘stereotypical movements’ and his story was so much like other Rett children. So, they tested him again… again the results came back negative.

I do not think there is a disease, illness or disorder that I have not stumbled upon, in my searches on Google. I have spent days and nights looking around for answers – so much that I kind of gotten myself sick with anxiety, depression and stress.

Then almost two years ago, I received a phone call from a specialist here in Denmark. She told me that they looked at an old muscle biopsy, which was taken from my boy, back in 2007, and she was very sorry to tell me, but they had found an MECP2 mutation. I do not remember what the woman said after this. I broke down; I cried, and I cried. I got angry, I felt isolated, abandoned in some inexplicable way. Every negative emotion you can have, I had. It was the worst phone call, I had ever received. I could not really take it in, because all that was going through my mind was:

My son is going to die soon

All I could find on the internet, was that boys with Rett Syndrome died young, and my son was already 10 years old – which is still young, but kind of ‘old’ for a Rett boy. Since he has gotten the diagnosis, many have asked, ‘but are you not feeling much better, or a bit more relaxed, now you know what is wrong with your son?’

What do you answer to that question? To be honest, I am always a bit dumbfounded when people ask me this. Yeah sure, now I know what to look for, where to seek information etc. but no, I do not, in any way, feel more relieved or relaxed.

In March this year, Tobias turned 12, and he is doing quite well. I am very fortunate and thankful. I try and enjoy every day with my kid, and I tell him I love him, and how proud I am of him.

One positive thing, if you can really say anything positive about Rett Syndrome, but that is the fact that our children’s eyes are the most telling ones. You can stare into them, and you just want to take a swim in them, just dive in and see what is going on. It is also very fortunate, since Rett children do not usually have any spoken language (my son had but lost that ability) so they use their eyes for everything.

When that is being said, I can also be overwhelmed with sadness when I look at my boy. Sometimes he can look out, into the horizon, and he looks so lonely or like he truly wants to run out and see what the world has to offer. Or he can stand, staring at all the children running around at the playground, they are laughing and having tons of fun. Sometimes my boy smiles and laughs, being entertained by the other children’s play but occasionally he looks like he wants to join, he wants to be the one flying in the air on a swing, he wants to build a sandcastle. Those times, I become sad. I want my son to be able to play, I want him to be happy at all times but most of all, I want him to be able to do what any other child can. I hate that Rett Syndrome stole that away from him.

Rett Syndrome creates a very ambivalent way of looking at life. Your child can look at something with a smile, or he or she can look at it with a sad stare. It is frustrating because you cannot help them. Yes, you can let them look at the toy, they were staring at, but they cannot take their hands around it. They can only sit back, and look. You can see that your child is struggling with the fact that they want to play with the toy, but that their body cannot help them. They are trapped inside themselves.

I am thankful that my boy can use his eyes as he can, but I am also deeply sad by the fact that he cannot put his gaze into action.

I hate Rett Syndrome, I really do – but I also try and accept the fact that I cannot change my son’s diagnosis, I cannot remove it. It is there, and it sets the order. But I can fight, with everything than I am and have, to make sure that my boy lives the best life, he possibly can. I can make sure that he is never in need of anything. I can make sure to let the world know about this ugly disorder, and I am doing that – but it is a difficult task, and I cannot do it alone – therefore I am very grateful for organisations such as Reverse Rett, I am thankful for all Rett parents – I am also completely heartbroken for any Rett parents who lost their beautiful child. Rett Syndrome is not merciful. It is a devil who keeps our children as hostages.

I wish I could say that I am not grieving anymore, or that I would not want to change anything at all – but that would be a lie. I think I will forever live with a sorrow that can never be taken away, for as long as I live. Not that I will spend a day being sad for no reason, and I do all I can to make sure that Rett Syndrome is not living as a welcomed guest in our household, but I cannot fake it, and nor do I want to. There will be sad days, days where I feel like I am not good enough as a mother, days where our world is crashing… but I allow those days to be here, because I know they do not stay permanently. Days can also be full of joy, funny moments, silly thoughts, and days can also be days where we celebrate the small victories in a Rett life. For example, my boy lost the ability to hold a fork and eat by himself but he has finally learned to hold a fork again and put the food into his mouth. It has taken a very long time.

If there is anything positive to say about being a parent to a child with Rett; it keeps you on your toes, and you never rest for too long. You are never bored, and you cannot be lazy! You are awake to see the days and nights. I am not trying to be funny, or anything, just trying to brighten it up a bit. Truth is, I believe, that all Rett parents need more sleep because our children do not sleep a lot. My boy is an expert in ‘powernaps’ – he can fall asleep and just as I want to nap as well, he wakes up and is all refreshed.

To all those involved with Rett Syndrome (parents, siblings, grandparents, friends, specialists, doctors, professionals and volunteers) thank you for being you. Our children are all individuals, and they can be affected by Rett Syndrome in very different ways, but one thing we have in common is that we all want a cure for this terrible disorder. Until we have that, and until every Rett patient can be treated, we have to stand together to make sure that the world knows about us, about our children.