Emotional Impact of an SMA diagnosis

I think firstly it is most important to talk about the emotional impact of SMA as this is probably the impact you feel first. Again, this response will be different for everyone as we all deal with emotional situations in our own way and have our own coping strategies, but I thought it may offer comfort to discuss how I have coped emotionally with Helena’s diagnosis.

Before Helena was diagnosed I had had the feeling for a long time that something wasn’t quite right. The first time this was acknowledged by a health visitor and she made me hold Helena in a “superman type” position and we just watched as her arms and legs flopped down, I cried right there and then. All the time I had been assured that “all children develop differently” and “she’s just lazy/laidback” and this was the first time someone actually acknowledged my concerns and actually agreed that something wasn’t right. Previously I’d hoped against hope that it was just my paranoia, but now this was real, an expert agreed. The reassurance everything was fine was gone.

From this point I prepared in my mind for the thought that Helena would have to have investigative tests, possibly surgery, possibly a wheelchair, possibly life long treatment; but nothing prepared me for the diagnosis of Spinal Muscular Atrophy. Unfortunately we found out what Spinal Muscular Atrophy was by google searching it having read it on Helena’s discharge paperwork as a possible diagnosis for her symptoms. It was crushing to read what SMA was. To read that it would get worse, that there was no treatment, that type 1 life expectancy was likely to be less than 2 years. This was reading every parent’s worst nightmare written down in a medical condition. After this I barely slept for fear and worry, I barely ate and I thought about it constantly. My mind was filled with the thought “my baby is going to die” and I just couldn’t imagine how I could prepare myself for that.

When at the specialist neurology unit in London we were told that SMA wasn’t the only possible explanation for Helena’s symptoms, but it was the worst explanation and so needed to be ruled out first. This made me feel a little better, that there was still some hope it could be something else. I had questions in my mind, I thought, “Was SMA the most likely explanation for her symptoms? Was it the more common condition that could explain her symptoms?” But I didn’t voice these questions, knowing we would have a 2 week wait for diagnosis I wanted to cling to the hope it might be something else rather than lose that hope straight away.

Unfortunately the day came when we got the phone call that Helena’s blood test results had confirmed the diagnosis of SMA. That night I held my baby in my arms and promised to do everything in my power to fight for her, at that time I didn’t really know what that might be, but if there was anything I could do I would do it. I found emotion came over me in waves throughout the day and the days that followed. I would just be doing something and then I would just start crying thinking about it. I’d go out and see other children running around and playing and I would cry for my baby that she wouldn’t be able to do this. To on lookers she appeared “normal”, little did they know the battle her little body was fighting. I’ve heard it said a lot and I think it’s true that initially after diagnosis it’s like grieving, you grieve the loss of the hopes and dreams you once had for your child and the thoughts you have from the moment you discover you’re pregnant of your little child running around and playing one day. People I spoke to that had known Helena had been in hospital just didn’t know what to say to me after I told them about Helena’s diagnosis and many didn’t realise just how serious it was. I was lucky though, I had an extremely supportive family and in the days that followed diagnosis they visited and called many times and encouraged me to talk and encouraged me to cry and I think this was absolutely the right thing to do. You need to know people are there for you, you need people around you and you need to cry and be sad. You have to allow yourself this time to grieve so that you can face up to it and move forward.

At diagnosis there is a lot of emphasis from health care professionals on the progression of SMA and on the respiratory issues especially. This makes the initial period very scary, because there is a lot of focus on the awful parts of SMA, the life threatening parts. I guess this is understandable because you have to know and be prepared to recognise the signs that you need medical help, but at the time it feels overwhelming and very negative with a lot of emphasis on the terminal aspect of the condition. However as time goes on and the appointments become a little more spaced apart it becomes less about the life threatening aspect of SMA and more about day-to-day living with SMA. I think after time the daily waves of emotion turn into good days and bad days. Even now I still have days when I feel very down about it and the tiredness of waking through the night to feed Helena and reposition her probably add to this somewhat.

For myself I found talking about the impact of SMA very helpful. I found it helpful to join social media SMA groups and to start talking with other parents going through the same experience as me. It’s also inspirational to see the people that are breaking the mould of SMA and defying the odds – some type 1’s now in their twenties and Baroness Jane Campbell of Surbiton, a type 1 who is now 56 and has led an incredibly successful life and this started to build up my hopes and dreams for Helena again. She may be limited in some aspects by her physical disability, but there is absolutely no reason why she won’t be successful and be just as valuable to society as anyone else. I also had a lovely lady from SMA support UK visit us at home and she was able to focus on SMA from a much more day-to-day living with SMA point of view from her experience with other families and much less on the medical aspect and life in the hospital aspect. Obviously as health care professionals mainly see our children in the hospital and when they are unwell, they don’t see the fun times you can have at home and the laughs and experiences you can still have, so of course they will come at it from that view point. But there will still be happy times, Helena makes us laugh almost everyday. We also have a educational therapist that visits us every 2 weeks and it’s lovely to have someone involved that focuses on developing Helena’s abilities, rather than focusing on her decline. Helena is now learning to communicate, sing and say a few words.

I think that to a certain extent you have to try to live your life day to day. If you look too far ahead it can be scary. We try to plan a normal future for Helena encompassing her disability and take the attitude that if things change, then we will change with them. The focus from the early days on the end of her life slowly fades away and you come to focus on how to make the here and now as good as you can.

Unfortunately with day to day living also comes an awful lot of frustration. My experience and the experience of many other parents I have spoken to is that there are a lot of battles to face. It is often a battle to get equipment, we had to wait over 5 months for Helena’s supportive chair for example. You also have to fight to make sure all the appropriate referrals are made and it sometimes feels like information isn’t offered to you and instead you have to find it out for yourself and enquire about it for it to be offered it. Unfortunately, and I’m sad to say, you also often get the feeling that some people don’t think your child is worth fighting for. There is often a feeling that people consider that people with SMA don’t have a good quality of life and therefore live a life not worth living. This couldn’t be further from the truth and as I’ve mentioned there is no reason why Helena shouldn’t be as successful and valuable as anyone else in society. People with SMA often have above average intelligence. Just as you can’t judge how fulfilled any able bodied person is, people shouldn’t feel they can judge how fulfilled your child is, but unfortunately not every person seems to have this opinion and many seem to think because you can physically see a disability that they can voice their unasked for opinions on your child. Lastly there is also the immense frustration at not being able to access trial treatments and perhaps given the results they are showing, this is the most frustrating aspect of all.

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