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Jacob’s story

Although my labour with Jacob was to say the least, a difficult one, as he was an undiagnosed breech, I was relieved once he was safely placed in my arms.

A perfect, healthy baby boy.

Jacob was able to bare weight at around 4 months old, he could sit independently by 6 months and seemed to show absolutely no signs for worry.

It wasn’t until Jacob was 8 months old that I noticed a tremor in one of his fingers.

I mentioned this to a health professional at Jacob’s development check-up. I remember it being noted down in his red book and being told an appointment would be arranged with a paediatric doctor at our local hospital. It obviously played on my mind what could be the cause of it, and I started Googling various things.

Whilst waiting for our appointment Jacob was severely ill with gastroenteritis which lasted 3 weeks. We were taking Jacob back and forth to the hospital as he was becoming weaker and weaker.

By this time Jacob was no longer bearing weight and his crawling was virtually non existent. He would have to be helped into the crawling position and he would struggle to move his arms and legs.

Our appointment came and we were told Jacob had low muscle tone and he would start physical therapy to help build his strength up.

I remember a sense of relief that we had at least got an explanation and we could help him build his strength.

I asked again about the tremor he had and we were told that Jacob would be seen by a neuromuscular specialist at Royal Manchester Children’s Hospital.

We went home and I started Googling reasons for Low Muscle Tone, Hand Tremors, No Weight Bearing, and I came upon SMA.

As I was reading through signs and symptoms I felt physically sick, as it all made sense.

Everything I was reading, it was describing Jacob’s symptoms.

I remember reading life expectancy for Type 1 was 2 years old.

Jacob was 16 months old. I remember thinking we were going to lose him if this were to be his diagnosis.

I pushed it from my mind as much as I could but it was always there.

Our appointment at RMCH finally came and I remember Jacob being assessed. They checked his reflexes, when they tapped his knee there was no response. I wanted to cry. They then asked us to hold Jacob up above his dad’s head, as he was lifted Jakes limbs just hung down.

Even though I had read about SMA I did not mention it, in fear of it becoming a possibility. It was never mentioned to us at this point.

Three weeks later, on the 19th August 2014 our worst nightmare became real. We were told Jacob had type 2 SMA which meant he would never crawl, stand or walk and that he would need a wheelchair for the rest of his life.

We were told he would continue to get weaker and weaker and that life expectancy for type 2 was adulthood.

I remember breaking down in that room as he confirmed SMA.

The days, weeks after were quite a dark time, which consisted of fear of the Unknown, the feeling of guilt. It was as if we were in mourning. I didn’t want to speak about Jakes condition to anyone. I think I only told one person and Jake’s dad telling his family.

We had been sent home with this diagnosis and not a clue what to do. I remember feeling scared and alone, not knowing where or who to turn to. Jacob continued with his physio but that was it. No advice. No help and no information. We had just been left with a leaflet on signs of SMA.

I found a Facebook group of parents who also had children with SMA. This helped me massively. The support and advice was truly amazing.

We were soon being shown different equipment that Jake would need. First being his supportive Leckey chair.

Then was his standing frame.

All huge pieces of equipment.

Jacob was 2 1/2 when he got his first electric wheelchair. His Wizzybug. This gave Jake so much independence and it was an amazing feeling watching him get up to all sorts.

However I could not shake the thought of “No Treatment”. I would spend hours in bed at night researching clinical trials.

A trial in America called ISIS-SMNRx, now labelled Spinraza, showed amazing results and gave me hope.

I had Jacob referred to Newcastle, for reasons I won’t go into, and they were taking part in this trial for type 1’s. The trial was supposed to go ahead for the type 2’s also and Jake had his name down to take part. Finally, something, hope was near. We waited and waited to hear something. Nothing came of it. It had flopped due to some sort of ethical issues.

I felt as though we were being tortured . How could this happen ? Hope was being taken away and again we were left to just carry on with  our everyday life.

I would follow the progress of children on this trial and felt how unfair it was that my child was not receiving the drug.

On 23/12/2016 Spinraza was approved to treat all with SMA in the USA.

Here in the UK treatment is available for the Type 1’s. We at TreatSMA will continue to fight for access for all. So no other family had to her the words “There is no treatment”.

Although Jake has SMA, it has never once stopped him doing things he loves.

Jacob loves swimming, horse riding and taking his girlfriend on dates to The Zoo.

Jacob is determined, clever, funny, happy and lives life to the full.

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