Support Hattie’s SMA Journey

I will be participating in the Yorkshire Marathon on Sunday 17th October 2021. I am running on behalf of Hattie to help her through her SMA journey. Below is Hattie’s story…

Hattie was born a healthy 8lb 5oz on 17th September 2019, little did her parents know she was born without the gene SMN1. Hattie developed as she should, sitting, rolling and crawling but she was never able to bear weight on her legs which concerned her parents. Towards the end of 2020 Hattie’s crawl changed and she began to have mild hand tremors. At the beginning of 2021 she lost the ability to crawl. Following hours of research Hattie’s parents requested that she best tested for Spinal Muscular Atrophy (SMA) which is diagnosed through a genetic blood test.

SMA is a rare, genetically inherited neuromuscular condition. It causes progressive muscle weakness and loss of movement due to muscle wasting (atrophy). This may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. There are different forms of SMA and a wide spread spectrum of how severely children, young people and adults are affected. Most people have two copies of the SMN1 gene. Those with SMA have two faulty copies of the SMN1 gene which means they are unable to produce enough SMN protein to have a healthy lower motor neurons.

On 20th April 2021 at 20 months old Hattie was given the devastating diagnosis of SMA type 2 at Sheffield Children’s Hospital. In 2019 the UK passed a drug called Spinraza and two weeks after her diagnosis Hattie started the treatment. This treatment is delivered via lumberpuncture, initially 4 loading doses given in a short space of time and then following this every 4 months. At present Hattie’s parents believe this to be a lifelong treatment. Spinraza is a synthetic anti-sense oligonucleotide (a type of genetic material) that enables the SMN2 gene to produce full length protein, which is able to work normally. This replaces the missing protein, thereby relieving the symptoms of the disease.

Along with the treatment, Hattie requires regular physiotherapy to prevent her muscles from tightening and to improve her strength and mobility. She also requires several pieces of equipment to aid in this including a standing frame and a wheelchair to enable her to be independent around the house and outside.

The funds will help Hattie’s family pay for additional physiotherapy and equipment to support her gross motor development. Currently the NHS do not provide wheelchairs to under 5s so Hattie’s parents have bought Hattie her wheelchair.

Hattie’s parents would also like to spread awareness of SMA. 1 in 40 people unknowingly carry the gene. It is the number 1 genetic killer of infants and young children. When 2 carriers of the SMA gene have a baby they have a 25% chance of giving the child SMA. At present there is a petition to go to Parliament to request that all newborns are screened for SMA.

Despite all of Hattie’s struggles, her infectious smile and cheeky personality shines through.

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Cheyne Phillips 
Grimsby, UK