Jacob James

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Hi Everyone,

I am Jacob, also known as JJ. I am 1 year old and love reading books, playing with my toy cars, and I really enjoy listening to music!

On 27th October 2023, I was diagnosed with Spinal Muscular Atrophy type 1 (SMA 1). This is a very rare genetic neuromuscular condition that causes muscle weakness and wasting due to the loss of motor neurons. It is a degenerative disease, which, if left untreated, is fatal before the age of 2. I am unable to crawl, stand, or walk, and I am unable to make any transitional movements independently, such as going from lying down to sitting up. Due to my weak muscles, I have the onset of scoliosis, which is when the spine twists and curves to the side. SMA affects every single muscle in the body. My intelligence, however, is not affected, and I am a very cheeky, mischievous boy!

I am on daily medication, Risdiplam (Evrysdi), to help my muscles become stronger. With this medication, my interventions, and my family’s determination, I have already achieved milestones that were originally not an option for me. I can now sit for a short while unaided and can eat orally without the need for an NG tube. I am also doing some settling-in days and hope to start nursery part-time in the near future.

Diagnosis

I was born prematurely at 34 weeks and stayed in the hospital for 4 weeks and 1 day. My parents could tell something wasn’t quite right, but everything was put down to me being premature. I had issues with reflux and was struggling to hold down breast milk and/or formula. I had tests carried out to rule out Hirschsprung disease. Once tests were completed, I was discharged home. At home, we had numerous visits to the emergency department when I wasn’t well. As I had been in the hospital for so long, I was seen by a NICU consultant.

Dr. Parr examined me on 6th September and noticed that, even though I was quite upset, I wasn’t kicking. Before this had been pointed out, my parents hadn’t realized the lack of movement in my legs and arms. The doctor ordered a round of tests and said she would see us in a few weeks. However, the nurse was unable to get any blood. They tried in several locations, and I got really upset, so my parents had to put a stop to it.

When we were next seen in Dr. Parr’s clinic, she arranged for a NICU nurse to come and take blood for genetic testing. During this time, she noticed that my tongue was flickering and asked my parents if they had noticed. At the time, they hadn’t, but they did after this.

On 23rd October, my parents made lots of phone calls to chase up the outstanding results. On 27th October, they received a phone call to come into the clinic. They received the shocking news that I had SMA type 1. From that point, they went into fight mode and have been fighting with great determination to ensure I get everything I need and am entitled to.

It was extremely hard for my mum and dad to accept the news. They didn’t expect this to happen to their child. They felt like they were stuck in Groundhog Day. Every day, they get up, put on a brave face, and make sure my big sister and I are happy.

My family is extremely grateful to the team who helps look after my care in the hospital and in the community. However, I will require a lifetime of physiotherapy, hydrotherapy, specialist equipment, modified vehicles, and home adaptations to help me be independent and live the best quality of life. Unfortunately, this is something that the NHS is not able to fund.

My parents are raising money so that I can reach my full potential. It is really important that I have weekly physiotherapy, as it allows me to get stronger and restore movement. This helps me to have more independence and will allow me to do more.

My parents have provided a breakdown of how your donation will be used:

• Private physio at 1 session per week - £3,380 annually (£65 per 45 minutes)

• Private hydrotherapy at 1 session per week - £3,640 annually (£70 per hour)

• Private orthotics: I urgently need a more advanced, supportive back brace that is not provided by the NHS to prevent scoliosis from progressing. The cost of this is £3,000 and will need reviewing every 6 months.

• Private intensive therapy with Swim Lab - £2,000

• Private 3-week intensive therapy at the renowned Napa Centre - £5,175

• Deposit for a vehicle adapted to accommodate a wheelchair - £10,000

• Equipment to meet my needs, e.g., specialist buggy, wheelchairs, etc. My next wheelchair will cost £2,500

Here are ways you can help:

Donate: Any amount you can give will make a difference. You can donate via [fundraising platform link or bank account details].

Share: If you’re unable to donate, please share my story with others who might be willing to help.

Support in Kind: If you have access to medical equipment, therapy resources, or other assistance, it could make a world of difference for us.

My mummy and daddy have set up this page. Please help us have a chance of hitting new milestones. Please donate what you can. Mummy is documenting my journey on Instagram: @jacobs_sma_journey

Thank you for all your support.

Jacob’s Family

X X X X

7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover our core operating costs.

If we raise insufficient funds or surplus funds, then the funds will be used, if appropriate, to support our child’s needs in accordance with Tree of Hope’s charitable objects. If, in those circumstances, we are unable to use all or part of the funds for the benefit of our child in accordance with Tree of Hope’s charitable objectives, then any funds that cannot be used will be transferred to be used for the general charitable purposes of Tree of Hope.