Over £45,000 raised so far in GoFundMe for baby boy diagnosed with rare life-threatening condition ( Spinal Muscular Atrophy)

A staggering sum of more than £45,000 has been raised for a baby boy who has been diagnosed with a life-changing condition.

By Gemma Murray
Monday, 9th May 2022, 1:27 pm

A GoFundMe started by Katriona Mc Quaid from Co Tyrone a week ago says that baby Ezra was born on October 15, 2021 and is "a beautiful third son to Shauna and Ronan McRory".

The appeal adds that everything changed on October 29, 2021 when "Ezra was just 2 weeks old".

"His health visitor had some concerns around his movements and his low tone," it adds.

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Baby Ezra from GoFundMe appeal

"Less than a week later following the quick reactions of his Health visitor, his Paediatrician and Neurologist; genetic testing was completed and Ezra’s Mummy and Daddy Shauna and Ronan received the life changing, heart-breaking news.

"Ezra was diagnosed with Spinal Muscular Atrophy (SMA) Type 1 - a rare genetic condition that is a degenerative neuromuscular disease causing muscle deterioration due to the loss of motor neurons.

"SMA Type 1 severely restricts a child's ability to move and is fatal if left untreated due to breathing difficulties/medical complications.

"SMA Type 1 can effect a baby’s movement, eating, swallowing and breathing."

The GoFundMe appeal adds: "Thankfully we live in an era of modern medicine and in a country where there is funding for treatment for which we will all be so truly grateful for. Ezra received 4 loading doses of Spinraza initially after his diagnosis and on 8/3/2022 he received a very new Gene Therapy called Zolgensma.

"A one off dose treatment that has been proven to replace the gene Ezra is missing.

"However ultimately it is not a cure and there is yet to be any long term evidence available, but at least a glimmer of light and hope in what can only be described as an emotional rollercoaster of a journey to date for Ezra, his parents, siblings and wider family.

"Alongside the treatment Ezra has received, he will need intense frequent therapy especially over the next few years as well as specific equipment and aids to give him the best chance at life.

"It is said that receiving Zolgensma without Specialist therapy is like going to war without weapons!!"

The appeal adds that the reason they have launched a Fundraising page is because "we appreciate the NHS can only do so much".

They say the money raised will go towards:

- private physiotherapy sessions: - Whilst Ezra will receive some physiotherapy sessions with his local community team, it will not be enough. It will take all of the work to help build up Ezra’s mobility and strength as much as possible. There is considerable cost involved with this, as typically private sessions start at £70 per session.

-intense Therapy courses - These are about £1,000 for a week's course and Ezra will have to travel for these to locations; Mainland UK and Italy being the closest. From contact with other families and in doing our own research, these really are a fantastic way to make progress with motor skills.

- Hydrotherapy – a highly effective form of therapeutic exercise. It allows a sense of freedom and a greater range of movements and strengthening, which the weight of the water gives you.

- additional equipment - Whilst we get some equipment funded, there will be special additions we want for him and will need to fund ourselves, which has the potential to be very costly. We also need to purchase home physio equipment to be able to help him practice certain positions comfortably & supportively.

The appeal adds they will also be raising money for the charity SMA UK and the Royal Victoria Hospital Belfast.

"Thank you for taking the time to read through Ezras journey and any donation, no matter big or small will be greatly appreciated," ends the appeal.

What is Spinal Muscular Atrophy? (Taken from NHS)Spinal muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement.

It's a serious condition that gets worse over time, but there are treatments to help manage the symptoms.

Symptoms of SMA

The symptoms of SMA and when they first appear depend on the type of SMA you have.

Typical symptoms include:

- floppy or weak arms and legs

- movement problems – such as difficulty sitting up, crawling or walking

- twitching or shaking muscles (tremors)

- bone and joint problems – such as an unusually curved spine (scoliosis)

- swallowing problems

- breathing difficulties

SMA does not affect intelligence or cause learning disabilities.

Types of SMA

There are several types of SMA, which start at different ages. Some types cause more serious problems than others.

The main types are:

type 1 – develops in babies less than 6 months old and is the most severe type

type 2 – appears in babies who are 7 to 18 months old and is less severe than type 1

type 3 – develops after 18 months of age and is the least severe type affecting children

type 4 – affects adults and usually only causes mild problems

In the past, babies with type 1 rarely survived beyond the first few years of life. But in recent years outcomes have improved with early diagnosis and treatment.

Most children with type 2 survive into adulthood and can live long, fulfilling lives. Types 3 and 4 do not usually affect life expectancy.