Physio to get Raya fighting fit for gene therapy

Hello,

Dan and I feel we are finally ready to talk about Raya's journey.

Our beautiful baby girl was born February 2022. Soon after, our instinct something was not quite right. We were told we were being "silly" by health care professionals and told that nothing was wrong.

We could not give up and so we continued to carry on pursuit of answers about our baby girl.

A year ago in May 2022, genetic tests were carried out and we finally got a diagnosis of SMA type 1.

Raya has since been treated from July 2022 for which Dan and I were extremely happy and grateful for.

SMA is a rare genetic, progressive, neuromuscular condition which causes muscle wasting and weakness. It can affect the abilty to walk, crawl with arm, hand, head and neck movement. Along with breathing and swallowing in need of support.

This requires continuous care both day and night.

Babies with type 1 rarely survive beyond the first few years of life. However outcomes have improved with early diagnosis and treatment.

Raya requires a ventilator for 16 hours a day and has to undergo airwar clearance regularly which involves a suction machine and a special device called a cough assist to clear her lungs.

Due to Raya's weak swallow, she is fed via a nasal tube. All of these processes are what keeps our beautiful girl alive.

Our world completely changed this is our baby and it’s just not fair. I know things could have been different should this condition have been noticed earlier.

Yet we are told how strong we are, we are not strong, just surviving a situation we have no choice about!

Still continuing this constant battle with professionals daily.

Raya currently receives a lumbar puncture every 4 months to administer the drug Spinraza.

Which doesn’t cure sma just prolongs life. The ultimate goal would be for her to receive the one off treatment of gene therapy, which she was supposed have last year but got knocked back. The criteria constantly changes and the goal post moves.

Raya is the most precious little girl who has shown us how to appreciate the most beautiful moments.

We hope to raise money so we can provide our girl with physio and equipment that will help and support her in many ways. One day enabling her to meet the gene therapy criteria.

Sma doesn’t come with a manual it comes with parents who will never give up!

Please help raise awareness of SMA type 1 as this is not routinely screened for in the UK.

If you can support Dan, myself and most importantly Raya by donating that would be amazing and graciously received.

Finally, never give up if you have an intuition about something so precious to you.

Thank you