Lucian's second chance at life treatment abroad

I'm Lucian's auntie and this is his story, as told by his mum, Samantha..

Lucian is our Rainbow baby but at the age of 8 weeks old was diagnosed with Type 1 Spinal Muscular Atrophy (SMA). For those, like ourselves, who have not heard of this before here's some information on what this is and Lucian's journey so far.. SMA is a very rare genetic condition, it causes progressive muscle wasting and weakness. It may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. Babies diagnosed with SMA under 6 months old have a life expectancy of 2 years.

During my pregnancy I had multiple visits to the hospital due to lack of fetal movement. However I was reassured that there was nothing to worry about and was even told by the doctor that it was my mind playing tricks on me due to losing my son Carson during pregnancy at 29 weeks. I had a planned cesarean with Lucian which all went well but then when he was 4 days old I went to the out of hours as I was concerned that Lucian was sleeping most of the time even through his feeds. But, I was told he was just a happy "lazy" baby and made to feel yet again that this was me being an over protective mother. So we carried on as normal, but something wasn't right he was always quite chesty after a bottle and his breathing was unusual, so another trip to the doctors and this time I was told it was Acid Reflux. A week goes by and I notice Lucian's movements especially his arms, was not moving as they once was. Now after trips going back and forth and questiong is it in my head, my next stop was google. I typed in his symptoms and everything that came up seemed terrifying but all mainly led back to the same thing... SMA. After being up all night crying I called the doctor straight away he was 5 weeks and 5 days and I was told he was hypertonia (low muscle tone) due to not being 6 weeks old yet. So because he's 5 weeks and 5 days don't be concerned but in 2 days when he is 6 weeks then, yeah maybe a reason to be concerned but that would be picked up if it is an issue at his 6 week check. So after going home and researching all night the following day my mother-in-law said that's it, we're going to A+E. I was in such a state and thought this would put my mind at rest. We wasn't there long and the doctor came in and finally someone was listening to me. He said there was no infection, he had low muscle tone and unusual breathing and from there he was admitted straight away at The Grange. Over the next month there was endless tests and eventually we was transferred to our local children's hospital, Noah's Ark. Where at 8 weeks old my beautiful boy was diagnosed with SMA Type 1 with 2 copies. We was told about the amazing new treatment Zolgensma (Gene therapy) so we was transferred to Bristol for the day to undergo tests for this treatment but was refused this treatment as Lucian was too weak to receive this and basically, any parents worst nightmare.. I would have to prepare for pallative care as my son would have no quality of life. Nothing prepared us for this and we asked for other options whilst having the thought in the back of our minds, are we being selfish? But they did give us options, an Oral drug called Risdiplam or Spinraza (a spinal infusion). Risdiplam we could start in a few days and was not so invasive so as a parent this would be the next best option but we needed time to think about it as it was another day of bad news. So after researching we decided the sooner the better and went with Risdiplam as we can start in a few days as they say the sooner the better. After a few days of Risdiplam we started to see a slight gain in his movement. In those 35 days Mam and Dad has intense training on using the lifesaving equipment that my son would need in order to come home, feeding tubes, feeding machines, ventilator, suction machines and just lifesaving techniques should my son need them. Coming home was happy but terrifying and we also needed to isolate to ensure that Lucian caught no infections in order for him to be eligible to Gene therapy as we was still pushing for this. Thankfully at 5 months old he received Gene therapy but we still have a long road ahead. The damage of SMA has already been done and no treatment will undo the damage to his motor neurons and now what we need to do is make every effort to get him as strong as we can to ensure that he has the happiest and most independant life he can.

Not everything can be provided through the NHS and the rehabilitation will be a part of Lucians everyday life and as his parents it is for us to research treatments, specialist equipment, orthotics and therapies which we have to fund privately which is why we are now looking to fundraise.

There is extra treatment available in the UK It is priced at £17000 a month which is astronomical and would on be possible to a millionaire,but with researching the internet we found it 10th of the price in China as parents we want to give Lucian the best possible chance at Life .

Lucian testing out his new wheels

Adaptive pram £5000

Private physiotherapist £125 a hour

Intensive physiotherapy £600

Spinal Brace £4000

Thank you for taking the time to read our story and if you would like to follow our journey on Instagram - Lucianwarriorsmatype1smile2023