Lucian's Journey

Lucian is our Rainbow baby, but at the age of 8 weeks old, he 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 that 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 when he was 4 days old, I went to the out-of-hours service 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 overprotective 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 went by, and I noticed Lucian's movements, especially his arms, were not moving as they once did. After trips going back and forth and questioning whether it was 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 old, and I was told he had hypertonia (low muscle tone) because he wasn't 6 weeks old yet. I was told, "Because he's 5 weeks and 5 days, don't be concerned, but in 2 days, when he is 6 weeks, then, yeah, maybe there’s a reason to be concerned, but that would be picked up if it's 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 weren't there long before the doctor came in, and finally, someone was listening to me. He said there was no infection, Lucian had low muscle tone, and his breathing was unusual. From there, he was admitted straight away to The Grange.

Over the next month, there were endless tests, and eventually, we were transferred to our local children's hospital, Noah's Ark. At 8 weeks old, my beautiful boy was diagnosed with SMA Type 1 with 2 copies. We were told about the amazing new treatment, Zolgensma (Gene therapy), so we were transferred to Bristol for the day to undergo tests for this treatment, but he was refused because Lucian was too weak to receive it. Essentially, our worst nightmare: I would have to prepare for palliative care, as my son would have no quality of life.

Nothing prepared us for this, and we asked for other options, while also wondering, "Are we being selfish?" But they did give us options: an oral drug called Risdiplam or Spinraza (a spinal infusion). Risdiplam could be started in a few days, and it was not as invasive. As parents, this seemed like the next best option, but we needed time to think about it, as it was yet another day of bad news. After researching, we decided the sooner, the better, and went with Risdiplam. They said the sooner we start, the better. After a few days of Risdiplam, we started to see a slight improvement in his movement.

In those 35 days, Mam and Dad had intense training on using the life-saving equipment that our son would need to come home: feeding tubes, feeding machines, ventilator, suction machines, and just life-saving techniques should our son need them. Coming home was happy but terrifying. We also needed to isolate to ensure that Lucian caught no infections, which was crucial for him to be eligible for Gene therapy, as we were still pushing for it. Thankfully, at 5 months old, he received Gene therapy, but we still have a long road ahead. The damage caused by SMA has already been done, and no treatment will undo the damage to his motor neurons. 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 independent life possible.

Not everything can be provided through the NHS, and rehabilitation will be part of Lucian’s everyday life. As his parents, it is our responsibility to research treatments, specialist equipment, orthotics, and therapies, which we have to fund privately. This is why we are now looking to fundraise.

There is extra treatment available in the UK, priced at £17,000 a month, which is astronomical and would only be possible for a millionaire. However, through research, we found it at a tenth of the price in China. As parents, we want to give Lucian the best possible chance at life.

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 fund support for 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.