The parents of a newborn battling a rare genetic condition have shared their harrowing ordeal after being told he’s unlikely to live past two years old without costly drug intervention.
When Daniela Marinova fell pregnant with her first child after a two-year-long battle with IVF, she and her partner, Louis Chadwick, were overjoyed.
The stewardess and captain, aged 44 and 42, welcomed plucky tot, Ted, in July 2023 – but only six weeks later, they suffered every parent’s worst nightmare.
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Ted, who had already battled with jaundice and three bacterial infections at this point, started going “limp” and had red blotches over his body, where immediately, he was rushed to the nearest hospital.
While there, he was diagnosed with a rare genetic condition, spinal muscular atrophy, with medics warning the parents that there was a high chance he wouldn’t live past the age of two.
“I felt guilty, as if something we had done caused this,” Daniela, who lives in London, told Need To Know.
“It’s been a rollercoaster of emotions and although we have a wonderful baby boy, who is intelligent, funny and very loving, we’re finding it hard as a family to have any normality.
“Initially, we didn’t think we had much time left and it felt like we were in the mourning process for someone who is still here.
“But now we’ve been given hope due to a one-time treatment option – but it comes at a price.”
The medication, Zolgensma, which targets the genetic root cause of spinal muscular atrophy, aims to replace the function of the missing or nonworking gene, stopping the progression of the condition – but it comes at an eye-watering £1.9 million cost.
Daniela, who gave birth in her home country of Sofia, Bulgaria, initially recalls Ted displaying symptoms such as lack of a strong cry, as well as trouble with sleeping and feeding shortly after being born.
But as they assumed these were typical for a newborn, the family flew to Corfu, Greece to see Louis’ parents in August 2023.
While there, the tot took a serious turn for the worst and was diagnosed with the aforementioned condition, spinal muscular atrophy.
Louis said: “Initially we didn’t understand what was wrong.
“I went to school in Greece, so I picked up from the doctors they were worried about neuromuscular diseases and I hoped that this was a mistake.
“But the realisation started setting in as no other tests were showing problems and then a genetic testing confirmed his condition.
“I didn’t know what SMA was – I thought it was the children’s milk formula – but when I saw information on the disease, my world hit the floor.
“We were beside ourselves.”
Determined to give their baby the best possible chance in life, they started researching different forms of therapy, but quickly realised the high expense involved.
Ted and his family flew back to Sofia, Bulgaria in October 2023 and received the aforementioned costly one-time treatment, which was luckily done for free on the country’s healthcare system.
While his life expectancy has now increased to over two years, the extent past this is still unknown.
To aid success, the family is also shelling out £8,500 a pop for an oral drug, Risdiplam, used to treat the disease, which aims to increase the production of SMN protein, the lack of which causes SMA, which he’ll need for the rest of his life.
In addition, the family has launched a GoFundMe page. Now, in a bid to care for their son, the parents have given up their full-time careers and are fundraising for this monthly medicine, as well as additional treatment, such as intense physio, swim therapy, therapeutic aids, and orthopaedic equipment.
So far, they have raised just over £30,000 out of £50,000.
To spread awareness, they are speaking out about Ted’s condition to warn others of the symptoms to look out for – and in the hopes of finding a cure.
Daniela added: “We’re working around the clock to care for him and without treatment, he wouldn’t have been with us for much longer.
“Thankfully, he’s had the gene therapy which has given us the hope of a longer life for him.
“He has difficulty with movement and it’s unlikely he’ll hit any milestones without more medical intervention – but there’s little-to-no research on the lasting effects of this on children since all medication for SMA is relatively new.
“As he was quite late with his dosing, we’re supporting dual therapy to give him the best possible chance.
“Ted is currently going through physiotherapy and there’s been some improvement, but nothing permanent.
“He is very weak and struggles to hold up his head, as well as swallowing solid food.
“But he’s getting better each day.
“We are grieving for the life we would have had and for the fact there is so much work and luck involved for him to reach each next step.
“We both want to devote all our time and energy to him and while it’s had a huge financial and emotional impact, with such an unknown future, we want to give him the best quality of life.
“Like any parents, we want him to have a long and fulfilling life – all our efforts will go into making that possible.”
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