Two families have described their long diagnostic journeys after their sons were diagnosed with Duchenne muscular dystrophy (DMD), a rare genetic condition that causes progressive muscle degeneration.
Storm Filitz's son Grayson was diagnosed with Duchenne muscular dystrophy (DMD), according to multiple reports. Grayson was born in December 2021. According to Daily Mail - Health, Storm Filitz described how Grayson cried a lot as he got older and seemed like a really unhappy baby. She said he consistently missed all his milestones: he sat up at eight months, crawled at one year, took his first steps at age two, and was non-verbal except for 'Mama' and 'Dada'. Storm Filitz raised concerns with nurses and GPs but was told Grayson was a 'late bloomer'. The family sought private medical help in 2023 when Grayson was one year old. A private paediatrician in Windsor said Grayson was hypermobile and a 'late bloomer'. The family also consulted a paediatric neurologist in Lisbon via FaceTime in 2023, who suggested Grayson may be autistic. The Filitz family created a GoFundMe for a treatment costing £3.5 million that is only accessible in America.
Grayson just consistently missed all his milestones.
Kairo Barranco was diagnosed with DMD in September 2024, according to multiple reports. According to Manchester Evening News, Tarnia Richardson described how she noticed Kairo had difficulty jumping when he was two years old. His motor skills lagged behind his peers at school. Tarnia Richardson first sought advice when Kairo was two via a health visitor online during lockdown and was told it was likely delayed development. Kairo's school wrote a letter of concern, leading to a GP appointment and referral to Northern General Hospital in Sheffield in April 2024. Initial tests suggested dyspraxia, but blood tests showed elevated CK levels indicating muscle dystrophy, and genetic testing confirmed DMD. Kairo now depends on a wheelchair when walking for long periods. The Barranco family is attempting to raise £20,000 to adapt their home for Kairo.
He only sat up without assistance at eight months, started crawling at the age of one and took his first very wobbly steps on his second birthday. He was also non-verbal. He only said two words and it was Mama and Dada.
The nurses kept saying to me he was okay and I kept being fobbed off by GPs, who said he was a 'late bloomer'.
I kept saying 'no, there is something wrong with my child'. He seems to always be in pain.
I looked online and found a private paediatrician in Windsor.
The paediatrician looked over Grayson and said he is hypermobile, which is probably causing him to be unsteady on his feet. He had an X-ray for hip dysplasia, which came back negative. So the consultation was basically 'your son is fine, just give it a couple of months and see how he gets on. He is a late bloomer'.
I couldn't wait a year.
I then got hold of my NHS GP to say I am really concerned for my son. I need help. These are the tests needed to check if anything might be going on.
They replied to say most of the tests are not available on the N
When he was about two, I did realise that he struggled to get both feet off the floor. So he did a bit more of a hop motion rather than a jump.
I did notice he was a little bit tentative when he was trying to climb, and he was a bit slower than everybody else, but he managed.
And I just thought, he's just a little bit scared of doing certain things. And I did usually just say he's a bit tentative.
Because we really thought it was dyspraxia which is a bit different. Then to find out it wasn't and to find out the severity of the illness.
It wasn't a relief, it was more of a 'I really wish he had dyspraxia' and he didn't.