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Debbie Hughes: Rapadilino Syndrome

“When Becca stopped taking CBD, the pain in her wrists became much worse due to her Rapadilino, that’s when we realised how much it relieved the pain she was in.”

Debbie Hughes has watched her daughter Becca and son Adam, struggle with pain caused by a rare syndrome, rapadilino for most of their lives. Becca and Adam are two of three cases in the UK and the Hughes family are just one in 25 families in the world with the syndrome. Rapadilino has multiple characteristics such as underdevelopment or absence of the bones in the forearms and the thumbs, the kneecaps (patellae) can also be underdeveloped or absent, an opening in the roof of the mouth (cleft palate); a long, slender nose; and dislocated joints.

Many infants with Rapadilino syndrome have difficulty feeding and experience diarrhoea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.

Becca had struggled with severe pain for around two years and when she was prescribed pain killers from the hospital, they did little to nothing to relieve the pain. Debbie said: “The syndrome is quite rare so there’s not much research on treatment or how to manage it. We’ve been in and out of hospital with Becca, trying to find something to help manage her symptoms. Like any mum, I just wanted to take the pain away, so I was always researching therapies, medications and treatments for rapadilino.”

Debbie explains how she came across CBD: “We first started looking into CBD when my sister raved about the benefits, who had previously used it to calm her dog. I didn’t know much about it to be honest, I did some research and once I realised it wasn’t going to give Becca a high, I thought it would be worth a try.

“We started Becca on the 25% CBD Oil, on 2-3 drops a day and we didn’t see much difference at first, but Becca seemed much brighter in herself. Over lockdown got out of the habit of taking CBD and her symptoms quickly returned. We realised just how much it was relieving her pain and making her feel generally better in herself. Becca was able to stand up for longer, walk a bit further and enjoy coming for walks with the dogs again.”

Becca’s mum said: “Clare from Synerva has been so helpful throughout our journey with CBD, I got in touch on Facebook and she helps me find the right product for Becca. She also gave us advice on how much to take and when to take it which was great. We’re so pleased with Synerva and we’re delighted it’s helped Becca – we’d urge anyone thinking about trying it to give it a go!”

Debbie says CBD has made a marked improvement to Becca’s everyday life, helping her to manage her pain, have more energy and generally improved mood – enabling her to join in with family activities and get back to the things she loves.

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