Mum’s heartbreak at watching sons in ‘unimaginable pain’ from rare disorder

A mum who cares for her two sons for more than 250 hours a month has spoken of her “heartbreak” at watching them in pain.

Joanne Mawdsley-Duckworth’s sons William and Thomas both have a life-threatening and rare genetic disorder. Congenital disorders of glycosylation (CDG) type 1A has resulted in the nerves in 27-year-old William’s arms and legs dying.

The mum, from Ormskirk, has watched William’s condition deteriorate over the past few years and can’t “begin to imagine the pain” he is in. The life-threatening condition impacts the addition of sugar-building blocks, called glycans, to proteins in cells throughout the body.

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The addition of glycans to proteins is critical to the healthy function of cells. The genetic condition has taken its toll on his organs and he now has peripheral neuropathy.

Joanne, 50, who works in administration, told the ECHO. “It’s heartbreaking to see your son like that. We saw him overcome so much: we taught him how to walk with sticks, talk, dress, eat and go to the toilet, lots of basic life skills that everyone else can do.

“It took many years of rehabilitation and so to see him deteriorating now is heartbreaking. At one year old, we were told to take William home and enjoy the time we had with him because he wasn’t going to live the next year out.

“We’ve had so many ups and downs but I would definitely say the hardest time for anyone with a condition like this is when they reach adulthood and their body isn’t able to do what it is meant to do.”

Youngest son Thomas, 25, has the same condition as his brother but he was sitting up at six months and initially developing well. However, tragically Joanne started to recognise signs of CDG Type 1A in her her younger son and he was later diagnosed with the condition.

It transpired to be more “life threatening” for Thomas, as at just seven-months-old, he suffered from organ failure and his heart stopped. It was the first of many times Joanne’s beloved sons would need to be resuscitated.

The dedicated mum added: “Both boys were born healthy but in the first few months of infancy, there was an environmental trigger which triggered a genetic response and resulted in irreparable brain injury.

“During the early years, it caused much pain and many times of resuscitation. They were unable to walk or sit and life was extremely difficult. It plateaued for about ten years and then in the last three years, my eldest son, William, started to deteriorate.

“Whereas with Thomas, we haven’t noticed a significant deterioration with him yet, but that is all to come. He has a low bone density so his knees pop out of place and his bones dislocate very easily. I can’t understand what my boys go through and I’m their parent. I can’t even begin to comprehend the pain my eldest son is in and when I look at him my heart breaks.”

Joanne’s sons, who have outlived doctors’ expectations, are entitled to 30 hours of paid care and the rest of the time, their mother takes care of them. She says she counts up to over 250 hours of work per month, caring for their complex needs.

She added: “First and foremost I am a parent and then I got reassigned a title as a carer. When did I lose my right to be a parent? It’s soul-destroying because we don’t want to be known as carers. We want to be known as parents. We are mothers and we are fathers and that is our role – as parents, not carers.”

William and Thomas spend their respite care at Revitalise Sandpipers in Southport. The spend time on days out, which include everything from visits to nightclubs and the cinema.

Joanne said spending time with others who understand them is what her sons value the most.

She added: “To be able to have peace and respite is so important – not only for myself but them. They get to socially interact with people and get treated like people their own age.

“They are surrounded by people who are going through the same thing as them. Services like these are needed because parents are getting burnt out and I’m not getting any younger. If my son lives to the age of 50, I will be 75 and still a carer.”

Rebecca Young, director of strategy, impact and external affairs at Revitalise, added: “It is our absolute privilege to hear families like Jo’s gain so much from holidaying at our Sandpipers Centre. Every year Revitalise helps disabled people enjoy genuinely relaxing and stress-free breaks, and we recognise the enormous benefits respite care offers to them and their carers.