Ben Ryan faces a long, hard journey to recovery after being struck down by a rare genetic disease. His family wants to increase awareness of his condition in a bid to help others and raise funds to help his recovery. MICHELLE BLADE reports
Power station worker Ben Ryan has Wilson’s Disease, an accumulation of copper in the body and is undergoing treatment at the Royal Preston Hospital.
Ben , 28, has dystonia (is rigid), has lost his speech and has a feeding tube.
His family is fighting to deal with the very rare and debilitating disease Ben has.
Ben’s sister Samantha Panchal, 41, who lives in Southend, travels home every month to visit him.
She said: “Ben joined the power station when he was 16, he was a hard worker and a fit and healthy lad. He has a two-and-a-half-year-old son called Jacob.
“His personality changed unexpectedly and he fell out with people.
“We put it down to stresses of the job or having a new baby. Doctors thought it was depression or anxiety.
“He went for various tests on his adrenal glands and cortisone levels.
“He came to see me in Southend and he had developed a tremor. At this time we wanted a private consultation.
“On August 22 last year he was admitted to the Royal Preston Hospital. He had a private neurological referral and they said it could be Wilson’s Disease or early onset Parkinson’s Disease.
“His diagnosis was confirmed in September 2016.
“They could see deposits of copper in rings in around the cornea of his eyes, a sign of Wilson’s Disease.
“It is seriously debilitating and heartbreaking to watch. You are in this body that doesn’t work. Ben has been undergoing treatment for Wilson’s, which affects one in 33,000 people worldwide, in the form of a drug called Penicillamine which is one of two drugs used to treat the condition.
Penicillamine is harsh but it is the best drug to get the copper out, said Samantha.
If found early, Wilson’s is completely treatable and manageable.
It is thought Ben, who has neurological Wilson’s, has had the genetic condition since birth but was only diagnosed when the levels of copper accumulated in his brain, which caused his symptoms.
Now Ben’s family including dad John, mum Linda and siblings Samantha, 41, Vicky, 35 and Dan, 27, are not only hoping to raise awareness of Wilson’s Disease, but are raising money for his rehabilitation, care and recovery. The family recently held a fun day at The Duke of Rothesay in Heysham, which raised just over £1,000.
Silicone wristbands sold on the day raised £320 for the Wilson’s Disease Support Group. Samantha said: “The fun day was Dan’s idea, he said I bet if we all pulled together we could raise some money. I did a race night, my little boy sold cakes, Ben’s mates had a football match.
“All funds raised at these events go towards Ben’s future care. The NHS can’t provide private neurological rehabilitation. The NHS have been amazing but they can’t give him the 24/7 care he needs. We can feed him yoghurts and soups, even with his feeding tube in, talk to him, crack jokes and keep things lighthearted.
“However, Ben can’t even get out of bed at the moment.
“He has a long road of rehabilitation ahead of him. A new wheelchair is being delivered this week. There is a hyperbaric chamber in Middleton at the holistic centre which we may use.
“Ben will turn a corner and start to improve, we just don’t know when but we are definitely going to beat this. We’ve got to help keep the old Ben. It is shocking but he can recover from it. If it just helps one person by raising awareness that’s great.”
Families of those diagnosed with Wilson’s Disease often find they have very little support. Samantha joined the Wilson’s Disease Support Group, which is UK based.
Samantha said: “Through the support group I found a lady called Valerie, so I messaged her. They have been an amazing support.”
The silicone wristbands are £2 each and all proceeds go direct to WDSG – the Facebook support group can be found at “Wilsons Disease Support Group - UK” .
You can donate for Ben’s rehabilitation and recovery at https://www.justgiving.com/crowdfunding/benryan.
What is Wilson’s Disease?
Wilson’s Disease is a rare genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson’s Disease affects about one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation. Small amounts of copper are essential for the body to maintain its life functions. Copper is present in most foods, appearing in various quantities and this depends on the food type, location where it is grown and how the food is processed. Most people get much more dietary copper than they need and healthy people excrete the copper they don’t need. However, Wilson’s Disease patients cannot excrete copper.
What are the symptoms?
The symptoms usually appear during adolescence, but symptoms have presented as early as five years and as late as 50 years. Patients may present with a wide spectrum of symptoms.Patients may have jaundice, abdominal swelling, vomiting of blood (a telltale sign of oesophageal varices caused by liver damage) and abdominal pain. They may have tremors or chorea (coordination difficulties such as with handwriting), gait disturbances, balance disorders, stiffness or rigidity (dystonia), difficulty walking, talking (slurring) and swallowing, and may drool. They may develop all degrees of mental illness including homicidal or suicidal behaviour, depression and aggression. Women may have menstrual irregularities or multiple miscarriages. No matter how the disease begins, it is always fatal, if it is not correctly diagnosed and treated.
What about the liver in Wilson’s Disease?
The first part of the body that copper affects is the liver. In about half of WD patients, the liver is the only affected organ. The physical changes in the liver are only visible under a microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson’s Disease hepatitis.
What about the brain in Wilson’s Disease?
The excess copper also accumulates in the central nervous system. From a neurology perspective, motor abnormalities which are not clearly and unequivocally explained by a particular diagnosis should prompt the neurologist to consider Wilson’s Disease. Neurological abnormalities are almost always motor and not sensory disturbances. Kayser Fleischer Rings (or Sunflower Cataracts) in the eyes are invariably present when there are neurological symptoms in the patient and these are normally a tell-tale sign.
How is it Diagnosed?
Diagnosis is made by relatively simple tests which almost always make the diagnosis.
The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease.