Parents fight to raise awareness of rare disease ‘cluster’

Jessica, the daughter of Rachel Cowley, looked like other 10 -year -old children until she started to seizure.

Now 20 years old, Jessica can’t walk or talk, and Mrs. Cowley is afraid that she will die in the next few years.

“I hope it’s fast when time comes,” Mrs. Cowley said. “But I don’t think it will happen.”

Jessica is one of the “cluster” of the people in the South Wales. Dentatorubral-Pallidoluyya AtrophyOr DRPLA, a known treatment or a hereditary and progressive neurological disorder.

DrPLA was thought to have mainly affected people of Japanese origin and was rare in England until 2007. research He found a relatively high prevalence of the situation in Wales.

DRPLA symptoms may change significantly, but usually include progressive memory loss and personality change, control of body movements, muscle spasms, seizures and psychiatric disorders.

It is caused by a gene defect and has a chance to transfer 50% of a person to his child.

Dr Mark Wardle, a consultant neurologist who wrote the 2007 study, said that DRPLA and DRPLA in Southern Wales were a series of “common founders” that resulted in the “20s or 30s in the 30s”.

“The fact that there is much more cases than the most common founders does not take many generations.”

Mrs. Cowley said Jessica was diagnosed with epilepsy at the age of 10 when Jessica started watching at the beginning.

“We’ve never controlled,” 45 -year -old Cowley from Pontypridd said.

However, when Jessica was 13, Mrs. Cowley said her daughter’s legs started to “give way”.

Previously, the young person who liked to do gymnastics and riding was now fighting to walk.

Im I noticed that he could go up the stairs, Ms Mrs. Cowley said.

“When he lost his voice, I thought he didn’t have this epilepsy symptoms, there must be anything else.”

After “curiosity for years”, after the deterioration of his health, Jessica was diagnosed with drpla in May.

Jessica now uses a wheelchair and completely nonverbal.

“It’s quite scary because it has been going on for the last five to seven years, Ms Mrs. Cowley said.

“I would talk to the counselor and they didn’t know it worsened as it was.

“I think this disease is very rare.”

Ms. Cowley is currently part of a group called Drpla in South Wales, which is currently more than 100 members.

Ms. Cowley said it was a “big surprise” to find out that other people in the area are facing the same challenges.

“We’re all connected somehow.

“It’s nice to talk to some and give advice from them, because if I call the GP, they don’t know anything about it.”

Zoe Hoes accepted her eight -year -old daughter Gabriella when she was a baby.

Last year, a member of Gabriella’s birth family was tested positively for Drpla.

The 47 -year -old Mrs. Hoes of CWMBran realized that her daughter had twitched at night and thought she might have symptoms.

“I managed to perform a special test, and it confirmed that he had it.”

He said that “mixing to find information” about the situation.

“It is terrible because there is no treatment and treatment right now.

“You love them very much and you don’t want to lose them.”

Ms. Hoes said the cost of the special test in the “£ 2,000 region”, which it accepts that it is not suitable for many people.

“Many families do not have the money to spend,” he said.

“So they just continue their lives and everyone can meet someone [DRPLA] And in the end they become a caregiver for their wives and children. “

Mrs. Hoes wants to see that more people are tested at a younger age.

“[Parents] We need to be able to make plans for the future of these children, because they will ultimately look at them. ”

Dr wardle started Research Study on Drpla Promotion in Southern Wales After finding a few families “with the situation.

The DRPLA gene, also known as ATN1 gene, is very important in understanding the disorder of the gene.

If the gene expands greatly in more than one generation ,, a person will probably have a more aggressive disease. [their] Parent “, Dr Wardle explained.

He said that the existing generation DRPLA patients experienced “more severe disease” in this way.

“That’s why we suddenly seem to have more patients,” he said.

“When I first found patients with this disease in Southern Wales, he was 50s or 60s.

“Now we have a cluster of patients in their 20s or 30s, and that’s why we see this difference.”

Dr Wardle said it was “very difficult” to identify Drpla, because it was “surprisingly rare” compared to similar conditions such as epilepsy.

“If you don’t have a family history, people won’t even think about it.”

He said that raising awareness about Drpla was “really good” because it would make people think before.

“Good access to neurological services and genetic tests is really important to move it forward.”

However, Dr Wardle said that it was “moral and ethical problems” by testing people under 18 years of age.

He said that people should be mature enough to understand the results of being tested for “life -changing” situation.

“If you are six or 12 years old, you can’t do it.

“I know a patient who is scanned for this disease.”

Dr Wardle said it would be “very different” if treatment was available.

“I think we’ll change our approach because we want to define these patients early.

“But this would be on the basis of early access to the treatment we don’t have right now.”

Families affected in Wales, clinical research for a potential treatment in the United States “hope” said.

However, Dr Wardle said that these trials could “increase expectations” more damage to families.

“There is a pipeline to prove security and then prove the activity, and you should do it correctly,” he said.

Dr Silvia Prades is a research manager at Ataxia UK and Curedrpla Charity.

He is currently working with a team of treatment on two people living with DRPLA in the USA.

The Prime Minister said that early results were positive with a young child, one of the people in the hearing, and showed signs of healing.

“Now he can walk a few steps without helping.

The second patient, a woman in her 30s, had developed more in the situation, and Dr Prades said that any improvement was “less pronounced”.

He said that the treatment effects may “change”, but the results felt “encouraging”.

Dr Prades said he understood why people want to test at an earlier age, but this was a “personal choice”.

“Some people will feel strengthened as this information. Others will feel a big burden,” he said.

Dr Prades said that the “combination of many different factors” can explain why the drpla prevalence of DRPLA seems higher than the rest of England in Southern Wales.

“Perhaps access to genetic tests has developed. Also, people may be more aware of the situation.” He said.

He continued: “In addition, the stigmatization on genetic conditions may be being removed.”

Recently, with his team, there was a “increase” in the number of “interesting” families, because people have experienced symptoms of drpla at an earlier age.