Mum’s year of hell after being struck down by rare genetic disease


A Scots mother has told how she was suddenly paralysed by a genetic disease so rare only one other adult in the UK suffers from it.

Jane-Louise O’Malley, from Penicuick in Midlothian, spent six months in hospital, endured agonising operations and has been left wheelchair-bound as she battles the rare illness.

After months of tests the 38-year-old only found out in January this year she had Multiple acyl-CoA Dehydrogenase Deficiency (MADD).

Jane-Louise hopes to get an electric wheelchair
Jane-Louise hopes to get an electric wheelchairShe said she felt so depressed “at a few points I said to God help me or take me”.

Friends and family are now trying to raise money to buy an electric wheelchair for the former payroll assistant, who still faces an uncertain future and suffers from “constant pins and needles” in her legs.

In January last year Jane, who was healthy apart from a broken ankle she had suffered seven years ago, went to her GP.

The mother-of-one said: “I was struggling to climb stairs and I was unable to hold the hairdryer.

“I went to my GP and got blood tests, I knew something was wrong.”

Jane-Louise was asked to give up alcohol as the tests were carried out but doctors were unable to pin down the problem.

Her illness came to a head during a week-long holiday in March 2013 in Tenerife.

She said: “I collapsed trying to board the bus, I couldn’t lift my leg.”

Despite managing to continue with her holiday with her parents and 16-year-old daughter, Jane-Louise was admitted to A&E on coming back to Scotland.

Medics initially believed she suffered from proximal myopathy, a muscular disease, and she was sent for rehabilitation at Astley Ainsley hospital in Edinburgh.

She said: “They did various tests. I got sent to the Western general hospital (in Edinburgh) and and deteriorated even more.

“I was completely paralysed and couldn’t move from my bed.”

Jane-Louise’s CK levels, which measure protein levels in the blood, were found to be at 9,000 – 90 times higher than the normal amount.

She said: “They took me to the operating room for a muscular biopsy and it was the most excruciating thing ever.

“They couldn’t use an anaesthetic on the muscle because it might affect the results.”

She was sent back to Astley Ainslie for more rehabilitation but later suffered a pulmonary embolism, a blood clot in her lung, which she was “lucky to survive.”

After eventually being released in October Jane-Louise was diagnosed in January with MADD, which is normally found in children and affects the body’s muscles.

She was told only one other person in the UK has the disease in adulthood.

She said the lengthy ordeal left her depressed: “At a few points I said to God help me or take me because I couldn’t take any more.

“I wished I was dead and I didn’t want to live like this.”

The rare disease left her almost completely paralysed
The rare disease left her almost completely paralysed

Her daughter, CJ, has helped her cope with the illness, which means she must now use a wheelchair.

The 38-year-old said: “I’ve got constant really severe pins and needles in my foot. It feels like my legs are extremely heavy.

“I have to take hundreds of tablets.”

Family and friends are now trying to raise around £2,000 for an electric wheelchair for Jane-Louise, and are holding a wine tasting night in Penicuick Miners club on 5 April.