Mother hit by rare disease in wheelchair bid

Jane-Louise O'Malley with daughter CJ. Picture: Malcolm McCurrach
Jane-Louise O'Malley with daughter CJ. Picture: Malcolm McCurrach
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A MOTHER diagnosed with a rare genetic disease is raising funds for an electric wheelchair after she was left temporarily paralysed.

Jane-Louise O’Malley, 38, of Penicuik, started having problems last year when she noticed she was struggling to climb stairs and with simple tasks such as holding her hair dryer.

After she collapsed on holiday in Tenerife with her parents, Charlie, 81, Jane, 65 and daughter CJ, 17, Ms O’Malley said she knew something was seriously wrong.

She was sent to the Western General for two weeks of tests but despite not improving was sent home again where life was becoming unbearable.

She said: “I had to stay with my parents in their bungalow because even getting dressed meant I had no energy to pull the straps on my bra or brush my hair.

“I went back to see my consultant and they sent me to a rehabilitation hospital to try to get my muscles working but I got worse so they sent me back to the Western General where I became paralysed.

“I could not eat and the nurses would have to come and move me so I would not get bed sores.”

Ms O’Malley endured six months in the hospital where she nearly died after suffering a pulmonary embolism. She was eventually diagnosed with multiple acyl-CoA dehydrogenase deficiency (MADD).

Ms O’Malley explained: “It’s so rare that only one other adult has it in Scotland. They said I had been born with it because it’s an inherited disease so if both parents have the gene there’s a 25 per cent chance of their child having the disease. Normally it’s prevalent in babies and it’s fatal so now I don’t know about my future.”

The condition has left her with the risk of falling into a diabetic coma, pins and needles in her feet, bad eyesight and dependent on a wheelchair.

She has to take 30 tablets a day to stay alive and is being seen by a paediatrician because of the rarity of the disease.

But despite this, Ms O’Malley is still trying to look on the bright side and is now raising money to buy a £2300 electric wheelchair.

She has already raised more than £900 after writing a blog and holding events organised through the Facebook page ‘JLO’s wheels’.

Neighbourhood Links Co-ordinator, Lorraine Dilworth, is helping Ms O’Malley and her family as part of the British Red Cross project which usually supports the elderly.

She said: “Jane is absolutely fantastic. She has a very debilitating condition. She could not even lift a telephone to her ear so what she was going through was appalling.

“An electric wheelchair would make such a difference to her life so she can become as independent as possible.”

If you would like to donate visit the Facebook page or tweet @JLOsWheels

A dangerous heritage

Multiple acyl-CoA Dehydrogenase Deficiency (MADD) is a very rare genetic disorder, which is also sometimes known as Glutaric Aciduria Type II.

It’s an autosomal recessive metabolic disorder, meaning it hinders the body’s ability to use proteins and fats for energy.

If these proteins and fats are not processed they can then build up, leading to a dangerous chemical imbalance called acidosis.

The condition is genetic, with a person having a 25 per cent chance of having the disease if both parents have the affected gene.

It is normally diagnosed in babies and usually fatal, with most not living past the toddler age because it causes a sudden metabolic crisis where the acidosis and low blood sugar causes weakness, behaviour changes, and vomiting.

Other complications include enlargement of the liver, heart failure, and a characteristic odour resembling that of sweaty feet.

It is still not clear why it appears in adults.