By Jos Weale
A former nurse is effectively allergic to the GYM due to a rare condition that sees her body attack her own muscles when she exercises – and even turns her urine black when she gets upset.
Gemma Holtby only discovered she was battling the incredibly rare enzyme disorder when her urine ‘turned black’ and she ‘couldn’t move her body’.
And the rare condition is aggravated by exercise and stress – meaning a visit to the gym can leave Gemma’s body attacking itself.
Even getting upset when her grandfather died caused her urine to turn black again.
The married mum-of-two had to quit her job because of the agonising pain caused by her body which, unable to break down fat, breaks down her muscles instead.
Gemma from Harlow, Essex, must now use a wheelchair and is bedridden for days on end after her shock diagnosis of Very Long Chain ACYL COA Dehydrogenase Deficiency (VLCAD) in 2012.
The mum is now campaigning for what she claims could be life-saving newborn scanning to spot the hereditary illness, which affects just one in 140,000 people.
Gemma said: “I have had this illness all my life but didn’t know.
“I feel like I have the strength in me, but my body just says no. It’s breaking down my muscles.
“Before I got ill I never used to stop. I went to the gym, I was a nurse so I was always on shift work, then I was a mum running around after the kids. I used to be on the go 24/7. I was non-stop.
“I used to love taking the kids out for long walks in the push chair. I never used to sit down.
“Now all I ever do is sit on my bum or I’m on the sofa. I can’t do any of that anymore. It’s very frustrating to go from one extreme to the next.
“It’s a big, big difference. The condition has changed my life. I get really twitchy because on a nice day all I want to do is be out on the go, but I have to stay sat down on the sofa or in bed. It can be really frustrating.
“It’s a completely new life now.”
It was in October 2011, around three weeks after giving birth to her second child, that Gemma started feeling very weak after a visit to the shops, despite getting rest after the birth.
Gemma said: “I felt quite sick and thought I was going to pass out.
“I had to get home and text Adam to come home early because I thought I was going to pass out and needed to go to bed.
“Then I discovered my urine was so dark that it looked black. That was when I knew something definitely wasn’t right.
“At first we thought it was a water infection, but then I started to be in pain and couldn’t move.
“I was trying to be a mum, but I was just so exhausted even trying to carry the children and put them in the car.
“I ended up in bed for two weeks. It was like my head was telling my body to move but I couldn’t, after the two weeks I went to the doctor.”
The retired nurse then underwent a series of tests that revealed she had abnormal liver function and muscle enzyme level which led to being admitted to hospital for fluids.
After being referred to specialists in Cambridge, Gemma was finally told that she suffered from severe VLCAD in February 2012 – and that she had been a carrier of the illness all her life.
She says she must take specialised medication for the rest of her life and use a mobility scooter, as well as follow a low-fat, high-carbohydrate diet.
Now cared for by husband Adam, 31, a former estate agent, she claims her condition is also severely aggravated by exercise and stress.
And any illness can also lead to excruciating muscles pain and days of being unable to move.
Gemma said: “Whenever you’re ill, have exercised, or are stressed, exercised, your body has to work harder and burn more calories.
“But that means my muscles are attacked even more because I can’t convert fat properly.
“The pain is like severe cramping.
“I lost my grandad last year and that was a really bad time, I couldn’t move.
“When it’s bad my urine will go black again.
“On a really tough day I will find it really difficult to even speak to my children when they are telling me about school and things because I’m having to concentrate so much on the pain.
“But my family have been amazing, they are what get me through it. They are my real superheroes.”
And now Gemma is determined to raise awareness about metabolic illnesses, starting with setting up The Metabolic Foundation with the aim to turn it into a charity.
The now-campaigner is also keen to push for early screening for VLCAD to help save any carriers of the mutation that could lead to death if not treated correctly.
And with son Liam also diagnosed as a carrier of VLCAD, she says it’s more important than ever for her to spread the message of this rare heredity illness.
Gemma said: “When they first told me, I had no idea what it was. But then when they started to explain, some things from my life started to make sense.
“I’d always gotten ill quite easily.
“It turns out both my mum and dad are carriers of the mutation and that’s how I got the symptoms so badly.
“Liam is a carrier and has mild symptoms. His legs will hurt when he’s been running about.
“They say it’s unusual as he shouldn’t have symptoms as just a carrier, but there isn’t a lot of research on it at all right now.
“Being ill affected my confidence, but I’ve spoken to people from all over the world through the foundation.
“It allows me to still carry on with the caring I gave as a nurse.
“I’m hoping that we can raise enough money to turn The Metabolic Foundation into a charity and raise money and awareness to help other families like us.”
FACT BOX: WHAT IS VLCAD DEFICIENCY?
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency prevents the body from converting certain fats to energy, particularly during periods without food.
VLCAD is caused by a fault in the gene that provides the instructions to make an enzyme called very-long-chain acyl-CoA dehydrogenase (VLCAD).
This genetic fault causes the enzyme to either not work properly or be missing entirely, which means the body cannot fully break down fat to release energy.
If the body needs to break down fat quickly for example, if you’re unwell, exercising or haven’t eaten for a while, energy cannot be produced quickly enough to meet the body’s needs and substances created when fat is partially broken down can build up to toxic levels in the body.
This can lead to serious problems if not treated quickly, including appearing unusually tired and sluggish, being sick, excessive sweating, rapid breathing, irregular heart beat and seizures.
If left untreated VLCAD can lead to more serious and life-threatening conditions such as respiratory arrest, cardiac arrest, coma and brain damage.
A child will only be born with VLCAD if they inherit a copy of the faulty gene that causes it from both of their parents. The parents won’t normally have the condition themselves because they usually only have one copy of the faulty gene each. This is known as being a ‘carrier’.