A former teacher in a wheelchair with a disease so rare it has no name can finally get the diagnosis she’d longed for for decades.
Debbie Schwartz, 47, from Cardiff, spent her childhood visiting doctors in hospitals from Newcastle to London but was told her illness was ‘all in her head’.
Despite declining eyesight, speech, and hearing, Ms. Schwartz completed a degree in biochemistry in the capital and qualified as a science teacher in her twenties.
But just years later, she collapsed and spent 10 months in the hospital. She was unable to walk or work for the next two decades.
Over the years, she has been partially diagnosed with four separate rare conditions, none of which fully explain her symptoms.
Ms Schwartz is now one of the first patients at Britain’s only clinic specializing in unnamed illnesses, where she hopes to get a correct diagnosis once and for all.
The new SWAN clinic, which stands for Syndromes Without A Name, has been set up at the University Hospital of Wales in Cardiff.
Debbie Schwartz, 47, from Cardiff, has a disease so rare she doesn’t have a name, but she may finally get the diagnosis she has longed for
Ms Schwartz (pictured with her father Anthony in Yosemite, California) spent her childhood visiting doctors in hospitals from Newcastle to London, but was told her illness was “all in her head.”
Mrs. Schwartz (her brothers Steven, left, and Simon, right, at Steve’s wedding) is now one of the first patients at the only UK clinic specializing in unnamed diseases, where she hopes to get a correct diagnosis once and for all. to get
What is Mitochondrial Disease?
When a person has mitochondrial disease, the mitochondria in the cells do not produce enough energy. Sometimes they are not very efficient or do not work at all.
There is a huge variety in the symptoms and severity of mitochondrial disorders. It depends on how many cells are affected and where they are in the body.
Each person with mitochondrial disease is affected differently. Each affected individual has a different combination of mitochondria that do and do not work in every cell.
However, there are times when certain body systems are affected in a recognizable pattern and have specific names, for example Alper’s disease, Leigh’s disease, MELAS or MERRF.
The parts of the body that are often affected are those with the highest energy requirements, such as brain, muscles, liver, heart and kidneys. When these systems are affected, mitochondrial disease is usually progressive.
Unfortunately, there is currently no cure for mitochondrial disease.
Treatment is usually supportive and relieves symptoms that may develop, for example treating seizures with medication.
Doctors can also try to make energy production more efficient, using cofactors and vitamins. Examples include Ubiquinone (Coenzyme Q10), Thiamine and Riboflavin.
Some people find that the use of a special diet can help and this varies depending on which part of the energy production process is affected. However, this should only be attempted under the guidance of your metabolic team.
Any metabolic stress on the body, for example a disease, can cause an aggravation or progression of mitochondrial disease. This may be because the cells cannot handle the extra demand.
It’s hard to live in a world where all potential metabolic stress is eliminated. Therefore, it is important to be aware of these risks so that early medical advice and treatment of any disease can be initiated.
It is accessible to adults and children across Wales via a doctor’s referral, with an estimated 150,000 people affected in the country alone.
After raising £430,000 in funding from the Welsh government, it will initially run for two years as a pilot with the aim of reducing the time patients wait for a diagnosis and improving research.
Ms. Schwartz recalls her early struggle with the diagnosis as a child: “I felt like I was disappointing my parents.
“They dragged me back and forth to hospitals in Newcastle and London.
“If an 11-year-old is told the tests show nothing and your parents hear that, there’s no thought that the doctors are wrong because they’ve done all these tests, they’re the doctors, they know.
“So the diagnosis must be that I made it up.
“The responsibility was very much mine and I felt pressured by it. I was in school and I was just a kid. It was difficult.’
Her condition began to deteriorate in her late teens as her symptoms and mobility got worse.
But it wasn’t until she collapsed ten years later that doctors decided something else must be going on.
She said: ‘Then it was decided it wasn’t asthma and I started having a lot of different tests with different doctors.
“They started excited because I was a unique case and found it interesting, but they would lose interest if they did the tests and they still couldn’t come to a diagnosis.”
Ms. Schwartz finally received a partial diagnosis of mitochondrial disease — a group of conditions caused by defects in the power plants of the body’s cells — in 2005.
This affects each person differently and causes symptoms ranging from muscle weakness to impaired hearing and vision.
Mrs. Schwartz has hearing loss, is partially sighted and has no feeling in her hands and below her knees.
Organs with the highest energy requirements, including the brain, muscles, liver, heart and kidneys, are often affected by mitochondrial disorders.
There is no cure for the condition and treatment is usually supportive, such as treating seizures with medications.
She has also been diagnosed with three ‘very rare conditions’: one neurological disorder, another affecting her immunology and the movement disorder dystonia.
Dystonia is the name given to uncontrolled and sometimes painful muscle spasms, which affect all or part of the body.
It can be treated every three months with injections of a drug called botulinum toxin directly into the affected muscles.
Deep brain stimulation surgery — in which a small device that sends electrical signals to the part of the brain that controls movement is inserted under the skin in the chest — can also be performed.
Ms Schwartz now hopes that the new clinic will help her get closer to identifying her underlying condition.
She said, “I hope that with a team of multidisciplinary doctors who see me as one, they can come to one conclusion that it’s one condition rather than all of these separate.”
Experts say up to 6,000 babies are born each year with a disease so rare it has no name.
Ms. Schwartz’s parents, Suzanne and Anthony (pictured) took her to hospitals across the country as a child to receive a diagnosis.
Mrs. Schwartz (pictured with her dog Ellie) finally received a partial diagnosis of mitochondrial disease — a group of conditions caused by defects in parts of the body’s cells — in 2005
dr. Graham Shortland, clinical leader of SWAN, said: ‘Rare diseases are a significant health problem that unfortunately comes with poor outcomes.
‘The impact on patients and their families is significant: the majority of patients who do receive a diagnosis wait an average of four years.
“A diagnosis offers hope and reassurance to families and the aim of the clinic is to shorten the diagnostic journey, improve access to specialist care and support those who continue to wait for a diagnosis.”
It is hoped that the clinic will also be able to advise families on the risks of a child inheriting rare genetic disorders.
Professor Iolo Doull, Chair of the Rare Diseases Implementation Group, added: ‘The SWAN clinic is the first clinic of its kind in the UK and to our knowledge there are no others in Europe.
‘It will be a one-stop shop. You can think of Wales as a very small place or big enough to do important things.
“In this case, Wales has been big enough to do this, which might have fallen under the radar in other places.”