Thursday, December 7, 2023

Blog: Rare Disease awareness

Health Blog

By Abbie Maguire

NO disease is ever rare when we recognise it in unity – it is not a cure, not breakthrough, not a fatality statistic, not an outbreak, that joins sufferers and their supporters of a disease together – the very fact of its existence is enough for individuals all over the world to add volume, strength and courage to the fight against it.

Rare diseases affect 350 million people worldwide. Figures from 2009 show there are between 6,000 and 8,000 rare diseases, with only a third of patients living to see their fifth birthday. 80% of these rare diseases are found to have genetic origins, but only 20% of all rare diseases, most of which are chronic, progressive and degenerative, have a known cure.

It is important we remember people suffer with disorders and conditions beyond those we see on television, read about in the paper, and ones we tragically experience in reality. Not all of them are visible, not all of them are widely researched, and most of them, even in our modern age of medicine, aren’t even fully understood. In spite of its obscurity, for most people with a rare disease, living with their disorder has become a part of their lives – a rarity that becomes something very normal.

Charities and Associations are fantastic examples of eradicating suffering in silence. At the Association for Glycogen Storage Disease UK, all of our National Coordinators have been formally or informally diagnosed with the disease themselves, or have a close relative/friend with the condition.

I have the opportunity to work with some terrifically inspiring individuals as one of the National Coordinators for AGSDUK. All of us have deficiencies in our glucose, glycogen and/or ketone levels, and most have a rare metabolic disorder Glycogen Storage Disease caused by a genetic mutation – a condition where fatalities and near death experiences are not uncommon.

Glycogen is a form of converted glucose (which is what the body converts from food for energy), and is stored in the liver and muscles as an energy reserve. Patients with GSD cannot make or store glycogen – a key ingredient the body needs for cognitive processes, movement, breathing, blood sugar regulation, and temperature control.

The most prominent symptom of the disease is hypoglycaemia, which is a medical emergency classified when blood sugar levels fall below 4 mmol/L (most healthy adults can maintain a stable level between 5 mmol/L and 10 mmol.L, depending on how long ago they may have eaten). In severe hypoglycaemia, GSD patients can have fits, experience rapid unconsciousness, go into a coma, or suffer neurological damage (due to a lack of sugar supply being fed to the brain).

For some, their average blood sugar level is only ever slightly above the ‘safe hypo’ margin. Neglecting hypoglycaemia can catalyst the even more dangerous ketoacidosis – the body, starved of a glucose supply, starts breaking down fatty acids that produce ketones: poisonous chemicals that feed the organs acidic blood. Other symptoms of GSD include speech difficulties or impediments, postprandial hyperglycaemia (high blood sugar after a meal, which can leave the sufferer feeling extremely sick), looking deathly pale, extreme fatigue, being extremely thin in appearance and short in stature, dark circles under the eyes, painful long-lasting hicups, leukonychia (white spots on the nails), discomfort on the right side of the abdomen, development issues, and muscle weakness or cramps.

So what can be done to make an impact?

Have a browse online about various rare medical conditions – is a good place to start. These medical conditions will often have specific charities dedicated to them, where you can donate, fundraise or volunteer. Our GSD website is

It’s always a good idea to make yourself aware of what to do when someone collapses, has a fit, experiences pain in their chest or abdomen, experiences significant blood loss, or has a head trauma. NHS Choices and St John’s Ambulance have pages on their website devoted to advice on emergency situations.

If you work in a school or charity, see if you can get in touch with someone with a rare disease and ask if they would be willing to talk to others about their condition – an understanding of a disorder through word of mouth is one of the best ways a cause can receive awareness. This year on 15th September, Jeans for Genes Day takes place – a day when schools and workplaces are encouraged to wear denim in order to raise awareness of genetic illnesses. See how you and your organisation can get involved.

Become a member of your local hospital, where you are likely to meet many patients with diseases you may not have heard of – this can be a very inspiring, very enlightening experience.

It is estimated 1 in 17 people in the UK have been diagnosed with an uncommon condition – if you don’t have one, you probably know somebody that does. Make it your mission like we make it ours to make a difference.


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