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Glycogen Storage Disease: Rare Diseases Day ASK ME ANYTHING


Hi all,
As next month is Rare Diseases Day, I thought I’d do an AMAto raise awareness for my disease: Glycogen Storage Disease Type 0. So ask meanything J
This is a brief description of the condition:

GSD0 – also called GlycogenSynthesis Deficiency – is caused by an inherited error in the GYS1 or GYS2enzyme - a defect that prevents the liver from making glycogen. Glycogen is aform of converted glucose (which is what the body converts from food forenergy), and is stored in the liver as an energy reserve. Patients with GSD0cannot make glycogen – a key ingredient the body needs for cognitive processes,movement, breathing, blood sugar regulation, and temperature control. It is acondition that, when poorly managed or severe, can prove fatal.
The most prominent symptom ofthe disease is hypoglycaemic, which is a medical emergency classified whenblood sugar levels fall below 4 mmol/L. Most healthy adults can maintain a stablelevel between 5 mmol/L and 6.5 mmol.L (depending on how long ago they may haveeaten), but a patient with GSD can drop to as low as 1.2, which can catalyseneurological damage; for example, my average blood sugar before hypoglycemia isonly slightly above the ‘safe hypo margin’ at a 4.3 mmol/L. Those suffering ahypoglycemic attack experience symptoms such as unconsciousness/coma,dizziness, weakness and confusion, feeling hungry, a tingling sensation in thefingers or lips, sweating, sometimes even death. Hypo unawareness isparticularly frightening; when a GSD patient receives no warning that theirblood sugar is too low, they will just collapse suddenly.

When hypoglycemia goes untreated, it can lead to the evenmore dangerous ketoacidosis. This is when the body has used up its glucose, andstarts breaking down fatty acids which produce ketones – high levels of whichcan cause parts of the body to stop working normally, and cause the blood tobecome acidic. It is common for GSD0ers to experience this in the morning,after their body has been deprived of glucose overnight, and has the slightlybizarre trigger sign of the sufferer smelling of peardrops or nail vanishremover (but this cannot be smelt by the sufferer, only those around them). Itis extremely painful.

Other symptoms include speech difficulties orimpediments, postprandial hyperglycemia (high blood sugar after a meal, whichcan leave the sufferer feeling extremely sick), looking deathly pale, beingextremely thin in appearance and short in stature, dark circles under the eyes,painful long-lasting hicups, leukonychia (white spots in the nails), discomforton the right side of the abdomen, neurological damage or impairment, and muscleweakness or cramps.
(edited 9 years ago)

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Oh, and the website for anyone who wants to take a look: www.agsd.org.uk
How did you find out you had this?
Original post by OU Student
How did you find out you had this?


I was diagnosed when I was six after I collapsed in school.I was tested for Russell Silver Syndrome because I had a case of ‘failure tothrive’, but it came back negative. They found in a blood test the GSD. Nowpeople are generally diagnosed with DNA testing, but being diagnosed over tenyears ago, so little was known about the disease, it was just an examination ofmy blood and liver J
Reply 4
Avatar for og.east
og.east
12
do questions have to be related to Glycogen Storage Disease? i just want to know why you're typing in that font
Original post by Anna.Karenina
I was diagnosed when I was six after I collapsed in school.I was tested for Russell Silver Syndrome because I had a case of ‘failure tothrive’, but it came back negative. They found in a blood test the GSD. Nowpeople are generally diagnosed with DNA testing, but being diagnosed over tenyears ago, so little was known about the disease, it was just an examination ofmy blood and liver J

1. how are you treated?
2. how different is your day to day activities?
3. Will you have the same lifespan as a 'healthy' person?
Original post by og.east
do questions have to be related to Glycogen Storage Disease? i just want to know why you're typing in that font


It came up this way J
Original post by Anonymous
1. how are you treated?
2. how different is your day to day activities?
3. Will you have the same lifespan as a 'healthy' person?


I’m treated in various different ways. Firstly is ensuring Ihave a steady flow of pure glucose through the day, so I carry around GlucoGeland GlucoJuice at all times. I also have to have Naproxen for my muscle cramps.Secondly, I have to keep my diet in check – I can’t eat things with complexsugars, and have to have lots of carbs and protein in my diet. I also have todrink uncooked cornflour mixed with water, as this is a slow-releasing carb.Lastly, I have to monitor my blood sugar, so I wear a continuous glucosemonitor, which are rows of needles under my skin, that sounds an alarm when I’mabout to collapse. I have to test for ketones also.
With regards to everyday life, I cannot play sports, and getout of breath/loose energy very quickly just walking around. I can’t travelvery far and always have to have someone cross the road with me, because I cansuddenly collapse in the middle of the road, for example. It takes me an hour,at least, to get out of bed, and I spend a lot of time in hospital. I can’t eatvery much, or stomach rich foods, and having a little cold makes me very ill. Ifrequently have to leave university classes because I’m about to collapse. Ialso have to avoid very hot or very cold places. And I live everyday like it’smy last.
My lifespan is predicted at about 60. It used to be seven,and then fifteen, so I feel quite positive about that J
Original post by Anna.Karenina
I’m treated in various different ways. Firstly is ensuring Ihave a steady flow of pure glucose through the day, so I carry around GlucoGeland GlucoJuice at all times. I also have to have Naproxen for my muscle cramps.Secondly, I have to keep my diet in check – I can’t eat things with complexsugars, and have to have lots of carbs and protein in my diet. I also have todrink uncooked cornflour mixed with water, as this is a slow-releasing carb.Lastly, I have to monitor my blood sugar, so I wear a continuous glucosemonitor, which are rows of needles under my skin, that sounds an alarm when I’mabout to collapse. I have to test for ketones also.
With regards to everyday life, I cannot play sports, and getout of breath/loose energy very quickly just walking around. I can’t travelvery far and always have to have someone cross the road with me, because I cansuddenly collapse in the middle of the road, for example. It takes me an hour,at least, to get out of bed, and I spend a lot of time in hospital. I can’t eatvery much, or stomach rich foods, and having a little cold makes me very ill. Ifrequently have to leave university classes because I’m about to collapse. Ialso have to avoid very hot or very cold places. And I live everyday like it’smy last.
My lifespan is predicted at about 60. It used to be seven,and then fifteen, so I feel quite positive about that J

sounds horrible i'm so sorry :frown:. i hope there will be a cure in the future.
Reply 9
Avatar for og.east
og.east
12
Original post by Anna.Karenina
It came up this way J


how queer.


anyway on topic,

gsd0 doesn't sound like much fun

if you can't do sport, how do you stay fit?

do you know anyone else who has it?

what's your favourite food?
Original post by Anna.Karenina
I’m treated in various different ways. Firstly is ensuring Ihave a steady flow of pure glucose through the day, so I carry around GlucoGeland GlucoJuice at all times. I also have to have Naproxen for my muscle cramps.Secondly, I have to keep my diet in check – I can’t eat things with complexsugars, and have to have lots of carbs and protein in my diet. I also have todrink uncooked cornflour mixed with water, as this is a slow-releasing carb.Lastly, I have to monitor my blood sugar, so I wear a continuous glucosemonitor, which are rows of needles under my skin, that sounds an alarm when I’mabout to collapse. I have to test for ketones also.
With regards to everyday life, I cannot play sports, and getout of breath/loose energy very quickly just walking around. I can’t travelvery far and always have to have someone cross the road with me, because I cansuddenly collapse in the middle of the road, for example. It takes me an hour,at least, to get out of bed, and I spend a lot of time in hospital. I can’t eatvery much, or stomach rich foods, and having a little cold makes me very ill. Ifrequently have to leave university classes because I’m about to collapse. Ialso have to avoid very hot or very cold places. And I live everyday like it’smy last.
My lifespan is predicted at about 60. It used to be seven,and then fifteen, so I feel quite positive about that J


:hugs: That's so difficult then. :redface: Is there any known cure or treatment and how is the disease caused?
Original post by Anonymous
sounds horrible i'm so sorry :frown:. i hope there will be a cure in the future.


Thank you very much :smile:
Has having this disease caused you to have dark thoughts or does it make you strive to be better, to beat it.
Original post by og.east
how queer.


anyway on topic,

gsd0 doesn't sound like much fun

if you can't do sport, how do you stay fit?

do you know anyone else who has it?

what's your favourite food?


I’m not very fit at all really – I’m quite toned because I dostretches in the morning to deal with the muscle cramps, and I walk around myliving room to try and get some exercise. I’m very thin though – my BMI is 16.4because I burn through fat once my body has used up its glucose supply.
I don’t know anyone else, unfortunately – but I hope to meetsomeone with it someday to pass on any advice J
My favourite food is probably mash potatoes – you can mixanything it in. It’s very sad that I find that very cool J
Original post by zhang-liao
:hugs: That's so difficult then. :redface: Is there any known cure or treatment and how is the disease caused?


It’s caused by a genetic mutation, which, when I was six,thought it made me sound like some kind of superhero! The treatment of pureglucose, medication, needles beneath the skin, and fingersticking (drawingblood to analyse blood) only ever mitigates it, and we’re not very close tofinding a cure. I remain hopeful though J
Original post by Anonymous
Has having this disease caused you to have dark thoughts or does it make you strive to be better, to beat it.


It makes me very sad sometimes, because I can’t do normalthings. And I really hate hospitals. I look at people who don’t even realisehow lucky they are that they can just go about their daily business withoutworry. I think the thing that bothers me the most though is when I go outsideand collapse during a lecture – I think ‘people didn’t pay £9,000 to have theirlecture interrupted by me’. I do like to think positive though – I’ve surviveda coma, and I always think how lucky I am to be able to go to university, andto work, and to just be able to sit down and read a book with a cup of tea. Bitsoppy really J
Original post by Anna.Karenina
It’s caused by a genetic mutation, which, when I was six,thought it made me sound like some kind of superhero! The treatment of pureglucose, medication, needles beneath the skin, and fingersticking (drawingblood to analyse blood) only ever mitigates it, and we’re not very close tofinding a cure. I remain hopeful though J


:hugs: I hope they do find a cure for it.

I'm assuming its a genetic mutation caused by recessive alleles right?
Original post by Anna.Karenina
I’m not very fit at all really – I’m quite toned because I dostretches in the morning to deal with the muscle cramps, and I walk around myliving room to try and get some exercise. I’m very thin though – my BMI is 16.4because I burn through fat once my body has used up its glucose supply.
I don’t know anyone else, unfortunately – but I hope to meetsomeone with it someday to pass on any advice J
My favourite food is probably mash potatoes – you can mixanything it in. It’s very sad that I find that very cool J


ha that's not sad. i enjoy mashed potato too.

is there anything the average person can do to improve the lives of people with gsd0?
Original post by zhang-liao
:hugs: I hope they do find a cure for it.

I'm assuming its a genetic mutation caused by recessive alleles right?


Thank you :smile:

It is inherited in an autosomal recessive fashion.
Original post by og.east
ha that's not sad. i enjoy mashed potato too.

is there anything the average person can do to improve the lives of people with gsd0?


I’d say don’t expect too much of anyone with GSD. We tend tobe very slow in movement, and can’t do anything that requires much energy. Ithink it’s understanding more than anything. Anything that can be done thatmakes it easier for us – like taking a lift instead of the stairs – is alwaysappreciated. Being comforting is also nice – it’s not much fun spending lots oftime in hospital. I have a friend who always meets me at the hospital and takesme out for lunch afterwards J

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