The Untold Story of GSD1a: Navigating Life with a Rare Chronic Condition
GSD1a (Glycogen Storage Disease Type 1a) is a rare metabolic condition that affects how the body stores and releases glucose. In this post, I break down what GSD1a actually is — from genetics and symptoms to treatment and everyday living — in a clear, approachable way. I also share my personal experience growing up with GSD1a, how it impacts my mental health, and the routines I rely on to manage it. If you’re researching GSD1a, navigating a diagnosis, or simply curious about life with a rare chronic illness, this is a warm, honest introduction from someone who lives it every day.
GSD1a stands for Glycogen Storage Disease type 1a, a condition I live with every single day. It’s something I’ve always had — and something I always will. The main thing about GSD1a? It’s wildly misunderstood, and for many, it’s something they’ve never even heard of. So let’s dive into it.
Note: Everything in this post took me a while to fully grasp. In fact it still boggles my mind, sometimes. I’m not a medical professional — just someone living with the condition. So I’ll be sharing both a clinical and patient’s view of what GSD1a is, what it’s like to live with it and how it impacts my life.
The Clinical Definition of GSD1a:
GSD1a is an autosomal-recessive inherited metabolic disorder caused by a mutation in the G6PC gene, leading to a deficiency of the enzyme Glucose-6-phosphatase.
This enzyme deficiency impairs the final steps of gluconeogenesis and glycogenolysis, which are the processes that release glucose from stored glycogen, especially during periods of fasting.
As a result, individuals with GSD1a experience severe fasting hypoglycaemia (dangerously low blood sugars) which can lead to other metabolic abnormalities. Source: National Center for Biotechnology Information — Glycogen Storage Disease Type I
I get it though: no one here wants to just read the clinical definition, but if you’re here, it’s because you want to understand what it really means. So what does all this technical stuff boil down to?
At its core, GSD1a is a rare inherited condition, where my body hasn’t been built quite right. The result? My liver and kidneys store sugar (glucose) but can’t release it when I need it the most. This means that, without proper care, I experience dangerously low blood sugar levels. But here’s the thing: I can’t always manage it on my own. I rely on others to help me stay safe and keep my blood sugar stable.
A rare inherited medical condition means it’s passed down from parent to child. For GSD1a, the mutated gene is recessive, meaning both of my parents must carry the gene to pass it on to me. However, neither of them “show” the condition, meaning they’re carriers — each having one normal gene and one mutated gene. This is why it was such a shock and a very confusing time when I was diagnosed. At the time of writing this the prevalence of GSD1a is approximately 1 in 100,000 people. Source & Photo: Metabolic Support UK: Glycogen Storage Disease Type 1a.
Genetic Chances: Affected vs. Carrier vs. Normal
Let’s break it down a bit:
A represents the normal gene (unaffected)
a represents the mutated gene (affected)
Here’s the chances for me:
Option 1: AA — Normal: not a carrier, not affected. Likelihood: 25% (1 in 4)
Option 2: Aa — Carrier: Not affected, but carries one copy of the mutated gene (just like my parents). Likelihood: 50% (1 in 2)
Option 3: aa — Affected: has GSD1a (this is me!) Likelihood: 25% chance (1 in 4)
So yes — I ended up being the low-probability outcome, my parents always said I was extra special, but what’s the probability if I have children? Photo Inspiration: Metabolic Support UK: Glycogen Storage Disease Type 1a
What does this mean for my children?
If I have children, the genetic inheritance pattern would be the same. If my partner is not a carrier of the mutated gene, our children would be carriers, not affected but carrying the gene. However, if my partner is also a carrier (or affected), there’s a chance our child could inherit GSD1a.
Scenario 1: My Partner is Not a carrier:
My partners’ genes (unaffected): AA
Scenario 2: My Partner is a Carrier
My partners’ genes (carrier): Aa
Option 1: Aa — Carrier: Not affected, but carries one copy of the mutated gene. Likelihood: 50% (1 in 2)
Scenario 3: My Partner is Affected
My partners’ genes (affected): aa
The chance of passing on GSD1a isn’t just about the numbers and probabilities; it’s about being informed. Having the knowledge means that if we do decide to have children, we can make well-prepared decisions, understand the risks, and ensure we can support our future children — no matter what the outcome. It’s about equipping ourselves with the right information to provide the best possible care, whether our child is affected, a carrier, or unaffected.
Following on from this, it’s also important to note that genetic counselling is an option before having children. This can help us understand the risks and probabilities in even more detail, and answer questions we may not have considered or fully understand yet. It’s something I would likely consider, so we can make informed decisions for our family. And of course, we could explore other options, such as adoption, if that’s what feels right for us.
When I first found all of this out, my outlook on life shifted. It wasn’t easy at first, but now I see it as something that can either feel like the worst news in the world, or something that I can turn into a gift. It’s all about perspective — and I’ve chosen to embrace it, using my experience to fuel my growth and perspective on life.
Most of the symptoms in people with GSD1a stem from the body’s inability to release glucose from stored glycogen in the liver, which leads to hypoglycaemia and other metabolic imbalances. Since I can’t release glucose from my liver, it leads to low blood sugar episodes that affect my entire body. While every person with GSD1a is different, here are some of the most common symptoms (though not all apply to me).
Hypoglycaemia (low blood sugars): In medical terms, “hypo” means low and “glycaemia” means the concentration of glucose in the blood. My medical team defines, low blood sugars as anything below 4.0mmol/l (72mg/dl).
Hepatomegaly (enlarged liver): occurs when the body can’t release glycogen from the liver into the blood stream. Instead, it builds up, causing the liver to enlarge over time. This was prevalent for me more in childhood than now.
Growth Issues: People with GSD1a often experience slower-than-normal growth because the body prioritises survival (keeping glucose levels stable) over growth. This is why I often appeared smaller in size as a child.
Lactic Acidosis: This is a build up of lactic acid in the blood. Because the body can’t efficiently convert glycogen into glucose, it can cause symptoms like fatigue, nausea, rapid breathing and confusion.
Hyperlipidaemia (high blood lipids [fats]): The body starts breaking down fat for energy instead of glucose, leading to higher cholesterol and triglyceride levels.
Kidney Nephromegaly (enlarged kidneys): Similar to enlarged liver, the kidneys can accumulate glycogen, causing them to enlarge over time, which could lead to complications.
Bone and Skeletal Issues: People with GSD1a can develop Osteopenia or Osteoporosis which means weakened bones that are more prone to fractures. There can also be joint pain or stiffness. Although I haven’t been diagnosed with osteopenia or osteoporosis, when I was younger, my ankles would break or sprain a lot.
Fatty Liver Disease: Fat can build up in the liver, leading to non-alcoholic fatty liver disease (NAFLD), which can cause long-term complications.
Delayed Motor and Cognitive Development: In infants, hypoglycaemic episodes and metabolic stress can cause developmental delays, particularly in motor skills and cognition, due to deprived glucose to the brain.
Feeding Difficulties: People with GSD1a may experience issues like: frequent feeding (eating every few hours). Oral sensitivity (difficulty tolerating certain foods, textures, or the act of eating), poor appetite (yet still have to eat), or even require tube feeding.
Frequent Infections: Due to the metabolic stress, the immune system can be compromised. making it harder for the body to fight off infections
Sources: NHS: Low blood sugar (hypoglycaemia), Moderna Clinical Trials: Glycogen Storage Disease Type 1a (GSD1a), MedlinePlus: Glycogen Storage disease type 1
How this affects my life:
For me, many of the above symptoms were more pronounced in childhood, but with proper management, I’ve moved past some of these issues. However, that doesn’t mean I’m symptom-free. I still monitor my condition constantly, and managing GSD1a looks like this for me:
There’s more information in the below section about how I monitor GSD1a, but managing the physical symptoms of GSD1a requires constant surveillance, which inevitably takes a toll on mental health.
These symptoms are only half the story — GSD1a affects mental health just as deeply, and the emotional impact is just as real as the physical one, and it’s something I’ve had to learn to navigate as part of living with this condition.
What isn’t often talked about, but should be just as much a priority as the physical symptoms, is mental health. People often think GSD1a is only physical — but the mental load is just as heavy. The psychological impact of GSD1a is profound, and here are the biggest emotional and psychological impacts I deal with:
PTSD (Post-traumatic Stress Disorder): GSD1a involves frequent medical interventions, physical strain, hypoglycaemic attacks and emotional stress, which can contribute to PTSD. It’s not just about the physical symptoms, but also the fear, anxiety, and sometimes trauma that come with the condition.
Sleep deprivation: Sleep is a big issue. Many GSD patients (myself included) experience sleep deprivation because we have to wake up during the night to eat or deal with the effects of hypoglycaemia. It’s exhausting and can lead to mood swings and cognitive fog.
Anxiety: Constant monitoring of health, food intake and blood sugar levels can create an underlying sense of anxiety. I’m always hyper-aware of my body’s signals and sometimes, I can feel like something is going to go wrong at any moment, of which I have to be ready to deal with.
Isolation: GSD1a is so rare that is can feel like no one truly understands. I appreciate the people who try, but sometimes it’s hard to explain just how isolating it feels when others can’t see the struggles I face. People often say, “You don’t look sick” and while that’s great, it also means they don’t see the behind-the-scenes work that goes into managing my health.
Fear of the Unknown: When I was first diagnosed, my parents didn’t know what the future would hold. Now that I’m older, I understand the fear they had — and I’ve inherited some of that anxiety (through no ones fault). But as time goes on, I’ve learned to manage my condition and accept it as part of who I am.
Frustration and Exhaustion: The constant reminders — like checking my blood sugars, planning meals, restricting foods — can feel overwhelming at times. It’s second nature now, but the physical and mental exhaustion still takes a toll. The hardest part is when others don’t understand the urgency or seriousness of the situation.
Embarrassment: Explaining GSD1a in social situations can sometimes feel awkward, and I used to be self-conscious about it. But over time, I’ve learned to be more open about my condition — it’s become part of my story, not something to hide.
Overwhelmed: Staying on top of my health can be mentally taxing. Sometimes having to stay on constant alert to stay on track can feel overwhelming, and I struggle to balance that with maintaining a social life or a positive mood.
Living with GSD1a requires constant management, but it’s become second nature to me. It’s a balancing act between keeping my blood sugar stable and managing the emotional ups and downs. Despite all of this, I’ve learned to adapt to my condition, and over time, it’s become part of who I am — not something that defines me, but something I live with.
Out of all the symptoms, whether physical or mental, they come in waves. Some days are harder than others, but most days, I look and feel like everyone else. And while people often don’t see what I go through, I’ve learned to accept myself as I am, including the challenged that come with GSD1a.
If you or someone you know is dealing with a chronic condition like GSD1a, know that you’re not alone. It’s a tough journey, but finding the strength in the struggle make us stronger every day, and one thing that I will always remember, is when a friend said to me.
“God only makes those who are strong enough, deal with sh*t. You’re a lot stronger than you think to be here today”.
For people with GSD1a, managing blood sugar is the cornerstone of daily life. A lot of people assume it’s just about eating, and while that’s a big part of it, there’s a lot more going on.
Living with a rare condition like GSD1a is a daily balancing act, and over the years I’ve learned just how much goes into keeping my blood sugars stable. The body really is amazing.
It’s about timing meals, adjusting based on physical activity, and staying ahead of the curve so that I don’t face the harsh consequences of low blood sugar. There have been days when it felt like a constant battle to keep everything in balance.
So how does treatment look?
First thing I’ll mention is the hospital visits — these have been a huge part of my life. At times, it felt like the hospital was more of my first home than a second one. Thankfully, things are much better now. I only need to go every six months to my General Medicine follow-up appointments and once a year to the Hepatology follow-up appointments. Each department serves a different purpose: one focuses on managing GSD1a while the other deals with the consequences of not managing GSD1a properly in my early years.
Treatment for GSD1a changes over time. It’s different when you’re a baby, a child, a teenager, and finally, an adult. In my early years, it was all about frequent snacking, eating regularly with high carbohydrate intake, and tube feeding. Now, it’s about getting carbs primarily from cornflour and ensuring my other nutrients come from my meal times. Here’s what a typical day looks like for me.
Breakdown of my daily routine (mealtimes):
9:00 am: Breakfast of choosing + 30 mins after completing the meal, 30g cornflour
12:30pm: Lunch of choosing + 30 mins after completing the meal, 50g Glycosade
Managing my blood sugar isn’t just about food — it’s also about the tools and medication I use:
Continuous glucose monitor (CGM). I use the Freestyle Libre 2 plus (though there are other options). CGMs needs to be used with caution since they don’t always provide perfectly accurate readings and can lag behind real-time changes in blood sugars. But the positive side is they alert me when I have asymptomatic hypoglycaemic attacks or situations when I’m unaware I’m having one. This has definitely saved me more times than I can count.
Blood Glucose Monitor Meter. My GP gave me the GlucoRx meter. It’s a reliable, and getting the accessories (like lancets and testing strips) through the GP is much easier than sourcing them myself.
Cornflour. Yes the regular cornflour you use to thicken up sauces and bake desserts. There are several brands, and depending on the person, some work better than others. I’ve tried a few, and while people talk about the Aygo brand from the U.S., I stick with Brown & Polson Cornflour from the UK. I buy it on Amazon, which is super convenient. If I run low and can’t get it delivered in time (rare, thanks to Prime), I use Tesco’s own brand. This releases glucose more gradually over time compared to food
Glycosade: This is a modified cornflour produced by Vitaflo (Nestle health science) with a slower release than regular cornflour. I use this because it releases glucose more gradually over time.
Other medication: I take multivitamins, vitamin D and calcium tablets because of GSD1a’s side effects.
Why Glycosade and cornflour?
Some people with GSD1a just use Glycosade; others just use cornflour. I use both, because they play specific roles in my routine. Regular cornflour is digested faster, which makes it useful during shorter fasts or when I’m more active. Glycosade, on the other hand is digested at a slower rate and provides a steady supply of glucose, which is great for longer periods between meals.
Each meal, my carbohydrate intake is between 10–15g with some protein and vegetables. I also limit my sugar intake to around 2g (whether natural or added).
And here’s the part no one really likes to talk about, but it’s important: Yes, I’m a woman, and yes, I menstruate. One week before my period, and during my period, I need to increase my carbohydrate intake by 5g each mealtime (this includes glycosade and cornflour intake). I didn’t know this for years — and since adjusting it, I haven’t had as many hypos.
All aspects of GSD1a management is perfectly calculated; what people do and how it’s treated depends on the person; occupation, weight, height, gender, ethnic background etc.
How do I manage it all? Honestly, it’s a mix of luck, and a “fake it ’til you make it” attitude. No I’m joking — but seriously, here’s how I keep everything running smoothly:
Alarms: I have 9 alarms set every single day for all the timings listed above. My alarm schedule is like clockwork: 1:00am, 6:00am, 9:00am, 9:30am (just in case I forget to put my 30 minute timer on after finishing my breakfast), 12:30pm, 1:00pm (same reason but for Lunch), 5:00pm, 7:00pm, and 8:00pm.
Timers: I also set two additional 30-minutes timers after breakfast and lunch to remind me when to take my next dose of cornflour or Glycosade.
Prep: For my cornflour and Glycosade, I weigh out everything at the end of the week for the next week ahead. I batch-cook; Ready meals, pre-made meals and takeaways are off the table because they usually have too much sugar or too many carbs. (Sidenote: there is one GSD1a-friendly restaurant I’ve found — Nando’s! I order chicken wings and a side of chips, though I still have to weigh out the chips.)
Support system: I wouldn’t be here without the support of my parents, partner, and the AGSD charity. They’ve been my rock, especially during severe hypoglycaemic episodes, illness, and general day-to-day management. AGSD also provides information and social activities that keep me going.
Liver Transplant; In some cases, a liver transplant can replace a damaged or diseased liver with a healthy one.
Gene therapy; This is a developing area of research and could be a game-changer for GSD1a patients. Although it’s still in progress, the studies so far look promising and could improve quality of life for people with GSD1a in the future.
Living with GSD1a requires constant vigilance, but with the right treatment, tools, and support system, it’s manageable. It may not be easy, but it’s become my way of life, and I’ve learned to adapt. If you or someone you know is dealing with GSD, know that you’re not alone, and there is always support out there.
Living with GSD1a and what that means to me
Living with GSD1a shapes every part of my life — from the way I plan my day to the way I see myself; it has taught me the importance of patience, persistence, and adaptability.
It’s not always easy, but I’ve come to realise how strong my body and mind have become because of the way I’ve learned to manage this condition. While it’s tough, I wouldn’t change the life it’s given me.
Living with a rare condition means constantly learning how to advocate for myself and explain it to people who might not understand. I won’t lie — this can be draining and annoying but it’s necessary for my safety. When someone actually takes an interest, because they want to, not because they have to, it makes the world of difference.
I always liked proving people wrong and being the woman who “beats all odds” because that’s what my whole life has felt like. This really hit home when I moved away for university.
My mam and I were both worried and we had so many conversations about it. The original plan was for me to live at home and commute to a local university, but after a lot of talking, we realised that if I didn’t move away then…. When would I?
So I did it — with a lot of planning — and it felt like a huge achievement. It gave me a massive confidence boost. I remember feeling so proud, and I’ve never looked back since. In fact, I keep asking myself, What can I do next?
That move taught me that independence doesn’t mean doing everything alone — it means learning what support I need and how to manage things safely.
Of course, there are days when I’m brought back to reality of ~I have GSD1a~ and things don’t go as smoothly. On those days, I’m reminded of how much attention this condition needs and how much I still rely on other people. As sad as it sounds, I need those days — they keep me balanced and remind me why I take my routine so seriously.
Every day begins at 6am, wake up cornflour then either a) get ready for work or b) go back to sleep for another two hours before making breakfast. Some mornings are easier than others. If I haven’t had a good night’s sleep, my blood sugar can be off right from the start. But I’ve learned to expect this, my house is full of snacks and emergency foods for exactly these moments.
I have to be very strategic about what I eat and when. I know that certain foods can cause my blood sugar to spike, while others might leave me feeling lightheaded or dizzy.
I’ve become an expert at balancing meals and snacks to keep myself on track and if you want more information — or recipe ideas I actually use — let me know. I’m more than happy to write a post about it.
Travelling is a whole different challenge. I don’t travel abroad unless I have to, mostly because it’s always interesting going through security, and the thought of being stuck in another country where no one speaks my language genuinely terrifies me. Doctors rarely know what this condition is, so if I need help, it would be very difficult to get that message across.
I do still travel — I still have to live a good life — this topic is not a fear, it’s just risk management, and I never do it alone all we need to do is preparing. I have to carry extra snacks and make sure I have access to food that’ll keep my blood sugar stable. I always check hotels beforehand and hope they have a fridge in the room (which often increases cost), and I check what nearby stores and restaurants are around so I know where I can eat or get what I need. It adds a layer of complexity that most people don’t think about but it’s feasible.
Living with GSD1a will always be complicated, but I refuse to let is stop me from living my life to the fullest. Despite the challenges, I’ve learned to build a life I love — just one that takes more planning than most. And that’s okay — my life just has a different rhythm, and I’m learning to embrace that.
GSD1a is complicated, and it’s something I live with every day — but it’s only one part of who I am and it’s no longer something that limits my life. It’s just one part of my story.
Living with it means navigating symptoms others may never see, and managing a condition that demands strategy, patience, and resilience. It’s not easy — but it’s absolutely possible.
If you’re living with GSD1a or any rare condition, please know this: you are stronger than you realise, and you are not alone in this journey. Remember: “God only makes those who are strong enough, deal with sh*t. You’re a lot stronger than you think to be here today.” There is support out there, and you deserve every bit of it. Keep advocating for yourself, keep asking questions, and keep showing up one day at a time.
This space is for you. If you feel comfortable, share your experiences in the comments. Your voice matters here.
I welcome any feedback, notes and discussion. See you next week about ADHD. I hope you have a lovely day and week.
Link to blog on medium: https://medium.com/@scatterlight.gsd/gsd1a-105945b82e6c
