Glycogen Storage Disease

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    The VAMPIRE Lab Strikes again!! LOL

    <p>The VAMPIRE Lab Strikes again!! LOL</p>
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    Mama Mia

    What I Didn't Tell My Grandparents About My Kids' Medical Condition

    Here I am alone, on the way back from a trip to Florida visiting my wonderful and inspiring grandparents. You see, they are very optimistic and proud grandparents. But they are old, and I feel sharing with them anything that can cause worries is really not good for them. So I lied. When they asked about my children, I shared with them all the silly things they do. All their interests and their sibling fights. I told them what they want to do when they grow up. What I did not tell them is that my greatest wish is that they will actually get to grow up. I didn’t tell them about their innocent questions with their big eyes looking straight at me. Why is my liver sick? Why do my muscles hurt? Will I ever be able to run fast and be strong like Ben (their older brother)? Why are they checking my heart? Can my heart be sick, too? Will I always have to take cornstarch? Can they make this go away? I did not tell them why I can’t visit them more often, and why bedtime stories are not read because instead we are making sure their little bodies have enough energy to get through the night. I did not tell them when they praised my medical and genetic knowledge that it is from many research papers I have read to understand their disease a little better. So I covered up and smiled and hugged them a lot, knowing life is too fragile and just living the moment. I did tell them how the boys’ eyes glow when they are hugged, how the house is filled with giggles and laughter. I told them about our whispers goodnight. I told them about their unique personalities and about the silly and special things they do. I told them about their dreams and their interest. And now on my way back to Chicago, I am looking back at the so precious moments we got to spend together.


    To the Doctor Who Believed My Illnesses Are Real

    Dear doctor, I am so glad I was able to get an appointment with you. I am not sure you are aware of the countless doctors I have been to that have not known what to do with me, or how to help (if they even believed me at all). I am not sure you are aware of the tears I have shed due to doctors thinking my diagnosis is not valid. I have let other doctors’ beliefs and personal opinions affect me so deeply that I started questioning myself. I am not sure you know what that is like, but I do know that you can and want to help. I know you are the right doctor for me, because you aren’t afraid of me and the complexities that come with my illnesses. You are not invalidating my experiences, and you are not brushing off my symptoms. You are not putting your two cents in where it does not belong. You are not questioning and doubting my diagnosis. You are not giving up. I have had many doctors dismiss me and my struggles. I have had many doctors make comments when they do not truly know or understand my illness. I have heard, “That won’t really affect you unless you become pregnant.” I have also heard, “That diagnosis is likely not valid. You probably received a false positive.” Then there is my personal favorite, “You aren’t severe enough. We can’t help you.” OK. During my appointment, you looked me in the eye and held up the results from my muscle biopsy stating: “ This is real. This is not in your head. You did not make this up. This stuff is real.” I don’t know if you realize just how grateful I was for that moment of genuine reassurance. Yes, the doctor who diagnosed me told me it was real, but when you have subsequent doctors telling you that you are fine, that it is no big deal or that you are making it up, you start to believe it. At that moment, I believed you. I believed in the doctor who diagnosed me. I believed in myself. I heard what I needed to hear said in the right way. Thank you for spending over an hour with me, explaining my illness in a way I could understand. Because let’s face it, a lot of it has gone over my head. I know the very basics and that is about it. Thank you for taking the time to show me results I never saw. Thank you for being thorough, and for embracing patients who have been seen and labeled as a challenge. We need more doctors who do just that. Sincerely, A hopeful patient


    When Weight Fluctuates Due to Chronic Illness

    Weight changes. Something that, more often than not, comes with chronic illness. These weight changes can fluctuate in both directions, and in both directions they can be just as distressing to the person experiencing these fluctuations. As someone who has always been petite/small, and also having dealt with anorexia for seven years, I have recently (within the past year) undergone some changes in my weight. Due to my eating disorder, I do not weigh myself. I avoid the scale like the plague, terrified of what I might see. These weight changes I have experienced I can tell by how my clothes fit – now compared to a month ago compared to a year ago. All of these weight changes, I am almost certain, are due to chronic illness. With my chronic illness comes fatigue. I used to be very active with skiing, sailing and running all before falling ill. Now, I am lucky if I can ski for an hour once or twice a season, same with sailing, and as for running, I can just forget about that now. I currently just started physical therapy for my illnesses, but that’s hardly enough to see improvements thus far, even in the muscle building department, at least to the point I would like. I struggle with my body image, always have, and I probably always will. But recently, it’s been so difficult. I know I have gained some weight in a year, and lost some weight in a month. The losing weight is OK with me at the moment, because I am so uncomfortable at the weight I am now. I have a strong inkling that I might be at the high end of my goal weight, if not a little higher, which is a place I never thought I would be because of struggling with weight gain for seven long years. But my lack of exercise and the dietary changes I have had to make most likely contributed to this. I know many people with chronic illness struggle with weight loss as well as gain, and having an eating disorder on top of it, despite being in recovery, really messes with my mind and amps up my anxiety. Last night I struggled. Every time I look in the mirror I get anxious, disgusted and feel as if I could cry. I do not recognize myself. Yesterday when I got home, I fell onto my bed in tears. I just want to feel beautiful, I want to feel comfortable in my body. I want to feel like me. And I know who I am as a person has nothing to do with my outer appearance. But as someone with both an eating disorder and a chronic illness, it is so difficult to separate who I am with how I look. Dealing with comments is the worst. I lost some weight in a month, and my doctor asked what was going on. I told him I was on a new diet for one of my diseases where I am cutting out carbs. His response was “good, keep it up.” I like my doctor. He is caring, and I am sure he didn’t mean to offend me or make me feel bad – but deep down it hurt. When I told a family member I had lost some weight in a month, she said, “OK, well I do not think it is anything to be concerned about.” And I do agree. But comments on my weight or my body still hit a soft spot, because I do not have as much control over how I look as I once did. I can only do so much. I struggle to get my physical therapy exercises in each day. I struggle with what I can and can’t eat. I have gained, and lost, and gained, and lost, and this has been a pattern for a while. It is so difficult. I want to be in a stable place, and not only that, but a place where I feel comfortable in my skin and in this body. So, to those of you struggling with weight fluctuations due to chronic illness, I get it. It is far from easy. Some of us struggle with weight loss, and thus, need to gain weight back, especially with diseases affecting the stomach. Some of us struggle with weight gain, maybe from being sedentary, or other reasons or diseases that may result in weight gain. But I want you to know you are not alone, and you are so much more than your body. It can be hard to see things that way, and I work on seeing it from that point of view each and every day. But you don’t owe anyone an explanation. You do not owe anyone an apology. You do not owe anyone anything. Your weight is your business, and so much of the time it is out of our control. Keep trying. Keep fighting. And know you are beautiful no matter what. If you or someone you know is struggling with an eating disorder, you can call the National Eating Disorders Association Helpline at 1-800-931-2237 . We want to hear your story. Become a Mighty contributor here. Photo via Archv on Getty Images


    When Doctors Say They Will No Longer Help You Diagnose Your Illness

    You told me you were not a miracle worker, but that you would do everything you could to help and to get to the bottom of things. I believed you. I put my hope and trust in that. And it was my mistake. To the doctor who told me he can’t help and there is nothing more he could do for me: Thank you. Whether you know it or not, you taught me about advocacy. You taught me about how and when to pick my battles, and most importantly, you taught me I cannot put my trust in every doctor I see or come across. I need to choose wisely when it comes to my team of doctors, and I cannot be afraid to stand up for myself when I know something is not just, and move on when the time is right.   Advocacy. When you told me the one result was negative, I asked to pursue further testing per request of one of my doctors who I have been working with for a couple of years. You said you would consult the team and do what you can for me. I took that step forward and asked to continue with testing, trusting in my gut that something still is not right with my health and my body. Picking my battles. When your assistant called and spoke the words, “There is nothing more we can do for you. Your symptoms are not severe enough and we cannot make a case to pursue this testing like you want,” at first I was devastated. I was discouraged. And then I was angry. Not severe enough? You saw me one time. Do you not know that three years ago I was using a wheelchair to get everywhere? Or that two years ago I was relying primarily on a walker just to walk into the pharmacy? You did not see me with my walker. I still have it. I still use it for long distances. And I am in the process of trying to get a wheelchair. Is that not severe enough for you? Because it is severe enough for me. When my life is turned upside down due to illness, when I was a girl who used to ski down mountains all day, sail in the summers and run miles on end, that comment is almost a slap in the face. I understand I am not the most severe case out there. I understand fully, truly I do, that people may have it worse off than me, and that in many ways I am blessed. But to sit there and tell me there is nothing more you can do, that you can’t make a case, that you won’t even try? Well, to me that says you don’t care. That is telling me you can’t keep your word. And if you can’t keep your word or promises, you should probably not say anything to begin with. Next time a patient comes in and you say you will do everything you can to help them, I suggest you think carefully before you speak, and really think about the truth behind your words. Because making empty promises to someone who is sick is not only careless and negligent, but it is shattering to those of us with chronic illness on the receiving end. But back to picking my battles. I knew right then and there this was not something to fight for. If you do not even want to try, why should I push the matter? When I already have a good doctor who believes me and will do what he can to help and advocate for me, why fight to have you on my team? I need doctors who care. I need doctors who are persistent. I need doctors who aren’t afraid of a challenge and who are determined to get to the bottom of things. So, thank you. I learned when to pick my battles, and this is not one of them. I can try to get the testing done with my regular doctor who wanted it to begin with, and we will fight as a team to get the coverage. And lastly, trust. You taught me I cannot trust every doctor I come across. Doctors are human, too. I almost used to forget that. However, the more I have seen different doctors and had experience with different doctors, the more I have come to realize that not all doctors will gain my trust. Not all doctors will instill me with a high confidence level in their abilities. Not all doctors I will get along with. Not all doctors will be kind and compassionate. Not all doctors will care. This experience was the icing on the cake for my lesson regarding trust in doctors. There is a process that happens in the doctor’s office; there is an engagement, a conversation, and there is a vibe and a feeling that you get. It is either good or bad. I did not have the best vibe when we met, but I decided to give you a chance. Now I know you were not meant to be my doctor, and that initial trust I did put in you is now broken. I am not holding onto anger or bitter feelings. I am no longer disappointed and discouraged. But I think it is important you know the effects your words can have on a patient who is desperately seeking answers. So, next time you can see a patient who can walk, talk or appears healthy, do think twice about your promises and choice of words. Because the patient will take that as a glimmer of hope and hold on to it. Just because we appear healthy on the outside does not mean we are on the inside. We want to hear your story. Become a Mighty contributor here. Thinkstock photo via NanoStockk.

    What It's Like to Have Glycogen Storage Disease Type 1

    I am 23 and I live in Christchurch. I was diagnosed with a rare liver disorder called glycogen storage disease type 1b when I was 3 months old. My doctor had referred my mother to take me to the hospital, concerned that I was failing to thrive. I had poor growth, low blood sugar levels, a greatly enlarged liver, abnormal blood tests and what they described as a “porcelain doll” look. My doctors called specialists in Florida to seek help on a diagnosis. They came to the conclusion that it could be GSD. They took a biopsy of my liver and sent it to Melbourne, Australia to be tested, and sure enough it was. I was given regular tube feedings until the age of 9, then switched to cornflour orally. I was in and out of the hospital as a child and as an adult too, having over 150 admissions to the hospital. I have had many operations, procedures and medications throughout my life. Very few people in New Zealand have GSD and type 1 only occurs once in approximately every 100,000 births. This disease is genetic and caused by both the mother and father passing along this particular mutated gene. They don’t need to have this disease to be a carrier. If they were to have a child, there is a one in four chance the child will have the disorder. The main function of a person’s liver is to make and store fuel from the carbohydrates they eat, such as rice and potatoes. Some of the glucose produced travels into the blood and the rest into the body where it is used for energy. The liver of someone with GSD type 1 does not perform this function. We are missing the enzyme that allows this process to happen. The deficiency impairs the ability of the liver to produce free glucose from glycogen. Since these are the two main metabolic mechanisms by which the liver supplies glucose to the rest of the body during fasting, it causes severe hypoglycemia and results in an increase of glycogen in the liver or kidneys leading to enlargement of both. Both organs typically function normally in childhood but are susceptible to a variety of other problems in adult years. Frequent feedings of cornstarch or other carbohydrates is the main treatment. I have to take 80 grams of cornflour every five hours. I have never had a full night’s sleep. Cornstarch contains the highest amount of carbohydrates (one tablespoon contains nine grams of carbohydrates) and when taken raw it is hard for the body to digest, therefore giving me slow releases of energy. I go through approximately eight boxes of cornflour a week and over my life time I have consumed about 1328 kilograms (~2928 pounds) of it. To visualize this, it is estimated to be about 17 average-size bathtubs packed full of cornflour! How can anyone take this disease seriously when our medicine is a gravy thickener bought at your local supermarket? The main danger of not taking cornstarch is hypoglycemia. It is the central problem and the one that is most damaging. Any seizure can cause severe brain damage or, even worse, death. Having chronic low blood sugar can cause you to develop tumors in your liver called adenomas, typically becoming cancerous if not dealt with fast enough. Having GSD comes with other problems such as growth failure, joint problems (gout), kidney problems, pancreatitis, bowel problems, a high infection risk and blood clotting problems. Without treatment, growth failure is common due to chronically low insulin levels. Intestinal involvement can cause mild malabsorption. I was diagnosed with Crohn’s disease at the age of 16 due to this and struggle with all of the above also. Neutropenia is a manifestation of this disease. I have a very low white blood cell count and even though I am on daily injections to boost my immune system I still pick up infections and viruses easy. Without adequate metabolic treatment, patients with GSD type 1 have not made it to adulthood, and up until 1971 this disease was completely fatal. Those who survive may be stunted in growth and delayed in puberty because of chronically low insulin levels. I am now on my 184th hospital admission since birth. I have been living here in the hospital for three months and am now awaiting a liver transplant to save my life. There is no cure. We need to raise awareness and funding! Doctors in medical school often don’t get taught about GSD; it gets a mention in passing, at best. Here in New Zealand no one has released anything about the disease and I want to change that! I want to raise money to help doctors and their teams. I am hoping to write and publish a book on living with GSD as another way of raising awareness. Every little bit helps. If I could walk into a hospital and have the doctor or nurse already be aware of my condition, it would blow me away. I would not wish this condition on anyone. However, as much as I despise the disease, I would not change a thing as it has made me who I am today. This post originally appeared on stuff nation. Follow this journey on Ashleigh’s Facebook page. We want to hear your story. Become a Mighty contributor here.