Having GNE Myopathy is a daily battle. Your body is constantly changing and it requires you to keep adapting your lifestyle, which can be quite overwhelming. However, this battle is much easier to fight knowing that there is a support group of patients, family and friends who are going through the same struggles and who you can reach out to. Here you can read the stories of other patients with GNE Myopathy and also share your story with us. Please email us at email@example.com if you would like to contribute your story. We would love to hear from you.
Patient Stories from Across the Globe
My name is Valeria, I’am a 26 year-old girl from Sicily and I grow up in a house which smells good, surrounded by the sea and by a Vulcan which gives you both fear and love, it’s the Etna.
My twin sister is affected by Hereditary Inclusion Body Myopathy like me. We learnt the news
in August of 2010. I remember perfectly that moment.
Everything started when Federica told us she was losing balance and strength. So, a long period of medical examination succeeded, during which she has been submitted to summary tests and painful EMGs by several insensitive and incompetent doctors.
Everything changed when a young doctor suggested us to consult Dr. Carmelo Rodolico , a neurologist in Messina General Hospital. After having underwent Federica to a muscle biopsy and the both of us to a gene test, the results confirmed his suspicions.
Since we heard the news, we have spent several afternoons searching for information on the net. It took me a while before I understood everything I read, I still did not have visible symptoms, I did not perceive them but I couldcertainly perceive the fear.
Initially I forced my body to excessive strain, in order to prove to myself that the disease was not progressing and that I was still healthy. I demanded to it to ward off my fears but actually all I did was wear it out.Later I realized the uselessness of my efforts, because my body was changing and it would have done it again and again, despite my will, my prayers and my hopes. I had to accept it, I had no choice, I was obliged to renounce to who I was in favor of who I was turning into.
I felt the disease walking inside of me and turning me off slowly.
And it was in that moment, when the darkness was more blinding than the light, that I realized how much I loved life, how much I loved Valeria.
I had to face it, to stop taking it, no more “but” or “if”. I had to live again, to concentrate myself on “in spite of”. Therefore on 20 April 2011 an Association was born, “GliEquilibristi HIBM onlus”.We had neither reference points in Italy, nor a sort of patients gathering. I tried to do it all on my own, I looked for and I found some patients by means of Telethon, I let Dr.Rodolico share my telephone number with all the patients he was following. Thanks to the Association the number increased, I can count 25 patients to date, although I would not exclude there are others. Almost all of them keep in contact to exchange information or simply to support each other.
I always say to love and to hate the disease at the same time. I hate it because it’s the reason why my body is abandoning me gradually, it’s the reason why my breaths sometimes stop when I think of the future. I hate it because it’s the cause of my fears, of my nightmares, of my tears, of my uncontrolled anger…of something I lose, I mean. But before being affected by the disease I was just surviving rather than living. I was not neither aware of myself, nor of my strength. I did not know that my mind, my soul and my heart could be able to substitute the parts of my body whose strength I keep on losing today. But I knew that the journey my disease thrown me into would be difficult, I foresaw that the fear of a possible fail could obfuscate my mind. That it could make me feel unable to be the President of“GliEquilibristi HIBM onlus“but I think every time about my life and about the patients’one. I think of their stories, of their hopes and fears, I think of their smiles, of their interminable fight and I have not to stop believing in our strength, in the power we have, in the love we can give and in what we can do or in who we can be, despite all.
Facebook: Associazione Gli Equilibristi HIBM
My name is Liraz and I was born on April 2nd, 1994 in Kiryat Yam, Israel. I was diagnosed with HIBM at the age of 17, in April 2011. My parents are first cousins, both are Persian Jews. So far, I am the first, and hopefully remain the only case of this disease in my entire family. I also have an
lder sister (24 years old) and twin brother and sister (13 years old). At the age of 9, during the summer break between the 3rd and 4th grade, I was diagnosed with type S spine Scoliosis. It was pretty progressive - over 25 degrees. The treatment was to wear a Boston Back Brace for 23 hours a day. The situation kept getting worse until it stopped at 48 degrees when I was 13 years old. Due that, the doctor decided I could let the brace go. A year later my condition worsened and my doctor decided to do surgery. The surgical approach was through an incision in the back which involved the use of metal instrumentation to correct the curve. Because of the risk for the spine during the operation there was a preview test which included electrodes in order to test if my body passes electric impulses. I failed the test a couple of times, due to what I now know was the cause of my muscle disease. After a series of tests, I had the surgery when I was almost sixteen years old. The surgery took 10 hours to complete. I spent 2 weeks in the hospital and had to stay home-bound for 3 months. According to the doctors, I was supposed to be fully recovered after 6 months, but it was not the case. Around this time I tried to run but I felt my legs were too heavy, like logs attached to my body instead of legs. Later on I saw I could not lift my leg above the other without using my hands to help, in order to sit with my legs crossed.
During the summer vacation my mother noticed my walk was still weird looking. She always told me that, but it was hardly noticeable, and we thought that it was due to the scoliosis. At that time I used to fall down a lot, but I could not figure out the problem. My friends however, told me I walked fine, and they were sure that my falling down is because of the surgery.
In October 2010, I went to a neurologist for the first time. During the test he saw that I have a foot drop, and he recommended that I walk with a Dictus band, which I refused to wear because I was in high school at that time. He defined my disease as a muscle myopathy, and sent me to see another neurologist, a professor in Haifa for a second opinion.
In Haifa, one of the doctors asked me about my parents, and when I told her they are both Persians, this doctor then she referred me to a Hadassah hospital in Jerusalem. I took the blood test in Jerusalem, around April 2011, and a month later, I was informed that the assumption was right, and I do have HIBM. It was a relief to finally know the definition of the disease, being able to read about it, and understand that it is not a terminal disease.
During my remaining time in high school I had physical therapy and hydrotherapy sessions, and the disease progression was slow- I could not run or jump however, I could still climb stairs without using the railing, stand still without problems, swim, carry stuff while I walk, and wear open shoes (with the risk of falling with them but I didn't care).
no doubt something was not right, I felt like I cannot confess and confront my situation by telling everyone, therefore I let them assume it was caused by my back surgery.
After high school I decided to go on a community service year as a guide in a youth movement called “HaNoarHaOvedVeHalomed” (the learning and working youth). I shared a house in Jerusalem with 20 other friends my age. I also started the Ultagenyx Pharmaceutical Sialic Acid Extended Release (SAER) experiment in Hadassah hospital in Jerusalem. During this year, although I used to climb stairs without railing and I was very active, I did not do any physical therapy with a therapist, so my situation started to get worse. I had started to have troubles standing still, and by the end of the year could not stand still for more than a minute without losing balance. I also could not climb the stairs without railings or some one's help. In the summer I decided not to join the Israel Defense Force (IDF) like the rest of my friends. Instead, I came back to live in my parents' house in Kiryat Yam, and to guide the youth movement in my home town. I also started to work as a teacher's assistant at my old high school, and am attending my physical therapy sessions again.
I got sick of falling down at least once a day, so I have started to wear the Dictus band again, and sometimes even my AFO. The disease progression was mild to none, except for my balance – I could not stand still without leaning on something. In June 2014, I traveled to Prague by myself, and fell down only once thanks to the Dictus band. When I came back to Israel, Operation Protective Edge started in Gaza. Since, my friends in the IDF participated in it, I was worried and anxious all the time, lying in bed with my phone all day waiting to hear from them or watching the news. Because of this, I neglected my exercise and for a month very rarely left my house. Due to inactivity, by the end of the summer my body became very weak- my gait became heavier, and I could barley climb the stairs even with railings.
When the new school year started, I returned to work at my old high school, to work in the youth movement, and I took the SAT preparation course. Due to such a busy schedule and lack of motivation I did not do any physical therapy. In March 2015, I moved again, this time to live with my friends who live in Jerusalem. A week before I moved back together, I travelled again to Prague this time with my younger sister as her 12th birthday (Bat Mitzvah) present. During the trip she helped me a lot such as carrying my stuff, and always held my hand for balance, but I still fell down quite a lot. When I came back to Israel I decided to start exercise again. But after a couple of months I felt like it's too much, and since then I exercise only once or twice a week. Now I'm still using the Dictus band, but soon I will try the Walk On AFO, as was recommended by a doctor. I continue to participating in the Ultragenyx’s SAER experiment. I still live with my friends in Holon, Israel and continue guide in the youth movement. Currently, I am taking driving lessons for a car with hand mechanism and my progress is good. I know my situation is not that great and that it probably will never get better. I see people staring at me as I walk down the street or try to climb stairs. They stare at me when I get on the bus and sit where disabled people sit, and I do not get up when elderly people get on the bus. I usually ignore the looks, but sometimes, it's so frustrating that I just want to scream "YES I'M 21, I'M YOUNG, BUT I'M DISABLED!"
Sometimes, I am even thinking about giving up and starting to use a wheelchair- thinking about the benefits like not falling down, getting to wear whatever shoes and clothes I would like, and not having to explain to everyone that I AM disabled (when I have to tell it to someone I do not know, I usually burst into tears after I explain my situation to them). Though, I realize the disease is permanent and it will never change, I still cannot fully accept the situation. I think a lot about how much this situation is unfair, how it happened to me, and what the “hell” I did to deserve this. I also think about what would have happened if I did not have this disease. I would have served in the IDF with my friends, I would have been able to travel with my friends around the world, I would have been able to wear whatever I want, and my worries would have been totally different. Now, instead of thinking and wondering when I would not be able to walk anymore, and when I will have to use a wheelchair; I would have been thinking about things less disturbing.
I know it is not nice to hear about these thoughts, and I usually never share them with anyone, and I try to keep a more positive attitude when I am talking to people about it. I think these thoughts are similar with anyone who has the disease, and it is a part of this disease which helps to build our character. Despite these thoughts, I know I would not have been the same person without this disease, that I would not have the same personality without it and that it had taught me a lot. It is helping me to get a better perspective about the world, to see things other people do not see, and appreciate things other people take for granted. Although it is preventing me from doing certain things like going on trips, and playing all kinds of games with the youths I work with, it is helping me with showing them a personal example, to not give up on themselves. They love me nevertheless; it is what is on the inside that matters.
This might be the first time that I am telling my detailed story and battle with HIBM disease. Actually, I have known about this disease since I was a child. Maybe not under its current name, but I definitely knew already what it could do and how it could hurt. I was exposed to its different phases
hrough forty years of my life. My first introduction was when I was five.
At that age I saw my father arriving at our village after a long time of disappearance for medical treatment in the city as I was told I remember perfectly that moment.I saw my father then pulling up his legs from the ground, trying to walk, and struggling to prevent himself from falling on the narrow rocky walkways of our village with two of our relatives standing on each sides near him ready to help. I knew by then that my father was different, such that his return turned out to be a sad occasion.
I got used to my father being physically weak, so I got used to being careful when I played with him or got close to him since just a little bump could make him fall down. This disease somehow became part of my life ever since
Time flew and months turned into years. I grew up quickly and completed my college training to become a naval officer. I was even lucky enough as to make my dream come true: joining the Naval Flight School to become a pilot for the Navy.
During my flight school days and when I was 22, I started to notice some strange signs of becoming easily fatigued after running or heavy exercises. I was really athletic at that time, and I thought of many reasons for these strange body responses, but I never came close to the thinking that I had a muscle disorder similar to what my father had.
I had earned my wings and have flown (Navy) aircraft for three years. However, the symptoms of weakness and improper functioning of my lower limbs continued to grow, but I kept denying those realities, and resisted visiting a doctor, possibly because I suspected the answer all along.
It did not last long before I had to see a flight physician for an annual flying medical checkup. Once the doctor completed his routine checkup and started to sign my “fit to fly sheet”, he asked “did you suffer from any problems?" I answered him with painful feelings, "I believe that I am not safe to fly." “Why,” the surprised doctor asked. I mentioned to him that I didn't really know what was the matter, but my legs muscles were not strong enough to prevent my feet from dropping. The doctor then sent me to a neurologist to diagnose my case.
In my visit to the neurologist, I remember that he came out to welcome me and, as I was walking to his exam room he was observing my walking style. He surprised me with this question: “Do any of your parents have a muscular problem?" Before my “yes” answer and in those very few seconds of pause I realized that my flying days were over and my whole life would not be I had hoped.
With no doubt, the diagnosis was thus muscular dystrophy, which later was correctly confirmed as HIBM. The disease that had weakened my father’s body had just begun to do its destruction on my young body.
The fact that I was almost fit and having only minor walking problems, and simultaneously recognizing that I would soon be in a wheelchair was not an easy idea for me to accept. Adapting to the whole idea of living perpetually with a disability was indeed a very difficult journey.
It took me a couple of years to accept HIBM as part of me, and it took me a few years more trying to ignore it and continue my life. Naturally, at first it was very hard to deal with this illness. Often I just I hated the ever progressing mobility limitations that that restricted what I could do, and it changed my life style. However, my God (Allah) gave me the required acceptance and the satisfaction to realize that this was my fate, and that I should appreciate the other gifts that were given to me. With extraordinary support from my wife without whom I could not imagine my life plus the support of my great family and friends, I was able to positively turn my life around and focus on my achievements. With a successful marriage, five wonderful kids, and recognized educational and career successes, there was no reason for me to complain.
Although I am trying to enjoy each day of my life as it comes along, my hope is to get stronger. I fervently hope in the near future a treatment will be available for myself and others who suffer from HIBM.
Abdullah can be contacted at firstname.lastname@example.org
I was never an athlete. I always ended up as the last person at the finish line of a sports meet.Perhaps deep inside I always knew something was wrong with me, that I was different, not like everyone else. So when my body started becoming weaker and it became obvious that something was wrong, and
eventually I was diagnosed with GNE Myopathy, I somehow felt prepared for it. Yet no one I knew or any of my family members had this condition. So while I was vaguely prepared, I was also incredibly lonely. Nearly four years later, I was living by myself in Singapore, working with a British law firm as a securities lawyer, when I was finally diagnosed with GNE Myopathy after many visits to different doctors and medical tests. I was doing well professionally and achieving my ambitions. I didn’t want to and hardly had the time to understand what was happening to me. My doctor at the National Neuroscience Institute in Singapore, Dr.Umapathiwas incredibly supportive and made me feel comfortable with my condition. At that time I could still walk without braces, wear skirts and climb stairs without help. My work was my life. I didn’t need to think about anything else. I had no idea what the future would bring. But slowly I began to realise that I needed a full night’s sleep, time for physiotherapy and was easily tired. I couldn’t keep pulling all-nighters to finish work deadlines, work on weekends and skip physiotherapy. I think the worst part of this disease is not knowing what to expect – in the coming months and eventually years. You hope that you will not get worse but you can never be sure. So the best thing to do is live the present to the fullest!
I wanted to travel and do all the things I would not be able to as I got weaker. I didn’t want to be defined by a medical condition. I still wanted to live and have a good career and pretend that nothing was wrong with me. Having GNE Myopathy teaches you new things about life, about yourself and about the people around you everyday. It is hard to accept your body as it is and to accept your dependence but it also teaches you humility and courage. As my body became weaker, my mind became stronger, I was even more determined to do everything I wanted to. I knew that all the things that everyone else took for granted, I could not and so I was very clear that I did not want to let GNE Myopathy stop me from achieving my goals. My parents were always incredibly supportive of everything I wanted to do. They helped me understand my condition and what I needed to do to take care of myself. Without the help I got from them, it would have been impossible for me to have the courage to live the life I am leading now.
Soon after my diagnosis I left the high-pressure, intense world of ‘securities law’ to become a law teacher instead back home in India and two and a half years after that, I decided it was time to leave the security of home for a PhD programme in law and economics in Europe. I was terrified! I would be required to study in three different European countries, live alone and all of this with no help and no idea of what to expect. How hard would it be to study with GNE Myopathy? What would my new friends think? Would I be able to take public transport? Well, I am in the third year of my PhD programme and while in this time I become noticeably weaker, I have made some wonderful friends and incredible memories. I had some difficult times but what is more important for those of us with GNE Myopathy, I have survived! All of this thanks to the wonderful support of my parents, family and the friends I have made both within the GNE Myopathy patient community and outside. The Facebook support group for GNE Myopathy patients is an invaluable source of support and help for anything and everything – from practical difficulties about wheelchairs or shoes to emotional ones.
There are days when I am tormented by this condition - embarrassed because I fall in the most public of places and am not able to get up on my own, frustrated to be so limited and needing to ask for help with basic physical movements, disappointed to be wearing the same pair of shoes every single day with all my clothes because it’s the only thing which will fit my braces, frightened of the snow and the wind. There are other days when I embrace this condition - the mental strength it has given me, the appreciation for life and all the things that I am lucky to still have and the will to fight.
A few details of my diagnosis: I was diagnosed with GNE Myopathy by Dr.Umapathi at the National Neuroscience Institute in Singapore (Dr.Umapathi is contactable at email@example.com) in 2009. My doctor told me that the best way to manage my condition was to do regular physiotherapy and to use Ankle Foot Orthosis (AFOs) for walking. These devices help with ‘foot-drop’ and make it much easier to walk. Initially, I resisted wearing the AFOs but now I cannot do without them. I started with wearing AFOs called ‘ToeOff’ http://www.allardusa.com/products/toeoff.htm and then I started wearing the ‘Step-Smart’ by Insightful Products LLC http://www.insightful-products.com/ and now I wear AFOs by Ottobock http://www.ottobock.com/cps/rde/xchg/ob_com_en/hs.xsl/36221.html I have had to change the AFOs I wear over the years as a result of problems in the availability of AFOs in the different countries I have moved to in these past years and also my changing needs with the progression of my condition.
Life before diagnosis
I come from a large extended family and am the only one in my family that has been diagnosed with Hereditary Inclusion Body Myopathy (HIBM). I was living a healthy life before I found out about my diagnosis. I had many hobbies including exercising,
dancing, singing, and drawing. In fact, I used to attend a folk dance festival every year and I loved it. At the age of 26 in the year 2011 is when I started to notice the ankle pain and it was also hard for me to get in and out of the car by this time. People started to notice I was limping as I walked, it was also at this time that I struggled to run and it was hard for me to tie my shoes as well. When I went to my physician to see what was wrong, I was told that maybe it was just because I had gained a little weight lately. I continued to go to multiple specialists until a proper diagnosis was found. By the next year (2012) it was hard for me to lift my legs. I went to a neurosurgeon, but couldn't bare the pain of the EMG, so I was not able to finish. I was living in Ohio at this time, and in January of 2013 some of my family and friends told me about the Mayo clinic in Rochester, MN. I went there and they took many tests. After many months they got the biopsy results back, and told me I had HIBM. The news was very hard on me and my family. Some of my family members were very sympathetic to me and others were not very understanding which made this news even harder for me to bare. Shortly after this time I found the HIBM Facebook group, and they were so helpful. A little later I found out about the ManNAc trial at National Institutes of Health (NIH), I worked for two years to get in, and in early 2015 was able to begin the trial. During the trial I began physical therapy and had massages which really helped. After just one year I decided to quit the trial so that I could get pregnant and have a child. I was able to have a successful pregnancy and am now enjoying my happy, healthy 9 month old baby. Even though my condition does continue to get worse, I go to weekly physical therapy and monthly massages and am able to enjoy my life very much with my husband and my daughter.
Pregnancy with HIBM
During my pregnancy
To my surprise during my pregnancy I actually had more strength and energy than I did before or after my pregnancy. I was careful to watch my weight and I tried to eat healthy as well as go on walks. The only extra health concern I had was gestational diabetes. By the end of my pregnancy it did get a little harder to walk because of all the extra weight, but I was able to still take walks at least.
After the baby’s birth
Because of my diagnosis of HIBM, my doctor had to deliver my baby via C-section. I was able to deliver a perfectly healthy baby. Her life, smiles, sounds, and development has brought me so much joy and happiness. This has made living with HIBM much more bearable. After delivering, I did need to take the time to rest and recover. Especially since I delivered via C-section. Fortunately my mom was able to come and stay with me during and after pregnancy. Between my mom and my husband's help I was able to manage just fine with a newborn. During this time period I noticed my arm became weaker and the pain started to increase. I am not sure the cause of this. It could be a number of different things. Either from holding my baby, lack of physical therapy or the HIBM getting worse. After three months my mom had to return home, and my pain was increasing, so my husband and I decided to hire a part time nanny to help around the house and with the baby. Now life is much better and I am able to go on living a relatively normal life. My daughter has given me more reason and hope to go on living even with this disease. She has brought new light to my life and I am so happy with my decision to go ahead and have a baby.
-- Sweta Thakkar