GM1 Gangliosidosis

Join the Conversation on
GM1 Gangliosidosis
31 people
0 stories
5 posts
  • About GM1 Gangliosidosis
  • Note: The hashtags you follow are publicly viewable on your profile; you can change this at any time.
  • Explore Our Newsletters
  • What's New in GM1 Gangliosidosis
    All
    Stories
    Posts
    Videos
    Latest
    Trending
    Community Voices

    My Son's Diagnosis #Gm1Gangliosidosis

    It's been a while since I've written anything on here... I was actually reminded today that I had a thread on The Mighty, and it definitely ended up being a blessing to me. I need this group now more than ever. After seven years of searching for answers as to why my little boy kept regressing, we finally got an answer on November 7th, 2019. He does not have Autism, as we have always suspected the entire time. He was diagnosed with GM1 Gangliosidosis Type 2
    Juvenile. A rare and fatal genetic disorder with no known cures or treatments at this time. There are no words to describe how devastating the seconds, minutes and hours were after that initial phone call. The days, weeks, and now months are extremely painful. They tell you to hold your child tight. Make many memories. Always keep a smile on your face for your child and always do your best to make and keep them happy. It's nearly impossible, as I find myself breaking down daily behind the bathroom door or with my face burried in a pillow at night so my sobs don't wake him up. It's hard. Very hard. But I have accomplished a lot for my son since then and am always trying to find ways to make him happy, comfortable and make great memories. Then Covid-19 stepped in and tore all the progress we were making down. Stripped him of his much needed schooling, services and therapies. My son has regressed so much physically since March, even with distance therapies through Zoom and everyday simple exercises and massage that I was taught how to do with him. He does not have a Gait Trainer at home or a Sensory Play Gym. No 1:1 nurse or Professional Therapists. I will write more about that later, in another post. I am mad at myself for pushing for answers. I am mad at myself for not being able to be the teacher, nurse, therapist, doctor or other adults he needs in his daily life right now. I am angry with myself for not having an early schedule for him anymore and mad at myself for not being able to know what's bothering him right away when he is off. There are so many reasons to be angry but the greatest reason is why I am angry, is that I am not able to save my little boy. The little boy I carried in my womb for 9 months. The little boy who is SO determined to walk alone on his own again and don't understand why he can't. The little boy that despite his pain and diagnosis, has a huge, beautiful smile on his face everyday. Who's laugh is contagious and harmonious, and who's cuddles are the purest of the pure. I'm ANGRY. I'm angry that life is so unfair to those so undeserving. I'm angry that I pushed for an answer, but at least we now know and can better help him medically. The first ever Gene Therapy Trial for GM1 started recruiting just a few months before my son's diagnosis in 2019. So at least there is some hope now, where there wasn't any at the beginning of 2019. Sadly, he did not meet the criteria. How do I forgive myself for pushing? How do I stop being angry with me? 😔 #gm1 #Gm1Gangliosidosis

    Someone Stole My Daughter's Walker

    Since my daughter Iris’ diagnosis at age 5 1/2 with GM1 Gangliosidosis in the fall of 2013, I’ve become oddly accustomed to living life with GM1. It’s a hard reality knowing she has a fatal neurological condition. Still, after three and a half years, for my sanity, I’ve partitioned that reality into the recesses of my mind. Iris has the juvenile onset form of GM1, which is less severe than other forms of the condition. We hope she will live into her mid-teens, 20s, or possibly longer. But GM1 becomes progressively worse as time passes. GM1 destroys the central nervous system, which in turn impacts pretty much every basic body function. We cope as best we can. We try our best to lead a happy existence despite our daughter’s grim diagnosis. We constantly remind ourselves to enjoy our daughter and the time we have with her. As we have learned to live with with GM1,  we’ve found a new “normal” on repeated occasions. What might seem incredibly scary, like watching your child lose the ability to walk, is bizarrely just a part of life. However, today was not “normal.” Today, someone stole my daughter’s walker from a store parking lot. In a very brief lapse, the walker was accidentally left behind in the parking lot by the handicap spot. Realizing this mistake, Iris’ father returned immediately to the store. It was only a matter of minutes before he turned around to retrieve the walker. Upon returning to the store, the walker was not in the parking lot, and it was not in the lost and found. After speaking to security at the store, we were told security video footage recorded the theft. Three people on the video were involved: the driver of a car and two people who grabbed the walker. Immediately, following diagnosis, we could not help but ask “why?” GM1 is estimated to occur in approximately one in 200,000 live births. Some statistics indicate it may be even rarer. On the good days, we generally don’t ask “why” anymore. Today I asked “why” once again. Why steal a child’s walker? It was in the parking lot right by the handicap spot. Why not bring it to lost and found? Perhaps it seemed worth pawning? Online, it is $625. Perhaps someone felt truly desperate for some reason which is unknown to me. For my daughter, the walker is worth far more than $625. Her walker is part of her freedom and not having it is life-altering. The walker allows her to walk somewhat independently at school. The walker helps her maintain as much muscle tone as possible. Walking helps preserve aspects of her health. And let’s be completely honest, navigating the medical industrial complex to get the walker took some time. The process to get the walker involved physician approvals, appointments, and health insurance. Stealing is wrong. Stealing children’s medical equipment is the low of the low. While this might seem as a petty crime, there’s a story behind that bright little yellow walker accidentally abandoned in the parking lot. There’s a story of a little girl fighting for her life. There’s a story of somewhat frazzled parents. We hope the police can track down the walker. If not, we will navigate the process of getting a new one. We’ve been there and done that. We know the drill. But I am angry about the walker. We want to hear your story. Become a Mighty contributor here . Thinkstock image by sweetmonster

    Raising Awareness and Funds for GM1 Gangliosidosis

    Recently, we held our first yard sale to raise funds for a cure for GM1 gangliosidosis, a rare, fatal neurological disease. Tragically, my daughter was diagnosed with it over two and a half years ago. Christine and her daughter. At the yard sale, I was struck by two experiences in particular. In the first case, I was selling a guitar and thinking out loud when a woman asked for the price. I said, “Well, it was originally $100. It does have a broken string, but it is also for charity.” In the back of my mind, I had not settled on a price, but I definitely did not expect $100. I handed the woman a brochure and showed her my daughter on the cover.  I explained our nonprofit is for children suffering from a rare fatal brain disease. She looked at the brochure and said, “I am so sorry. I will give you $100 dollars. Some children are with us for a shorter time.” She walked away. A few minutes later, she came back. She looked at me and said, “I lost both my children.” I wanted to ask more about her children, but I also did not want to ask too many questions having only just met her. I am very grateful for her generosity. I thought about how death is a part of life. So many of us have been affected by extremely painful experiences, yet these experiences are often kept private. Those experiences do not always rise to the surface in our more mundane interactions. I realized, someday, I may be the woman who says I have lost a child. “You probably know what we are going through then,” I replied. She nodded silently. It was a fleeting moment of mutual understanding. The second experience took me by surprise in a different way. I realized one of my grandmother’s books was in the sale. A woman came up and asked for the price of my grandmother’s book. I said, “$1 or $2 would be nice.” Then, I realized that I really should not have put the book out for sale due to its sentimental value. She said “I will give you $1.” I responded, “It would be nice if you would consider $2, because the sale is for charity.” The woman turned to me and said, “ Wow! Anything for a buck, huh?” I explained that the funds are donated to a nonprofit to support medical research for my daughter and for children who are dying. I handed her the brochure and she left without the book. In reply to that blunt comment over $2 versus $1 for a book, “Yes, anything for these children.” Anything for them. We do not ask for pity. We do not ask for $1 or even one cent of people’s hard earned funds lightly. We will continue to fight for a cure and to fight for awareness. These children are truly deserving of every dollar and so, so much more. Children with GM1 gangliosidosis deserve a chance at living. They deserve hope and treatment as opposed to a descent into a vegetative state riddled by seizures until death. I try my best to live each day with as much hope as possible. The reality is that the deck is not stacked in our favor. This is a rare, degenerative disease. As time passes, regressions advance. Some of the changes and experiences are very hard to accept. Generations of children have been suffering from this disease for over 130 years which is far, far too long. Thank you to the sweet woman who bought the guitar, and for that very vulnerable admission at a yard sale. Thank you to all our friends and supporters who have been so very generous. Every contribution helps and it’s important to get the word out. We continue to encourage others to join the fight to save our daughter’s life and to save the lives of all those affected by this condition. The author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis. To make a donation to support GM1 medical research, please visit the Cure GM1 Foundation page and Sweet Iris for more information. Follow this journey on Sweet Iris. The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability, disease or mental illness. If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

    When a Life-Limiting Condition Makes Birthdays Bittersweet

    I’m truly grateful. My sweet daughter is so very fortunate to celebrate her 8th birthday.  Two and a half years ago, we were faced with her diagnosis of GM1 gangliosidosis, a rare degenerative neurological disease. There is no treatment or cure. Her life will be cut short without incredible medical advances. Yet, here we are. Another birthday. Another entire year. We are so grateful for every moment. We adore her smile, her hugs and her love. Not a single doctor can tell us with any confidence how many birthdays she will celebrate. One specialist guessed a life expectancy into her teens or perhaps even into her 20s. We can only hope that is the case, but is it quality or quantity that matters most? We are living in the face of a chronic and life-limiting condition without a proven treatment and without answers. Even those who do not face such a devastating diagnosis do not truly know their own futures. It’s simply more likely that our daughter’s life will be cut short by decades more than the average lifespan. It’s also very likely that her life will involve challenges that the majority of the population typically do not face. Still, we are hopeful. We have been told a clinical trial may arrive as early as next year. We fought tooth and nail to obtain the only medication which is thought to be possibly beneficial. Through a study, we embarked on a modified diet in an effort to possibly enhance the efficacy of this particular medication. This special diet deprives our daughter of nearly all sugar. On her birthday, there will be no cupcakes, frosting or sweets. If we do make a “cake,” it will be prepared without the usual ingredients: flour and sugar. And miraculously, despite the nightmarish diagnosis, she’s 8. She’s living life. There are many nagging questions. Is the medication working? Will our insurance approve the unreasonably expensive medication again? Is the diet helping? Will the clinical trial happen on time? Will she be in the clinical trial? Do we actually want to be in the first clinical trial? When will she stop walking? When will she stop speaking? How many birthdays will she have? We simply do not know. We do know that many children with this condition have a much more severe form of the disease. These children’s lives are measured in months and days, rather than years. Tragically, several children who were diagnosed around the same time as our daughter are no longer with us on this earth. Given the situation, what does one do? How do we celebrate given that this is a degenerative condition and the clock is always ticking? We celebrate fiercely because this diagnosis has taught us so much. Birthdays are truly an event to celebrate, yet time is also our enemy. Today, in honor of our sweet girl and all the children who have this horrible condition, find something to celebrate. It might be something small. Savor the first, middle and last sip of your morning coffee. Take a deep breath of fresh air as you open your door. Commit an act of kindness. Live and love fiercely, because one never knows how many birthdays remain. Author’s note: The author of this post, Christine Waggoner, founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children diagnosed with GM1 gangliosidosis. To make a donation to support GM1 medical research, please visit www.curegm1.org and www.sweetiris.org for more information. To follow Iris’s story on Facebook, click here.

    Why We No Longer Ask, ‘What If?’ About Our Daughter’s Rare Disease

    In the featured image of this post, we look like a happy family. But this picture doesn’t show even a hint of the deep grief we were experiencing. The only visual indication of our daughter Iris’s condition in the image is the ankle-foot orthotics. It’s now been nearly two years since her diagnosis. I’ll never forget the day. My husband turned 40, and his job essentially dissolved the same week. When it rains, it pours. It was an awful birthday and one we will never forget. In a way, it was convenient. Some of the decisions on how to move forward were made for us. Both parents working full-time was no longer a possibility. The struggle of managing time away from work for all the various therapies and doctors’ appointments came to an end. Before her diagnosis, we thought our daughter was just a bit clumsy. We thought she had a benign speech issue. We thought physical and speech therapy would suffice. That’s what the doctors said at first. Following her diagnosis, we faced the grim reality of a rare, chronic, incurable and terminal illness called GM1 gangliosidosis. The kicker: The cause is genetics. Much to our chagrin, Darwin and nature’s game of roulette had their way. The faulty genes lurked within us, her loving parents. The genes were recessive, hidden and dangerous. Illogically, we had an awkward feeling that as carriers, we could or should have known despite no family history of this condition. I allowed myself to cry as I commuted alone in the car. My husband and I were most comfortable in the presence of our children, where the sole focus was on their immediate needs. The darkest times were those moments of solitude, usually in the evening. Bedtime stories were over. The children were asleep, yet I lay awake. My mind wandered beyond the present moment. I made the error of permitting myself to imagine an alternate reality. Two years later, simply put, I don’t go there. Where, you ask? I don’t go to that imagined and nonexistent place without GM1 gangliosidosis. Time, acceptance and even a degree of healing dulls the pain. We cherish the time we do have. We accept our lives and the entire spectrum of experiences involved. We cherish and love our daughter for who she is. We don’t ask, “What if?” We don’t imagine who she might have been without this rare disease. The grief ebbs and flows, punctuated by “normal” milestones and/or regression. There are many, many hardships in life. It’s really not productive to compare our lives to others’ lives. We may not be able to control all the events in our lives, but we can control our responses. We can choose to advocate. We can choose hope and have resilience. GM1 gangliosidosis and grief will not consume us, although it is an utterly horrible condition. Simple pleasures abound: a smile, a walk hand-in-hand to the store, a family outing. There is still much to appreciate. There is much to enjoy today. Today, I still kiss my daughter’s head, hold her hand and cuddle with her. I will continue to have that immense privilege for a time that is not predetermined. No one really knows what the future holds. Real life does not have a script. Without contrast and without hardship, we would not truly understand or appreciate joy. Follow this journey on Sweet Iris.