PMM2-CDG

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    Karen Morici

    Letter to Parents Whose Child Is in the Hospital

    Dear parent whose child is constantly in the hospital, I know that during long hospital stays with your baby, days become perpetually the same. You start ignoring the beeps from the monitors because it blends in with the rest of the familiar noise. You look forward to the nurses coming in to do vitals so you can have some adult interaction. You are surprised by the friends you thought would be your support system and the people who you never expected to reach out. You feel isolated from the world, more alone than you could possibly imagine. You get used to everyone saying, “Is there anything I can do, do you need anything?” But know your requests might be a far stretch from how much people actually want to help. You wonder if the texts you receive are obligatory, if they feel like they’ve done their good deed for the day. You make eye contact with another mother as she walks down the hallway past you. You can tell she’s feeling your stress. Wearing sweats. Hair up. She’s walking to the family lounge to microwave her leftover coffee, but even that won’t hide the bags under her eyes from all the sleepless nights, being woken up by nurses every few hours and trying to wrap her head around what is happening. I know how hard it is to entertain your child while here, to keep their spirits up, but no one to lift yours. I know it’s painful for you to watch every IV put in, every test being administered, every vial of blood being taken. Every poke to them is a stab at your heart. You may be in the room next to me, or a few rooms down, but I feel a connection to you. I understand the worries you have deep in your soul. I understand the fight and your will to have your voice be heard. I understand the isolation you feel from the outside world, from your friends, and from the life you had before you were here. I don’t know why your child is here. I don’t know when your child will be leaving. But for now, I will continue to smile at you when we pass. I hope you know my smile is more than friendly. I want it to show you that I get it. I understand. Remember, you are not under this cloud alone.

    What It Feels Like to Transition Your Child to a Wheelchair

    I’m at an emotional crossroads with our youngest son. I knew this day was coming. I was prepared for it, yet I’m prolonging it. Melissa’s son. Our son has PMM2 CDG (also known as CDG 1a), a metabolic disorder that affects nearly every part of his body. His muscle tone is severely affected as he cannot sit unassisted, crawl, or stand alone. He has come leaps and bounds from where he started, and we are hopeful someday we’ll be able to cross those accomplishments off of his list. But for now, he’s completely dependent on me. I carry him everywhere. Out of his crib. Down the stairs. Into the car. Out of the car. Running into the store to grab one item. Into his big brother’s school. If it’s quick, I carry him. We do have a stroller made specifically for children with special needs, which we absolutely love. We load it up and use it when our trips are long, when my arms can’t carry him. But as of late, something is changing. The quick trips are getting challenging. My arm is burning and aching. His uncontrolled movements are causing my grip to loosen. The arching of his back and meltdowns while carrying him are becoming dangerous. His nearly 30-pound three and half-year-old body is getting hard to juggle. As I ice my arm each night, I am beginning to realize what I’m doing may not be working. I was prepared for this day to come. We have the tools. I keep going back to the day of our diagnosis when his neurologist said he may not walk and would likely need a wheelchair. We heard her; we knew this was going to be a part of our lives. Prepared and ready are two different things. I’m not ready. I’m not ready to set him in his chair for the quick trips. I’m not ready to say I can’t do this anymore. To be honest, the wheelchair part of the equation isn’t what brings me to tears. What bothers me the most is, I was going to carry him as long as I could. With each passing day I’m realizing his wheelchair may need to be an everyday part of our lives. Running into the library to drop off the books. Ordering a sandwich at the coffee shop. Bringing packages into the post office. It’s difficult for me to do it anymore without assistance. With tears streaming down my face, it’s hard to admit I’m struggling. My body hurts and it’s not going to get any easier. I know his body is only going to become more difficult to manage. Getting his slippery body out of the tub currently is like a well executed magic trick. Balance here, hold here, set him down as quickly as you can. Caring for him is going to come with more challenges. I remember sitting in that office, staring into our son’s big eyes when he was eight months old, thinking this day was so far off. My arms would carry him as long as I could. I’m afraid “as long as I could” may be here. It might be now and I’m not ready.   Follow this journey on Team Christopher We want to hear your story. Become a Mighty contributor here.

    Letter to Parent of Kids With Life-Threatening Diagnoses Like PMM2-CDG

    I know you’re scared. I’ll never forget the words from our neurologist when she told us our child has congenital disorder of glycosylation (PMM2-CDG). She told us this was not a sprint, and we were beginning the longest marathon of our lives. And that’s exactly what I wanted to do. Run. I wanted to scoop up our baby boy and run. I had an overwhelming desire to protect him, paired with immense fear. I had no idea where I wanted to run, but I wanted to get as far away from her words as possible. I wasn’t ready to accept it. I wasn’t ready to give up all of the dreams I had for our son. You may grieve the life you planned out for your child, but as time goes on you’ll start making new plans. You’ll start to change your goals and dreams. Your new plans will make you smile and bring you joy. I promise you there will still be times of celebration. I’m still grieving. I don’t think that part will ever go away; it’s woven into us now and that’s OK. You will celebrate. Every. Little. Thing. I am telling you, every accomplishment your child makes will be enhanced on the celebration scale. I’ll never forget when our son rolled from his side to his back. While I was clapping and cheering, my aunt looked confused and asked, “That’s what we’re excited about?” She didn’t get it. A lot of people won’t get it. Accomplishments and triumphs will make you want to stop everyone at Target to tell them your 3-year-old has just started sitting for minutes at a time. Learn to forgive family, friends, and strangers for ignorant comments and well-meaning words that come out wrong. I’ve been asked if my son will outgrow his condition and for his life expectancy from strangers. Unless someone lives in your house and wears your shoes, they have no idea the life you lead, so cut them some slack and instead of getting upset, try and teach them. Practice grace and try to explain your feelings instead of holding it against them. As much as they may try to understand they simply can’t. You will become things you never thought you would. Teacher, nurse, therapist, fundraiser, and advocate. Fight for your child. You are the expert on your child, and don’t be afraid to voice your opinion. Your child is counting on you, and I know you will become the greatest advocate. It’s unfortunate that fighting for services, equipment, and therapies will be a constant struggle. Don’t stop fighting. There will be days you want to give up. There will be moments you retreat to the solace of your room and cry. You’ll cry at the unfairness. You’ll shed tears as you watch your child struggle day after day to do something so many take for granted. You’ll wonder if all the hours of therapy are worth it. You’ll question your decisions and wonder if you’re doing the right thing. I’m here to tell you that you are absolutely not alone. Any feeling or thought you have has been felt by another parent. I’ll never forget a time I was sitting in the therapy observation room watching my son wail and protest during physical therapy as tears streamed down my face. I wanted to just be done. Over 200 appointments and countless practice hours at home, and he still wasn’t sitting. I felt so utterly defeated. I thought to myself, “This is something that is never going to end.” He will always need therapy, always work for everything. The thoughts of “forever” were too much, but my feelings of defeat quickly faded as I watched him continue to work through the tears. He isn’t giving up, and neither will I. Find your tribe. Find those who cry with you, lift you up, laugh, and simply listen. Find a support group, whether it’s an online community of parents whose children all share the same diagnosis, or a group of old friends. You will need them, and they will need you too. You’ll find out some of your friends want to understand your life and some don’t. It’s OK. Your new life is not for everyone, and along the way you’ll change too. I have to say that some of my best friends are women who live “this” life. They are strong, courageous, badass moms who live across the globe but are always here for me whenever I need them. They truly understand the battles, and they wholeheartedly celebrate the triumphs along with me. For me, I became a better version of me. I love deeper. My days are filled with gratitude for the little things. My bonds with my tribe are stronger. I no longer focus on the things I used to, frivolous or not; the things I find important in life have changed. Moments. Smiles. Giggles. Change. I’ve learned to embrace it all. Even the moments of tears. There will be plenty of those, but I feel those moments have made me stronger. They make me want to fight harder, learn more, teach more, and love far more fiercely. It won’t be easy. It won’t be fair. But it will be worth it. Find the joy in the journey. It’s there. I promise. Love, A member of your tribe Follow this journey on Christopher’s Journey with Courage Determination and Grace.

    Losing a Child With PMM2-CDG, the Same Disorder as My Son

    I know my son lives with a life-threatening disorder. Many days this reminder doesn’t live in the forefront of my mind, but it does always live in the back. There are days that are harder than others to push it down, especially when we lose another of our community. While processing another loss, our son’s disorder PMM2-CDG, sneaks up on me like a dementor and whispers in my ear I can take him too. Uncontrollable tears ensue. While this dementor looms over me I can’t help but feel helpless and afraid. I begin to feel terrified of my child catching a cold while shopping at the grocery store. I anxiously think about our next inevitable hospitalization. I start to worry more and more about making the decision to send him to preschool. More than anything I want him to learn and grow, but above all I want him here. Alive and healthy, looking up at me with his ever-so-charming grin. Along with the fear there’s anger. I am so angry our life is one of unknowns, worry and loss. Life is unfair, and I understand there’s no way to get around that. I also know living a life with a medically complex child is not for the faint of heart. I am so angry at our CDG dementor that I want to kick and scream at him, but as I do this my fists go right through him. Fighting him is futile. No matter how hard I try, nothing changes, he stands strong and tall sneering at me. He refuses to leave, reminding me we aren’t immune to him. Sadness, fear and anger overwhelm me, but that’s not all I feel. Admitting my relief is one of the hardest statements to make. I want to take those words back, but I wouldn’t be being honest with myself. My tears fall on my son, and relief washes over me. He is here. I can feel his clammy hand on my face and kiss his soft cheeks. I try to stuff the relief down inside me because I know that guilt is soon to follow. I feel immense guilt that I am relieved. I am holding my son, gazing into his eyes while there is another family saying goodbye to their angel. As I rock him, our dementor lingers close to me, never straying far. I shed tears for another loss, put myself in the shoes of the parents and sob. Through the tears I start to feel courageous. I can’t let the dementor get the best of me. I can’t let my fear take over. I pick myself up and remind him we are strong and we will persevere no matter how much of a bully he is. I remind him I won’t let my fear control me, and because of him we will make a difference. I remind him I will take each day as a gift and know there are no guarantees. We will make changes because of him. We will become better because of him. I thank him for teaching me to love deeper and live fuller. I stand tall and show him this is a fight I will fight, and win or lose, our fight, my son’s fight, will be worth it. With this, he starts to retreat. No longer is he taunting me with the ultimate fear of losing my son. As our dementor slowly takes his place in the back of my mind I am reminded life is so precious. Life is short, and no matter the journey, make it worth it. Give a few more hugs and kisses. Eat ice cream in bed. Share your gifts, whatever they may be. And never, ever, take anything for granted. Follow this journey on Christopher’s Journey with Courage Determination and Grace.

    Choosing a Feeding Tube for Our Son With PMM2 CDG

    I will never forget our first appointment with our son’s gastroenterologist. Our son was 9 months old and barely over 9 pounds. We went there with the intention of discussing placing a feeding tube for our son. Our efforts to help him gain weight were futile. We tried adding calories. We tried more meals. We were exhausting our options. Feeding time was extremely stressful. In the beginning he nursed and he took bottles, but he fatigued quickly. We resorted to feeding him with syringes when he would no longer drink out of the bottle. As he screamed and tears fell down his face as well as mine, I kept trying to feed him. At the time we had no idea our son had a rare genetic condition, PMM2 CDG, where weight gain can be extremely difficult. Not only was weight gain very difficult, he was developing a severe oral aversion which he still has today. Failure to thrive has been an old friend of mine for nearly three years now. “Do you want to be admitted to the hospital today?” his gastroenterologist asked, minutes after we met her. Wait, I thought. What? Today? This was supposed to just be a discussion. As his mom, placing the tube felt like I was giving up. I’m supposed to be able to feed my child. I am supposed to be the one to help him thrive. I didn’t want to fail him. At that moment, that was exactly how I felt. As his mother, I was failing. We were admitted to the hospital two days later and went home with brand new hardware, a Mic-Key button. Looking back, the only regret I have is not placing the button sooner. I now realize I wasn’t giving up. I was listening to what he needed. In order for him to thrive, a feeding tube is what his body needs. In order for him to gain strength and weight, this is what his body requires. I can provide him with all the nutrition he requires with less stress, no tears, and fewer worries. I have the ability to hydrate him when he’s ill. I can give him all of his medication without anything being spit down his shirt or on my face. I can hold him during a feed and look into his smiling face. I know there may be other parents on the fence. You may be telling yourself that you’re giving up. You may be feeling like a failure, but let me tell you that you are absolutely not failing. You are in no way giving up and taking the “easy way out.” You tried. I know you did. You are continuing your journey with a new piece of hardware. You are pushing on and pushing forward. You are making a decision, and for us, I am confident that our decision was the right one. As parents, we want to be able to provide all that we can for our children. Feeding our children is one of the most natural and instinctual behaviors. I’m just doing it with a little button, and a whole lot of love. Melissa’s son Follow this journey on Team Christopher S. The Mighty is asking the following: What’s one thing you thought on the day of your or a loved one’s diagnosis that you later completely changed your mind about? 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.

    My Child Is Not 'Broken'

    An old friend of mine would occasionally call her child with medical complexities “broken.” I would smile and go along with her, but it always bothered me. I do understand the need to have humor in our lives. I understand that people all cope differently under stress and unusual circumstances. Believe me, our lives need laughter. But I kept thinking of what she said and thought that if she thinks her son is broken she most definitely thinks mine is too. Our son has a rare genetic condition, congenital disorder of glycosylation (PMM2-CDG). From his head to his toes, he’s affected by his disorder. The list is long, and his needs are great, but I would never call him broken. He may be imperfectly perfect, but not broken. To me, broken things are tossed aside. Broken things are given away in a pile full of unwanted clothes and household goods. Broken things are thrown in the garbage so new, working things can replace them. Broken things are unwanted. At first, the idea that broken items are not kept is why I felt her comment never settled quite well with me, but when I quickly Googled the definition of broken this is what caught my eye: “(of a person) having given up all hope; despairing.” Now this. This is what really struck me. “Given up all hope.” Not. A. Chance. No way. You will never see him give up. I watch him struggle daily to sit and to grasp a toy on the first try, but one thing I never see is him give up. Of course he gets frustrated and cries, occasionally through his entire hour of physical therapy, but he perseveres. When I look into his eyes I see hope. I see determination. He radiates love and joy. There is definitely no despair in him. Yes, his body doesn’t function like it should and there is absolutely no “fixing” it. We don’t know if he’ll walk or talk, but a great friend once told me, “We won’t know unless we try.” And try we do. We try and we hope. My sweet boy with the greatest hair and dashing smile is most definitely not broken. To me, he’s imperfectly perfect. Follow this journey on Team Christopher S. The Mighty is asking its readers the following: Describe the moment someone changed the way you think about 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.

    A Doctor’s 3 Words Reassured Me When I Questioned If My Son Has Too Much Therapy

    My son’s neurologist has always been one of his greatest cheerleaders. I will never forget what she said to me that made me realize she is also one of mine. Our son has PMM2-CDG (also known as congenital disorder of glycosylation type 1a), a rare genetic condition that affects him from his head to his toes. He has a myriad of secondary issues that are a result of his primary diagnosis. At an appointment with his neurologist, we were catching up and going through his day. We went over his weekly private therapy schedule and early intervention home visits. She asked me what we do at home, and I proceeded to tell her all he does to increase his strength and cognition. I told her he was standing in his stander for close to an hour and a half, tolerating the Bronco for about 25 minutes, sitting in a floor sitter and holding his head up for an entire episode of “Bubble Guppies” (thank you, Nickelodeon!), wearing wrist weights for part of the day, laying on a wedge, looking at books and even turning pages, choosing objects when asked to, and so much more. I told her we would soon be heading across the country for him to have intensive therapy for four weeks where he’ll have 80 hours of therapy. She kept writing her notes on her paper as I sighed and said, “I know it’s a lot, poor kid.” She lifted her head and looked me right in the face and said, “No. Lucky kid.” She continued to say how lucky he is that he is being pushed to achieve more, pushed to accomplish all that he can. She said we have a wonderful team of specialists, and we are doing an extraordinary job ensuring he achieves his full potential. Before this conversation, I’m not sure I would have used the term “lucky” when it comes to our son. Not lucky to eventually have no cerebellum left, heart, kidney and liver abnormalities, a blood disorder, hearing loss, vision issues, extremely low muscle tone, hospitalizations from a common cold and so much more. Melissa’s son He may not have been “lucky” to inherit a rare metabolic condition, but he certainly is lucky to be ours. That moment, those three small words, made me realize not only does his neurologist believe in him but she believes in me, too. There are so many days when I question myself as a parent of a child with special needs. There are times when I wonder if I’m doing enough and there are moments when I question if I’m doing too much. I research therapies, look for new ways to help our son with communication or strength, and vow to try no matter what. No one is telling us he can’t or won’t, so we will continue to believe he will. And as luck would have it, he has a mom who will never, ever give up. Follow this journey on Team Christopher S. The Mighty is asking its readers the following: Describe the moment someone changed the way you think about 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.

    I’m Not the Mother I Was ‘Supposed to Be'

    I used to think I would be the mom at the playground sitting on the bench casually chatting with other moms. I envisioned myself holding my coffee talking about planning playdates and new Pinterest crafts. The other mothers and I would laugh and talk about the silly things our children did while calling out to them to remember to take turns going down the slide. We would share recipes for our picky eaters and talk about our plans for family vacations to the Bahamas. My kids and I would skip to the car hand-in-hand when the day was done, grinning from ear to ear. We all have our own thoughts of what motherhood is supposed to be like. We all had a vision of what we wanted to be when we became guardians of amazing little people. I know what I wanted. And I know that what I wanted was not what I got. The second child I had planned in my head while carrying my first was not the child I was blessed with. He needed a different kind of mom. My definition of what a mother was “supposed” to be had to change. I already had an older son so I thought I already knew about motherhood. I kissed boo-boos, read bedtime stories and knew a love beyond measure. I captured every “first” in a photo (or 50) and thought bath time giggles with foamy bubbles were completely adorable. I remember praying and thanking God for my extremely healthy child. Our second child was born with congenital disorder of glycosylation type 1a (now known as PMM2-CDG), a rare genetic disorder that scared us immensely. Although we didn’t have an official diagnosis until he was 9 months old, a part of me knew from the start that he was special. When he was 8 weeks old we had to call an ambulance after I found him barely breathing in the middle of the night. The emergency room doctor looked at us and told my husband and me that he was close to death. That’s when I knew he needed a new kind of mother. He required a fierce mom. He required more than a boo-boo-kisser and playdate planner. I knew he needed me to change my definition. I changed. I will fight for my child to do something other parents take for granted, things I took for granted with our first son. I look back at the bath time photos with our older son and never realized how truly amazing those are. What I wouldn’t give to see our little guy sitting in a tub full of bubbles with a cup on his head! My eyes well up with tears at the thought of hearing his squeals as he splashes around. He’s getting close to 3 years old and still cannot sit unassisted and only occasionally makes a purposeful splash of water in the bathtub. My life is not sitting on park benches and catching up with other mothers. My days are spent blending food, checking blood sugar and timing bolus feedings. My afternoons are spent at speech, physical and occupational therapy appointments with one of many specialists sprinkled throughout the month. Our house is filled with special equipment to help our son gain strength to someday sit and stand. He has tiny supra malleolar orthotics (SMOs) and a “super suit” that looks like Spanx on steroids. My evenings are time for research about the next super food or alternative therapies while trying to fundraise to get our son the things he needs that insurance won’t cover. My night is spent setting his pump and refilling his feed bag with a blood sugar check in the mix. I am not what I thought I would be. My definition of motherhood changed. I am still the mother who reads bedtime stories and colors with sidewalk chalk. I’m still a mother who loves beyond measure, but this mother is fierce. The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, and what would you say to teach them? 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.

    Special Needs Moms: Losing Your 'Old' Self

    The other day I was reading a post reminding parents not to lose themselves or forget who they were before they became a parent of a child with special needs. The article was telling parents to make time for the things they loved and the friends they laughed with before their world completely changed. I understand the intention of the article, and I truly do get the thought of “losing” yourself. I went to bed thinking of my old self and the person I was before our youngest son came along. Our 2 and a half year old has a rare genetic condition, PMM2-CDG. His disorder affects nearly every cell and body system. He fights for every accomplishment, every milestone. He is still unable to sit unassisted, is “failure to thrive,” doesn’t say a word and has the most magical smile you will ever come across. I thought of the time when I didn’t know medical terminology, have strong connections with other parents of children with rare disorders, friendships with people across the globe and involvement in advocating for children with extraordinary needs. I never met with specialist after specialist, checked blood sugar, set feeding pumps or drove to daily therapy appointments. That was not my old self. My old self was worried about losing 10 pounds, acquiring the latest handbag and making plans for a night out. Don’t get me wrong, a couple of those things are still on my list, but they are nowhere near the top. I am most definitely not who I was before, and I’m not going back. This is the best self I have ever been. Yes. This new self who is exhausted, barely has time to shower and sheds countless tears because life simply isn’t fair. This new self who never gets a full night’s sleep, feels alone most days and prays for little things others take for granted. This new life is a journey that requires a new me. I lost myself and became someone new. The person I am now is a much better version of me. I am not who I was before I had our son and honestly, thank God I’m not. Thank God I did lose myself. I have lost myself in our daily lives. I have lost myself in relishing little smiles and laughter. I have lost myself in celebrations that most parents wouldn’t understand: a purposeful splash in the tub, a giggle that gives you goosebumps, rolling over to reach an object. I have lost myself in appreciating those around us. I have lost myself in fighting for our son. So I confess. I did lose myself, and I’m completely fine with it. Follow this journey on Team Christopher S. The Mighty is asking the following: What’s one thing you thought on the day of your or a loved one’s diagnosis that you later completely changed your mind about? 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.