Mucopolysaccharidoses

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    A Letter to Taylor: On Expectations

    You are different than the baby girl I prayed for.

    I wish I could do something. Anything. But instead, I sit here by your bed, watching you struggle to be comfortable, listening to your cry. The doctor told me yesterday that this could go on for years. What a horrible thought driven into my head. Years of this? I didn’t think I could handle even a few days after your diagnosis, yet here we are, 22 years of living with #Mucopolysaccharidoses. That word has been so many things in our lives. A disease. A curse. A joke. A prayer. A blessing.

    You’ve never been able to logically understand a lot of what happens in this world. Yet you’ve made it a better place. I decided to start writing these letters to you because I don’t know what else to do. I’ve been told not to worry about writing right now, to focus on spending time with you, yet there is very little we can do together. We listen to music because you’ve always loved it. I’ll be honest; I don’t sing nearly as much as I did when you could sing too. And we still watch the Food Network. Food has always brought you joy. Me too. It’s interesting how life goes on, even when death hovers.

    Yesterday was Halloween. Daddy and I went trick or treating with Samuel and Tessa. When you were four years old, you dressed as a neon clown. I can still see the rainbow wig bobbing back and forth as we walked through the neighborhood. You had such a cool way of shortening your thanks for the candy. Instead of saying “Thank you,” you always said, “Thank you welcome.” It seemed as if you purposefully shortened the conversation, giving so much thanks that you just took care of the “You’re welcome” too.

    I am doing my best not to spend your last days on earth soaked in sorrow. While your body is weak and frail, wasting away, I want to remind you (and myself) of the good days. The joyful, beautiful days we’ve experienced together. Even some of the bad days we’ve had are beautiful. The tapestry of both has weaved a wonderful life and you’ve taught me so much.

    I always dreamed of having a little girl and then you arrived. I thought I would be teaching you ABC’s and 123’s. I counted on showing you all the wonderful ways to live, just as my mama taught me. But we’ve lived a very different life. Instead of teaching you, God sent you to teach me. And I’m so grateful for you.

    Good night, my sweet girl. As long as God gives breath, I’ll see you in the morning.

    Your Mommy

    Seanín Hughes

    What It's Like to Parent a Child With Morquio Syndrome

    She was born at 6:40 p.m. after a 15-hour labor. Her birth was a victory in more ways than one — my first child was delivered via a traumatic emergency caesarean and I fought tooth and nail to avoid the same fate, succeeding in the end with minimal intervention. I was ecstatic. I felt invincible, untouchable, goddess-like in my ability to make life happen. Every mother deserves to feel that euphoria. It does fade, though. You float through the early days in a cotton fog, feeling your way through it all, then eventually, the fog clears and everything looks different. There’s a very strong chance you don’t recognize yourself. Your relationship changes in ways that you didn’t have the capacity to imagine in the before days, or even during the fog. You’ve arrived in motherhood and everything about it feels so much bigger than you will ever be and sometimes — no, let’s be honest here, a lot of the time — this leads to darkness, depression and crippling uncertainty. The majority of women can relate to this and, if you can, I hope you found your way out. That place has a habit of keeping you down. However, there’s another element to parenthood that not everyone sees —  other lessons, other obstacles that aren’t part of the same rite of passage. It’s an entirely different beast, a heavyweight brute that demolishes every last ounce of sense you’ve managed to make out of being a parent. The beast I’m referring to, of course, is rare disease. And for us, its name is Morquio. Morquio syndrome lives in the cells of my daughter. It twists her bones, messes with her respiratory system, and causes her tiny heart to work too hard. With it, nothing happens quite the way that it should, and it never will. We know what Morquio has done to her so far, but we have no way of knowing what it might do in future. All we know is that it won’t ever leave. It stayed relatively low-key in the early days for us. My daughter wasn’t so different — she just didn’t sit up or walk at the same time as other kids her age. After a time, she learned to shuffle along the floor on her bottom, but by then her peers were running wild around playgroups and friends’ houses, so I had to be vigilant in case she was hurt. As she grew older, though, she wasn’t growing physically and she was susceptible to chest infections that regularly resulted in hospital stays; sometimes, she became so ill so quickly that we were blue-lighted to hospital. Hospital staff would mistakenly assume she was a toddler due to her size and I would have to explain, over and over, the minutiae of a disease that I still didn’t understand. However, as time went on, she began to explain for herself, in her own way, because her awareness was expanding. Then, there was the first surgery. Her spine was severely curved, so a specialist in Manchester spent several years assessing her and working out the best way forward. In January 2014, she spent 10 hours in theatre having her spine manipulated and straightened with titanium steel rods. The recovery was excruciating. For weeks, she dealt with immense levels of pain while my heart splintered on a daily basis. Morquio was suddenly real. It swallowed everything. It still does. Every day, twice a day, my daughter takes medication designed to prevent her existing heart condition from deteriorating further, but it offers no guarantees. Every week for four hours, she has a needle plugged into a little port in her chest through which she receives an enzyme replacement therapy. Again, it isn’t a cure and it offers no promises, but it was a hard-won treatment and it offers us some hope. Small mercies, if you will — perhaps some growth in height, less fatigue and muscle pain, enough energy to manage the demands of school and, well, just being a kid. Most of the time, I’m quite skilled at counting our blessings. I like to reflect on what we have to be grateful for because it steadies me, somehow. Rare disease brings with it a lot of isolation, even within the “parent-caregiving” realm, because when you’re around other families dealing with disability, none of them are quite like yours. However, it also brings a particular connection with others in the same boat — a bond that doesn’t give a damn about miles, kilometers, seas, time zones or anything else. It doesn’t even need to be verbalized. Knowing that brings me incredible comfort, and I hope, continues to do so for all families connected by Morquio and rare disease. In many ways, I’m glad that I write, because it gives me an outlet for so many things, Morquio being one of the most significant. In other ways, I wish I didn’t, because the compulsion to get the words out ultimately means engaging with the beast, and that has one hell of an emotional cost. Nonetheless, it’s one that I’ll willingly pay — because that’s what we do as parents. We want to hear your story. Become a Mighty contributor here . Getty Images photo via Nadezhda1906

    Sally Mitcham

    What to Know if Your Child Is Diagnosed With Mucopolysaccharidoses II

    I know that face. The word mucopolysaccharidosis ( MPS) might not have meant nothing to you when the doctor first mentioned it to you. Then you went home to Google it and saw the words “progressive” and “life-limiting.” And everything you knew, everything you hoped for your child, came crashing down. People looking at you going about your daily life might not realize, but if they look closer, they would see something has changed in your eyes. You can no longer focus on what’s right there in front of you because the thoughts racing through your mind are much more real and much more scary. I know, because that was me eight months ago. I’ve been through many emotions in the last few months: disbelief, dawning realization, depression, anxiety, anger, devastation, guilt… You name it, I’ve been there. The worst times were often the periods just before hearing the next bit of bad news. The times when I could almost convince myself that things would be OK, that it was just a mistake in the testing lab, but I just didn’t know. Then I would get hit with it: yes, he does have MPS; yes, it is MPS II; yes, it’s the most severe version of that. The simplest of decisions would make me pause. I would stand in the kitchen wondering what to cook for dinner and still be none the wiser half an hour later. Doing the supermarket shopping once, a particular song came on the speakers and instantly I was sobbing in the vegetable aisle. It felt wrong and unreal that life could carry on around me. You might not believe it, but it has got better. There are more brighter moments now. A meal out. The support from my family. A bit of sunshine. Talking with a good friend. Baileys hot chocolate. Cuddles with my boys. All these things make a difference. And lately there have been two wonderful things pop up in my newsfeed about medical advances, and though both of these cases were different from our situation, it’s a start. Medical advances can and do make huge leaps. Just think, there used to be no treatment for MPS II. Now my son receives an infusion of an enzyme that halts many of his symptoms, and we have just got on a clinical trial for a version that may also halt the progression in his brain. Whether a cure comes in time for him is still very much unknown. But when I look at my son, I see a boy who is busy enjoying life with such vitality and commitment. His warmth draws answering smiles from anyone, and he always has loads of hugs to offer. It may not always be this way, and I know there will be plenty of times I rail against this horrible condition. But for now, I choose to remember the words they told me when I first rang the MPS Society: he is the same little boy he was before diagnosis, and enjoy him for that. The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? 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.

    Rare Disease: When I Didn't Have Hope on My Son's Diagnosis Day

    If I could go back to the day my son, Jacob, was diagnosed with mucopolysaccharidosis type I, I would do a whole heap of things differently. But there’s one thing that stands out. We had been searching for answers to my son’s medical issues since the day he was born. He was consistently in and out of the hospital. By the time he was 9 months old, he was exclusively tube-fed and needed oxygen 24/7. Despite all this, I had convinced myself nothing was wrong and that somehow it would eventually sort itself out. I guess you could say I was living in denial. One day, we were in the room with his consultant, and the words “degenerative” and “life-limiting” kept bouncing around in my head. She told us that without extremely invasive treatment, Jacob wouldn’t live past 10 years old and he’d stop physically and mentally developing at about 2 years old. We had two options. We could put him on enzyme replacement therapy for the rest of his life, which would slow down the physical degeneration but wouldn’t stop the neurological side of things, or we could put him through a bone marrow transplant, which would stop most of the physical and neurological degeneration completely. Because of Jacob’s lung issues, a bone marrow transplant would be extremely risky. I think it was at this point that I gave up all hope. I didn’t want to see anything other than the worst case scenario. I convinced myself he’d never make it through the bone marrow transplant even though inside I knew we had to go for that option anyway. We had to give him a fighting chance at a better life. A year and a half later, I wish more than anything I could go back to that day and tell myself not to give up hope. Some days I can’t quite believe it, but he has surprised everyone. Despite some complications, he made it through his bone marrow transplant. He said his first words over the last couple months and has even started to crawl. His future might be uncertain, but he’s a fighter. He deserves my belief in him. Follow Jacob’s journey on the Facebook page Jacob’s Fight. Want to celebrate the human spirit? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .

    Travis Love

    Mucopolysaccharidoses: When Nurses and Staff Become Family

    I was plenty nervous stepping into the infusion oncology center for the first time, despite already having gone through the same IV procedure at several other hospitals. The staff had never seen or heard of a person with MPS before, and the IV therapy had only been taught to them a week prior. But from that day forward, my life has never been the same. To the nurses and staff — this is a thank you for all those times you watched me pull into the parking lot every week like clockwork (and even witnessing me back too quickly and bounce off the parking structure).  This is a thank you for calling every time I just didn’t feel like showing up. This is a thank you for being a part of my proudest moments, like being one of the first kids in my family to graduate from college. This is a thank you for being there through my most devastating moments, like when my relationship with my fiancée fell apart. This is a thank you for throwing all of those holiday and birthday parties for me and for all the gifts you didn’t have to give throughout the years. I thank you for being there as my disease has progressively taken over my life, for standing by me when I finally lost the use of my legs, for taking time off to show up to the ER when I suffered acute respiratory failure, for protecting me and my family as we trudged through the murky water of hospice care, for not giving up on me, despite what other doctors were saying. Even though we know MPS may eventually take my life, we’re fighting together to make that date further and further out. My family and I will always remember what you’ve done for me, and you’ll always be considered family. For all of December, The Mighty is celebrating the moments we gave or received a gift that touched our lives in a special way. If you’d like to participate, please send a blog post describing this moment for you. Include a photo and 1-2 sentence bio to community@themighty.com .Hint! Some gifts don’t come in packages. Want to celebrate the human spirit? Like us on Facebook . And sign up for what we hope will be your favorite thing to read at night .