Hunter Syndrome

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    Supporting My Child With a Rare Disease, Hunter Syndrome

    My hands have encountered a lot of trauma. My hands have given my newborn baby to a NICU nurse when he turned blue. My hands have slightly brushed my baby’s leg so he could feel my touch while on a ventilator. My hands have held my baby hooked up to multiple machines and wires. My hands have carried my child into the emergency room countless times. My hands have had to hold down my child for testing and labs. My hands have come together and prayed for a miracle countless times. My hands have beaten my steering wheel when I’m having a breakdown. My hands have wiped many tears off my face through this rare disease journey. My hands have typed many emails and filled out many forms. My hands have laid over my child all night to make sure he didn’t stop breathing. My hands have stroked my child’s face and told him it was going to be OK even though I didn’t know that myself. My hands have put oxygen on a million times, made thousands of g-tube feeds, and drawn up lots of medicine. I would truly be lying if I said these hands didn’t have immense trauma. Oh, but they also hold so much love. My hands have witnessed miracles. My hands have felt my baby move when he could barely breathe. My hands have cuddled the most precious superhero on this earth. My hands have danced with my miracle. My hands have been held by my resilient boy when he learned to walk. My hands have clapped after my miracle has proven many people wrong time and time again. My hands have reached for the sky to thank God for another day with the best boy in the world. My hands have typed these posts to raise awareness. My hands have had the opportunity of a lifetime to be in the hands of a warrior. So while my hands have faced trauma, they’ve also encountered unconditional love.

    Community Voices

    What matters most in your rare condition?

    <p>What matters most in your rare condition?</p>
    2 people are talking about this
    Kathi Hunter

    Cowden Syndrome Facts: What to Know

    If you’ve read my story with having two cancers in four years, you’ll know that after having my first cancer, I found out I have Cowden syndrome. If you ask the average person, they’ll likely tell you they’ve never heard of it. So, here’s a reminder. Cowden syndrome is also called PTEN Hamartoma syndrome. Your PTEN gene is your tumor inhibitor gene. It causes growths, benign tumors, skin tags, thyroid goiters, hamartomas, vascular issues, enlarged heads, and puts you at risk for many cancers. Once diagnosed, your doctor will want to refer to many specialists who will want to watch you closely to make sure you don’t develop cancer — or if it does come around, it’s caught early. As someone who has dealt with this for going on four years now, here are five things I want people to know about Cowden syndrome. Every year, I go through what I like to call “testing season.” My skin is checked for anything suspicious. My thyroid is scanned via ultrasound. I used to get mammograms, but then I went and got breast cancer. I have colonoscopies. (I had 37 polyps this time around, and my doctor feels I need to do them every year now. My soul is still weeping at this news.) This period of my life is something I live with, but it’s not easy. If you’re a cancer survivor, think of your three, six, yearly check-ups, but done all at the same time. It’s something we have learned to live with, but anxiety during this time is real. Testing season is exhausting, but the alternative — getting a third cancer and not finding it before I need chemotherapy or radiation, or God forbid, it kills me — is much worse. It’s not unusual for people to remove parts of their body to avoid getting cancer. I know people who have had preventative mastectomies, hysterectomies, even thyroidectomies because they did not want cancer. I used to think this was extreme; why go through surgery if you don’t need to? But now, after having undergone so many tests and being watched so closely in the name of preventing a third cancer, I see why some people take this measure. Sometimes, the lesser of two evils, removing a body part to make sure you don’t have to face a cancer diagnosis, is the best choice. Hamartomas are not the same thing as blackheads. As a teen, I thought I had an excessive amount of blackheads on my forehead, nose and parts of my cheeks. I later discovered they were hamartomas. They don’t go away, no matter how hard you wash your face, scrub it, or pick at them. My dermatologist has even said burning them away is pointless, they just grow back. Not everyone has “bad skin.” Sometimes, they’re dealing with something much more complicated. Cowden feels like the gift that never stops giving you gifts that you cannot give back. I have had a goiter in my thyroid since I was 22. I have pretended I was the earth, and the skin tags that invaded my neck, under my breasts and legs were the trees, sprouting up throughout my body as a way to deal with all of these skin tags for years now. I have had two cancers because of Cowden, and some days I am overwhelmed because I keep thinking about the possibilities of what will happen next. Next year my thyroid comes out because the nodules are still growing, and starting to cause problems. No cancer is there — but thanks to Cowden, it’s still growing. The last thing I want you to know about Cowden syndrome? It exists. Those of us who have it exist. Back in 1978, when I was born, no one knew about Cowden syndrome, and my doctors were so perplexed they referred to my large head and numerous issues as “Kathi Hunter syndrome”. The more we talk about this condition, the more people will see it and maybe go get tested. The more doctors will learn so they can improve how they treat their patients.So, there you have it. Cowden syndrome. It’s real, it’s out there, and it affects more people than you realize.

    Community Voices

    McDonalds Was Mean to my Special Needs Students

    I teach special education in a self contained setting. My job is truly my passion. I not only love what I do, but I LOVE my students. I spend 9-3:30 with them Monday through Friday and there are very few things I won’t do for them. Advocating and being their voice is one of those things I do for them.

    My school is in a suburb of Chicago. We had planned a community trip to the pumpkin patch on Halloween, but the weather did not allow for that. My heart broke thinking about how sad my students would be. I decided to switch some things around and go to McDonalds instead. At McDonald’s the students work on skills we teach in the classroom. Some examples would be ordering food, waiting in line, and parking lot safety.

    When we got to McDonalds the manager was so rude and told us that if we wanted to come eat there we should have called and asked them. Side note- there was one other person in the restaurant. He then rudely told us that if they wanted kids meals it would take them at least 45 minutes. Again side note- I had ten kids. It’s McDonalds- shouldn’t they be able to accommodate 10 kids meals without making children feel bad for showing up?

    The man continued to be rude not only to us, by also to the other employees. I was in shock.

    If you have a child with autism or work with children with autism you know that letting them play in the play land and then trying to explain that they have to come sit and eat after would be near impossible. We spent our entire time waiting for them to make kids meals. I felt awful and the kids trip was ruined. Not to mention they over charged most of the children for extra drinks.

    I contacted McDonalds many times. I kept being told someone would call me back. The only person to call me back told me she was sorry for my ‘perception’ of what happened. I am sick to my stomach that a company so large and well known is okay with this treatment. I still have yet to hear from McDonalds or at least anyone that actually feels that this behavior isn’t okay. Please share in hopes that someone from McDonalds cares and helps raise awareness.

    #McDonalds #Autism #Autism #AutismAdvocacy #SpecialEducators #SpecialEducation #SpecialNeedsFamilies #SpecialNeedsParent #SpecialNeedsPrograms #SpecialNeedsCommunity #Disability #RespectAbility #HunterSyndrome #GeneticDisorder #InclusionAndSpecialNeeds #BeKind21 #ParentsOfChildrenWithSpecialNeeds #DisabilityAdvocacy #IntellectualDisability #Teachers

    8 people are talking about this

    Going to Doctor's Appointments for Your Medically Complex Child

    We all know a chair. We’ve probably encountered the chair multiple times, I know I have. Sometimes we get good news in the chair, sometimes we get bad. I’ve laughed in the chair and I’ve cried. I’ve begged for people to hear me out and I’ve had doctors respect me while sitting in the chair. I’ve prayed in the chair and I’ve lost my faith a few times in the chair. My first surreal encounter in the chair was when I took this picture. This is your view. It’s not always this extreme but you feel helpless every time you have to sit in a chair and get this kind of scenery. Easton was just a few days old when I got the news that he had severe pulmonary hypertension and had to be put on a jet ventilator with nitric oxide. I did not know I would sit in that chair for 31 days watching my child fight for his life every day before moving on to the next chair. The next chair was at Brenner’s Childrens Hospital in the ED. You see, had it not been for one of Easton’s NICU nurses, he probably would have died after coming home. I had pediatric experience, but I was no doctor. I was a scared first-time mama of a NICU baby. I was being “over-protective” said two pediatricians. My baby’s breathing was fine, maybe a milk allergy. But I had my first mom gut instinct that it wasn’t. So I sent a video to one of my son’s old nurses and asked her opinion. She said to get him to the hospital as soon as possible. I did. By time we got him there, he was turning colors. He was desatting in the 60’s and 70’s and I sat in a chair while watching a nurse rock my baby back and forth to get him to calm down and breathe. We found out Easton had aspiration pneumonia; he was put on thickened formula and sent home. I thought that was my last time in the chair, but it wasn’t. For months after that, I went chair to chair in specialist’s offices. I had a few good ones here and there. We had an exceptional pediatrician who listened every time I said, “Dr. M., I really think they’re missing something here.” Orthopedics, pulmonology, genetics, cardiology, ENT, gastroenterology, neurology — he already had all the specialists by time he was nine months old and had went through multiple tests and procedures. I started to think maybe it was all in my head until one day I was called in to sit in the chair, only to find it would be the most heartbreaking day of my life. It was a spine specialist who saw my child’s X-ray and immediately said, “He needs to be tested for MPS.” It was a simple urine test they said would take two to three weeks. If that was normal, our next step would’ve been the WES test. But it wasn’t normal, so while I sat in a chair in the neurologist’s office on November 8, 2017, I saw her and Easton’s complex care doctor come in. I knew. I knew that the extensive research I did, all the worrying and everything I had to put Easton’s body through, I was about to get a diagnosis but a heartbreaking one. His neurologist said, “Everything looked normal, until…until his GAG urine screen which showed extremely high levels of dermatan and heparan pointing to a diagnosis of MPS II-Hunter syndrome. A blood test later confirmed the diagnosis. I remember the doctor looking over at my mom who came with me, asking, “Do you know why your daughter is so upset? Easton has a disease with no cure. He will only have a life span of early teens, if that. He will get enzyme treatments for the rest of his life but this will not stop the neurological decline.” I remember his complex care doctor looking at me and then giving me a hug and saying, “I’m so sorry, we will do whatever we can to make his life comfortable.” He was only 10 months old. I sat in a rocking chair that night and rocked him to sleep, singing you are my sunshine, but every-time I hit the words, “Please don’t take my sunshine away,” I bawled. I sat in the chair that day and grieved my son as if I had already lost him. The next chair was at UNC Children’s Hospital where one of the most knowledgeable doctors in MPS practices. I sat in that chair and learned that yes, Easton had MPS, but all of his symptoms were not correlated and he believed he also had something else. That was like a stab in the heart. So my child having a terminal illness was not enough? I felt guilt, horrible guilt. We proceeded with more testing which did not find anything. More and more chairs in between while Easton had his port-a-cath and G-tube placed, more specialist appointments, ED visits and hospital admissions. One after another after another… each explaining how rare and complex my child was. In August 2018, I took Easton to a clinical trial in Pittsburgh. This was it. This was Easton’s chance at life. I sat in the chair going over all of his history. He was young, he was involved, he needed this cure. I sat in a chair thinking my son was going to get gene therapy and save his life. But the call later came that he did not. He was actually too involved for a pharmaceutical company to take the risk of him. More and more chairs in between while Easton had surgeries, testing, more specialist appointments, ED visits and hospital admissions. One after another after another… each explaining how rare and complex my child was. I’ve had to sit in that chair so many times. It never gets easier. I’ve had to do it multiple times in the past few months, watch my child not act like himself, watch him breathe heavy or act in pain. I’ll have to sit in the chair for the rest of Easton’s life, but I’ll continue to do it for my superhero who needs me. He needs me to be strong and he needs me to advocate for him. To all the parents who have sat in the chair, are sitting in the chair or will sit in the chair, I am praying for you and I am here for you. Advocate like no other. Love beyond measure. Take care of yourself. The chair is no comfortable place to be, but home is where my heart is.

    Community Voices

    Heartbroken X2

    Thank you for writing this. We have 2 boys with Hunter Syndrome. Would love just once if they had friends or even get invited to a birthday party. As they get older no one wants to be apart of them and it hurts especially being a dad. We try to navigate their lives to make them as normal as the rest of the social circle but when we are excluded from gatherings it just reminds us that we are different. Im sure some of you experience our daily lives. #x2

    Melissa J Hogan

    How Southwest Airlines Helps My Frequent Flyer With Hunter Syndrome

    When someone says “frequent flyer,” we usually think of business executives, salespeople or anyone who travels a lot as part of their job. When we look around a plane, we expect to see people headed to meetings. We hear families talk excitedly about their upcoming vacation. We sit next to travelers headed to visit friends or family. My 10-year-old son got his frequent flyer number when he was 2 years old. We knew he’d need it. At 2 years old, our son Case was diagnosed with a rare disease called Hunter syndrome, or MPS II, and one of the world’s leading doctors for that disease was several states away but only a direct flight away on Southwest Airlines. That first flight was a challenging one for him. Not only was he only 2, but his disease causes cognitive delay and behavioral challenges similar to combining autism, severe attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD) and sensory processing disorder (SPD). He pulled the tray up and down. He buckled and unbuckled his seatbelt. He kicked the seat in front of him. He yelled. He fussed. He spilled his drink and his food. So when, a year later, he qualified for a clinical trial that would involve taking that same flight over and over and over again, there was a pause to consider if we could manage it. How would I control him on those flights? How could we get our bags where they needed to be and keep him from running away? Would everyone we sat next to ask to be moved? Despite knowing the challenges, we couldn’t say no. Hunter syndrome causes progressive loss of cognitive and physical function with an average life span in the early teens, so we knew we had no time to waste. This clinical trial, the first of its kind in his disease, was going to be our only chance to save him. We’d have to make the travel situation work. Thus began our odyssey of flights and hotels, surgeries and appointments. In the first four years of the clinical trial, we flew on over 100 Southwest Airlines flights and spent more than 250 days away from home. We brought lots of luggage for 9-day trips each month as part of the clinical trial My son made friends with everyone from TSA agents, to gate check employees, flight attendants, to curbside baggage attendants. But he relished in the kindness and helpfulness of the crews with Southwest Airlines. They were never impatient with him. They played along when he told his stories that didn’t quite make sense to anyone but him. They helped me with our awkward bags filled with attention-occupying electronics, toys and snacks. And they didn’t shy away when they could tell I’d been crying. So when I saw yesterday, on our gazillionth flight home, that they wanted people to share their stories in a #175Stories social media campaign, I knew we had to share. Check out Case’s Southwest Airlines story. We want to hear your story. Become a Mighty contributor here .

    Ger Renton

    Hunter Syndrome: A Death Affects Everyone in Our Community

    I have not lost my child to Hunter syndrome — yet. Even though I type the word “yet,” I gloss over it my mind. For me, “yet” equals years and years. It’s not worth thinking about in any other terms. I simply can’t. But when I read about a boy named Tucker who just didn’t wake up, my mind begins to wonder. I can feel the pain of Tucker’s mom. Tucker is forever 15 now. Although I never met him or his parents in real life, I knew them through an online Hunter syndrome support group. While parents of children with Hunter syndrome know what will happen to them, we’re never prepared. Ever. How can anyone be prepared for losing someone they love, especially if that someone is their child? There is no crash course. There is no “how to.” There is just grief, shock, pain, heartache and darkness. I cried for Tucker, for his mom, Casey, his dad, Jason, his brother, Dylan, and all of his extended family. And I cried for all the moms who share my path. I cried for me, too. It was also another little boy’s birthday — Logan. He would have been 13 had he lived. 13. I cried for his mom and his family and for Tucker’s mom and family again. How does Logan’s mom carry on? How will Tucker’s mom carry on? And then a seemingly selfish question popped into my head: How will I carry on? How does any parent carry on? I don’t know. I imagine the only people who know the answer are those who have lived through it. I don’t want to know, but Hunter Syndrome doesn’t care about what I want. It’s a relentless condition. A greedy, sneaky condition that takes our children away in the middle of the night, or it waits until our children have nothing left to give. I know a lot of parents will be cuddling their kids extra tight because Tucker left his family without warning. There is a whole community grieving. We’re grieving with a family who lost their 15-year-old boy. We’re all hoping and praying it won’t happen to our children, but in the deepest darkest hour of the night, the realization hits us and we know. The story of Tucker and Logan’s passing and those who left this earth far too early may never make it into mainstream media. And they may never be a major campaign to help find a cure, even though there is research and a clinical trial. This rare disease simply isn’t affecting enough people, and that is also the harsh reality we families have to live with. A version of this post was originally published on geraldinerenton.com. Lead photo source: Thinkstock Images

    Melissa J Hogan

    Learning to Accept a Hunter Syndrome Diagnosis

    After having three children in three years, I thought my life’s plan was pretty well outlined. And I was pretty happy about it, in between the diapers, screaming toddlers and late night laundry. My husband, my three boys (and maybe, just one more…) and I would grow up, laughing and running, teaching and learning. Living life. The problem with that was — I wanted to live the life I expected. Two years later, I was driving more than 90 miles an hour. Medians, guardrails, they flashed by me one after another. I didn’t really notice, other than the split second thought that if I ran into one, the pain would stop. The pain that was literally ripping my heart out of my chest. My child was going to die. A rare disease called Hunter Syndrome would take his life. It might as well take mine. The thought didn’t sprout legs and grow. I didn’t become best friends with Self Pity, but I did sit at her table quite often, lingering over a glass of “woe is me” and a heaping plate of hopelessness. She was a bitter companion. Sometimes other friends would join us, friends also affected by rare diseases and special needs, stolen hope and impending loss — with children healthy one day, then dying the next. We shared a commonality – our lives felt “stolen.” The lives we thought we would have. We didn’t necessarily agree about who had “stolen” it. Some thought it was God, others thought Fate. Still, others thought it was the pesticides or the additives. It didn’t really matter. Blame wouldn’t change it. But Self Pity was more than happy to talk about all the possibilities of whose fault it was. But as we sat there, sometimes we’d glance at those milling about, not joining us at our buffet with Self Pity. Some had sat with us for a time and now had moved on. They were different. Their personalities were different. Their lives were different. Eventually, we outgrew the table. We had to intentionally extricate ourselves from conversations with Self Pity. We stood up. We looked at our new lives. And decided to live them. Yes, they looked different. They might have greater highs and deeper lows. But they were ours. Part of this changed life was the joy and comfort I found in writing. I never considered myself a writer, but it’s funny how reflection happens over time. I’ve been writing all my life. From “books” in middle school, to essays in high school, papers in college and briefs in law school, briefs and legal opinions as a law clerk, teaching legal writing as a lawyer and writing music for my children as part of momentous (both happy and traumatic) times in my life. Except for the music, all that writing had been about someone else. My son Case’s diagnosis in 2009 and his enrollment in the clinical trial in 2010 generated such emotions that I felt I would burst if I didn’t write about it on a blog that later became the website of our foundation. Much of it was just informative – how to get a wheelchair approved, what is a sensory diet, how the trial was going. Although I shared our story and my perspective, most of the very personal, emotionally raw words still sat in drafts, read only by me. Maybe that’s how it should be, I’ve always thought. But maybe not. In the last year, I’ve acknowledged something I feared to say before. Because when we say we love something, I feel we are at the whim of it being stolen. When we say we want something, I feel we are at the whim of our own illusion. When we declare a goal, we are often subject to the fears of failure and criticism, accusations of exhibitionism and narcissism. I hate “-isms.” So here we go. I love to write. I love to blog. I love to write music. I love to create things that express the emotions I cannot otherwise express, and I hope, that reflect emotions others share but find difficulty expressing themselves. I love to bring joy to others with what I write. Or bring tears because the reader can relate. Or laughter because our life might seem so incredibly ridiculous at times. I once was a lawyer. Or at least my business card said so. I’ll always be an advocate. My child needs it to be so. But I’m now a writer too. If you know me, maybe you’re saying, “But Melissa, I’ve thought you’ve been writing for a long time?” True. But writing was always an adjunct to everything else. A legal writer. A rare disease writer. Of course, all of that will still be part of my writing. And my advocacy work goes hand in hand. But I’m finally embracing being a writer, about all of my topics, whether it’s about my rare disease, parenting a child with special needs, faith, Hunter Syndrome, writing about writing (so meta), or songwriting. Maybe it will be too eclectic for some. Too boring for others. But I’m okay with that. I hope that you will join me for the ride. And I just love to write about it. Has a diagnosis changed your life, career, or goals? A version of this post originally appeared on Melissa Hogan

    Sally Mitcham

    The Positives of Being Labeled With a Diagnosis

    None of us want to be labeled. We’re individuals and want to be treated us such, and rightly so. But is it always something that we should be scared of or avoid? Calling me a white, British stay-at-home mother, for instance, only scratches the surface of what I’m all about, but those labels are still true. They don’t define me, but neither should I reject them entirely. Of course, there are times when labeling others is much more contentious. While there are parents who have fought for years to get a diagnosis and may never find one, when it comes to delays in any developmental areas, some parents can be nervous about seeing their children put in a box and confined to a narrow description. Recently someone on a special needs Facebook group that I’m a member of, posted to ask whether they should seek a diagnosis for their child or not. I answered with a resounding “yes,” and these are my reasons why: 1. It avoids other labels. As much as we might not want our kids to be limited by a label, sometimes it is better than the alternative. My son had the opportunity to start at the local school’s nursery last September, but we had to make the decision back in May. This was before we got his diagnosis, and before we had a My Support Plan (non-statutory document identifying special educational needs) in place. I worried the move from his current pre-school to a smaller room with more children could lead to an increase of his more challenging behaviors — pushing, throwing hitting. I didn’t want him to start out on his school career being labeled as a “problem child,”or “that boy who hits me all the time” or “the naughty one.” Now that he has been diagnosed with Mucopolysaccharidoses (MPS), it is accepted that his behavior is a result of his condition. I’m now looking forward to him starting in mainstream school full-time in September knowing that other children, parents and teachers will be able to approach him with more understanding. 2. It makes getting support easier. In theory, support in education, health and other areas should be available for everyone who needs it according to their symptoms and presentation. However, as anyone reading some of the many excellent posts written for Undiagnosed Children’s Day last month will have realized, not having a diagnosis can make accessing support so much more difficult. Hopefully things are moving in the right direction now, but unfortunately it’s still easier to jump into a box in order to get help. And heaven knows, sometimes we really need that help. 3. It can be a lifesaver. Yes, this is my main reason. When I first tried to get some answers about my son’s delays, I was told that he had no problems and shouldn’t worry. But, I knew he looked a little bit different from his peers and was falling further behind. I tried again and again, and eventually got an appointment with a pediatrician who had more knowledge and understanding of genetic disorders. The fact is, many rare diseases are first misdiagnosed as other conditions or masked by concurrent problems. I’ve heard of other boys with Hunter Syndrome (MPS II) like my son who have gone for years being told their issues are due to autism, or hearing problems or Crohn’s. These are years when their bodies were being progressively destroyed by the build up of waste products, years when they could have been receiving treatment to halt those symptoms. Not all rare diseases have treatments yet and most have no cure, but new clinical trials are coming online all the time. My son is on one now, and if his diagnosis had come any later, it is unlikely that he would have made it through the assessment criteria. If this new drug works, it will indeed save his life. I very much hope your precious child will not receive the diagnosis of a life-threatening disorder such as MPS. But, I would say follow your instincts. If you think there may possibly be reasons behind their delays, it is worth looking into. Although I never expected a label as scary as genetic, progressive and life-limiting, I am so glad we found out now rather than when it was too late. MPS Awareness Day is May 15. The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, 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.