Dyskeratosis Congenita

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    How Acts of Kindness Can Help Kids With Dyskeratosis Congenita

    This is Random Acts of Kindness Week (February 11-18), serving as an important reminder of the value of being kind to one another. Being kind is of course important — or should be — to everyone, all the time. But kindness is especially meaningful to those parenting sick children. Sometimes, it’s the only thing that gets us through the day. We have learned a great deal about kindness over the year of parenting our child with the rare disease, dyskeratosis congenita. We have found a community of patients and parents, through DC Outreach, who so kindly let us into their hearts. A simple act of kindness can change the course of a day, week or month. An entire life can be forever changed because one person was kind toward another. In our world of medical fragility and uncertainty, acts of kindness — random and planned — are like messages from a higher force telling us “we’ve got your back.” Kindness can come from big things like holding fundraising benefits to help cover medical costs or traveling to visit and help care for a loved one. Simple things like sending care packages and bringing hot drinks to cold hospital rooms put some comfort into our long days. The “I see you” look from other parents, after-hours calls from reassuring doctors and nurses who stay up all night with you. These are acts of kindness that make this isolated world seem a little less lonely. We are far from alone in this struggle. And the ultimate act of kindness can come from someone we don’t even know and may never get to meet: organ donors. The moment I saw those hanging bags full of healthy bone marrow was the instant I truly understood the selfless act behind saving the life of my child. That was when I most deeply understood the meaning of kindness. And that is also when I adopted my new motto: Life is short. Be kind. I challenge myself every day to remember that our time here is limited and we never know when it will end. Filling every day with kindness is a great way to ensure that our time here is meaningfully lived. We want to hear your story. Become a Mighty contributor here .

    Receiving a Dyskeratosis Congenita Diagnosis For Your Child

    Our story of parenting a medically rare child starts with the premature birth of our son, Dax Michael in 2012. After being home from the NICU for a few months, we started to notice that Dax wasn’t meeting milestones and hoped that prematurity was the cause. He was enrolled in physical therapy right away and underwent several big, scary tests. You know the kind. On Christmas Eve 2012, an MRI brain scan revealed that Dax’s cerebellum was small and we were given a diagnosis of Dandy Walker syndrome. This would affect his gross motor and speech skills, so we provided him as much private therapy sessions as possible over the years to help him strengthen his abilities. In 2014, we noticed bruising on Dax’s back, and a blood test showed that his platelets were low (platelets provide the blood the ability to clot). After monitoring his blood for a few weeks, we connected with a pediatric hematologist/oncologist to undergo testing for leukemia. Those tests came back negative and we settled in on an idea that Dax simply had low platelet numbers. We would continue to monitor his levels every month and were instructed that should we see any bleeding that wouldn’t stop, an immediate trip to the ER was in order. In August 2016, I woke up holding Dax, who had a nose bleed. We calmly went to the bath to clean things up but the slow, dripping bleed persisted. The scenario triggered what we had been warned to watch out for, so we drove to the ER. The focus was on controlling the bleeding, which did occur after a night in the hospital. We then packed up for a trip to a town six hours away to meet with our doctor and her team. We again performed a bone marrow biopsy looking for cancer, which again showed a negative result. We knew that he was having “bone marrow failure,” but we didn’t know why. After one week of in-patient care and dozens of tests in process, we were sent home to wait and wonder. By this time, we had become accustomed to waiting and wondering. When your kid is sick, that time is dreadfully painful as many know. However, his sweet face and sunny disposition makes makes it all better. From the beginning of August to the end of November, we waited patiently to hear what exactly was causing Dax’s bone marrow failure. During this time, we learned that a bone marrow transplant (BMT) would likely be needed to cure the instability in his blood and we began the search for a donor through Be The Match. Finally, a genetic mutation was discovered that not only explained the bone marrow failure, but also explained the cerebellar hypoplasia that was previously attributed to Dandy Walker, and his challenges in speech and motor skills. Even his whispy hair and ridged fingernails pointed to this disorder known as dyskeratosis congenita (DKC). Enter Dr. Google, and weeks of trying to understand what this diagnosis meant for our family. We learned that DKC is a very rare condition which centers around short telomeres. Suddenly, we’re learning about genetics and what the heck a telomere is. Apparently, that little piece of DNA is quite critical to a long, healthy life. From the Seattle Children’s Hospital website: Dyskeratosis congenita (DKC) is an inherited disorder. Symptoms include abnormal skin pigmentation, abnormal nail growth, and leukoplakia (white patches inside the mouth). Patients with DKC are predisposed to bone marrow failure, some cancers, and pulmonary problems. We waited five years to have an accurate diagnosis and we are grateful to finally have answers. Now we know why. Now we know what to do. This journey won’t be easy, but with an accurate diagnosis, we have a chance to fully understand what is happening with our son. Note: I don’t suggest Googling your kid’s diagnosis. I only read trusted medical sources, like the Seattle Children’s Hospital’s site, which is where our summary of DKC comes from. We want to hear your story. Become a Mighty contributor here . Gett Images photo via Ohnodesign

    The Mountains That Hold Me Up as I Parent a Medically Complex Child

    I sat on this alpine lake beach eating huckleberry cobbler 341 days ago and whispered, “hold me up” to these mountains as storm clouds rolled in. I had been under a storm cloud of my own in recent days; 35 miles away, my son, Dax, was hospitalized with what appeared to be bone marrow failure. Since Dax’s premature birth, he has faced developmental and health challenges with considerable patience and grace. He endures daily therapies and weekly doctor’s visits, pokes and all. We had settled into what we thought was a diagnosis of low platelets and global developmental delays when suddenly, a 24-hour nose bleed alerted us his blood levels plummeted to a critical level. Our state’s only pediatric hematologist is in Kalispell, Montana, five hours from our home in Bozeman. We had been in her hospital for a week, working to determine why Dax’s blood counts were quickly dropping and pumping him with new blood to keep him stable. As we waited for countless test results, our darkest fears crept into our hearts and our stomachs became deep pits of pain. My husband sent me out on a nature break; since I was in my hometown, I immediately went to this sacred place — Lake MacDonald in Glacier National Park. As I finished my cobbler, I placed my head in my hands. Drops started to dot the rocks below me and I didn’t know if they were rain or tears. Terrifying thoughts swam through my head like the ripples in the lake, stirred up violently with the wind. Indeed, a storm was brewing. Shortly after that first visit on August 2016, Dax was diagnosed with dyskertosis congenita, a rare disorder affecting various parts of the body depending on the patient. In Dax’s case, his cerebellum is underdeveloped causing physical and intellectual challenges, and his bone marrow doesn’t produce enough blood requiring him to undergo a transplant. One year later, here I sit at the same beach, at the same big rock, eating huckleberry cobbler. My son is now 551 miles away in Seattle Children’s Hospital recovering from a bone marrow transplant; I’m on a quick trip to Montana for business and I sent myself out on a nature break.   All things considered, today Dax is doing well. We are doing well. And as I finish my cobbler, I think about the lessons we have learned over these long 341 days: 1. Being vulnerable has great benefits. During the months after his diagnosis, those darkest fears became more real and those stomach pits deepened to what seemed like a point of no return. I really didn’t know if I was capable of feeling anything besides extraordinary sadness. Since Dax’s birth, we had been pretty private about his challenges, but for some reason, I now felt compelled to write and share our complicated and unique story. With every vulnerable share, we made room in our hearts for others. Out with the fear, in with the love. And what love it has been! Because we stepped out from behind the curtain, we experienced much deeper connections to those around us who have helped in immeasurable ways. 2. Being present. Like really, truly present to all of the moments…good, bad and otherwise, because in a blink, that moment is gone and it’s never coming back. We know this in our minds, but sometimes we forget it in our hearts. We get so wrapped up in the logistics of life that we forget to live. Moments of pain feel like an eternity while those of joy seem temporary. I’ve had to learn that each moment, regardless of the associated emotion, is to be appreciated for what it is and protected from distractions of the future. Life is right here, right now. 3. Practicing patience. I say “practice” here because it is a lot of work for me. Just as these park tourists, I just want to get to the good stuff. Right. Now. But the good stuff is worth waiting for, as any explorer knows. I read somewhere that “patience is not the ability to wait, but the ability to have a positive attitude while waiting.” With the help of a strong focus on being present, patience now means seeing the lessons around me and remembering that, as much as I want to be, I’m not really in charge here. 4. The extraordinary power of gratitude. We are guaranteed nothing, and therefore we should appreciate everything from the vast kindness of lifelong friends to the unexpected generosity of strangers. When we pulled back the curtain to let others truly seen our pain, our friends rallied to support us emotionally, physically and even financially. Without that vulnerability I finally embraced, we would be in a very lonely place right now. Last year on this alpine lake beach, as storm clouds rolled in, I held my head in my hands, uncertain of our future and my ability to cope. Today, I hold my head high with my face to the sun, still uncertain of our future but confident in my ability to cope. Those mountains have done a good job of holding me up, but this journey isn’t over. Far from it, in fact. So, I send them one more plea: “Hold me up, giants. Hold all of us up.” Follow this journey daxapalooza.blogspot.com. We want to hear your story. Become a Mighty contributor here .