Congenital Dyserythropoietic Anemia

Join the Conversation on
Congenital Dyserythropoietic Anemia
75 people
0 stories
3 posts
  • About Congenital Dyserythropoietic Anemia
  • 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 Congenital Dyserythropoietic Anemia
    All
    Stories
    Posts
    Videos
    Latest
    Trending
    Community Voices

    I was just a few weeks old when I was diagnosed with this rare blood disorder. As a child doctors told my parents that they weren't sure of the life expectancy of this type of anemia. My bone marrow does not produce enough red blood cells and the red blood cells that are produced have a shorter lifespan. There is still not a lot known of this blood disorder, long term complications are iron overload that causes organ damage over time if not taken care of with iron chelation therapy and given that the heart has to work extra hard to pump blood around my body it takes a toll on the heart, increasing the risk of heart attacks and other heart diseases like heart failure. As scary as this may seem to someone who is normal and healthy it's just an everyday thing in the life of people with this form of anemia. I start my mornings by checking my eyes and skin for pallor and jaundice, sometimes checking my hemoglobin with an at home hemoglobin meter and wonder how the day will go, will this brain fog ever go away or subside? How long will this chest pain last? Will this fatigue and weakness be as bad or better than the days before? How many hours left till I can get some rest again? How soon till my next blood transfusion? Having my spleen removed to try and alleviate symptoms it's always in the back of my mind, wondering if I'll catch a sickness with the flu season coming on or will I manage to escape it for another season. Living with a chronic illness is tough, no matter how many times you tell yourself to shrug it off and stay positive, there's always a little area in your mind where it pops up during random parts of the day leaving you wondering. So with each passing year I'm thankful that I'm able to work and live my life somewhat normally.

    5 people are talking about this

    How Jesse Marimat Learned to Embrace His Scars

    Jesse Marimat doesn’t think much about the scars that cover his body. “I often forget I have visible scarring on my body,” the 29-year-old said. “I definitely feel them, but I don’t actively see them.” While Marimat, who lives with congenital dyserythropoietic anemia type II, may not notice his scars, it’s not uncommon for strangers to point them out. “I forget people see things differently,” he explained. “I have been pointed at and teased for the way my body looks.” Marimat tries not to dwell on the negative comments he has received, but one particular moment stands out. “I remember being at the water park when I was 20 years old. I was getting into the pool and someone made a comment about the scars on my chest from my mediport.” Marimat was taken aback. He wasn’t thinking about his scars when he removed his shirt at the pool that day. Like everyone else, he was just trying to beat the heat. “I constantly feel pressure to conform to societal norms,” he said. “It’s far less discussed among men, however, body dysmorphia affects us as well.” Marimat, who lives in San Francisco, went through a stage where he tried to sculpt his body in a way that resembled what he felt society’s “ideal” was. After several months of working out, Marimat was healthier and stronger, but his body wasn’t any more defined. “At this point I came to realize health is more important than appearance,” he said. Nowadays, Marimat is proud of the body he has. “I’ve done something for myself and now have tattoos reflecting my condition,” he said. “I am more open to wearing loose clothing now that I have some body art to show off as well.” Read More: This Is What It Looks Like When You Feature Disabled and Chronically Ill People in Magazines Next: Kristen DeAndrade Has ‘Tiny Legs and a Big Heart’

    Jesse Marimat

    Receiving a Congenital Dyserythropoietic Anemia Diagnosis

    Jesse. It took me over twenty years to be diagnosed with a rare blood disorder. I was born before the launch of the Human Genome Project, and misdiagnosed on multiple occasions due to lack of information and resources available at the time. By the time I was 10 years old, I had been misdiagnosed with every blood related disorder under the sun, or so it seemed. I became overly discouraged that there may be no definitive answer to what condition I had or what caused it. At the age of 24, my hematologist recommended genetic counseling in order to isolate any mutations I may have, and possibly find a definitive diagnosis. I was partnered with senior genetic counselor Susan Schelley at Stanford University, to take my case. Initially, I was intimidated and curious as to what this person with a vast understanding of genetics could possibly tell me. How would this be any different from all the other doctors I had seen? Susan was fascinated by my patient experience with misdiagnosis and still being undiagnosed, along with my comprehensive understanding of genetics. It was obvious to her that our doctor-patient dynamic was not going to be the norm. We approached my case using bone marrow slides on two different levels: isolating a gene strand mutation for a potential diagnosis, and sequence analysis of gene strand with deletion analysis — each being sent to two different research based labs. Over a year’s time, from sample to results, Susan and I kept in constant communication and were both eager to share any new information in the relevant field of genetics in the interim time. Susan’s compassion and expertise truly came to light when I received my results. Jesse’s tattoo. The gene isolated was SEC23B, which was analyzed to screen for a mutation linked to congenital dyserythropoietic anemia (CDA), a condition I was never confirmed to have. Growing up it was alluded to but never genetically confirmed, only based on how my condition manifested. She walked me through the results slowly and with precision, in a way to ensure I would understand the implications of the findings, as well as what it meant for future research in the field of genetics and hematology. We found that my CDA mutation was most likely type II. In addition, I have two novel mutations on exons 13 and 19 which have not yet been linked to CDA. Her approach to explaining my diagnosis was professional yet compassionate, as I know she’s had to deliver life altering news to hundreds of patients over the years. I reflect back on that moment in time often, as it has affected my entire life since then. She was with me on my “D-Day,” or “Diagnosis Day,” a day in which as a patient, a doctor will tell you news that will confirm your worst fears, or relieve you of stress and worry. For me, Susan gave me answers to questions I had been asking myself for two decades. Because of her efforts, numerous emails, and hours of discussion, I can finally say with confidence I have a confirmed diagnosis. That means the world to me. She helped to make sense of the chaos that was my condition, and comforted me upon my exaltation of relief in having an answer. She always remained optimistic. Given my unique diagnosis of congenital dyserythropoietic anemia type II, we are currently exploring options for further studies and research in the field of genetics related to this particular genetic mutation. Since being her patient, we have collaborated on a few different projects and have raised funds and awareness together for rare disease genetic research in children. “There is always more we can learn from one another.” Susan and I take this motto to heart. To this day, at the age of 29, I am thankful for Susan’s role in helping me obtain a diagnosis. She helped give me a purpose and the drive to pursue more research and development for gene sequencing. Above all, she has given me hope for the future. Follow this journey on Team Iron Man   The Mighty is asking the following: Write a thank-you letter to someone you never expected you’d thank. Check out our Submit a Story page for more about our submission guidelines.