Rhizomelic Chondrodysplasia Punctata

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Rhizomelic Chondrodysplasia Punctata
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    What's New in Rhizomelic Chondrodysplasia Punctata

    Receiving a Rhizomelic Chondrodysplasia Punctata Diagnosis

    Crystal’s daughter, Marley. My daughter Marley was born with an extremely rare disease called Rhizomelic Chondrodysplasia Punctata (RCDP). It affects less than 100 children worldwide and is most often terminal by the age of two. Although Marley’s life has not been without complication (she has had 30+ surgeries on her bones and brain and eyes and has an eye disease that has the possibility of taking her vision entirely), she has beaten the odds for her disease and we have every indication that she will continue to thrive. The letter below was written on the day of her kindergarten graduation to the original physician who diagnosed her. Dear Doctor, It’s been six and a half years since I staggered out of your office carrying the weight of an awful diagnosis for my newborn baby. You said our only answers were morphine and hospice and that the chances of seeing a first birthday were slim to none. We haven’t been back to see you since. Today that baby graduated kindergarten and you were on my mind. While the road hasn’t been easy, and she has in fact had more than her fair share of pain requiring an occasional dose of morphine, she is now not only surviving, she is thriving. This little girl who would “never reach any appropriate milestones” has progressed from smiling to laughing to non-stop talking in the blink of an eye. She first rolled over, then crawled and now runs everywhere she goes. She has enamored an entire town and considers all who live here her personal fan club. She automatically assumes everyone loves her and rarely meets someone she doesn’t know. However, if she does, she is quick to say, “Hi! Im Marley Bedford! Whats your name?” She has an unbelievable amount of joy. It spills over into every interaction she has. She is perfection. Even in her misshapen bones and her failing eyes, she is perfection. If the rest of the world had the tiniest portion of her happiness and love for life it would be a totally changed place. The day you shattered our world with your dire predictions, you forgot to offer us the one thing that has carried us through time and time again. Through surgeries and uncertainties, through PICU stays and hundreds of hours of therapy, through triumphs and complete and total failures, our saving grace has been hope. For everything you know about medicine and all the tools you have to fight disease, you have forgotten that the most powerful tool of all is hope. I pray the next time you have a patient with a life-changing, terminal diagnosis you will remember Marley, and reassure the new family that regardless of what the paperwork or diagnosis may say, there is always hope. Hope is not only everything, sometimes its the only thing. Follow this journey on Smiles for Marley Facebook Page The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability, disease or mental illness. Check out our Submit a Story page for more about our submission guidelines.

    Colby Jackman

    What It's Like To Be a Mom Who Can't Fix Her Child's Condition

    Every parent wants the best life for their child. You read all the books and follow the doctor’s orders because you know every choice you make with affect your child. You’re in control, you make the rules; it’s your job to protect your baby from everything harmful in this cold world. But what happens when the day comes — your little miracle arrives into this world as perfect as anyone could ever be — and the doctors tell you that, no matter what you did or how hard you tried, one of the worst things that could happen in this world has happened to your baby? My little miracle, Sophia, was born May 9, 2013, and only a few days later, doctors told us she has a rare genetic disorder called rhizomelic chondrodysplasia punctata (RCDP), and it would be a miracle for her to see her first birthday. Being told that no matter what I did would not of changed what Sophia has made me feel like I’d failed as a mother. Being told that Sophia would have to face major challenges in her life that I had no control over motivated me more to make it my mission to give her the best life possible. Most parents would be teaching their children life skills — crawling, walking, talking, eating on their own but not me. I’d be teaching Sophia the joy of life. I’ve had to watch my baby girl get IVs, a feeding tube, MRIs, X-rays and surgeries. In the beginning, when I was alone, I made this perfect picture in my head of how things where going to be.I can’t teach her how to change her brain from being different. There’s no contact number to call that will change the way her eyes work. There’s no manual on how to change her appetite. No matter how many kisses I give her, some boo-boos will never go away. I can yell at RCDP all I want for putting her through this and one day cutting her life short, but it’s not going to listen. As a single mother with a special needs child, your drive to protect them never goes away, and knowing RCDP is something that can’t be fixed drives me insane. I’m learning — slowly — to change the picture I had in mind. Because every time Sophia laughs or smiles, I know it’s because of me, every time she breaks the odds, I know it’s because I was there. I don’t think there’s anyone in this world who could smile more then she does. Even with all the bumps in the road, she always finds away around them. You can’t measure the amount of love I have for this little girl. She’s why I get up every morning, and knowing she’s here with me is why I sleep at night. 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 .