Because of the nature and rarity of DC, being diagnosed with it, or having a loved one diagnosed with it, can make a person feel very alone and helpless. Many DC patients and family members are simply searching for someone with whom to talk. When we originally started this website, one of our hopes was to offer that opportunity -- to make it easier for you to reach out to an understanding and sympathetic ear. Still, making that initial call or writing that first e-mail to an unknown entity can be intimidating. We hope that by providing a little information about some of ourselves, we might make it even easier for you to get over that initial hurdle -- perhaps you can relate to something in one of our brief "bios" that makes a certain individual a better "fit" for your situation. Of course, you are welcome to call any of us at any time; we just want you to be as comfortable as possible doing so.
We are just starting out, so this list is likely to grow. Also, many of the people who have posted their stories on the “Family Stories” page are also willing to be contacted; if their e-mail addresses are listed, they have volunteered to be contacts.
So here goes:
Nancy Cornelius graphic artist
My name is Nancy Cornelius and I was diagnosed about 10 years ago. I am 52 years old and I believe I have a slightly milder form of DC than most people do. I spent many years being shuttled from doctor to doctor receiving all kinds of different diagnoses ranging from idiopathic thrombocytopenia to myelodysplasia. Eventually I ended up at the NIH (the National Institutes of Health) whom I credit with keeping me alive and kicking! I am currently on male androgens which keep my hemoglobin high and my platelets at a stable, albeit low, level. I have been on those since my diagnosis. I had both hips replaced 11 years ago as a result of aseptic necrosis caused by this disease, and I just had them "revised" this past Jan, 2011. I have three children; my middle one is 21 and has the disease (see below). My mother passed away from this although we did not know it at the time -- she was diagnosed using slides from a post mortem biopsy. I am on the board of DC Outreach, Inc. and was the original developer of the website. We are always looking for ways to improve and to help you. My e-mail is snaca6@aol.com.
Sean Huiras physician assistant
I was diagnosed formally with DC when the NIH/NCI projects discovered the gene that affects 50% of my family, the TINF2 gene mutation. I am 32 at the time of this posting and have participated with the NIH study efforts since perhaps 2005 along with my siblings. Only one of us has been adversely affected by DC, having undergone a bone marrow transplant several years ago. She is thankfully doing very well now. I and another sibling remain all in all healthy, trying to keep up with screening as directed by the NIH. I'm thankful for all the NIH has done for my family, the education they provide and the network of great people they've introduced to us. I think all of us with DC Outreach would encourage anyone who's been diagnosed, formally or informally, or who knows someone with DC to get in touch with our group. Everyone here has stories and perspectives on how DC has affected them or someone they know. I'm happy to give what answers or information I'm able, or point you in the right direction. Thank you for looking into our group. My name is Sean Huiras and my e-mail is seanhuiras@dcoutreach.com.
Charlie Cornelius college student
Hi! My name is Charlie Cornelius and my mom mentioned me in her profile. I am 21 and a Senior at Villanova University. I found out I had DC when I was about 11 years old and it was scary but so far I have been very lucky and have not had any serious symptoms -- mostly graying hair and bad fingernails. As my mother mentioned, we probably have a milder form of the disease. My platelets have dropped a lot in the past few years but they are still close to 100,000. My pulmonary function tests are starting to show some changes. As I said, so far I am lucky but the disease always looms in the background. I would be happy to talk to anyone who wants to talk, but I especially wanted to be a resource for some of the younger DC patients. My e-mail address is charles.cornelius@villanova.edu.
Robin Huiras Freelance writer, full-time mom
In 1987, when I was 10 years old, I was diagnosed with DC, a diagnosis that was supported with telomere testing by the NIH in 2004 and confirmed with the discovery of the TINF2 mutation. In addition to my brother Sean and myself, we have another affected brother and two non-affected siblings. Although I was diagnosed when I was 10, it wasn’t until my late teens that my blood counts began trending downward. At 25 this trend began to affect my health and I started receiving blood transfusions. A year later the transfusions lost their effectiveness and I began taking androgens. They, too, lost their impact and in 2005 I underwent a stem-cell transplant, with cells from my unaffected brother, at Fairview University Medical Center in Minneapolis. Thanks to having a perfect tissue match, my recovery was swift today I remain in excellent health. I have dealt with rejection issues from the transplant -- a result of my immune system fighting with that of my donor -- but those issues have been minor. I am happy to speak with anyone who has questions or concerns about treatment, transplant or life after transplant. I am by no means a medical expert, but I have been there and fully understand the confusion and desperation than can accompany living with this disease. You can read my full story on the Family Stories page and can contact me at rkhuiras@yahoo.com or huiras@gmail.com
Paige Stauffer Mom of Kimbell, age 6 (written by Nancy Cornelius)
I am writing this about Paige because she would never write it about herself. Paige left a lucrative career in the corporate world a few years ago because she has had to devote herself to taking care of Kimbell’s health issues full time. Because of Kimbell, Paige has become so incredibly well informed about all the bone marrow failure diseases, especially DC that she could certainly rival any doctor. And we all know how there are many, many doctors out there who have never even heard about DC. Paige’s knowledge about this disease, it’s many treatments, the different doctors who are treating it, the different transplant options and facilities is outstanding. She is a walking “encyclopedia” of knowledge and I know she would never say that about herself because she is way, way too modest. Paige also knows her way around the medical system in spite of having many run-ins with doctors who know much less than she does and who have made the wrong call for her daughter with regards to her treatment. She is happy to share her experiences and advice with anyone who needs a little help. Paige can be reached at paigestauffer@hotmail.com.
