Dyskeratosis Congenita Outreach was designed for patients who would like to contact other patients and discuss their experiences and treatments.

If you would like to submit your information to contact someone, or be contacted please submit the form located              .   This form will also allow you to submit a story about your experience with DC.


When she sets her mind to something, Robin Huiras, a DC survivor for 30+ years, won’t let anything stand in her way -- including undergoing a bone marrow transplant and having a child. To read her full story, click here.

Jennifer is mother of two boys affected by DC. She is concerned about their symptoms, but hopeful for their futures.  She would love to talk to other parents about treatments and medical care and can be reached at smurfette3811@earthlink.net. Read her full story.

Becky’s son Jesse was diagnosed with DC in 2005 after years of unanswered questions and misdiagnoses. She is grateful for small victories and considers each day a gift. Becky is willing to speak with other parents and patients about DC and hopes that by sharing information more can be learned about the disease. She can be reached at johnsdx@hotmail.com. Click here to read their story.

In August 2006, the life of Lily Jean Wahl, mother of six healthy children, was forever changed when her son Levi was born with a suspected diagnosis of DC. Although Levi has struggled with DC’s effects, he remains a happy child. Lily would love to be in contact with others who share her family’s experiences and can be reached at slwahl1@juno.com. Click here to read her full story.

In 2005, after battling DC for most of his life, Coulter passed away. His mother Nikki carries on his fight today. Read more about them.

Beating the odds again and again, Alexander has fought DC since he was 18 months old. Born in 2000 with developmental delays due to oxygen deprivation in the womb, Alexander finds joy in life’s simple pleasures and continues to make progress despite his health concerns. To read his story, click here.

Without a doubt, Alexander’s zest for life and tenacity are gifts that will serve him well as a DC patient. Like many youngsters with DC, he is treated as a normal child who sees the doctor more than other kids. To learn more about him, click here.

Jen’s son has been dealing with the effects of DC since he was born. She would like to talk to other parents about different treatments and can be reached at bathpirates@hotmail.com. To learn more, click here.

Jenny and Brad Christiansen’s entire family is impacted by DC. Although their son Teddy was only recently diagnosed with the devastating Hoyeraal-Hreidarsson variant of DC, they have been fighting the symptoms of the disease since his birth.  However, he recently survived a very successful bone marrow transplant. Jenny is eager to talk with other families with similar experiences and can be reached at jennyc123@comcast.net.  To read about Jenny and her family, click here.

Daniel Yara is a survivor – not only has he flourished since undergoing a bone marrow transplant in 2000, but his recovery to date from a February 2009 double lung transplant -- required to combat devastating pulmonary fibrosis --has astounded his doctors. While some might imagine two such transplants would slow a patient down, the procedures have fueled Daniel in his fight with DC. Read his full story here.






Family Stories
Alex Pinto
Robin Huiras
Charlie & Nancy Cornelius

Alexander Cook




My name is Jennifer and I’m 33 years old. I have two wonderful boys ages 8 and 13 who suffer from this horrible disease. So far, we have experiences a lot of medical problems with their ears, hair, private areas and lack of weight gain, which has caused my oldest son to not enter puberty!  We have had no trouble so far with their blood, but their nails, hair and skin are deeply affected. We are hoping this as the worst that it gets for them – I’m praying!!!!!!! If you wish to contact me, I would love to talk to get ideas of what other parents are doing to research this disease and what doctors they would recommend us going to see. Please keep in touch!  Right now my boys are doing good – they just both had surgery, but it was minor and they are doing great!!

Sincerely,
Jenn
smurfette3811@earthlink.net
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My name is Robin Huiras. I am 32 years old and was diagnosed with DC, the autosomnal dominant form, 20 years ago. This is the roller coaster story of how this disease has tried to take me down and how I have fought it every step of the way.

Of course, if you’re reading this, you know that you never truly beat DC. No matter how well your treatment is working, how successful a procedure was, it clings to you like a shadow. The thing is, you can choose to live in that shadow, letting its murkiness taint your days and nights, or, you can walk ahead of it, forging a path of possibilities and promise.

I did not always have hope about the future. I did not believe that I would live beyond my mid-30s, surely not see 43, which was my dad’s age when he died of complications arising from the disease. Throughout the past several years, I’ve struggled to believe that I would respond to any treatment. I have tried prednisone, androgens, eapotin, nuepogen, growth hormones and received hundreds of units of blood and platelets. Sometimes I would realize a slight response and felt like I had won a champion prizefighting belt. When they didn’t work, I felt like my bed seemed like an awfully nice place to spend the rest of my life.

That’s how I felt five years ago. At that time, my counts, which had ever so slowly decreased since I was about 18, began to fall much more rapidly. I went from platelet counts of about 15,000 to 10,000, 9,000, 8,000 and lower. My hemoglobin began to fall also from steady 10s and 9s to 8s, 7s, and 6s. Because I had lived so long with low counts – I was actually diagnosed when I was 10 – my body was pretty well adjusted to extremely low counts. But when they fell even more, it affected my life – I got out of breath climbing even a few stairs. When I would practice yoga, using my arms and legs to brace my twisting spine, I bruised. I began needing 10 hours of sleep each night.

My doctors convinced me to begin receiving blood transfusions, which I did regularly for about a year. At first, it was great. I remember leaving the transfusion room the first time, walking quickly and not getting out of breath. That evening, my face took on a healthy-glow that had been missing for the past several months. I remember feeling really warm and understanding then why I always felt a chill.

During this time, I began to be followed by a specialist at Schneider’s Children’s Hospital in New York, who, rightly so, was quite concerned about the effects the transfusions had on me. He was sure that my aplastic anemia issues could be solved by a stem cell transplant. Five years ago, there were few reports of DC patients who’d undergone transplants and within those reports, the results were dire. Of course, at that time, transplants on DC patients were done very differently than they are today. Needless to say, my husband and I were quite apprehensive about a transplant. We thought that I seemed to be surviving alright. I was tired and often bruised, but I still maintained a full-time job as a newspaper reporter, we traveled and took vacations all the time and went out with friends almost every weekend.

But, since I didn’t want to completely overload my system with iron from the transfusions, I agreed to begin taking anabolic steroids, which are shown to build tissues, such as muscle and marrow. Within the first month, I and my doctors, noticed a change. I had so much more energy and my red counts began to go up – which only ever happened after transfusions. We had found the answer to our prayers.

During the approximately 2 ½ years I was taking the androgens, I learned about the NIH’s bone marrow failure study and was introduced to Dr. Blanche Alter – what a saint! I enrolled myself and my family and we trekked out to Maryland for our workup. It was a hard week, physically, mentally and emotionally, but finding Dr. Alter made it worth while.

(As a result of my family’s participation in the study, Dr. Sharon Savage and her colleagues at the NIH were able to pinpoint another DC mutation. The irregularity which causes the form of DC affecting two of my brothers and three of my cousins is located on the TINF2 gene.)

For many people, anabolic steroids are the solution to anemia-related problems. There’s no disputing that they pack a powerful punch and can motivate bone marrow to function where so many other drugs have failed. For me, however, they were not the answer. After about three years, their impact on my marrow began to wane.

Now, more than ever, my doctors encouraged me to pursue a transplant. Given the risk, however, I remained extremely hesitant because no one could tell me if it would work. The risk versus benefit was still too high in my mind – so few had been done and no one could tell me it the process itself wouldn’t kill me. So, I began receiving red cell transfusions again, to boost hemoglobin counts that consistently fell below 6. My doctors wanted me to receive platelets as well, as they never rose higher than 6,000, but platelets disappear so quickly that it seemed counterproductive to me. I began giving myself epoetin injections, which help some anemics produce blood, and nuepogen shots, which work in the immune system, but they did nothing for my counts.

By this point, a cross-country move and my husband’s acceptance of a reporting position near Chicago allowed me to quit my job and work from home. As time elapsed, I spent fewer and fewer hours working, scheduling daily naps into my days. I clustered my errands together, so I never had to walk up the three flights of stairs to our apartment more than once a day because that exertion always made my dizzy and gasp for breath. My doctor, a reputable hematologist at Northwestern University Memorial Hospital in Chicago, told me at every visit that I had to get the transplant, trying to strike some fear into me by saying that I could develop an internal hemorrhage at any moment and because I had so little reserve, I would die quickly. I was walking a very thin tightrope and there was no net to catch me if I fell.

And I did, sort of. In early August of 2005, I began vomiting. I had not been feeling ill, wasn’t running a fever, but didn’t really have an appetite, so tucked myself into bed and wrote it off as food poisoning. I continued to vomit throughout the day, each trip back to bed becoming more difficult. Eventually, I decided it would be easier to stay on the floor, which is where my husband found me when he got home from work. He helped me to the couch and brought me some water, but after a short while decided that I needed to go to the emergency room. Whatever was causing my illness, I was completely depleted. I tried to stand, put on jeans and shoes, but couldn’t rise -- white spots quickly appeared before my eyes each time I tried. Getting down those 3 flights of stairs was out of the question.

As I lay on the couch, waiting for the ambulance, I remember looking at the orange light of the setting sun dance on the wall. It was the most golden light I had ever seen and it shimmered against the shadows cast by the leaves of the large oak tree outside the window. It was mesmerizing. Looking back later, I realized that the beauty would not have existed without the shadow.

In the hospital, it was determined that my spleen had ruptured. Turns out, my spleen, as sometimes happens in patients with bone marrow failure, had begun to take over blood production duties and became grossly enlarged. It was filled with collections of blood called blood lakes and one of them burst. The three units of blood I received three days before had bled into my abdomen and showed little sign of stopping. I was immediately transfused with platelets and blood and platelets and blood and more platelets. The bleeding eventually ceased, but not before I had the realization that I could have died.

The risk or undergoing a stem cell transplant now paralleled the risk of not.

The day after I was discharged, I was on the phone with Dr. Alter, telling her I thought the time had come. She wholeheartedly agreed. I asked her where she thought I should have it done, which facilities had any experience transfusion DC patients, if she personally knew any doctors. She said there were no places in the nation that had performed more than a handful, but said that the transplant team at the University of Minnesota had been making some incredible strides in transplanting patients with Fanconi’s Anemia, a cousin of DC. For me, a resident of the Midwest and native of Minnesota with family still there, including my donor brother, it was an obvious choice.

My husband and I got to work making arrangements, which, after the decision finally came, were relatively easy to make. He requested leave from work under the Family Medical Leave Act and I applied for disability. We set up a benefit fund and asked for contributions, as neither of us would be working for some time and we were going to be maintaining residences in two cities. I told my hematologist at Northwestern of my decision and saw him smile for the first time in our history together. We flew to Minneapolis and met Dr. Jeffrey Miller, who was the leader of my transplant team.

We were scared, or course, I was breaking new ground here, to be sure, but the Minnesota team had every confidence that with a non-myloablative transplant, which in laymen’s terms is a mini-prep and involves far less chemotherapy and radiation than transplants in people with malignant diseases, coupled with a perfectly matched donor, I would have few problems.

I was admitted to the hospital on Dec. 9, 2005 and on Dec. 15 I received my brother’s stem cells. My family celebrated with a Chinese food feast. The Benadryl I received prior to the infusion, just to prevent any allergic reaction, quickly caused me to fall asleep. Luckily we took photos, so even though it’s all sort of hazy, I can see the hopeful look in my eyes.

For any of you that have spent time in the hospital, the days are a boring blur. While there’s nothing particularly exciting happening, you don’t get any sleep and the days blend together. I had been told, prior to being admitted, that when my post transplant neutrophils, a type of white blood cell, reached 500, I would be allowed to leave my room and walk through the halls. When they were at 500 for 3 days in a row, they would begin the discharge process. Just about 10 days after the transplant, I took that first walk. A week later, they were 500 consistently and I was discharged on Dec. 30.

I spent the next three months in Minneapolis, getting lab work and exams every other day. I, like all transplant patients, was taking upwards of 40 medications daily in the beginning. Anti-biotics, anti-virals, anti-fungals, anti-rejection, and anti-nausea drugs. But, I did not develop acute graph versus host disease, which is rejection. And my numbers never wavered. I remember one appointment, where my platelet count was 63,000. It felt like a dream. I just couldn’t fathom my body producing that many blood cells on its own, I never, ever thought that would’ve been possible.

A year later, my hemoglobin stayed consistent at 14. My platelets hovered around 150,000. My white counts remained completely normal, as well. I jump out of bed each day, ready to take it on, eager to make plans for tomorrow, next week, next year, the future.

I’m not free from health problems. I have struggled with chronic rejection –my donor’s immune system was so strong that it attacked the tissues in my GI tract. So, I’m still taking prednisone, but understand that it’s temporary. The rejection will not be with me forever. And when I run or work out at the gym, I imagine the cells in my body have become a cozy home for the donor cells, providing them with all they need to be comfortable, keeping them at peace in their new surroundings. And yes, I did just say when I run. For the first time in my life, I am able to perform cardiovascular work without feeling like my heart was going to pop out of my chest.

I was feeling so good, in fact, a little more than 2 years after undergoing the transplant, I became pregnant. Although labeled high risk – due to my extensive medical history – the pregnancy lacked any complications. In October 2008, Diana was born. If my own good health weren’t reward enough, her presence in my life has reminded me that dreams can come true.

The transplant did not take away my DC. It’s part of my genetic make-up and I will live with it forever. And I am aware that I will always be at a higher risk for cancer and regularly reminded by Dr. Alter that I need to be followed by an ear, nose and throat doctor, gastroneurologist, gynecologist, and hematologist, of course, for the rest of my life.

Which could be a very, very long time.

rkhuiras@yahoo.com
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Hello. My name is Becky and I have a 6-year-old son names Jesse. We were told in 2005 that he had DC. The signs started when he was about 1 ½ . We are from a really small town and no one here had answers to questions. We had a sick child and no doctor could find out what was wrong. We finally got a referral to a larger hospital and were finally going down the right track. It took about 1 year to get to that point. We didn’t know it was just the beginning -- another year went by and several possible diseases ruled out. Finally we were getting somewhere on this.

When we were told that he possibly had DC we were in shock. We had no clue what was next. We started him on Anadrol. It seems to work for him so far. We’ve seen a lot of doctors. He has had several platelet transfusions over the last 2 years. Jesse has the transfusions done locally and can come home in a matter of 2 to 3 hours. Most of the time he does pretty good. He really loves life. He is getting old enough to realize that he is a little different. He knows that he goes to the doctor more than other children. The hard part for him is that he is a very active child. Jesse just loves life and playing. When he sloes down we know that another hospital visit is in the near future.

We are trying to let him be a normal kid with limits. We put him in school this past year. We take him out on the times we know there is a lot of illness. Jesse’s ANC counts run low so there is always extra caution when it comes to illness. This past winter he only had one hospital stay that lasted longer than 6 hours. We have seen many different specialists lately doe to other complications. We are having trouble with watery eyes and ear infections. Those are the minor problems for the big picture. We are now having problems with his cholesterol and triglyceride – they are both way too high. Jesse is adjusting to a different diet. We try to make it for the whole family so he doesn’t feel bad about it.

We were contacted by the NIH and Dr. Blanche Alter in 2006. Jesse was flown out to Maryland to meet her and her team in September 2006. Dr. Alter has been a big help with answering our questions that no other doctor we’ve seen could answer. Now our main focus is keeping his CBC counts good and healthy. The medicine that he is on has put him into premature puberty. He has taken changes with his voice and body hair with ease. Jesse’s overall health is good – we take it one day at a time and count everyday as a blessing with him. I am willing to talk to other parents and patients. All the information we can share may help.

Becky and Jesse.
johnsdx@hotmail.com
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My name is Lily Jean Wahl and a couple years ago, I was the mother of 6 very healthy children and didn't even have a family doctor because we never needed to go to one. August 2006 Levi was born (an unexpected pregnancy) and our whole life turned upside down. When Levi was born, he had "white stuff" in his mouth, which we assumed was thrush and he had red eyes. He was in the NICU for a couple of days and then I brought him home, thinking things would get to normal. Levi would never want to nurse and of course the "thrush" never got better, no matter what we did to treat it. At 2 weeks old Levi was admitted to the hospital and we were in for 15 days. At that time, he had high calcium levels in his blood that they had to flush out. He had numerous tests done and of course blood tests every day. It was a very stressful time. When Levi came home, he had a NG tube and he has eaten that way ever since, though now he has a mickey button in place and the formula goes into his stomach that way. We have taken Levi to Seattle children's hospital twice to confer with specialists and just recently to Portland. He is registered with the NIH and Dr. Alter's research.

When we were in Seattle in February, the geneticist suspected that Levi may have DC and that is when we got in touch with NIH. Levi had the test done on the telomere length of his DNA and at this point that is normal. So, I was hopeful that this is not what Levi has. But after visiting another geneticist in Portland he truly believes that Levi has DC. We just recently did another test for the DKC1 (mutation) and are waiting for the results of that.

It seems so hard to imagine that our child could have such a rare disease and none of our other children are affected. Right now, Levi's main issues are his eyes, he has very red, irritated watery eyes and he absolutely cannot tolerate direct sunlight. He has oral leukoplakia , which apparently is also in his esophagus. He has persistently small size, weighing only over 12 lbs at 10 months of age and severe acid reflux issues. Despite all this, he is a very happy baby and smiles and is so social. He doesn't like mornings though and mostly sleeps until noon and seems to be very uncomfortable when I do wake him up earlier.

It has been an incredible journey for us, to have a baby and have these problems and then not even know what is wrong and not have a diagnosis. Even at this point, it has not totally been confirmed that Levi has DC. The NIH will be doing testing periodically to monitor him, so I guess time will tell. We go on and we have an incredible network of support but some moments are so hard and so painful. As a mother caring for a child like Levi day after day, I feel blessed but sometimes very lonely. I would love to be in contact with other families who have experienced similar situations.

Lily Jean Wahl
slwahl1@juno.com
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I am posting for my son, Coulter who battled DC for 6 1/2 years. Coulter began showing signs at 18 months. He was not 'officially' diagnosed until he was around 5. We are from North West Georgia and we visited many doctors, but finally found Dr. Alter in Baltimore. Coulter did not have the DC gene but did have shortened telomeres. He had all the classic skin abnormalities as well as platelet dependent and required red cell transfusions prior to his bone marrow transplant. Coulter was also taking Anadrol....I saw another patient posted that they had been prescribed Anadrol by Dr. Alter. This seemed to buy us some time. Coulter went to Cincinnati Children's Hospital for his bone marrow transplant the day after Christmas 2004. Cincinnati was the only hospital that would take him for a transplant. His brother was an exact match. He fought long and hard for over three months before he passed away. We are of course heartbroken. However, I just feel like there must be something we could do to continue fighting in his honor.  He was so very brave....as many of you must be.

Nikki
coultersfamily@comcast.net
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The following is a response to Nikki’s posting.

Nikki,

After reading your story, I have cried many tears for your family and Coulter and at the same time, I feel myself saying over and over" Please God, don't take Levi". I wish I could correspond with you some more about Coulter's life and his story.

Lily Jean Wahl
slwahl1@juno.com
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My name is Elizabeth, and I am Alexander’s momma, and Robert is his daddy. Alexander turned seven July 18, 2007, and has the Hoyeraal Hreidarsson (HH) variant of DC. He is also severely delayed from being oxygen deprived in utero (midwife failed to diagnosis placental failure).

Alexander was diagnosed with aplastic anemia when he was only 1-1/2 years old, and while our own research was consistent with DC-HH, it took several months for the doctors to be convinced. (I’d questioned abnormalities in his blood work twice in the prior year, but the concerns were discounted.) Alexander’s blood problems worsened rapidly, and he was admitted to Seattle’s Children’s Hospital for stem cell transplant by an unrelated donor. It failed twice, and the chemo nearly killed him. He finally underwent a bone marrow transplant by the same anonymous German donor, and it took! After nine horrible months in the hospital battling sepsis, respiratory and kidney failure and a failing liver, and being told there was “no hope”, we were able to take him home.

Alexander fought numerous infections in the next years. He was plagued by prolonged problems with graft-versus-host disease, and only got off the last of his
immunosuppressants a few months ago. He has severe osteoporosis and has suffered multiple fractures as a result of all the steroids. He is blind in one eye from complications related to an infection, and is nearly blind in the other from what we believe to be progression of the DC.

His tissue has been evaluated multiple times, yet the genetic defect has not been identified. Clinically he fits the description of DC-HH perfectly. He had finger- and toenails prior to transplant, but they came off from the chemo, and those that re-grew eventually came off again and have not come back. His skin is fragile, particularly in his genital area. Alexander has had oral leukoplakia since he was in his first year, and his gut is lined with an abnormal membrane, too. Part of his cerebellum is extremely underdeveloped, and his brainstem and corpus callosum are smaller than normal. He is the size of a skinny three year old, and gets growth hormone, his pituitary gland having partially failed apparently from pre-transplant radiation. He is g-tube fed because he has severe narrowing of a section of his esophagus and has poor coordination of his tongue, etc. He likes to taste foods, though.  (Chocolate is a favorite!)  His brain problems interfere with mobility, too, so he used to be able to walk a little with braces and his rolling walker. Lately, he seems to have pain when he tries to walk, and so just crawls occasionally.

Until the last year, Alexander had been an amazingly happy, sweet boy. He loves affection, playing with his trains, and has a great sense of humor. He is a great big brother to twin brother and sister, born 4/06. They are perfectly healthy. Since Alexander’s vision has been failing, his mood has been low a lot of the time. He perks up some when he goes to school and to music. He had been non-verbal, communicating with limited signs, but in only the last few weeks he has started to vocalize some sounds at will, and we finally got to hear him say “momma” and “dada” for the first time!

Alexander has his own website, which describes a lot of his journey. I’ve not been as good about updating in the last year, but I did journal through his transplants. Please sign the guestbook if you visit! www.alexandernevers.com. I'd enjoy hearing from other families touched by dyskeratosis congenita.  My email address is ecookmd@msn.com.

Elizabeth
ecookmd@msn.com
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I would like to know about androgens (Anadrol or other types) from DC patients/parents.  If anyone could share some information on how they did on androgens - I would love to hear how others have done.  We are trying to decide about trying androgens or going on to transplant.  My son has been dealing with DC since he was born, but did not get a diagnosis until he was four. He is nine now and his counts are really starting drop and I can see several new changes in his health.

Jen
bathpirates@hotmail.com
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Daniel is the youngest of our four children and is currently battling Pulmonary Fibrosis the hardening and scaring of lung tissue and will need of a lung transplant sometime in the near future. Along with the pulmonary fibrosis he also suffers from a rare condition called Dyskeratosis Congenita something he has been battling all his life.

Dyskeratosis Congenita (DC) is rare and affects roughly one in every one million people. It is an inherited multi-system disorder which affects just about every system in the body. In Daniel’s case he received a mutation in the DKC1 gene for reasons unknown and is the only family member affected by this horrible condition.

Daniel displays all the classic DC symptoms including abnormal fingernails and toenails, a lacey rash of the neck and upper chest and white patches on the inside of the mouth (oral leukoplakia).  People with DC have an extremely high risk of progressive bone marrow failure (aplastic anemia), myelodysplastic syndrome, leukemia, solid tumors, increased risk of malignancy, and pulmonary complications.
Daniel has already battle aplastic anemia and required a Bone Marrow Transplant (BMT) in March of 2000 with his oldest brother William as his donor. His BMT was very successful he engrafted quickly without complications. From March 2000 till January 2007 Daniel was able to live a normal life with very little restrictions.

In January of 2007 he developed pneumonia and never seemed to get over it and continued to have a nagging cough which did not produce anything. Numerous medicines and antibiotics were tried with little improvement. He was referred to a Pulmonary Specialist who ordered CT scan and Pulmonary Function Test (PFT). After testing we received the devastating news on 9/11/07 that his condition was worse than anyone previously realized and that he had pulmonary fibrosis. This diagnosis was later confirmed through a lung biopsy in October 2007 and with following PFT’s.
He was put on a course of medicines which helped him for almost a year but his condition has worsened. He now has difficulty breathing now and requires supplemental oxygen and has to be pushed in a wheel chair to travel long distances. He has been place on an aggressive course of high dose medicines while awaiting evaluation for lung transplant.

September 2008 the family traveled to the NIH to participate in the study of DC. We met the wonderful team of doctors and nurses there and came away much more informed about this rare disorder. I also attended the first DC confrence and learned so much more and met other families suffering DC and got to listen to their stories and so much of it sounds very familiar.

October 2008 he was evaluated at the University of North Carolina UNC for a lung transplant but UNC felt it was in Daniel’s best interest to go to a hospital that had experience in transplanting patients who have had a prior BMT and have referred us to St. Louis Children’s Hospital (SLCH).

Daniel was accepted for evaluation at SLCH and traveled there the week of 10-14 November. With his evaluation complete we await SLCH decision and hope and pray he will be accepted as a patient in their program and that he will be listed soon. We understand that a lung transplant is not a cure but is a treatment and chance for a better future.

If you would like to follow his progress go to http://www.caringbridge.org/visit/danielyara
Michael
yoyoyara@ymail.com
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Alexander was diagnosed with DC in November of 2005 at 3 years of age. Alexander is almost 4 years old now and holding his own. Alexander is currently taking Oxymetholone and although we are still trying this treatment there is still no clear evidence that it is working. Alexander has very low platelets and his red and white cells still fluctuate between somewhat normal and low. The biggest obstacle with DC is that the treatment options are so very limited and the drugs they do use only work on about 30 percent of patients. We dread the day that we are reliant on blood transfusions and that last resort option of a bone marrow transplant.

Having a child with DC can feel like a huge slap in the face: how could our child have a disease that affects about 1 in every 1 million births? We are still searching for the gene that has affected Alexander, to no avail. We are still hopeful to one day have another child that is DC free and will be a match for Alexander's bone marrow. We are very grateful that we live in a day and age that genetic testing can be done on just about any disease and hope that all the genes for DC are one day discovered.

  Alexander is a sweet child full of energy and life, and if anyone enjoys life to the fullest it is Alex. Alexander is referred to as the "mayor", shaking everyone’s hand and talking to anyone who will listen. Alexander has a very strong stubborn side and I sometimes think that his willfulness is what is going to get him through. Someday when Alex is old enough to understand we will explain everything. Right now he is treated as a normal child who sees the doctor more often. We live each day for the positives and for the most part Alex's smiles and laughter far outweigh the obstacles to come.

Elizabeth
elizabethbng@aol.com
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Jenny Christiansen
My 3-year-old son Teddy was recently diagnosed with DC/HH and is currently at home, although he is waiting for BMT at University of Minnesota this fall/winter.  While we wait, Teddy’s receives regular blood transfusions to offset the effects of bone marrow failure. Additionally, he must receive blood when he undergoes esophageal stretching necessary to counter a congenital esophageal stricture. Sadly, his identical twin brother passed away at 3 months old from complications due to whooping cough.

Although Teddy had undergone genetic testing for DC, none of the four genes screened were found to carry the mutation.

For all of the physical and developmental hurdles facing Teddy, he thrives in the love of his family and the ruckus associated with having three siblings.

We would be willing to and wish to talk with others who may have walked or are walking the same road.  Thank you!

UPDATE:
My son Teddy underwent an unrelated donor, BMT  (bone marrow transplant) on Nov 6, 2009, at the University of Minnesota, Fairview, under the care of Dr. Jakub Tolar.  It was successful and he is on day +104 today (2/19/10).  He is happy, energetic and 100% donor DNA bone marrow which is working well and getting better everyday.  He has a caringbridge site which I don't mind sharing as well.  www.caringbridge.org/visit/teddychristiansen

jennyc123@comcast.net
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Disclaimer: Medicine is a constantly changing science and not all treatments are clearly established especially with such a rare disease. New research changes drug and treatment therapies daily. The authors, editors, and publisher of this website have used their best efforts to provide information that is up-to-date and accurate and is generally accepted within medical standards at the time of publication. However, as medical science is constantly changing and human error is always possible, the authors, editors, and publisher or any other party involved with the publication of this article do not warrant the information in this article is accurate or complete, nor are they responsible for omissions or errors in the article or for the results of using this information. They are also not responsible for any of the statements made by individuals posting their own stories or experiences on this site.