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
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
