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 the 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. I’d enjoy hearing from other families touched by dyskeratosis congenita.