I found this website a year or so ago and set it aside in my mind. I am the mother of three DC children..hows that for the odds huh. I just came home from the Dr with my youngest Richard with the frightening prospect of a Bone Marrow Transplant in the near future. But I guess I should start from the beginning
Charles was born October 25th 1978, was diagnosed when he was 18 and passed away at 19 years old from complications due to DC
Taryn was born October 27th 1979, was diagnosed at the age of 17 (after her brother was diagnosed) Richard was born June 8, 1984 and has a twin sister Deborah (who does not have DC), he was diagnosed at the same time as Taryn and Charlie
If we were ever told what type the kids have I don't recollect.We first encountered symptoms when our daughter Taryn was and infant, she seemed to have swallowing problems from birth, we were given many diagnosis's from underdeveloped to attention seeking behavior. By then our lives were turned upside down with a child that choked most every meal so finally we were referred to a specilist who discovered an esophageal web. They tried dilitation which worked for a few years but when they attempted to do a second one they found that the opening in her throat was only the size of the end of a ballpoint pen. At that point they removed a section of the esophagus. Taryn also exhibited teeth and nail malformation. Shortly after Taryns throat surgery Charles started complaining of the feeling like something was stuck in his throat we made an appointment with the same surgeon and they skipped the dilitaion because of the small opening and did the same surgery that Taryn had..Charlie also had nail malformation.
Things went well for several more years and then Charlie (then 17)was in a minor car skirmish and broke his femur and had to have a rod set to repair it.. while they were doing his pre-op blood work they discovered that his platelets were only 15,000, this set in motion numerous tests for luekemia and other blood problems, everything came back negative so we breathed a sigh of relief and got on with life. A year later Charles developed a sore on his tongue that just wouldn't heal. I finally had one of those mother moments and just knew something was wrong so I bullied his Dr for an appointment on Christmas Eve and they were sure it was nothing but decided just to be safe we would get a biopsy done. The initial appointment was late in January but again I bullied them for a sooner appointment and he got in on New Years Eve. The day after New Years we got the call that it was cancer. In Jan they removed the lesion and the surgeon said he was 99% sure they got it all..within a couple months they was swelling and soreness in his neck and I was basically told that we were just gun shy but to appease us they would biopsy the bump...within a few days we recieved the news again MALIGNANT, we then went to the University of Michigan and had the surgery done to remove his lymph nodes only one was cancerous and they removed some white patches on his tongue also and determened that they were benign, after the surgery Charles had 6 weeks of Radiation and at the end of that it was discovered that the cancer had spread to his lungs. Charles put up a great fight but finally lost the battle 3 months later. During this time with all the symptoms and the cancer diagnosis there was finally a name put to what my children were going thru... Dyskeratisis Congenita. In my wallet to this day I still carry the prescription slip that the Dr wrote it down on for me.
Taryn is doing well, she still has the nail problems and some blood issues pop up from time to time and she has some bladder issues , she just had a physical this week and her Dr declared that her blood work was awesome. She sees a ENT Specialist a couple times a year and has recently had a colonoscopy and upper scope done, the only problems there was that her plumbing (for want of a better description)is so tiny they had to put her in the hospital, totally sedate her and use a pediatric scope but so far all is well. She has given me 5 wonderful grandsons and we pray that her illness will never effect them.
Now Ricky.. he was diagnosed also when Charlie and Taryn were, he had a minor web so a couple of dilitations have worked there. But his blood issues are quite severe, he is 25 now and since he was 15 they have tried a multitude of meds and treatments to boost his platelets. The last few years he has been on Anadrol and it has, up until now, helped but caused many unpleasant side effects. He started out at about 140 pounds and his weight shot up to 270, he has been hospitalized with severe muscle spasms and he is constantly pulling muscles, his hands got so large he had carpal tunnel surgeries on both of them. He has to get yearly Bone Marrow Biopsies and regular Ultra Sounds of his Liver and of course he has monthly Hem/Onc visits. The meds also cause some mood issues so he suffers from depression and night terrors. Now it appears that the meds may no longer be working or at least not working as well so the next few weeks he will be off and transfusions will be his treatment. We were told today that before he can be considered for a transplant that his system has to be clean of the Anadrol. He had a blood draw today and his hemoglobin was 9.2 and platelets 16,000, he has another blood draw in two weeks and then a Bone Marrow Biopsy on May 4th at that point the Dr will be making his recommendation.
I know my children are grown now (except in my heart) but I am still frightened for them and don't know how I would survive losing another to this disease..I would dearly love to hear from others who are going thru this or have already gone thru it.
UPDATE: Update for Ricky Oct 26,2010 , after a bad bout with H1N1 last fall the steroids that Ricky had been on were not as effective as they had once been and his counts were slowly drifting down so this summer the Dr suggested that we may want to consider a BMT..things moved very quickly from then..3 Donors were immediatly identified and the pre transplant testing began, we had a minor disappointment when the first chosen donor had to be eliminated due to an antibody/antigen problem but with just a couple weeks delay a second donor was chosen. Ricky was admitted to the hospital Oct 14th to begin his Chemo, another pesky antibody presented itself a few days ago and they were going to send him to PICU to have his blood washed but after checking the donors donation they reconsidered with the thinking that Rickys body could handle eliminating the waste from the red blood cell destruction. So today Rickys new marrow is winging its way here from Europe and transplantation is planned for this evening.
tammytummy2001@yahoo.com
