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.
July 2010 update:
As for Daniel it has been one year and five months since his double lung transplant for pulmonary fibrosis. His recovery to date can only be described as a miracle. He has done exceptionally well, no longer bound to a wheelchair or oxygen equipment. For the most part he has resumed "HIS" normal activities which includes video games, computer games and art. He was never into organized sports and he has always limited his exposure to the sun because of the DC before/after the transplant. He is not out running marathons or playing organized sports but, it is so very nice to see him able to run when he wants to and be a normal teenager. He is looking forward to attending high school this year as he missed most of middle school because of the transplant and concern for his immune system. I am sorry that the board members have not been getting regular updates, I assumed everyone was following his progress through his website but it has come to my attention that his DC website list his old caring bridge site which no longer exist. For those that wish to read his story and follow his progress please see http://cotafordaniely.com/
Michael
yoyoyara@ymail.com
