Clark has a long term medical condition known as DKC. This genetic condition produces many diseases as it progresses. This space is dedicated to communicating what we have learned about Clark’s condition, and what questions we still have.
Summary to date
As of May 2015, we are nearing the end of the treatment for Clark’s Aplastic Anemia. At this time, he is progressing very well. He is well past the risk of getting acute GvHD, and so far no signs of chronic GvHD. We are half-way through his vaccinations, and we hope to be done this by the summer of 2015. He still lives with DKC and Hemophilia, as there is no cure for either disease.
History
August 15, 2014
Clark has Aplastic Anemia. We are in middle of a bone marrow transplant (BMT) to address this condition. We have a confirmed match that is an 11 out of 12 (quality of match). Conditioning (chemo) has already begun, and his transplant is on schedule for August 20th. We have also had confirmation that Clark has a genetic condition known as Dyskeratosis congenita (DKC). The type of DKC Clark has (TINF2), has a high correlation of Aplastic anemia occurring at a young age.
August 11, 2014
Clark has begun his Bone marrow transplant at UCSF.
June 23, 2014
UCSF has confirmed they have found a very good bone donor match for Clark (11 out of 12 HLAs that match). They also possibly have a near perfect match (12 out of 12 HLAs that match), and we are only awaiting the test results from this additional donor to decide on a date to begin the BMT.
June 20, 2014
Our appointment with the Genetic councilors confirmed that the TINF2 marker indicates Clark has a form of DKC. There is very little known about exactly what this version of DKC will result in, but there is a correlation between people that have this, and of having Aplastic Anemia at a young age. So this confirms that Clark’s Aplastic anemia was most likely caused by DKC.
June 4, 2014
The doctor has notified us that Clark has a genetic marker identified as TINF2. This confirms that Clark has a form of DKC, but this still doesn’t tell us the severity or type of DKC Clark has. We have an appointment with a genetic counselor to learn more about what this means.
May 20, 2014
Immunosuppressive therapy has been cancelled. One of the genetic tests have come back showing that Clark’s DNA has very short telomeres. This condition is common with a rare progressive congenital disorder known as Dyskeratosis congenita (aka DKC, or sometimes called DC). Patients with DKC do not respond well to immunosuppressive therapy. As such, we will need to do a bone marrow transplant. It will take up to 2 months to find a donor, but doctors are highly confident of finding an excellent match.
May 8, 2014
Connor is not a bone marrow match for Clark, so we move towards immunosuppressive therapy. This process destroys the immune system, to allow the bone marrow to heal, and hopefully re-balance the body.
April 28, 2014
Second bone marrow biopsy has shown that Clark has less than 5% cellularity in his bone marrow. This is confirmation that he has Aplastic Anemia. We still don’t know why he has this condition. Could be idiopathic, or it could be caused by a genetic condition. We’ve started taking DNA samples to test for genetic conditions. Connor will be tested to see if he is a match for a bone marrow transplant.
April 24, 2014
We are admitting ourselves to the hospital to get a Broviac installed in Clark, and having a second bone marrow biopsy.
April 21, 2014
We have completed a nightmare 20 hours in emergency. Clark’s blood counts continue to worsen. There is definitely a downward trajectory. The doctors would like to do another bone marrow biopsy. They believe that it might be worse now, as often these conditions take time to “declare themselves”.
April 15, 2014
Bone marrow biopsy has come back with high enough cellularity that the doctors have ruled out Aplastic Anemia. As well, the 2 tests for Leukemia have come back negative. We continue to be puzzled as to why his blood counts are low. It could possibly be a virus, but it is unlikely (as he is showing no other symptoms).
April 10, 2014
Clark has had a Complete Blood Count (CBC), and it has come back with low white blood, red blood, and platelet counts. This is commonly associated with Leukemia and Aplastic Anemia. The doctors would like to get a bone marrow biopsy to check the cellularity of Clark’s bone marrow. They would also like to test the bone marrow for Leukemia.