Wednesday, September 18: Note sent to friends and family

The picture shown here was taken in Hope, when we were driving to Vancouver for Nadia’s appointments.

Below is the contents of an email we sent to friends and family on Sept 18. Receiving Nadia’s diagnosis was very upsetting. From the reading I had done to that point, I was expecting to hear that Nadia had amegakaryocytic thrombocytopenia – something that is cured with bone marrow transplant. And with all the wonderful advances in bone marrow transplants, there would be a good chance of a good outcome. Learning Nadia has a rare genetic disorder that can complicate the bone marrow transplant process, especially with a non-perfect match, was devastating. We also learned that the transplant will only fix her bone marrow failure – she will still have the disease and will have to be monitored closely the rest of her life to treat the premature aging symptoms and to catch possible cancers at early stages. It was at this time we learned that it was a real possibility Nadia might not survive the bone marrow transplant, or if she does she could end up with chronic health issues from the transplant, or she could be fine. Add to this the shortened lifespans of patients with dyskeratosis congenita, and the impact premature aging will have on her quality of life was hard to hear. But we will soldier on.

Nadia update from Sept 18: We were back at Children’s Monday and Tuesday. Here’s an update.

Nadia has been diagnosed with Dyskeratosis Congenita, something that often does not show up in those affected until later in life. She does not have all the symptoms, but she is still quite young yet, so other symptoms could show up down the road. Bone marrow failure syndrome is common with this disease eventually.

They confirmed her diagnosis in 2 ways. Her telomere length is extremely short, less than the bottom 1 % for her age. Also, they looked at her DNA and confirmed that there are changes consistent with dyskeratosis congenita. Telomeres are kind of ‘buffers’ on DNA that are important for cell division. Telomeres shorten as we age and are believed to cause characteristics of aging (like graying hair, thinning hair, old age sun spots, etc). Researchers around the world are trying to develop telomere lengthening methods as a way of anti-aging, which hopefully will benefit Nadia down the road. More on telomeres: http://en.wikipedia.org/wiki/Telomere

Nadia still needs a bone marrow transplant to treat her bone marrow failure, but this will not cure her disease. Also, dyskeratosis congenita patients have a more difficult time with the transplant than other patients. This is scary, but hopefully a misreading on my part. Our bone marrow transplant doctor was unable to meet with us on Monday. Great advances are being made continually for bone marrow transplants and outcomes are always improving. I know of a at least one clinical trial aimed at improving the outcome of bone marrow transplants for dyskeratosis congenita patients and the fact that the trial has been continuing since 2009 is encouraging.

They took blood from Tara and I and will be running tests to see either of us carry this genetic problem. It is possible that one of us has this disease but have not shown symptoms yet <well, maybe premature graying 😉 > If either of us show up positive this will affect our family planning and will necessitate sibling testing as appropriate.

They have not finished HLA-typing for her bone marrow matching process yet, and should this week or next. Once they finish HLA-typing they will begin looking for a match. … we wait …

We have many more appointments yet to be scheduled at Children’s. We don’t have any timelines at this stage. The blood doctors are still holding off giving Nadia a platelet transfusion (because it could interfere with the bone marrow transplant) for the time being, so she is a walking bruise. Nadia is behaving like a typical (almost) 2 year old. Full of energy, running around, and being argumentative. We take this as a good sign.