Fair for Rare: Elliott’s Story
Elliot was a typical happy and healthy 3 year old until early December 2016 when we noticed some bruising on his legs which progressively got worse over a few days. After a trip to the GP, and requested blood tests. We had only been home for 45 mins when the doctor called and told us to pack a bag and head to Melbourne where the children’s hospital were expecting us. Elliot's platelet level was 10, that night he received his first platelet transfusion and following morning he had a bone marrow biopsy. From that day onwards Elliot had weekly platelet transfusions and fortnightly blood transfusions.
On the 20th of December 2016 Elliot was diagnosed with Aplastic Anaemia, he had a central line inserted on the following day. We headed home and anxiously waited for the tissue typing results to see if either of us (parents) or his brother were a potential match for a bone marrow transplant. Sadly none of us were. Elliot has had unusual skin and nail changes since he was a toddler, his doctor investigated further and had a blood sample sent interstate for testing. The hospital started looking on the bone marrow registry for a potential donor. Elliot had fertility preservation surgery the same day we found out he had Dyskeratosis Congenita. We were devastated but determined to stay strong for him.
The lack of knowledge about his diagnosis is upsetting for us as parents but so many doctors have had to do a quick google search to find out what Dyskeratosis is before assessing Elliot.
The weekly visits to hospital mean we are away from family and friends, sometimes it's just one or two nights but at any moment things change and we are gone for a week. Elliot's Dad has to work and Ashton his little brother has to go to school. When you are away from home with a sick child and no family with you, at the end of the night you just fall apart from exhaustion and the overwhelming fear of the unknown. To go to all of these appointments on your own is tiring and the amount of information you have to take in is daunting. You need a family member or friend there for support which means time off work for whoever comes with you. There is also a lack of support from larger services, we've been knocked back because the diagnosis is a rare disease. To be told you aren't eligible for family counselling because of is upsetting. Access to coordinated care is vital to better meet the needs of people living with a rare disease. His life still matters, no matter what his diagnosis is. We've been blessed to have so many people in our small community and family/friends who have shown so much love and support. It really is heart-warming.
It's hard talking to people about it when they don't fully understand your situation. No fault of their own, it's just the simple fact that it's a rare condition and minimal knowledge about it. To be able to talk to someone who understands the complexities of this diagnosis and the prognosis would make such a big difference. We would love to see more fundraising being done for Dyskeratosis Congenita, and more research into the condition, it is distressing knowing there isn't a cure or any other treatment options for his rare disease. Research into the affects chemotherapy has in accelerating the organ issues associated with Dyskeratosis Congenita. The more we know the better we are able to give him the support he needs for a great quality of life.