Today, 28 February 2019, is Rare Disease Day.
There are over 6,000 rare diseases and 300 million people worldwide are living with a rare disease. Medical knowledge and expertise on rare diseases is scarce and people often wait years for a diagnosis, while struggling to access medicines or the care they need. This year’s theme is Bridging health and social care.
Rare Disease Day takes place on the last day of February each year. The main objective of this day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
The campaign seeks to raise awareness amongst the general public, policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
In 2011 ICPCN published Touching Rainbows, a book giving a voice to families and children with rare, serious and life-threatening illnesses and advocating for palliative care provision for these children. In the book Kate’s parents, Fiona and Mark Engwirda, share the story of their daughter Kate, born with a very rare and yet to be identified syndrome. The story highlights the need for palliative care services for many children with rare diseases.
Hello, my name is Kate – my brothers call me “baby-cake” …
I was born with a congenital heart condition called Tetralogy of Fallow – which affects 4 areas of the heart anatomy and Microcephaly (which means small head and brain). I also have epilepsy and I find it hard to feed without a nasal-gastric tube. I am the much wanted baby girl in a family of boys. My mum particularly LOVES dressing me up in cute outfits complete with shoes and bows in my hair. I really enjoy this and love going out to show off my new clothes.
The doctors can’t find a reason why I have so many medical problems – it is thought that I have a syndrome so rare it cannot yet be identified by genetics. I spent most of the first year of my life, in hospital. I have had lots of operations including Open Heart Surgery. This was very hard for me, but I pulled through and with the support of many doctors and services across two major hospitals in Brisbane I was able to eventually go home to my family, which made me very, very happy.
Shortly after my heart surgery in January 2010, we learned that the surgeon’s couldn’t fix my heart. The doctors told my parents that I wouldn’t live a long life – they said “It could be 5 months or 5 years” they were uncertain how long my heart would keep working – my big brothers James and Harrison understood that I would not grow up to be big like them… and they showed me their love every day.
The next 15 months I was lucky to spend at home. My family enjoyed every day and I was spoiled with lots of cuddles, new clothes and sometimes taken on family outings. My mummy and daddy looked after me 24 hours, 7 days a week. They took me to lots of doctors appointments and became very good at meeting all my medical needs. Unfortunately, they often got tired and worn out from looking after me so well. Mummy worked hard and devoted much time to sourcing funding for my medical equipment and funding for respite –she did this out of necessity and because of devotion to me. She often negotiated a difficult system with limited support. In Queensland, respite funding is limited and has to be utilised in the home. It was hard for my family to ever get a break, but they carried on out of pure love and commitment to me.
In March of 2010 our family travelled interstate to New South Wales to visit a purpose built facility that could provide appropriate care for me, while my family enjoyed some much needed respite – a home away from home, where my parents could have a break from the rigors of caring. This was a facility like no other – we enjoyed family outings by day and mummy and daddy had wonderful uninterrupted sleep by night.
In May 2011 my family and I returned to this wonderful hospice for another much needed respite break … as no such facility existed in Queensland. Little did my family know that on this holiday we would all experience firsthand, the grace with which end of life care can be provided.
On the morning of Saturday 21st May 2011, suddenly my heart stopped working. I had a cardiac arrest. My family were shocked but they showed me much love and strength for me as I passed. I know that they were surrounded by the beautiful staff and surroundings of a place that specialises in doing this very special job for me – taking care of those who took care of me. I closed my eyes for the last time… with the knowledge that my family were in the best of care.
My wish… is for all Queensland Kids and families like mine, to have what my family had – the care and support of a specialised paediatric palliative care facility – when we all need it most.
Had Kate’s death occurred in our hometown of Brisbane, how different this experience would have been! Currently, in Queensland, there is no hospice facility which specialises in Paediatric – ‘end of life’ care. As parents we can’t not stress enough how much of a difference this made for us as a family, when faced with the difficulty of losing our beautiful daughter Kate.
Funding is needed for the establishment of Hummingbird House, so that Queensland families like ours are supported throughout their journey with paediatric life limiting illness.
Since Kate’s story was told in Touching Rainbows, Hummingbird House, Queensland’s only children’s hospice and one of only three children’s hospices in Australia, opened its doors for the first time in October of 2016.
The website states: “To acknowledge that none of this would have been possible without the incredibly insightful input from families who have needed and will need Hummingbird House, families were invited to officially open the building by hanging one of 37 hummingbirds at the front door, representing the 3,700 Queensland children living with life-limiting conditions.” The Engwirdas were one of those families. You can read their story here.
This article originally appeared on the International Children’s edition of ehospice.