A few weeks ago I was asked to prepare a presentation for the Board of Trustees for the Children’s Hospital of Eastern Ontario. I was honoured to present this following speech this evening at their annual retreat:
Hello, and thank you for inviting me to come and speak with you today. My name is Julie Drury and my 5 year old daughter Kate has been a patient at CHEO since she was 9 months old. I feel honoured to share my daughter Kate’s story and our family’s journey with CHEO with you today, and it is a true testament to CHEO’s commitment to patient and family centred care that you have invited three parents here today to speak to you.
What I want to share with you today is how CHEO’s forward thinking and expertise in pediatric care have had such a positive impact for our family. And by telling a small part of our story, I hope to inspire you to continue on this path.
My 5 year old daughter Kate is a medically fragile child who suffers from an extremely rare disease that has caused multiple medical conditions. Among her conditions, Kate is profoundly deaf, suffers from a blood disorder, has an immune deficiency, has gastrointestinal, kidney and liver complications, and suffers from episodes of acute illness that frequently require visits to the emergency department and many hospital admissions. In the past 3 months alone, Kate has been hospitalized 3 times. She sees more than 12 different specialists at CHEO, she has 7 different therapists at CHEO and in the community.
You can probably glean from this description that managing Kate’s health – keeping her safe, keeping her health stable and trying to ensure she has the best quality of life she can, is almost a full time job. For the first 2 and ½ years of her life we visited the ER countless time, Kate was admitted several times for acute episodes of illness and she had no diagnosis until she was 4. Every time we came to CHEO we would meet new doctors – residents, attending, nurses in the ER. We would tell Kate’s story as best we could. We’d describe her symptoms and her history as best we could. We were often admitted, and would need to repeat this story again to the staff on the in-patient units. Tests and invasive procedures were done repeatedly as there was no concise history and no treatment protocol for her condition. Many times we were put in the position of being asked how Kate had been treated before and how her pain was managed. We felt like we were her medical coordinators, medical advocates and were relied upon to help summarize her very complex condition. When she was not in hospital, we found ourselves as the go-betweens among her specialists, trying to coordinate medical tests and procedures, and asking for case meetings so that we could at least have all the specialists in the room to discuss Kate’s condition.
We were exhausted, scared, frustrated and we did not feel safe at CHEO. Kate suffered 2 acute life threatening events here. Both of which may have been averted with proper oversight if her care had been better coordinated and her complex medical needs better had been better understood and supported. However at that time, CHEO had no mechanism to provide the support and care that Kate needed. At one point we had been advised to consider a move to Toronto where Sick Kids had a program that could better support a medically complex child such as Kate.
What I know now is that our situation is not unique. So many families have struggled like ours has. Children like Kate are living longer as a result of the incredible gains in medical knowledge and technology. Medically fragile, medically complex, technology dependant kids have become a significant population. There are at least a couple of hundred Ottawa and the surrounding area that CHEO serves.
In 2010 CHEO introduced a pilot program to support medically fragile and medically complex children and youth to better coordinate and support their care within CHEO and in transition to community support. It is an incredible program, staffed by a dedicated doctor and a nurse care coordinator. For our family, it has changed our life. Kate was the first child admitted to the program and has been with it for 2.5 years now. Kate’s specialists rely on the program to coordinate, share and stay informed about her condition. Her tests and procedures are coordinated and now less invasive for her. Her episodes are better managed as we now have a coordinated plan for treating Kate, allowing her to be more efficiently care for in the ER and when she is admitted to hospital. In the last 2 years she has spent less time at CHEO and there has been less stress on our family. She is safer at CHEO, and her quality of life in the last 2 years has been better.
The Coordination of Complex Care Program is a CHEO win. And more importantly it shows how CHEO can be forward thinking and responsive to the changing needs of CHEO’s most vulnerable patients.
Last November we celebrated an incredible milestone with Kate’s team here at CHEO. Kate’s disease was diagnosed. Her medically complex conditions were always highly suspected to have an underlying unifying diagnosis. She had has been to Sick Kids for second opinions, the Mayo Clinic, and was admitted to the Rare and Undiagnosed Disease Program of the National Institute of Health last year. There have been more than 20 different diseases considered in Kate’s case. I think what is truly remarkable is that it was Dr.Pranesh Chakraborty of the CHEO Metabolics and Genetics Department – who collaborated with researchers from around the world to identify a new and rare form of a recessive genetic mitochondrial disease. Kate was the first known case of this newly identified disease. Researchers here at CHEO made the discovery.
Kate’s disease does not yet have a name, and the first journal article with several of the authors from CHEO will be published shortly. Since the disease discovery and in collaboration with colleagues around the world, there are now 10 known cases over the last 20 years. Four of those children are alive today.
Our diagnostic odyssey now over, we are focussed on working with Kate’s doctors here at CHEO to find a treatment and maybe a cure for her disease. There is already a little petri dish of yeast with the genetic defect being grown at the Research Institute to try and better understand this disease.
Being so rare is daunting. We are the first, and sometimes being first is not a good place to be. But being among the first blazes the trail for others, it leads to new discovery, new ways of thinking about things, new ways of helping patients and families.
And while we wait and hope. We know that Kate has a strong and dedicated medical team behind her. We feel safer, and we know that CHEO has the vision and the forward thinking to help children like Kate and families like ours. We know that CHEO also strives to be first and to blaze a trail.