Finding Answers – Isabelle Moss talks about living with an immune deficiency and what CHEO means to her family.
For most of her life, Isabelle Moss has been asking why. Why don’t I feel well? Why am I tired? Why am I always sick? Do I have cancer? When can I go back to school? What happens next? Why can’t I get better?
“I didn’t look sick, but I really was,” she recalls. “It was hard because I missed a lot of school and my friends didn’t understand.”
Isabelle’s mom, Nicole, agrees. “From the time she was born, Isabelle had symptoms and every time we went to the doctor they sent us to see a specialist at CHEO. But the symptoms wouldn’t always be there anymore, so the specialists couldn’t help us, and we came home with no answers. As time went by, more and more symptoms appeared.”
In fact, the questions remained unanswered for several years. Isabelle was often feverish and sick to her stomach. She always seemed to have some type of infection. At one point, doctors thought she had cancer and a lymph node was removed. But it wasn’t cancer.
Finally, in 2011, after many, many tests, surgeries and visits to CHEO, the answer became clear. Isabelle’s immune system was not functioning properly, and she was diagnosed with Combined Immune Deficiency. “It seemed that every part of Isabelle from her intestines to her liver was affected by her immune system,” notes Nicole. “There was always something different to talk about.”
“When there is a problem with your immune system, it can be quite complex and not easy to diagnose. It can affect many other body systems and we need to link all of the symptoms together,” explains Dr. Anne Pham-Huy, Isabelle’s doctor and an Infectious Diseases specialist at CHEO. She also leads the Primary Immunodeficiency Clinic. “Isabelle is a fighter. She’s a beautiful, smart, brave girl who has been through a lot.”
Unfortunately, a diagnosis did not mean an end to Isabelle’s challenges. There were more tests and more interventions such as pulmonary tests and lung biopsies. In 2014 at the age of 14, Isabelle underwent a bone marrow transplant at CHU Sainte-Justine in Montreal. Her course was quite complicated, and she nearly died a few months later after sustaining a serious lung infection and having her spleen removed. But she slowly recovered.
Isabelle went back to school last year – two years after her bone marrow transplant. She now visits CHEO every few weeks to receive regular intravenous immunoglobulin. The treatment is helping to strengthen her immune system and keep her healthy.
Nicole says it has been a long journey. “All your hopes are in the hands of the doctors. Dr. Pham-Huy is the best. From the first time we met, she has been so good to us. She, and her many colleagues, were always thinking about what do to next.”
Isabelle, who turns 18 in a few months, knows that her journey isn’t over. “It’s been a part of my life and I guess I have to accept it. But I do wonder what the future holds, and I wish I had all the answers.”
The good news is that the field of clinical immunology is growing rapidly thanks to better recognition of these multisystem diseases and newer diagnostic tests. The rate of discovery of new primary immunodeficiencies has increased exponentially in the last decade. “When I started working at CHEO in 2009, we were describing about 150 conditions and today there are more than 300,” explains Dr. Pham-Huy. “Genetic testing has really helped put a name to diseases that we knew certain kids had.”
She adds: “By knowing the specific problem within the immune system, we can sometimes offer patients ‘precision medicine’ – a therapy that targets the specific problem. But sometimes it still remains nameless and we treat by providing the patient with a brand new immune system such as giving a bone marrow transplant. There is still so much work and research to do in this field – and more awareness is needed to ensure these patients don’t feel alone and isolated.”
Both Isabelle and her mom are thankful and want to give back to CHEO. They know that donations to the CHEO Foundation make a difference – from buying medical equipment to supporting research to help kids like Isabelle and many others.
Isabelle sums it up best, “CHEO is an excellent hospital and they are the experts. Research is so important to help find answers. Every person is living some type of challenge and it doesn’t always show. We all just need to be a little more compassionate.”