Your Stories

Cathy Evanochko

Hope by Cathy Evanochko As I stood at the back of the assembly hall and listened to my youngest daughter strum the opening chords of “Just Watch Me Go,” a song she wrote and performed, the memories of our journey over the past 26 years filled me with both sadness and joy. The lyrics of Kimberly’s song speak to both the challenges in her life and the wonderful successes; to the relentlessness of her disease and the hope that each tomorrow brings. My beautiful girl sang, “When I was a young girl/Growing was not so easy/Learning is so complex/With so many dreams/My ambitions had no limits/I didn’t want anyone to hold me back.” Kimberly was diagnosed with Tuberous Sclerosis Complex (TSC) in 1986 at the age of 13 months. She has the white marks, facial angiofibroma, seizures and developmental delays characteristic of this disease. Seizure control has been a major focus of her medical care and we saw relative success in the years since Kimberly turned 18. At the same time the seizures began to decrease in severity, acute behavioural issues surfaced. Kimberly began to experience high anxiety and show extreme reactions in everyday situations that would be described as mildly stressful. Kimberly’s compromised ability to remain calm when interacting with people and the critical reduction in her mechanisms for coping with uncertainty have impacted her employment and her relationships with friends and family. One of our concerns as Kimberly became a young woman was the absence of congregated medical services and other supports for adults with TSC. To keep up with the latest news and to connect with other parents who battle for their children every day, I attended a conference in Toronto hosted by TSC Canada. Two very important things happened at that April 2007 conference: physicians shared news of possible new drug treatments for TSC and I heard more about Lynphangioleomyometisis (LAM), the lung involvement for women with TSC. Along with the very good news about clinical drug trials and possible new drug treatments, the audience heard a strong recommendation that women over 18 years of age and diagnosed with TSC should have a CT or MRI on their kidneys and lungs regularly. A neurologist explained that young women with TSC have a 40% to 50% chance of developing LAM. After requesting the tests upon my return from the conference, Kimberly was diagnosed with LAM in July 2007. LAM is a lung disease that results in changes to the muscle tissue in the lungs, the tissue changes from smooth to disorderly. These changes cause obstructions of small airways and lead to pulmonary cyst formation and pneumothorax (partial lung collapse). The scans that diagnosed LAM also revealed Kimberly had numerous angiolyomytomas (AMLs) between 6 and 9 centimeters in diameter in both of her kidneys and on her pancreas. While the diagnosis of LAM was heartbreaking, the discovery of the large AMLs in Kimberly’s kidneys required immediate intervention. Over the next two years Kimberly had procedures on both kidneys in an effort to reduce the size of the tumors or at least slow the growth. The procedures met with limited success and surgeries were followed by serious complications—two pneumothorax and blood clots in her groin and leg. A solution other than surgery was now urgent. Remembering the news at the Toronto conference about drug trials, my husband and I began investigating what was happening in Canada and the United States. We applied to a clinical drug trial monitoring affects on the kidneys. The trial was taking place in Cincinnati, Ohio and was sponsored by the pharmaceutical company Novartis. The trial involved all participants taking the actual medication in varying doses for one year, followed by one year off the drug. Acceptance into the trial involved a commitment of 2 years with trips to Cincinnati every 3 months for monitoring. The medication and required testing were free of charge—getting to Cincinnati every three months was not. Although Alberta Health Services refused assistance because the trial was considered experimental, Kimberly was accepted into the trial and, with the support of friends and family, in May 2009 we made our first of many trips to Cincinnati Children’s Hospital. After one year on the medication, the tumours in Kimberly’s kidneys were reduced over 50%. We also noticed dramatic improvement in her cognitive abilities, a reduction of seizures and improvement in the skin lesions on her face. Although the trial was for a drug specifically targeted toward the kidneys, doctors noted a marked change in Kimberly’s lungs. Not only had the progression of LAM slowed, the fluid in her chest cleared and her lung capacity showed great improvement. Our gratitude and excitement were overwhelming. When your child is very ill, every battle won is a joyous victory. It is our understanding these trial results will be published in early 2011. A similar trial of the same drug was carried out at Cincinnati Children’s Hospital by the same doctors conducting the kidney trial. This trial studied the effects of the drug on the brain tumours associated with TSC called subenpenymal giant cell astrocytoma (SEGA). The results of this trial were so positive and so conclusive the Federal Drug Administration approved the drug for use in the United States very quickly. The drug was approved under the name Afinitor and is currently considered in the treatment of SEGA in the USA. Doctors are very hopeful that Afinitor will be fast-tracked by the FDA for other uses following the extremely positive results of the kidney trials in Cincinnati and other trials occurring throughout the USA and Canada. As part of the trial, Kimberly had to stop taking the trial medication for 1 year. The LAM quickly progressed once again causing her kidney and lung function to fall significantly. The facial angiofibroma has returned as have her seizures. Profoundly disheartening, Kimberly finds she is not able to think as clearly, her anxiety levels are on a fast rise and she has difficulty coping with the smallest of deviations from her daily routines and expectations. Kimberly was then accepted into a long term study of the trial medication, which again involves trips to Cincinnati every three months. While the medication and the medical costs are covered by the trial, the travel costs are not. Alberta Health Care will not cover any of these costs. Our family has exhausted our financial resources, so have organized several fundraisers in order to be able to keep her travelling to Cincinnati for this medication. As a family with first-hand experience with the positive effects of this medication, we have no doubt that approval of Afinitor is imperative for the many children and young people living with TSC in Canada. Not only are the results for LAM and kidney AML very positive, a drug that has demonstrated success in tackling SEGA offers great hope. Our family has been so blessed throughout Kimberly’s life. Our gracious Lord has guided us to the specialists we needed to see, the treatments and medications Kimberly needed to have the best health, a clinical trial far away that most people could not get into, and loving friends and family who have supported us throughout this journey. Kimberly’s attitude throughout her life has inspired everyone who meets her. Her positive outlook and joy in the Lord is evident always. Has her life been a tragedy? Not at all, ever. She has been, is and will continue to be a joy until the very last breath, when I know she will joyfully be received in our Father’s arms.