The results were confirmed on a Thursday. Thursday, May 7, 2015 to be exact. It had been a long journey to get here. We had been searching for these answers since December of 2010. One thing is certain, the longer the search the less you want to believe the results. Both of my daughters, Kadence (11) and Addison (8) were diagnosed with Friedreich's ataxia (FA). These two beautiful little girls who are supposed to have a future full of opportunities and a lifetime of shared memories were diagnosed on the same day with this rare, debilitating, life-shortening genetic disease.
The journey from December 2010 to May 2015 was a long one that took multiple turns. My youngest Addison was the first to show symptoms that something was off. Simply put she fell a lot. Like, a lot. She also asked to be carried all of the time, complaining that her legs were tired. I made an appointment with the doctor to discuss it, but what was I supposed to say? "My daughter falls a lot?" Just saying it out loud to myself sounded absurd and like an overreaction to kids being kids. Thankfully our family doctor was understanding, and recommended that we see a pediatrician. Then we waited 6 months for that appointment.
While we were waiting for our pediatrics appointment Addison's pre-school teacher pulled me aside one day. She too had noticed her clumsiness and said that her gait was off. They referred her to the school physiotherapist, which ultimately was what began our journey to the diagnosis of FA.
The first team of doctors that we worked with believed Addison had Development Coordination Disorder (DCD). The girls' father and I worked privately with a doctor who specializes in this disorder. Multiple years and thousands of dollars later we were told that they were ruling DCD out. She was regressing too badly for this to be the proper diagnosis. Suggestions of either Cerebral Palsy or a Brain Tumor were now being suggested to us. It was now June 2013 and Addison just finished Grade 1.
The amount of doctors and specialists, appointments and testing was completely overwhelming. We were still going nowhere, sometimes in circles back to the diagnosis of DCD. On top of all of this my oldest Kadence was now displaying similar symptoms. Her balance was changing, and her ability to walk up and down stairs was regressing. I requested a referral back to the neurologist, the pediatrician and additionally requested an MRI for Addison. I also went back to our family doctor and advised of what I was seeing in Kadence.
It's now July 2014, we're back in the office of our pediatrician only this time it was to discuss Kadence. The pediatrician took a different direction with Kadence and we were referred to a new neurologist. During this time period we also received results back from an emergency MRI that Addison had, and everything came back normal. Perfect brain activity, no signs of any scarring – whatever was going on it wasn't her brain. It was at this point that the referral for genetic testing began. We would then wait until December for these tests to begin.
Waiting for the genetic testing was excruciating. Months went by and we were forced to watch Addison continually weaken, without answers or help. We had been through so much already and after waiting for what felt like an eternity I remember lying awake the night before the genetic testing appointment questioning if I was doing the right thing. I was so upset and frustrated and exhausted. I just want the best life for my girls, and running from one doctor to the next is no way to grow up. What if this next series of tests didn't bring any answers? What if it turned out to just be more time wasted and more stress put on them in the process? Obviously we went.
The first round of testing was nerve conduction, and it was horrendous. It was explained to us that it would be a series of light shocks, similar to dragging your feet on the floor and touching someone. Talk about an understatement! Addison screamed and cried in so much pain. I sat with her holding back my own tears, telling her "it's OK, it will be over soon." When it was finally over they took us into another room. We met with a new neurologist, Dr. Mah, and she immediately reviewed Addison's history and double-checked the nerve conduction test with the nurse to confirm the results. She ended our first meeting by asking if she could run some additional tests on Addison to ‘rule out' Friedreich's ataxia. Not knowing what FA was at the time, but hearing in her tone that it was something we needed to rule out, I whole-heartedly agreed. We then went straight to the lab for blood work.
My Mom, who joined me for most of the girl's appointments through all of this was sitting beside me in the waiting room of the lab. It was there that I Googled Friedreich's ataxia for the first time. I was in pure disbelief. How could this disease that only affects 1 in 50,000 and sound downright horrible be on our radar? They took so much blood from Addison that day I couldn't even watch. It was just too much for one day.
One thing to note about the genetic testing process specific to FA is that there needs to be two genes present to confirm the diagnosis. If only one gene is present then you are just a carrier of the disease, but not actually affected by it. Just for fun, and to add to the already lengthy waiting game of this process, one of these tests happens overseas. It was March (remember the blood was taken in December) and we were called in to hear the results that one of the two genes had in fact tested positive. The second gene was still out at a different lab.
While we waited for the complete genetic test results to come back we had a few other appointments with neurologists and cardiologists. We had tests ran on both the girls, still trying to find some solid answers. Addison came back positive with left ventricular hypertrophy, which means she has hypertrophic cardiomyopathy - a disease that makes the heart muscle abnormally thick. This can make it harder for the heart to pump blood and in some people it causes shortness of breath, chest pain or problems in the heart's electrical system. The doctor knew this was a symptom of FA and she advised that now was the time to have Kadence begin her genetic testing.
During the blood work tests that were ran for Kadence we additionally received a diagnosis of celiac disease. The GI doctor requested she be sent in for an endoscopy to confirm this. To complicate things the anesthesiologist wanted to meet Kadence prior to the endoscopy to confirm she was healthy enough for the procedure. As we were awaiting results for FA we could not confirm how healthy she was, and since FA comes with hypertrophic cardiomyopathy we had to have Kadence screened through the cardiologist prior to the endoscopy.
All the tests, SO MANY TESTS!
So, off we go - Kadence was immediately sent for cardio testing. Addison had another cardio test done too, which included being sent home with a 24-hour monitor. (The girls now both need to do this 24-hour test every 3 months.) Once cardio testing was complete I spoke to the doctor immediately after. He just looked at me and said "I'm so sorry – Kadence has cardiomyopathy." That was the moment I knew. I just knew in my gut that both my girls had Friedreich's ataxia. Mom wasn't with me for this appointment. The appointments were so frequent and so difficult on all of us that I stopped telling her about all of them. I could see how hard all of this was on her.
Finally, May 7, 2015. Confirmation day. The day the genetic test results were fully revealed. I remember the doctor asking me how much I knew about FA. At this point I knew everything there was to know. I explained it all. I stated that everything happening to both of my girls supports the diagnosis of FA. He then confirmed that yes, the genetics results were positive, and both Addison and Kadence have Friedreich's ataxia. We didn't stay long after that. It was strange leaving that appointment. It was a very long road getting here, with the final months leading up to it being the most difficult on all of us, emotionally, mentally, physically. Now it was over. We had an answer, whether we liked it or not. The girls and I decided to go to Peter's Drive In for milkshakes. Kadence cried a lot.
For those of you unfamiliar, Friedreich's ataxia (FA) is a rare inherited disease that causes damage to the nervous system and movement problems. It leads to impaired muscle coordination that worsens over time. Additional symptoms and side-affects include vision impairment, hearing loss, slurred speech, aggressive scoliosis, diabetes and life-shortening heart-conditions such as hypertrophic cardiomyopathy and arrhythmias. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. One thing FA does not affect is the brain. So, while the rest of your body is shutting down your brain is fully active and aware of everything that is happening to you and around you. Maintaining an active lifestyle is the only thing that can be done to aid in slowing the progression. There is no cure for FA.
We talk about the disease openly and often. Any questions they have, I answer. Addison has received her first wheelchair, and is quite relieved to have it as her legs tire very easily. We are working with an education consultant, and I am advocating to my best ability for support in their school. I keep them as active as possible, which at the moment includes swimming, horseback riding, biking, piano, acting and staying active with their friends.
This is our life now. I have two beautiful daughters, both living with Friedreich's ataxia. We truly take life one day at a time, as this disease can change their abilities that quickly.