How I approach decisions about my daughter’s FA treatment
When the options feel overwhelming, here's what I remind myself
“Yeah, that was not me. It was you.”
I finally said it out loud after all these years. I was not the first person to recognize that our daughter Amelia, then 4, was experiencing symptoms of Friedreich’s ataxia (FA); it was my husband. He noticed things that I, despite my extensive training as a social worker, had overlooked.
Now that Amelia is 13, it’s so easy to look back with some sense of guilt, especially when we fill out new intake forms that detail our daughter’s medical journey.
Once Amelia’s decline was clear, I aggressively pursued answers and possible treatments. I’ve joked that I was making up for my delayed response by overresponding. Yet I don’t think this reaction was always good for my mental health. It’s led me to often repeat a singular phrase to myself: “I am making the best decision I can, with the information I have, at the time that I have it.”
I make the best decision I can by consulting with those I trust, including Amelia’s medical team, wise members of my community who understand this journey, and knowledgeable people who love my child. I stay engaged in learning more about who Amelia is and who she is becoming. I try to empower her so she has a voice in her medical journey. Then I work to align our decisions regarding her care with what we know about her as a person. Through all of it, I remain rooted in my core values while also ensuring that we’re having fun.
I’ll never have all the information regarding FA, but I do work to stay informed. Even if I cannot understand all the medical language, I read and push myself to grow. Sometimes I’ll look back with the advantage of time and judge past decisions, having learned more about this disease’s impact on my daughter’s body. In those moments, I must remind myself that I didn’t have the information then that I do now. All I can do is parent in the present.
Making decisions about clinical trials
As a parent of a pediatric patient, I’m encouraged by treatment opportunities and clinical trial options, but having these choices requires me to make informed decisions about the next steps in Amelia’s care. Sometimes I feel a bit overwhelmed.
As of this writing, Biogen is conducting an ongoing Phase 1 trial, called BOLD, to evaluate how Skyclarys (omaveloxolone) is processed in the body and how safe it is among FA patients ages 2-15. (The therapy is approved in the U.S., Canada, the European Union, and other countries for FA patients ages 16 and older.) And in June, the same pharmaceutical company initiated dosing of Skyclarys among the same pediatric population in a Phase 3 trial called BRAVE.
Meanwhile, Larimar Therapeutics is publishing study results and seeking accelerated approval of nomlabofusp, its experimental FA treatment that had been known as CTI-1601. I’ve attended every webinar about nomlabofusp and read through every article I can get my hands on regarding potential upcoming trials for this drug.
In addition, a decision regarding the approval of PTC Therapeutics’ drug vatiquinone is due this month by the U.S. Food and Drug Administration.
A plant has the courage to grow in a unlikely place. (Photo by Elizabeth Hamilton)
As we make decisions and choose or decline various medical interventions, I find myself taking a deep breath. What if we make the wrong choice? What if I miss something? The doubt and guilt from those early symptom days knock at the back door of my mind.
These questions were running through my mind during a recent walk. As my thoughts raced, my eyes floated up. On the side of a bridge, a large plant was growing. The view of the green against the metal stopped me cold. I chuckled as I snapped a picture at the tenacity of a plant that, despite all odds, was thriving at least 20 feet over the street below.
It was the reminder I needed that I have no idea what will grow out of this journey. All I can do is take things one step at a time and make the best decisions I can with the information I have at the time that I have it.
Note: Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Friedreich’s Ataxia News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.
About the Author
Clester
I'm from Ohio as well....after many many many neurologists...we found a good one that really goes the extra mile....he has called us on Saturday afternoons more than once...he has ran out and caught is in the parking lot as we were leaving ...he figured out and fixed my wife's numbness , tingling , pins and needles , in her hands when over half dozen other neurologists said it was carpel tunnel... it wasn't!!!
He is Dr Hoyle at OSU Wexner medical center.
There are few Dr's that actually understands FA and he is one of them....though even as an active patient of his it is difficult to get in to see him personally, sometimes having to wait 6-8 months . But he has good competent staff/assistants that do an excellent job communicating between us and him.
Clester
P.s....fixing my wife's hands gave her life back because she couldn't use her hands for anything....even though she had/has minimal use of her hands before and after. ...the numbness/pins and needles kept her from feeling anything and couldn't even hold her stylus for her phone/kindle etc. And since it's very difficult for her to talk and hear, her phone is her primary communication tool for friends and family.