Written by Erin Sullivan
I often ask myself, “How did I get here?” No one anticipates having a familial genetic mutation that can cause a terminal brain disease, but here I am. After my mom received a confirmed CSF1R diagnosis, there were many warring emotions – affirmation that we finally understood what we’d been seeing for a few generations, relief that we finally knew for certain the disease that was causing my mother’s decline, sadness that there were no viable treatment options for her, and fear that I and others in the family may also carry the mutation.
Since the day we received her genetic mutation results, I have been on a journey of my own, preparing myself for the day I would take the step to be tested. Although this is a challenge to write, I want to share this chapter in my life – my road to genetic testing – in hopes that it may help others facing the same decision.
Nearly a year and a half ago, I attended my first genetic counseling appointment. The short recap is that it was a disappointment. I knew more about the disease than the counselor. She did, however, give me one solid piece of advice: “Before moving forward with testing, talk with an expert doctor.” Over the course of the next months, I diligently tried to connect with an expert in ALSP, but I faced so many roadblocks, such as insurance, travel expenses, and unwillingness to be seen, that I changed course. I attempted to establish a relationship with a community neurologist. Despite my best efforts, none would see me. I had no neurological symptoms, I did not possess positive test results, and they didn’t know or understand the disease.
In the meantime, I worked with a financial advisor to consider all potential financial options for long term care. My husband and I worked together to establish a plan that we were both comfortable with. It is not a perfect plan, but we have pieces in place in case I would ever become symptomatic.
I also spent much time during the last year determining what pieces I would need in place to feel comfortable moving forward with testing, particularly if my test results were positive. I came up with this list:
- A protocol to monitor asymptomatic CSF1R carriers
- Easy ability to be connected to an expert doctor
- Research study opportunities
Thankfully, I am in an excellent position to help make this list a reality. Working with Sisters’ Hope Foundation and wonderful, compassionate doctors, these pieces are in place.
This week I have a new genetic counseling appointment. Through the efforts of Sisters’ Hope and industry partners, we now have counselors that have been educated on ALSP. They will be able to speak knowledgeably about this particular disease.
I won’t lie. I am scared. I am struggling with hypochondria; every little sensation sends me to the verge of a panic attack. But I am also confident in my decision to move forward. For me, I know that now is the right time to be tested. The medical community is deeply interested in ALSP. Doctors, researchers, and industry partners are working tirelessly to understand this disease and to find viable treatment options. I want to do my part to continue to push research forward – for myself, my family, and other families living with this disease.
I am also hopeful. When my mother became ill, my prayer was that the Lord Jesus would be merciful (which He was) and that He would bring good from our suffering (which He is). I know that regardless of my genetic test results, good will be brought forth through this process. It is my hope, along with Sisters’ Hope, that we will see the first survivor of ALSP.
To be continued….
Find the original copy of this story at the Sisters’ Hope Foundation.