February 15, 2022, did not start out as every other day. I had flown to Jacksonville, Florida the day prior and was now nervous, yet excited and ready to meet the amazing team of doctors at the Mayo Clinic in Jacksonville, Florida.
How can it be that just 10 years ago I lost my mom to ALSP, at the same time the Mayo Clinic identified the gene which causes ALSP, then referred to as HDLS. I was about to meet this team of devoted and dedicated clinicians. I had met Dr. Wszolek on zoom meetings and once in person but never had his attention for an entire day and the attention of a team of doctors he hand selected to work with him on ALSP.
The 33-degree Florida morning (which is much warmer than a 33-degree Pennsylvania morning) started by meeting Julianna Rose, Study Coordinator, who was the official tour guide for the day. She happily set all priorities aside and greeted me in the beautiful lobby of the Mangurian Building.
The first meeting was with Dr. Philip Tipton, Neurologist specializing in movement disorders and neurodegenerative diseases. He did his research on Sisters’ Hope Foundation, my family’s story and I made sure to mention my nephew is attending his alma mater, University of Tennessee. We shared an amazing conversation about quality vs quantity of life, knowledge is power (watch my first video…I am knowledge is power), microglia, gait, phenotypes, variants, mutations…all these exciting words that only the sole sibling survivor and President of an ALSP foundation truly enjoys talking about…or a Neurologist who specializes in movement disorders and neurodegenerative diseases.
Next was a video interview with Dr. Wszolek, Professor of Neurology. The Mayo Clinic Public Relations Team was all set up and ready for me when I arrived. I spent the past ten years understanding ALSP, I started a foundation and help patients, families, and caregivers with this disease but when you sit across from the world-renowned expert in ALSP you quickly forget what you are supposed to say. You forget the list of questions you have in your head. Here I was…in the same room with the doctor who has worked with more ALSP patients than any other physician in the world. He works with the team who identified the CSF1R mutation which causes ALSP. To say I was intimidated is an understatement. Hopefully, I was able to fool everyone, and the PR Team will be able to work with the footage they collected. We will all have to wait and see…the video will be released on March 1 at the kickoff event for ALSP Awareness Month. More details to follow.
Next on my list of meetings is the Assistant Professor of Psychology, Beth Rush, PhD. Dr. Rush conducts neuropsychology testing on ALSP patients. I was so excited for this meeting. I was pleasantly surprised by Dr. Rush being even more excited to meet me. I learned about Neuropsychology testing when Holly was in Minnesota. I don’t know why every patient does not receive this test except that it is costly. It is a game changer for those struggling with a dementia especially when it is an early onset disease like ALSP and the care team at home does not know what is truly happening inside that person’s brain. This test is hard for the patient, but it will identify what needs to be addressed in the home or with a social worker.
For example, with Holly we learned within 3 months she declined so rapidly that she could not be left alone. She no longer understood if she turned on the stove, she would also have to turn it off.
I left this meeting with an exciting to-do list and an opportunity to collaborate on more projects with an expert.
Some important take-aways from our conversation;
• We have a treatment, BMT, which can potentially save a person’s life but if the patient is young, already have brain changes and dementia, how do we care for them for the next forty years of their life after they return home from a BMT. This is a very important questions you should discuss with your family.
• The conversation around quantity of life vs. quality of life is critical and that is a very personal decision with no right or wrong answer.
• Living wills, POA, healthcare directives all are important aspects which need to be addressed when diagnosed with a terminal illness.
Next on the schedule was Pathology. I am not sure that many people could relate to my excitement unless your family is being wiped out by an incurable brain disease and you want everyone to understand the benefits of brain donation and research. Post-mortem research is critical when dealing with a rare disease. In my family, my mom and her siblings donated brain tissue to a brain bank which led us to know exactly what disease we were dealing with.
Again…knowledge is power…people!
Dr. Dennis Dickson, Pathologist, was a perfect host in the Pathology Department. Passionate about the work he is doing is an understatement. Maybe someday I will be able to see a brain in the lab but for now I will settle for the tissue on the slides, microscopes and knowing this team is passionate about ALSP research.
Fun Fact: (I was once told there are no fun facts when dealing with ALSP…I found a fun fact) The Mayo Clinic accepts the brain tissue from anyone who is willing to donate. You do not have to be a patient of the Mayo Clinic. This is not the case at other facilities. Please consider donating to the brain bank, postmortem, of course.
Then, Julianna, Dr. Wszolek and I met with Dr. Erik Middlebrooks, Neuroradiology. This is the person who will see your brain images on CT and/or MRI. We had a great conversation about new technology and the future of imaging.
The day ended with Dr. Ayala, Hematologist. Dr. Ayala is part of the Bone Marrow Transplant team. If Dr. Wszolek believes you are a candidate for bone marrow transplant, he will ask if you would be interested in speaking with Dr. Ayala, who will make the time to meet with you. We talked about the chemotherapy that Mayo uses for ALSP and why he feels this less aggressive type of conditioning is best for adult patients.
At the current moment, bone marrow transplant is the only option available for ALSP patients. This option may not be right for everyone. It is a very personal decision and should not be taken lightly.
The Mayo Clinic campus in Jacksonville, Florida is beautiful. I was treated with respect and felt the passion of the entire team. I am in awe of the dedication and determination to find a cure for ALSP.