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Happy Rare Disease Day!

Writer's picture: Annie KrollAnnie Kroll

DNA made out of leaves and pink flowers

Rare Disease Day is on February 29th every leap year! For rare disease day, I want to share how I joined the HSP (Hereditary Spastic Paraplegia) community, and share some ways you can support someone struggling to get a rare disease diagnosis.


 

For most of my life, we knew I was not going to be a star athlete. I could never bend down and touch my toes, I didn't like to stand for a long time, and I was never a fast runner. However, we thought these were personality traits, not a sign of a neuromuscular disability. However, this changed when I was 15 at a Rams game. Earlier that day I walked up the stairs of the Coliseum, a stadium in Los Angeles California, to find my seats with my parents. However, because we aren't used to nice football game seats, we had to make the trek back down to the bottom of the stadium to find our seats. Once I went down the sea of steps, I had some leg shaking. This leg shaking only intensified, and turned into back spasms. By the end of the night I could not walk without shaking or spasming. By the end of that weekend, I went to urgent care and was diagnosed with a seizure disorder that I am pretty sure does not exist because the seizures happened without any of the traits in the brain that result in a seizure. I was given some medication and sent to school on Monday. By that Thursday I had to leave school and go to Children's Hospital in Los Angeles California due to signs of a brain tumor. I wound up being in the hospital for 8 days. After a spinal tap, 13 needle pokes, and 5 hours in an MRI machine, their tests were inconclusive. I was given genetic testing, and 3000 milliliters of a steroid and sent home. Two weeks later, I got the call that I had hereditary spastic paraplegia and was missing 3/4 of the SPG4 gene. The part of the gene I do have is the tail end, so my entire gene is not active. Only one of two genes in my body produce a protein called spastin, that help keep your muscles elastic. From this point onward, I have been a member of the rare disease community.

Joining the rare disease community can be a stressful time full of confusion, fear, and hopelessness while waiting for answers. I am going to list 5 things I either had during this time, or wish I had during my waiting process:


 

1. It is helpful to have someone go to medical appointments if you are close to them. I still have my mom go with me even though now I know what's wrong to have someone be able to take notes and ask questions. Not going through it alone is so helpful.


2. Being available to talk in a low energy capacity allows for communication without needing to expel energy the person might not have. Sometimes I felt so sick, and so low energy but I also felt lonely. Having friends I could call when I needed to talk and exist outside of my medical experiences was helpful, and I wish I worked on having a larger community during that time.


3. Offering to drop off meals or groceries can be helpful to take some tasks off the other person. I was a kid when I was in the hospital, but I have seen how helpful meal trains can be for adults going through medical crises. If dietary needs make eating out hard, having someone run to the store to get low effort meal ingredients is also helpful so the person can sit and rest.


4. It is nice to extend invitations to accessible plans. When I was in the hospital, or not able to be back at school after I came home, I was not invited to things because it was assumed I couldn't go. I lost friends because I couldn't keep up with the old activities anymore. It is nice to be invited, even if the person can't go. Also, it is important to balance between accessible activities and normal activities to balance hobbies and maintaining the friendship.


5. Lastly, it is important to communicate your own boundaries when offering to help. I have great friends, family, and my partner around me now. One of the reasons I can balance managing my disability now is because I have a community of people where if an activity isn't accessible, I know it isn't personal and I have other places to go. I know I will be invited next time. And when I am wanted there, I know my community will help to make it accessible. While sometimes I am sad to miss out, not everything can include me 100% of the time. Clear communication helps the person struggling know you want to be around and help them. This way they know that when you are doing something they can't do right now, they know you will chose something they can do another time.


 

Thank you for reading about my experience with becoming diagnosed with a rare disease. If you have any questions or comments, feel free to reach out at @Anniekrollblog on Instagram or Facebook. Thank you for reading, and I hope to see you next week!

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