Being diagnosed is exciting and frightening

Updated: Feb 15, 2021

After struggling since high school. After spending 7 years with Ketchum University. After 2 different genetic tests and being a part of the Fighting Blindness Foundation. Then, finally, after being seen by the USC Roski Eye Institute this January, I was diagnosed with Retinitis Pigmentosa (RP) and Senior Loken Syndrome (SLS).

January 15th 2021, my whole life changed. I finally know what’s wrong with me and why my body is the way it is. To finally know how severe my diagnoses are and how to hopefully take care of myself better. Now is the time to really be proactive about my health more than ever.

Trying to be proactive and trying to not hide in fear of how hard this will be going forward, I sought out support groups and tried to find out everything I could about these disorders. My ophthalmologist called me literally the morning l after my initial appointment, which was Thursday. I checked into the appointment and went through the motions of being evaluated. It’s pretty standard since it was my first time at this office. I made sure to bring ALL my records from the past 7 years and my genetic results. I know he didn’t have much time in my appointment, but they made a copy of everything. He said off the bat I had Retinitis Pigmentosa (RP) which I was expecting, so it wasn’t as hard of a blow just saddening. Then the next morning I kept getting weird phone calls and they weren’t leaving a message. So, by the third call I picked it up and it was a voice I didn’t recognize, so I clearly hung up. They called again, the person on the phone was my ophthalmologist and needed to go over my records. I apologize profusely feeling awful that it was an urgent message about how he was going over all my records that morning, and how I have Senior Loken Syndrome and I need to start getting checked immediately. It’s clearly very serious if he calls 4 times and even after I hang up on him.

My ophthalmologist was very adamant about getting blood work on my vitamin A intake and a comprehensive metabolic panel to check my kidneys function. He also made sure to let me know I’ll be checking in with him every 6 months to see how I am maintaining. Which is fine, thinking I would be working mainly with him moving forward. Then when getting my eyes checked again at Ketchum Eye University for contacts, they asked so many questions about what happened at USC. It was so overwhelming and then proceeded to tell me that I need to follow up with both universities to make sure everyone is on the same page along with my PCP. I see so many more appointments in my future. This was a huge realization for me as well as that my life going forward might look a little different.

Finding support groups and finding anything on Senior Loken Syndrome was harder than I thought. It’s a rare disease. So rare that there is a Facebook support group that has only about 35 people in it, compared to the RP group that has at least 16,000 people. I did learn from the few people who shared their story in the SLS support group that many have had a kidney replacement by at least 18 years of age and have lost most of their vision as well. Many with SLS are diagnosed young, and only 1 in a million worldwide are diagnosed with this syndrome. Yes, it’s very rare and has a very small community. It’s such a small community that there isn’t much known for life expectancy and there is not cure or prevention.

The main thing is to stay proactive and positive right now. I am also trying to be realistic. I have read many people’s journeys with RP and most are legally blind by 38-40, if not sooner. I also learned my kidneys could fail whenever for Senior Loken Syndrome. This doesn’t give me much time for a lot of the goals I have had for this life of mine, but I’m not giving up. There is still time to do everything; I just need to work on a tighter schedule.

Right now, while seeing where I am, at least health wise. Even though everything is looking pretty okay, I am not really okay. Which I wish more people understood. I am visually impaired or visually disabled, I just don’t look or act disabled. I am trying again to add another member to my family. I really struggle with fertility and it might be because of my genetics. I am hoping to have one more baby while I can see them grow up and give my little one a sibling. My schedule is going to be full, but I’ll be living my life to the fullest.

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