ABCA4, Blind, Cone-Rod Dystrophy, Disability, eye disease, genetic, Retinitis Pigmentosa, Sight, Stargardt's, vision

New Update: Part 1

Hello,

I know it has been a while since I have updated all of you. Between COVID-19, new professional opportunities, and to be perfectly honest, my processing of all the new and different information I have been given related to my vision, I have been overwhelmed.  I am not sure how many parts I will need for this update, but I know it will be at least two. I do not want anyone to experience eye fatigues because the update was too long.

Let us start with my genetic counseling session after the trip to Gainesville. Because my genetic counseling was done over the phone, it was not delayed due to the Say-At-Home order, as it was scheduled in March. My evaluation by my new doctor did become collateral damage, though; we did not get to meet until much, much later (see future update). My husband was at work, so I had my mom sit with me on speaker, I did not want to miss anything. I will warn you, if you can find out your exact genetic code for your inherited eye disease, the genetic counseling session may not go the way you expect or want it to. I found it somewhat frustrating, informative, and generally confusing, but maybe not for the reasons you might assume.

Why I was Frustrated…

It took about 45 minutes into the conversation for the counselor to tell me what gene was affected!  I think we were on the phone for approximately 1 hour and 15 minutes and it took over half of that time to get the definitive diagnosis I had been anticipating desperately for 6 months and ultimately, to a lesser extent, for 24 years. Why this long you ask? The counselor had me go through an extensive family health history as well as my vision history. Is this in my records? YES. Is it on My Retina Tracker? YES. I get it. My genetic test was paid for by a research grant and the steps need to be taken in the right order. I have conducted and helped design research studies in undergrad, but this knowledge did not make it any less frustrating. And yes, if the counselor had told me the information I so urgently wanted to know, I probably would have been less forthcoming with the answers she needed to clarify with me. Still frustrating.

Why it was Informative…

I learned that my diagnosis is an abnormality in the ABCA4 gene. Which is good to know but is difficult to pinpoint as this gene is responsible for causing many visual disabilities including, but not limited to, Cone-Rod Dystrophy, Stargate’s Disease, and Retinitis Pigmentosa. So, at this point, still lost in the diagnosis whirlpool.  

Why I was Confused…

First, I did not rally have a clear answer. I wanted to be able to put a name on the problem, and now I just had more names. Which again was frustrating. My family, friends, and online support system does not understand ABCA4. Even now, I am just coming to understand it in a meaningful way.

Second, I do not know what to tell people. I tried to compare the process of my vision loss (Vitamin A toxicity) to the process of sugar processing in diabetics; by the way, it sounded identical to me. I wanted an analogy that would bee more accessible for people to understand. The counselor completely shut me down on that. She told me to “just tell them exactly what I told you.” Um, my experience educating the public about my vision has shown me that the more simplistic and general I can get, the more receptive people are to listen to me and understand. I have not told anyone exactly what she told me. It was too technical and boring for me to understand, I do not feel like a person who is not that invested in me or the VIP/blind community would get anything from that interaction. Except maybe to find me, and thus the community, as being more different, harder to understand and thus more difficult to accept. Everything I am trying to combat, not contribute to.

Lastly, I was confused, because my doctor of 23 years had never explained these things to me. Again, I felt betrayed, but also ignorant and naive for trusting him for so long. This is the kicker and is something I am still working through in all honesty.

Alright, update part 1 is done. To be continued…

~Lindsay Gomez

1 thought on “New Update: Part 1”

  1. Perhaps if you explain it as your system cannot process Vitamin A, and it becomes toxic? Would people understand that Vitamin A is usually beneficial, but in your case it is the opposite? I’m looking forward to continuing updates from you. Best wishes!

    Liked by 1 person

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