Grappling With the Possibility of Having Another Rare Disease

My mother has the same rare diseases that I have and among her many chronic health conditions, she also has worsening vision issues. She was ultimately diagnosed with retinal dystrophy (RD), which is a group of degenerative disorders of the retina; some of them are considered rare diseases. There is no cure for RD, and it can lead to blindness.¹

My mother's experience with RD has been night blindness and decreased peripheral vision resulting in worsening tunnel vision. She is unable to drive during dawn or dusk, and especially not at night. It takes a while for her eyes to adjust to light changes and her limited vision further impacts her already poor balance.

Is my mother's rare disease genetic?

It was recommended that she undergo a genetic test to determine which RD she has and whether it is a genetic form. However, she declined to undergo the test because she did not know what the cost would be.

While I understand the concern about cost, I am also left not knowing if she has a genetic form that would mean that I have a possibility of inheriting RD as well.

It's hard to wrap my mind around this possibility

This situation left me with some feelings that I am continuing to process about myself and my mother. RD may be her third rare disease, and if she has a genetic form, what will that mean for me?

It's still difficult for me to fully grasp that she or I may have 3 rare diseases. I'm not quite sure why, as we both have 2 rare diseases that I've fully accepted.

But 3? Why does this feel like it's a lot harder to wrap my mind around? I, myself, am already near developing a third rare disease as it is, and if my mom's RD is another one and I inherit it...my mind spirals.

The not knowing is the problem

I must stop myself. Spiraling doesn't help anything; it increases my anxiety and allows my imagination to run wild with endless worst-case scenarios, and I tend to lean towards the extremes when my wild runs wild.

I realize that even if I knew I also inherited RD, there are no treatments available to prevent or reverse it.¹

But just knowing would be helpful. It's the not knowing, the uncertainty, that's the problem. I don't like uncertainties...I start to do that spiraling again.

So, what can I do in the meantime?

First, I'm going to notify my eye doctor at my next appointment so that they will be aware of the need to monitor specifically for RD and help guide me on how to protect my eyes. I will also discuss genetic testing.

I can maintain my regular eye exams and undergo the myriad of eye tests that my eye doctor offers at my annual exams.

I can consult with a retinal specialist and any others who may be recommended.

I can be mindful of any changes to my vision so that I can immediately notify my eye doctor and begin any possible treatments. For example, when my mother started to have night blindness, she increased her vitamin A intake and found that to be helpful for a period regarding night blindness.

I can follow studies on RD to stay up to date on current research for treatment options and best practices.

Lastly, I can remind myself that I am doing everything in my power to protect my vision. I'm doing my very best; I cannot do more than that.