To Test or Not To Test: 5 reasons we think you can and should get a genetic diagnosis for your IRD

 In Blog

Hey LCA or IRD family, does any of this sound familiar?

You or your child has received a clinical diagnosis of LCA (leber congenital amaurosis), RP (retinitis pigmentosa), cone-rod dystrophy, or another crazily-named inherited retinal disease AND…

  • Your doctor wants to help, but isn’t sure where to direct you or what to do next.
  • Your doctor doesn’t even think you should bother. (There aren’t any cures or treatments available so why waste your time and energy?)
  • You’ve been genetically tested at least once (and maybe five times before). No one gets back to you and if they do, the results are negative.
  • Your insurance company doesn’t want to cover the cost.
  • OMG, you’re frustrated! No one seems to be able to give you clear direction and you’re not getting any answers.

On one hand, we wish we could say this experience is rare and unique! But the truth is that you’re in good company. There is still so much confusion around getting to a genetic diagnosis for your inherited retinal disease. The good news is, we are not confused on one item: YOU NEED TO GET TESTED! And here are five reasons why.

  • Misdiagnosis is still more common than we wish. Until you have a genetic diagnosis, you just can’t be sure you really have LCA, or RP, or another IRD.
  • It’s not just about blindness. This is the somewhat scary part that you might not be aware of, but several of the genetic defects that come with these rare IRDs, also impact other organs. For example, some LCA genes are reno-retinal genes, meaning that they may also impact kidney function. We’re not sharing this information to scare you into getting tested, but to highlight just how important it is to make sure you have a clear, genetic diagnosis so you can be prepared and provide the best care possible for any other possible conditions.

Treatments and cures are coming! That tired story of don’t bother because there’s nothing you can do is bogus. There is already a proven treatment for one form of LCA (RPE65) and there will be others. If you don’t have a diagnosis, you can’t participate in clinical trials or take advantage of treatments as they become available. That is a real bummer.

  • We know where you can get tested. We are so close to cures and treatments today that there are FREE programs like Spark Therapeutics’ ID Your IRD and programs through the Foundation FIghting blindness that you may be able to take advantage of. Check out our website resources for information, or contact us and let us help!
  • Knowledge is power. ‘Nuff said.
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