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Frequently Asked Questions (FAQ)

1) After the initial consult with Dr Koenekoop, do I have a follow-up appointment and if so, when?
For most patients, Dr. Koenekoop will only be able to see you at your first visit, but he will not be allowed to follow you as a regular patient. However, you will still be his patient, and if there are ever any important developments (for example, the discovery of your gene or the availability of a new treatment for you), Dr. Koenekoop will contact you! Furthermore, if you have any questions you can always send an email or call!

2) Who will see me on a regular basis if Dr Koenekoop only sees me once a therapy has been found for my particular case?
You can be followed by your regular ophthalmologist, and of course if anything regarding your particular case changes Dr. Koenekoop will let you know.

3) When can I expect results for the blood initially sent to a Genetics lab?
Genetic testing can be complicated and therefore the results may take several months to arrive. However, patients can choose to pay to have their samples sent to a specialized lab which can complete the testing much faster.

4) Will I automatically be called when a therapy has been found?
Yes! Dr. Koenekoop will call you as soon a treatment becomes available for you!

5) What therapies are available now and for which eye disease?
Currently in Canada, treatment with vitamin A, omega-3 and lutein is offered. However, many new therapies are being investigated and on the way; please see our “Upcoming treatments” page for more information!

6) Do the available therapies simply stop or reverse the progression of the disease?
The vitamin A, omega-3 and lutein treatment that is currently available is able to slow the progression of disease. However, some newer treatments that are coming are able to stop progression or even recover vision!

7) Are therapies available outside of Canada available to anyone?
If a therapy available outside of Canada is appropriate for your disease, you may be able to travel and pay for treatment (although this will depend on the treatment). However, be careful as there are some false treatments being offered that are not supported by any scientific evidence! If you are unsure about a treatment that you hear about you can always ask us first to be certain!

8) Is microchip surgery available in Canada, and if so, where?
Microchip surgery is currently unavailable in Canada. However, it is available in Europe and has recently been approved by the FDA.

9) Does Dr Koenekoop fill out forms for the government and for licenses and what is the cost?

10)   I am the sole person in my family with this eye disease, why me?

It is possible that you have an “autosomal recessive” disease and that both your parents were carriers. Another possibility is that a new mutation occurred and you are a “sporadic” case. Please see our “Basic genetics” section for more details and explanations!

11) If I am a carrier, will I ever get the disease or just pass it on to my children?
Most of the time, if you are a carrier you will not get the disease. As a carrier, you have the potential to pass a mutation on to your children; however, your children would need 2 mutated copies of the gene to develop the disease. Please see our “Basic genetics” section for more information.

12) Will I see a cure in my lifetime?
It is very likely that cures will be developed in the your lifetime! See our “Upcoming treatments” page for information on therapies that are currently being investigated.

13) Why won’t Dr Koenekoop follow me until a therapy has been found?
Dr. Koenekoop is a pediatric Ophthalmologist and is therefore only allowed to follow pediatric patients on a regular basis. However, you are still his patient and he will be in contact with you if there is ever any important news (such as the discovery of your gene or the availability of a new treatment for you)!

14) I am a carrier and just had a baby, can I have him or her tested?



15) What is the gene responsible for my disease? Will they call me when they find the gene?

By taking a blood sample and sending it to a genetics lab, we can try to identify the gene responsible for your disease. If it is found, Dr. Koenekoop will contact you and let you know the gene.