I must say, this was very interesting. Surely there are people who have what you do or close to it. There are also viewers who will greatly benefit in some way just by your information. What you shared will be just what somebody else needed even if they never tell you. Great job! You blessed somebody else without knowing.❤
Lovely Video clip! Excuse me for chiming in, I would love your opinion. Have you heard about - Parlandealey Reducing Fat Process (should be on google have a look)? It is an awesome one of a kind product for revealing the secret to eradicate your urticaria without the hard work. Ive heard some pretty good things about it and my close friend Aubrey after a lifetime of fighting got excellent results with it.
First of all, your puppy is absolutely adorable. Secondly, it’s eerie you posted this as I literally just sent my specimen in for my second try at genetic testing. I tried in 2014, but it came back inconclusive so I reached out to my eye dr won’t the link for the free genetic testing through Spark Therapeutics. I had children young so my main goal was simply to ID my specific gene as we’re not sure what my exact condition is. I had taken the ancestry DNA test for myself and my kids and ran it through a program called Promethease. I was unable to find anything in my results, but my children did come up as carriers as Stargardts. I am dying to get my results already lol so exciting and nerve-wracking.
Lol thank you! She is definitely a cutie. And that is quite a coincidence. That’s good that your children are unaffected carriers. I hope they are able to identify your gene this time around. Fingers crossed for you!
Hey Cayla! Very interesting video so far, I am still watching but just wanted to say it is interesting that foundation fighting blindness is only offering free genetic testing in specific states. That is so weird to me. Either way, it is nice to know they are still offering the free testing. Last I heard they were nearing the end as funding was running out. OK, back to the video! :-)
Oh, maybe I didn’t communicate this clearly. They are currently offering the genetic testing to all 50 states. But that just started in October. When I first did the genetic testing back in August is when they were only offering it in a few states, and it has since changed. Hope that clears it up
Cayla with a C sorry about that, I’m sure you described it exactly and accurately, maybe I just misunderstood. Sorry, that was definitely my mistake :-)
This is very interesting. Your experience sounds very similar to mine. If we didn’t have the genetic testing to confirm the gene causing my retinitis pigmentosa, I would tend to think that I would have the same thing as you as I was also diagnosed at a young age and experienced symptoms many years before the diagnosis. Not only that, it seems that my vision is far worse than the majority of people with retinitis pigmentosa. I am not trying to make this comment all about me, but I just see so many similarities from what you are saying to what I also experience. Very interesting! Thank you for the great video, I really enjoyed listening to it! Also, I’m very happy to hear that it is very unlikely you will pass this on to your kids. That is a huge relief! Thanks again for the video! Matt
Hi Matt! I’m glad you liked the video. Our vision has always seemed to be very similar and I wouldn’t have been surprised if we ended up with the same gene mutation. It still blows my mind how much variance there is with RP. There are people like you and I who barely have any vision at all left by young adulthood, and there are others who are still driving at the age of 50. And yes, I’m very glad to know that this won’t be something that will be passed down in my family
Cayla with a C hi Cayla. I agree with you, it seems like our vision is so similar and just like you said, both of us were diagnosed at such a young age while others are diagnosed late in their 40s and driving around into their 50s. It seems like the vast majority of people with retinitis pigmentosa are diagnosed much later in life and that there are only a few people out there like you and me who are diagnosed so young. It is just so interesting, thanks for sharing your experience :-)
Glad to know I wasn't the only one who had trouble with getting genetic testing for RP! It took two different companies and a lot of hoop-jumping to get mine identified. My RP is caused by a CRKL gene defect, and nobody in my family has had anything like my RP. My genetic counselor told me the big issue with knowing more about what specific genes do for progression/symptoms is due to how little they know (for now).
Hi...Could you help in testing my son 22 yrs old diagnose for 5 years and we are palestinian refugees , could you kindly including him in the trial of genetic therapy , please as ahumanterian issue it is very expensive , if you handle the honour of help please reply on me
Hello, Cayla. I’ve following you since a couple of months. I really like your channel! Thanks for sharing. About your gene, i suggest you to join the facebook group: “retinitis pigmentosa - research and potential treatment “, then inside the group look for the word “poll”, then you will find a statistic where many membersanswered the poll telling their affected gene. I just checked out your gene and it happens to be 9 persons have it !!! So, if you got any doubts please ask me😉. Regards!!
Thankyou so much for sharing your experience. Got to know about my RP in eyes recently. And i am so demotivated in my life about hearing this. Can we have a one on one conversation? Would be very helpful to me as i am only 20 now and meed to take decision about life Thankyou.
Thanks for the video. I'm studying diagnostic genetics. I always like to watch personal perspective videos on the conditions I am currently researching and also how and why you went about seeking genetic testing. I will let you know if I come across any interesting information about RDH12 autosomal recessive mutations within the next few days.
I have at two different genetic testing experiences. the first one I had done was 1993 when I was pregnant with my first child. unfortunately it was before they had as much knowledge about genetic testing as they do now. From what they could tell my child to be had approximately a 50-50 chance of inheriting my eye condition. 12 years later I had more testing done with my three boys. That test conveyed that I had a scramble of a certain chromosome, other than being totally missing which is sometimes the case. My First son did not inherit my chromosome disorder or my eye condition. My second and third son did inherit my chromosome disorder and my eye condition. Fortunately for them their condition wasn't as severe as mine was. They are both legally blind like I am, but haven't had to struggle with severe glaucoma like me.
Hi Kayla, what a phenomenal video! I have documented my genetic testing experience in a RUclips video and my experiences were unusual to say the least. I first went to the head of the genetics department at our states Premier medical University. I met with the head of the genetics department who finally, after about three hours of history, said, “we just don’t do a lot of retinal testing here“ he also included that I probably would not pass my genetic defect on to my children because the odds of my children inheriting my defect would be virtually impossible because they would have to Nate with an individual who had the exact exact same defect. I retorted by saying that it would kind of be like my mother marrying my father, right? Neither my mother or father had any history at all of visual problems. About three years later, I was contacted by my optometrist who did regular eye health check ups. He referred me to a person who I already was acquainted with who was now doing genetic testing based on his own interests and buy diseases. I went to his office, got a blood test, got an extensive Family medical visual history and he knew exactly which occurs to request in the genetic testing. I waited about six weeks and as I returned for the follow up visit, he entered the operatory with a smile on his face explaining that he had discovered what my genetic code for my retina disease, is. It is, a, B, C, A, four. It is cone rod dystrophy and also is Stargardt‘s disease. Like yours, it is autosomal recessive, meaning that my children are definitely carriers but both of my daughters who are now in their 30s, do not exhibit any difficulties in vision. They are most likely carriers, but my granddaughter does not exhibit any, difficulties in vision as well. I accompany my granddaughter each year to her annual visual medical appointment and thus far, she has no signs or indications of any retina disease. My disease manifested as early as age 4 but I have memories earlier than age 4, in which I was not able to see things that my siblings, cousins, parents could see. Even though, or intent was to get a definitive genetic profile, I believe that LCA is one of the retina diseases that has been successfully treated. I don’t know if LCA is in clinical trial status or if it has been approved for FDA treatment but LCA is definitely the retina disease that has received approval for actual treatment with the expectation of improvement. Whether you are interested in improvement or, whether you are interested in treatment for potential children, this is very good news. I am so very interested in your thoughts about this. Because my daughters and my one, biological granddaughter, do not face the difficulties that I have encountered over my lifetime I am so very grateful. That is not to say that I am not thankful or grateful for my experiences as a blind person, it is just to say that I know that my children and grandchild will not be subjected to the difficulties that blindness can create. Like I said in the beginning, this was a phenomenal video! Thank you for creating the dialogue. Love, Beverly
Hi Beverly! It is always good to hear from you. I’m glad you liked the video, and thank you for sharing your own experiences with genetic testing. That’s great that your children and granddaughter are only carriers but are not affected. Of course being blind isn’t the worst thing in the world, but no one wants their children to struggle like we have. I was so relieved to hear that my children wouldn’t be affected. And yes I believe LCA is being treated with some clinical trials, but not for my specific type. I think it’s great that they are developing treatments, but I’m not sure if it’s something I would ever do. It would have to have an extremely high benefit to risk ratio as I don’t want to risk losing what vision I do have left. It also depends on how invasive the procedure would be as I have a pretty intense phobia of medical procedures
Cayla with a C I totally understand medical phobias and the cost benefit ratio. I am of the opinion that, what visual acuity we retain is so valuable and there would have to be such a guarantee that there would be a huge benefit, well, I agree with you. I believe that we are living in such a wonderful age that, in the future, if any of my descendants manifest my visual condition, there will eventually be a treatment, non-invasive and highly successful. In the meanwhile, blindness has its blessings and I experience them every single day. Great content!
Hi cayla you are the same as me my parents were the carriers. Nobody in my family has it either. I have 2 kids and they have perfect vision. RP seems to be a difficult disease. No I never had genetic testing. I did ask my doctor but was told not to bother. Great video
Hi Michelle! Thank you. I’m glad to hear that your children didn’t inherit it. It seems like a lot of doctors have different perspectives on if they think genetic testing is worthwhile, because similar to yours mine didn’t really think it was worth doing either
This is excellent information. Many doctors continue to order small panels (330 genes or less). With retinitis pigmentosa, time is of the essence. How did you find GeneDX? It would be helpful to find a directory of services around the world along with the sizes of their panels. If your house is on fire, should you have to wait 6 weeks for the fire department to arrive? It is outrageous for companies having long delays to see a genetic counselor. How helpful was your genetic counselor? I have read the master’s degree course requirements and am not impressed. For researching medical topics, it is better to use Google Scholar, not only Google.
Hi that was an interesting video I also have LCA I was diagnosed when I was a baby. I have only got peripheral vision which was fairly clear but started to deteriorate in my 20s I also have a condition called keratocotus which is linked in with the LCA which can cause scar tissue on the cornea which gives the impression of Cataracs. Information about LCA online is a bit sketchy and can sometimes be contradictory
Dodge 83 hi! Thanks for sharing. That’s really interesting that you only have peripheral and I had the complete opposite. And I agree, the info I have found online is very sketchy and contradictory
I do recommend anyone with a retinal disease to get genetic testing done. It could change your life. I was diagnosed with RP over 10 years ago and I am currently legally blind. I just had a lot of vision testing done this week to determine if I qualify for gene therapy because of my genetic test results. I have a mutation in my RPE65 gene and that is the only gene that is eligible for treatment at this time. You could say that I am pretty lucky but I always thought I was not. I also just found out that I have LCA... it was pretty shocking and just like you I have almost none of those symptoms either. I am not sure of the specific type i have, but I think maybe they are just using it as a general diagnosis because I have had RP since a child.
That’s really interesting that you were also only recently diagnosed with LCA and don’t have any of those other symptoms. Thanks for sharing your experience
I would love to get testing for Nystagmus. Sometimes it is passed on, however my family refuses to get tested. I worry about one day passing it on to my kids.
hi! cayla! thanks! for sharing, my son is also suffering the same problem of retinis pigmentosa, i m giving him the education of yoga (indian (natural whole body exercises including, specially, eyes too)) for fighting against this disease of retinis pigmentosa in a very - very easy and natural way, this disease will be over according to indian/world yoga guru baba ramdev, i m also a yoga teacher in my area where i m living in india.
Sky Star hi! That’s really cool. I have been wanting to start trying yoga myself. I’m not sure that it will help with my eyes, but I know it has a lot of other great benefits
if yoga has been learnt in a proper way, it will work, i am sure 200% we have to be positive and should believe in ourself, i have been learning yoga since the last 18 years and educating the people since the last 2 years free of cost when i got many many good experiences in my body through this yoga, then, i decided to give all these good benefits to others and now, i have been educating my son also for retinis pigmentosa for the last 4 months since i have knew about his this eye problem.
Hi. It would be very kind of you if you could post some videos teaching step by step those Yoga Methods for Retinitis Pigmentosa. You could help so many people who are living miserably over this planet. Think about it kindly. Thanks a lot in advance.
Hiii Cayla. You are wonderful as usual. I didn't heared.about LCA before so thank you for the information. I'm leagally blind due to RP and i have nystagmus. Also i have exotropia which is the most thing i hate because i don't like my pictures(my lens is.not in the center of the eye).
@@CaylawithaC hhhhhhhh you are welcome. i think it is a medical term but unfortunatelly i dont know what it is called in everyday language (casual speaking). So i googled it and here it is. Exotropia is a form of strabismus (eye misalignment) in which one or both of the eyes turn outward. I have it in my right eye and it is one of the rp symptoms.
HI CAYLA!!! AS ALWAYS IT IS A PLEASE TO HEAR YOU AND I BET YOU LOOK FABULOUS TOO!! FUNNY THAT YOU MADE A VIDEO TALKING ABOUT GENETIC TESTINg AS MY EYE DOCTOR RECOMEnDED TO ME TO LOOKI INTO GENE THERAPY. SO THAT IS WHAT I AM WORKING ON RIGHT NOW. YOUR TESTING WAS VERY INTERESTING AND IT IS AMAZING TO SEE HOW MANY PEOPLE HAVE DIFFERENT TYPES OUT THERE OF RP. SO THANK YOU FOR SHAREING YOUR EXPERIENCE AND ALL!!! I WILL LET YOU KNOW HOW THINGS GO WITH ME AS THINGS PROGRESS. MY WORRY IS THE INSURANCE SIDE OF IT. BY THE WAY, HOW IS YOUR HUSBAND AND HOW IS COLLEGE GOING? I BET YOUR DOING AWESOME AND KICKING BUTT!!! LOL!!! TAKE CARE AND WE WIILLL SEE YOU AGAIN IN THE NEXT AWESOME VIDEO YOU COME OUT WITH!!! HUGS WITH LOVE!!!
Hi Steven! Thank you! It’s always good to hear from you. My husband and school are both great. I would love for you to keep me posted on how gene therapy goes for you. I’m guessing that you’ve already done genetic testing and have identified the gene?
@@CaylawithaC NO I HAVE NOT DONE THE GENETIC TESTING YET. I AM HOPING TO WORK WITH THE FLORIDA GATORS COLLEGE THAT HAPPENS TO WORK WITH THE COMPANY THAT IS CALLED FIGHTING SOMETHING. (I CAN'T REMEMBER IT). YOU MENTIONED IT IN YOUR VIDEO. LOL!!! THE COLLEGE WOULD DO THE GENETIC TESTING, CLINICAL TRIAL GENE THERAPY IF I HAVE THE GENE THEY ARE WORKING ON. IT SEEMS FROM MY RESEARCH, THAT THESE CLINICAL TRIALS ARE LOOKING FOR THE X-GENE. SO IF SOMETHING ELSE SHOWS UP ON MY GENE TEST, I GUESSS I WOULD NOT BE ALBE TO GET THE GENE THERAPY. BUT FOR SURE I WILL LET YOU KNOW ONE WAY OR ANOTHER!! HUGS.
@@CaylawithaC I WAS WONDERING, HOW DID YOU GET TO DO 999 GEBE TESTING? DOES THE MY RETENA TRACKER GO THAT HIGH? OR DID YOU GO THROUGH A DIFFERENT PROGRAM? THANKS CAYLA. HUGS AND LOVE.
I didn’t go through my retina tracker which is the free genetic testing funded by the foundation fighting blindness. I just went through my local genetics clinic who ordered the 900 gene panel from a lab called Gene DX
I want to have genetic testing as well, Retinitis also started early on for me, I was already wearing glasses in Kindergarten, I was wondering how your vision is currently? I'm in my 30's I've already had cataract surgery, even Yag on my left eye. Currently it looks like my left eye is getting a little cloudy from the disease and I do need help when going anywhere that's not my house, People's faces are basically a blur now.
@@CaylawithaC Thank you, I actually meant if you researched about what the possible ways of how did you get it before doing the test, since you don't have a family history either. Sorry if I'm bothering you just wanted to ask someone with more experience and you seem really nice. Thank you.
My mom was just diagnosed with labors predatory optic neuropathy in town shortly after that my vision got severely impaired and they are assuming I have the same dream because it’s past through the mother is that related to you since I heard the word lever in your diagnosis I’m not really too interested in DNA testing just because of all the other things that may come of it more questions more confusion
Oh wow, what a coincidence. Do you mind if I ask how old you are and what your experience has been with your vision loss? If you feel more comfortable having a private conversation, you can message me on Twitter @its_CaylawithaC
I'm 44. I was diagnosed at age 4 with RP. When I received my DNA results and read about LCA I was stunned. My main problem growing up was night vision and low light was hard but I didn't start noticing a big difference in my peripheral vision until I was around 21. I basically have no peripheral vision now. I have two children who have perfect vision Thank God.
Oh that’s really interesting. I was also diagnosed with RP when I was 4. I don’t think I have ever had peripheral vision though. How is your central vision now?
I must say, this was very interesting. Surely there are people who have what you do or close to it. There are also viewers who will greatly benefit in some way just by your information. What you shared will be just what somebody else needed even if they never tell you.
Great job! You blessed somebody else without knowing.❤
Thank you so much! I truly do want to help people, and if my videos help only one person then they are worth making
Lovely Video clip! Excuse me for chiming in, I would love your opinion. Have you heard about - Parlandealey Reducing Fat Process (should be on google have a look)? It is an awesome one of a kind product for revealing the secret to eradicate your urticaria without the hard work. Ive heard some pretty good things about it and my close friend Aubrey after a lifetime of fighting got excellent results with it.
First of all, your puppy is absolutely adorable. Secondly, it’s eerie you posted this as I literally just sent my specimen in for my second try at genetic testing. I tried in 2014, but it came back inconclusive so I reached out to my eye dr won’t the link for the free genetic testing through Spark Therapeutics. I had children young so my main goal was simply to ID my specific gene as we’re not sure what my exact condition is. I had taken the ancestry DNA test for myself and my kids and ran it through a program called Promethease. I was unable to find anything in my results, but my children did come up as carriers as Stargardts. I am dying to get my results already lol so exciting and nerve-wracking.
And my kids are UNAFFECTED carriers. I should’ve specified that.
Lol thank you! She is definitely a cutie. And that is quite a coincidence. That’s good that your children are unaffected carriers. I hope they are able to identify your gene this time around. Fingers crossed for you!
Hey Cayla! Very interesting video so far, I am still watching but just wanted to say it is interesting that foundation fighting blindness is only offering free genetic testing in specific states. That is so weird to me. Either way, it is nice to know they are still offering the free testing. Last I heard they were nearing the end as funding was running out. OK, back to the video! :-)
Oh, maybe I didn’t communicate this clearly. They are currently offering the genetic testing to all 50 states. But that just started in October. When I first did the genetic testing back in August is when they were only offering it in a few states, and it has since changed. Hope that clears it up
Cayla with a C sorry about that, I’m sure you described it exactly and accurately, maybe I just misunderstood. Sorry, that was definitely my mistake :-)
This is very interesting. Your experience sounds very similar to mine. If we didn’t have the genetic testing to confirm the gene causing my retinitis pigmentosa, I would tend to think that I would have the same thing as you as I was also diagnosed at a young age and experienced symptoms many years before the diagnosis. Not only that, it seems that my vision is far worse than the majority of people with retinitis pigmentosa. I am not trying to make this comment all about me, but I just see so many similarities from what you are saying to what I also experience. Very interesting! Thank you for the great video, I really enjoyed listening to it! Also, I’m very happy to hear that it is very unlikely you will pass this on to your kids. That is a huge relief! Thanks again for the video! Matt
Hi Matt! I’m glad you liked the video. Our vision has always seemed to be very similar and I wouldn’t have been surprised if we ended up with the same gene mutation. It still blows my mind how much variance there is with RP. There are people like you and I who barely have any vision at all left by young adulthood, and there are others who are still driving at the age of 50. And yes, I’m very glad to know that this won’t be something that will be passed down in my family
Cayla with a C hi Cayla. I agree with you, it seems like our vision is so similar and just like you said, both of us were diagnosed at such a young age while others are diagnosed late in their 40s and driving around into their 50s. It seems like the vast majority of people with retinitis pigmentosa are diagnosed much later in life and that there are only a few people out there like you and me who are diagnosed so young. It is just so interesting, thanks for sharing your experience :-)
Glad to know I wasn't the only one who had trouble with getting genetic testing for RP! It took two different companies and a lot of hoop-jumping to get mine identified. My RP is caused by a CRKL gene defect, and nobody in my family has had anything like my RP.
My genetic counselor told me the big issue with knowing more about what specific genes do for progression/symptoms is due to how little they know (for now).
Yeah it can definitely get complicated. That’s great though that after all of that trouble they were able to identify the gene
You are amazing RUclipsr and person
Thank you Travis!
Great video with a lot of good information! Welcome to the Autosomal recessive Club!
Thanks Sam! It’s a good club to be in lol
Hi...Could you help in testing my son 22 yrs old diagnose for 5 years and we are palestinian refugees , could you kindly including him in the trial of genetic therapy , please as ahumanterian issue it is very expensive , if you handle the honour of help please reply on me
Hello, Cayla. I’ve following you since a couple of months. I really like your channel! Thanks for sharing.
About your gene, i suggest you to join the facebook group: “retinitis pigmentosa - research and potential treatment “, then inside the group look for the word “poll”, then you will find a statistic where many membersanswered the poll telling their affected gene. I just checked out your gene and it happens to be 9 persons have it !!!
So, if you got any doubts please ask me😉. Regards!!
Hi. Thank you! I’m so glad you enjoy my channel. And thank you so much for that information! That’s really helpful
Thankyou so much for sharing your experience.
Got to know about my RP in eyes recently.
And i am so demotivated in my life about hearing this.
Can we have a one on one conversation?
Would be very helpful to me as i am only 20 now and meed to take decision about life
Thankyou.
This was a very interesting video. Thanks so much for sharing your experience.
Thank you! ❤️
Thanks for the video. I'm studying diagnostic genetics. I always like to watch personal perspective videos on the conditions I am currently researching and also how and why you went about seeking genetic testing. I will let you know if I come across any interesting information about RDH12 autosomal recessive mutations within the next few days.
That’s really awesome! And thank you
❤️I also have RP. Take care!
I have at two different genetic testing experiences. the first one I had done was 1993 when I was pregnant with my first child. unfortunately it was before they had as much knowledge about genetic testing as they do now. From what they could tell my child to be had approximately a 50-50 chance of inheriting my eye condition. 12 years later I had more testing done with my three boys. That test conveyed that I had a scramble of a certain chromosome, other than being totally missing which is sometimes the case. My First son did not inherit my chromosome disorder or my eye condition. My second and third son did inherit my chromosome disorder and my eye condition. Fortunately for them their condition wasn't as severe as mine was. They are both legally blind like I am, but haven't had to struggle with severe glaucoma like me.
mrsteresa1999 that’s really interesting. Thanks for sharing!
Hi Kayla, what a phenomenal video! I have documented my genetic testing experience in a RUclips video and my experiences were unusual to say the least. I first went to the head of the genetics department at our states Premier medical University. I met with the head of the genetics department who finally, after about three hours of history, said, “we just don’t do a lot of retinal testing here“ he also included that I probably would not pass my genetic defect on to my children because the odds of my children inheriting my defect would be virtually impossible because they would have to Nate with an individual who had the exact exact same defect. I retorted by saying that it would kind of be like my mother marrying my father, right? Neither my mother or father had any history at all of visual problems. About three years later, I was contacted by my optometrist who did regular eye health check ups. He referred me to a person who I already was acquainted with who was now doing genetic testing based on his own interests and buy diseases. I went to his office, got a blood test, got an extensive Family medical visual history and he knew exactly which occurs to request in the genetic testing. I waited about six weeks and as I returned for the follow up visit, he entered the operatory with a smile on his face explaining that he had discovered what my genetic code for my retina disease, is. It is, a, B, C, A, four. It is cone rod dystrophy and also is Stargardt‘s disease. Like yours, it is autosomal recessive, meaning that my children are definitely carriers but both of my daughters who are now in their 30s, do not exhibit any difficulties in vision. They are most likely carriers, but my granddaughter does not exhibit any, difficulties in vision as well. I accompany my granddaughter each year to her annual visual medical appointment and thus far, she has no signs or indications of any retina disease. My disease manifested as early as age 4 but I have memories earlier than age 4, in which I was not able to see things that my siblings, cousins, parents could see. Even though, or intent was to get a definitive genetic profile, I believe that LCA is one of the retina diseases that has been successfully treated. I don’t know if LCA is in clinical trial status or if it has been approved for FDA treatment but LCA is definitely the retina disease that has received approval for actual treatment with the expectation of improvement. Whether you are interested in improvement or, whether you are interested in treatment for potential children, this is very good news. I am so very interested in your thoughts about this. Because my daughters and my one, biological granddaughter, do not face the difficulties that I have encountered over my lifetime I am so very grateful. That is not to say that I am not thankful or grateful for my experiences as a blind person, it is just to say that I know that my children and grandchild will not be subjected to the difficulties that blindness can create. Like I said in the beginning, this was a phenomenal video! Thank you for creating the dialogue. Love, Beverly
Hi Beverly! It is always good to hear from you. I’m glad you liked the video, and thank you for sharing your own experiences with genetic testing. That’s great that your children and granddaughter are only carriers but are not affected. Of course being blind isn’t the worst thing in the world, but no one wants their children to struggle like we have. I was so relieved to hear that my children wouldn’t be affected. And yes I believe LCA is being treated with some clinical trials, but not for my specific type. I think it’s great that they are developing treatments, but I’m not sure if it’s something I would ever do. It would have to have an extremely high benefit to risk ratio as I don’t want to risk losing what vision I do have left. It also depends on how invasive the procedure would be as I have a pretty intense phobia of medical procedures
Cayla with a C I totally understand medical phobias and the cost benefit ratio. I am of the opinion that, what visual acuity we retain is so valuable and there would have to be such a guarantee that there would be a huge benefit, well, I agree with you. I believe that we are living in such a wonderful age that, in the future, if any of my descendants manifest my visual condition, there will eventually be a treatment, non-invasive and highly successful. In the meanwhile, blindness has its blessings and I experience them every single day. Great content!
I totally agree! You and I always seem to be very similar❤️
Hi cayla you are the same as me my parents were the carriers. Nobody in my family has it either. I have 2 kids and they have perfect vision. RP seems to be a difficult disease. No I never had genetic testing. I did ask my doctor but was told not to bother. Great video
Hi Michelle! Thank you. I’m glad to hear that your children didn’t inherit it. It seems like a lot of doctors have different perspectives on if they think genetic testing is worthwhile, because similar to yours mine didn’t really think it was worth doing either
This is excellent information. Many doctors continue to order small panels (330 genes or less). With retinitis pigmentosa, time is of the essence. How did you find GeneDX? It would be helpful to find a directory of services around the world along with the sizes of their panels.
If your house is on fire, should you have to wait 6 weeks for the fire department to arrive? It is outrageous for companies having long delays to see a genetic counselor. How helpful was your genetic counselor? I have read the master’s degree course requirements and am not impressed.
For researching medical topics, it is better to use Google Scholar, not only Google.
Hi that was an interesting video I also have LCA I was diagnosed when I was a baby. I have only got peripheral vision which was fairly clear but started to deteriorate in my 20s I also have a condition called keratocotus which is linked in with the LCA which can cause scar tissue on the cornea which gives the impression of Cataracs. Information about LCA online is a bit sketchy and can sometimes be contradictory
Dodge 83 hi! Thanks for sharing. That’s really interesting that you only have peripheral and I had the complete opposite. And I agree, the info I have found online is very sketchy and contradictory
I do recommend anyone with a retinal disease to get genetic testing done. It could change your life. I was diagnosed with RP over 10 years ago and I am currently legally blind. I just had a lot of vision testing done this week to determine if I qualify for gene therapy because of my genetic test results. I have a mutation in my RPE65 gene and that is the only gene that is eligible for treatment at this time. You could say that I am pretty lucky but I always thought I was not. I also just found out that I have LCA... it was pretty shocking and just like you I have almost none of those symptoms either. I am not sure of the specific type i have, but I think maybe they are just using it as a general diagnosis because I have had RP since a child.
That’s really interesting that you were also only recently diagnosed with LCA and don’t have any of those other symptoms. Thanks for sharing your experience
I would love to get testing for Nystagmus. Sometimes it is passed on, however my family refuses to get tested. I worry about one day passing it on to my kids.
You can get tested even if the rest of your family will not. I would encourage you to look into it if it’s something you are interested in doing
I was also shocked about LCA.
hi! cayla! thanks! for sharing,
my son is also suffering the same problem of retinis pigmentosa,
i m giving him the education of yoga (indian (natural whole body exercises including, specially, eyes too)) for fighting against this disease of retinis pigmentosa in a very - very easy and natural way,
this disease will be over according to indian/world yoga guru baba ramdev,
i m also a yoga teacher in my area where i m living in india.
Sky Star hi! That’s really cool. I have been wanting to start trying yoga myself. I’m not sure that it will help with my eyes, but I know it has a lot of other great benefits
if yoga has been learnt in a proper way, it will work, i am sure 200%
we have to be positive and should believe in ourself,
i have been learning yoga since the last 18 years and educating the people since the last 2 years free of cost when i got many many good experiences in my body through this yoga, then, i decided to give all these good benefits to others and now, i have been educating my son also for retinis pigmentosa for the last 4 months since i have knew about his this eye problem.
Hi. It would be very kind of you if you could post some videos teaching step by step those Yoga Methods for Retinitis Pigmentosa. You could help so many people who are living miserably over this planet. Think about it kindly. Thanks a lot in advance.
Agree it's good to have genectic testing done it took me 9mths for results in the UK
Wow that’s a long time, but I’m glad you finally got results
@@CaylawithaC the health system in the UK isn't the best unfortunately.
Hiii Cayla. You are wonderful as usual. I didn't heared.about LCA before so thank you for the information. I'm leagally blind due to RP and i have nystagmus. Also i have exotropia which is the most thing i hate because i don't like my pictures(my lens is.not in the center of the eye).
Hi Randa! Thank you! And I’ve never heard of exotropia, so now you’ve taught me something
@@CaylawithaC hhhhhhhh you are welcome. i think it is a medical term but unfortunatelly i dont know what it is called in everyday language (casual speaking). So i googled it and here it is.
Exotropia is a form of strabismus (eye misalignment) in which one or both of the eyes turn outward.
I have it in my right eye and it is one of the rp symptoms.
Randa Àlamin oh ok. I have that too a little bit in my right eye and I am pretty self-conscious about it
@@CaylawithaC ahaaa so i'm not alone😂
HI CAYLA!!! AS ALWAYS IT IS A PLEASE TO HEAR YOU AND I BET YOU LOOK FABULOUS TOO!!
FUNNY THAT YOU MADE A VIDEO TALKING ABOUT GENETIC TESTINg AS MY EYE DOCTOR RECOMEnDED TO ME TO LOOKI INTO GENE THERAPY. SO THAT IS WHAT I AM WORKING ON RIGHT NOW.
YOUR TESTING WAS VERY INTERESTING AND IT IS AMAZING TO SEE HOW MANY PEOPLE HAVE DIFFERENT TYPES OUT THERE OF RP. SO THANK YOU FOR SHAREING YOUR EXPERIENCE AND ALL!!!
I WILL LET YOU KNOW HOW THINGS GO WITH ME AS THINGS PROGRESS. MY WORRY IS THE INSURANCE SIDE OF IT.
BY THE WAY, HOW IS YOUR HUSBAND AND HOW IS COLLEGE GOING? I BET YOUR DOING AWESOME AND KICKING BUTT!!! LOL!!! TAKE CARE AND WE WIILLL SEE YOU AGAIN IN THE NEXT AWESOME VIDEO YOU COME OUT WITH!!! HUGS WITH LOVE!!!
Hi Steven! Thank you! It’s always good to hear from you. My husband and school are both great. I would love for you to keep me posted on how gene therapy goes for you. I’m guessing that you’ve already done genetic testing and have identified the gene?
@@CaylawithaC NO I HAVE NOT DONE THE GENETIC TESTING YET. I AM HOPING TO WORK WITH THE FLORIDA GATORS COLLEGE THAT HAPPENS TO WORK WITH THE COMPANY THAT IS CALLED FIGHTING SOMETHING. (I CAN'T REMEMBER IT). YOU MENTIONED IT IN YOUR VIDEO. LOL!!!
THE COLLEGE WOULD DO THE GENETIC TESTING, CLINICAL TRIAL GENE THERAPY IF I HAVE THE GENE THEY ARE WORKING ON. IT SEEMS FROM MY RESEARCH, THAT THESE CLINICAL TRIALS ARE LOOKING FOR THE X-GENE. SO IF SOMETHING ELSE SHOWS UP ON MY GENE TEST, I GUESSS I WOULD NOT BE ALBE TO GET THE GENE THERAPY.
BUT FOR SURE I WILL LET YOU KNOW ONE WAY OR ANOTHER!! HUGS.
@@CaylawithaC I WAS WONDERING, HOW DID YOU GET TO DO 999 GEBE TESTING? DOES THE MY RETENA TRACKER GO THAT HIGH? OR DID YOU GO THROUGH A DIFFERENT PROGRAM? THANKS CAYLA. HUGS AND LOVE.
I didn’t go through my retina tracker which is the free genetic testing funded by the foundation fighting blindness. I just went through my local genetics clinic who ordered the 900 gene panel from a lab called Gene DX
@@CaylawithaC THANKS CAYLA. I APRIECIATE IT. HUGS.
Hello mam , my father has rp and I'm from India can you help me out to reach to the perfect doctor for it .
I want to have genetic testing as well, Retinitis also started early on for me, I was already wearing glasses in Kindergarten, I was wondering how your vision is currently? I'm in my 30's I've already had cataract surgery, even Yag on my left eye. Currently it looks like my left eye is getting a little cloudy from the disease and I do need help when going anywhere that's not my house, People's faces are basically a blur now.
Currently I’d say I just have light and shadow perception
Hi We are just fine out my daughter have a rdh12 positive she is only six years old she have the vision problem it’s very kind to advise what to do
I have RP caused for CERKL.
Do you know what are the possible inherited patterns if someone has rp without having rp in the family history?
I’m not sure exactly. I think it’s 25% chance of passing it down if it’s a recessive gene
@@CaylawithaC Thank you, I actually meant if you researched about what the possible ways of how did you get it before doing the test, since you don't have a family history either.
Sorry if I'm bothering you just wanted to ask someone with more experience and you seem really nice.
Thank you.
My mom was just diagnosed with labors predatory optic neuropathy in town shortly after that my vision got severely impaired and they are assuming I have the same dream because it’s past through the mother is that related to you since I heard the word lever in your diagnosis I’m not really too interested in DNA testing just because of all the other things that may come of it more questions more confusion
I think there are a few diagnoses with the word Leber in them, but I don’t think they are related
I'm glad they identified the gene. I was tested in April and had no luck finding a bad gene. Lucky me guess I'm faking lol
Thank you! Oh that stinks. I bet that was frustrating to go through that whole process with no results
@@CaylawithaC yes it was, but they said they have my info if they find something in the future
Well fingers crossed that they eventually find it
@@CaylawithaC thanks. I wish you the best
Do patients in New York state qualify for the genetic testing?
Through the free FFB testing?
I believe so. I think it applies to all 50 states. There is a link in the description box if you want more information about the free testing
Very cute puppy. :-)
Thank you!!
I also have the RDH12 gene.
Oh wow, what a coincidence. Do you mind if I ask how old you are and what your experience has been with your vision loss? If you feel more comfortable having a private conversation, you can message me on Twitter @its_CaylawithaC
I'm 44. I was diagnosed at age 4 with RP. When I received my DNA results and read about LCA I was stunned. My main problem growing up was night vision and low light was hard but I didn't start noticing a big difference in my peripheral vision until I was around 21. I basically have no peripheral vision now. I have two children who have perfect vision Thank God.
Oh that’s really interesting. I was also diagnosed with RP when I was 4. I don’t think I have ever had peripheral vision though. How is your central vision now?
It's not very good. I'm going for an appt at the end of the month
What s your rx
I’m not sure what you mean by that
How strong are your glasses
@@CaylawithaC Hi Cayla I guess he means about prescription. Keep it up great video and easy going .
Hey my name is cayla with a c as well
Hi Cayla! What a coincidence