Category: Health and Wellness
hi,
I am blind due to a vary rare condition called norrie's disease
I have some questions about the disease
if anyone else on the zone has norries i'd appriciate it if they could answer my questions
does having norrie disease garantee that you will have a hearing loss?
i'll be turning 19 in november and apparently my hearing is still in the normal range
does norrie disease have any other symptoms asociated with it other then blindness, hearing loss and cognitive symptoms and if so is there anything that improoves the outcome
and does norrie disease have a chance to benefit from stem cell therapy or gene therapy to cure any of the symptoms
sorry for posting so many questions but there aren't many resources on the internet about this
I have it too. I'll be 32 in December. My hearing has gone quite a bit, to the point that I have no useful hearing with the aids out. I also developed tinnitus around age 21 and haven't found an effective treatment for it. It fucking sucks, because music is my life, and it's getting harder to enjoy. When my hearing gets so bad that I can't listen to music, enjoy movies, TV, radio, social gatherings, etc. then it's bye bye world, I'm gone. There's no guarantee that the same will happen to everyone with this condition, it's so rare that not much is known about it. I'm hoping that cochlear implants keep on improving though.
hi imprecator,
if you get to the point where hearing aids won't help maybe you might be able to try iether stem cell or gene therapy to repair the damaged parts of the ear
this should theoreticly restore normal hearing
Stem cell hasn't gotten that far yet. I've asked my audiologists about it.
hi,
what about gene therapy?
I read some articles about trials for other diseases.
No clue about that. Besides, that would probably cost tons of money that I don't have.
hi,
if gene therapy becomes available, I probably wouldn't have problems with the cost since we have sociallized healthcare
the turkish government completely covers all necesary procedures and medical treatments
I have a friend whom has this disease and is on the zone. I'll tell him to check out this post. He's blind and has got quite a bit of hearing loss and is in his 20's.
Take Care,
Dawnielle
Hi, there. Yes, I do have Norries Disease, too. During high school, I developed a hearing loss, which has progressively become worse as I have aged. Other than blindness and hearing loss, however, I don't think you have anything to worry about. Sometimes, my legs and feet become numb, due to poor circulation, which is an affect of Norries, too. Some people with the disease experience sexual dysfunction, too. Hope this helps.
hi Hardyboy09,
all the circulation problems probably pale in comparason to a sensory impairment. Right now i'm 100% blind. I depend on my hearing 100% to get around and to maintain the link between the outside world and me. If I have those hearing problems, my life will be basicly, over.
I did notice the varicose vanes. However mine might not be entirely related to norrie disease, since there are normal people in my family with almost the exact same patern of vanes. The vanes haven't caused any problems for me yet.
hi,
do you also know if we have a chance of benefiting from any experemental therapy, to remove the possibility of hearing loss or restore vision? If so, I will definitely opt for the treatment.
Go for it if you've got the money. I know I don't.
hi imprecator,
Doesn't the country you live in offer universal healthcare? Turkey has universal healthcare for necesary medical procedures. They also pay for abroad visits for treatment if you cannot be treated in the country. So having money isn't very necesary to get medical treatment.
Hi. I want to ad my 2 cents. I was born with this condition and because I'm female, am getting hit full force. My dad did loads of research and most of my problems are from this disease. I admit this freely to help others. I have bladder control issues, and was involved in an experimental therapy, which is now all over the TV and ads. Hearing loss, balance loss, mental health problems, and I guess, circulation problems. I did not know that came from my condition. Now I know two more things: Why I'm cold, and why my feet feel like ice blocks! I have great long-term memory, but my short-term is terrible.
I'd love to keep on this topic, because I want to know more all the time. My learning problems are with computers, I-devices, and anything Techy. Also, I have to do something several times, to get it right.
hi,
hot wheels, I haven't heard of many females being affected by the condition and from what i've heard the ones who are affected have significantly less severe symptoms it is strange that you had it full force. I also developed varicose vanes which got alot worse in the last 6-12 months. I went to a heart and vasculature doctor who proscribed me compression stockings to press down on the varicose vanes and improve bloodflow. However, I prefer to not wear them since they bother me whereas the varicose vanes don't. I have another question to those of you with norrie disease. Do you experience periods of altered hearing and increased tinnitus and if so do you take steroids for it. I have these in epesodes and finally convinced my doctor to proscribe me steroids so I don't have to go to the doctor each and every time this happens. She proscribed me 48 MG of methylprednisolone and on wensday I had another altered hearing epesode. I waited since it was minor but but it spread to both ears and got annoying so I took the steroids with not much affect so far. Is it that I'm taking a weak steroid. What steroids are used by people with norrie disease?
I get the ringing and some major dizzy spells. I didn't know steroids would help. I try using hearing aides, but get killer migraines, and that makes it hard. Plus, try asking insurance to get the ones best for my problems, and you would have better luck winning the lottery.
Got another question for next post.
God Bless!
Sarah/HW
I didn't know that about the circulation issues, maybe this is what I have. The thing about Nories is that it impacts different people in different ways, thus making me wonder if it's more an umbrella condition for many subsets of conditions that involve some of these symptoms. But because they're so rare, it's easier to categorically just throw that diagnosis at someone. I don't know that I have Nories, and I'm not sure I'll ever know, but having a label for it will not change anything functionally speaking. As for deciding to check out because you lose all of your hearing, that's totally your call, no one can make that decision for you. Parts of Europe will allow assisted suicide for such situations, but you have to undergo a huge battery of tests to qualify for it. that said, you can either just give up because you're losing yoru hearing, or you can try to learn to live without it. Yeah, it really sucks a bag full of dicks, I know very well, but technology and alternative methods of getting around do exist. There's also tactual finger spelling, sign language, and many other options. So your life doesn't have to be over if you don't want it to be, though if it is, I can totally respect your decision. It's you're life and you're circumstances, it's not for me to judge. Every time I overcome something that has to do with my dual disability, I consider it a hearty fuck you to whatever bullshit nature through at me and all the people who told me I couldn't do whatever it is I now am. I also love music, very much, and miss doing the performance based DJing I used to, but it's a chapter in my life that is now closed. Oh well, on to the next episode I guess. My point with all these ramblings is that one can sit at home and do nothing about their situation, or they can get out there and make something out of what you may currently perceive as nothing. Is it easy? Hell no. But nothing that falls in to your lap and gets handed to you is easy. You have not experienced life itself until you have had to fight for yourself and overcome something.
TO add to my previous post, and to put this back on the original topic, stem cell research on restoration of hearing is still in its infancy according to the stuff I've read. Whether this will apply to the specific type of hearing loss associated with Norries remains to be seen. I know that there is some work being done in Switzerland and that some of the Nordik countries in Europe are also working toward something like this. SO hang in there, you may get that hearing back just yet.
Coclear implants are another option, though if you go this route, you will need to essentially retrain yourself to hear properly. I've not gone down this road myself, but my understanding from talking to surgeons and audiologists is that if you have had decent hearing in the past, you have a greater chance of success with this procedure. I hope this info is helpful, and I do realize my post above may seem a bit harsh, but it was the only way I could pull myself out of my situation, and I wish someone had been around to tell me some of the stuff I wrote above.
Scott, I so agree with you. I can't count the pity parties I've held. But, life happens, and I accept it. If I go totally deaf, it is a lot less frustrating than the last year has been. At least with deafness, you have guaranteed support.
God Bless!
Sarah/HW
hi scot,
When I said if I have hearing problems that prevent me from functioning that my life would be over, I did not mean that in the physical sense. I meant that everything that gave my life meaning would be gone. Due to my religious beliefs, I would never contemplate euthanasia. On hearing keep in mind that nothing has happened yet according to tests. And I've heard that in the united states a gene therapy is under development to ultimately stop or reverse hearing damage associated with norrie disease. And apparently the hearing health foundation has embarked on an ambitious project to restore hearing biologicly (the hearing restoration project). So probably these should be out in 10-20 years. And don't forget that if a biological treatment for the blindness becomes available that will automaticly reduce the amount of dependance of hearing and provide a sense to connect with the outside world
, which will reduce the impact of a possible hearing problem.
This is unrelated, but I recently found out I'm also at risk for MS. Wonderful.
Is that from our disease? This is mjor serious. I've had muscle pain that hurts like h... Please let me know?
Not sure. I just know my aunt had both conditions.
Well, I wonder how you get tested for MS, because that does concern me. I've had terrible balance, and leg and back and arm and shoulder and neck pain. Even in my feet. So, I want to find out. I'll let you know, for the sake of just knowing.
You know with something like this, it's weird, because, they can't really tell us what to expect. With mine, it's because my mutation hasn't ever been seen before. Like something totally new. So it's like I have this, but know that there's no way to determine what will happen. And, all these things start falling apart on me.
That's all I know now.
God Bless!
Sarah/HW