Leber hereditary optic neuropathy (LHON) Community

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Hey, let's get this RareConnect thing going!

I have just returned from a week in Barcelona where I was helping to deliver the second EUPATI course, having been a student on the same course myself almost exactly a year ago. EUPATI is the European Patients Academy which is part of an EU project to train patient advocates across Europe to improve the quality of research and regulation in healthcare.

I must write more about this but this is not really the forum for detailed discussion on EUPATI, fascinating though it might be. The course did, however, give me an opportunity to drop in to the RareConnect offices and talk through with Rob Pleticha a little about the concept and philosophy of RareConnect.

LHON is a fully international disease - it is found throughout the world and in every ethnicity. Research into its causes, triggers, treatments and cures takes place in the UK, France, Italy, the US and many other countries besides. Much of this work is published in English but much of it does not get widely reported at all. Patients who are not confident in the English language inevitably find it hard to find information in their own language and while most studies are translated into English if they originate in another language, it is not always the case and there may still be a delay.

If only we had a platform where we could all help each other to share information as widely as possible on a worldwide scale and in multiple languages with easy and accurate translation tools. A place where the information we share belongs to us the patients, instead of a faceless (facebook) corporation that has the ability to delete our information whenever they wish.

Well, hey, guess what - if you are reading this post then that means you have found that place. But in order for it to work properly we will have to start using it and bringing our members, friends and family etc into the RareConnect community. I am not pointing fingers, I am more guilty than most as I have a huge amount of knowledge about new developments in research etc that I should be sharing here.

Over the next weeks and months I hope to do just that. But let me not be the only one - let's all have a push to bring people into RareConnect as members and to start sharing with each other. You never know, it may even be fun!

Russel- this is a very enthusiastic message. I am happy to become a member of RareConnect community and looking forward to its continuous development. Indeed, this is a new platform, yet very important for all- patients, policy makers and industry representatives.

I have recently become an entrepreneur in the biotechnology startup and lead the development of therapies for rare, genetic disorders. My interests focus on finding cures for patients who are affected by the diseases that lead to visual impaired and blindness (LCA, LHON).

Since January I have been successfully building and strengthening collaboration between global stakeholders from NIH, FDA, EMA, National Organization for Rare Disorders (NORD), Fighting Blindness Foundations from the EU, Canada and USA, industry and research institutions. The main purpose is to accelerate development of therapeutics that will benefit patients.

I am involved in raising public awareness and education on the use of cutting-edge technologies to develop treatments for those devastating diseases. Let’s continue the conversation and reach out to those who need it most. I am excited to be a part of this fun process!

Thanks for the encouragement and welcome to this fledgling community. I saw that you had registered for our first UK patient day the other week but were unfortunately unable to attend. It would be nice to catch up in person some time but meantime I hope we can get some really valuable conversations going in this forum. It will take a little effort before we really have "Lift-off" but once that happens I think the potential is enormous.

paulamorandi
moderator

Hi everyone, I must admit that I don't quite understand how rare connect works and this might be the general problem as to why so many people aren't using it yet. I wondered if there might be a Rare Connect APP like FB which may be used on a smart phone? this might enforce the use of this really great platform. Thank you!

SandraRC
moderator

For the recently diagnosed

If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself?

formerEURORDISstaff
moderator

LHON blogs

I just found a good about LHON by a woman named Maria. Maria was affected by LHON a couple of years ago, and has quickly become a very visible and important part of the global LHON effort.

Her blog is here: http://www.girlgoneblind.com/

What other LHON blogs do you follow?

A great blog written with humour and warmth and pulling no punches. I met Maria at the US LHON Patient day in Washington last year and she has quickly become a linchpin of the US community and supporter of fundraising for LHON research. The blog outlines some of this work as well as the frustrations but also fun of daily life with vision impairment. LHON is not a club anyone chooses to join, but once you are enrolled you might as well enjoy it as best you can!

lissapoincenot
moderator

http://blindgirlscanrockheels.com by Jessica Loomer is also great fun!

http://visionfora.blogspot.com by Penny Duffy chronicles one mom's journey through LHON with her young daughter.

ASANOL
moderator

Being a mother of a LHON child

Bearer mothers count with a major role in this pathology. They are used to feel guilty about their children's development. Those who have gone through this have much to do helping others. Those who are thinking about having children, have much to hear. Those who are facing their children's debut can rely on the members of this community.

Notice: This text content has been translated automatically by a third-party service.

I am also a bearer of the disease but it hasn't developed yet. I have a 5 year old son and of course I am worried that he could develop it, my cousins, a boy and a girl, have developed it in different levels. When I found out about it I was seeking to have another child, and that supposed quite a shock, actually it was hard for me to accept that if I had another child, it wouldn't be a healthy one, and that has conditioned our decision, we thought about a donation, to chose the gender, to chose a girl because it would have less possibilities of developing the disease, but I thought I will leave her the same situation that I had at that moment, to chose if having children or not because of the fact of transmitting the disease. We thought about egg donation, but for me it was difficult that it wouldn't be mine. And when the matter of London, of the third parent arose, I contacted clinics and researchers to see how the matter would go. Afterwards I spoke to ASANOL and it seems that through them it will be easier, though the thing goes slowly. Now we have appointed ourselves for the United States test, although we first want to speak to the doctors to see what guarantees or conditions they give us. And if not, we will wait for the third parent from London, if it doesn't take too long...
Besides, my son is always asking for a sibling, which not many children do...
For me it was very important, I had a bad time and I had to go to the psychologist, but now I am better. With enthusiasm, illusion and hope that there may also be a cure, for those who have it. I pray that my son wouldn't be one, but in principle I don't blame myself for transmitting the disease, because I didn't know before having my little one!!

I wish you all the luck of the world Laura Martinez,
Life is sometimes hard, and we want the best especially when you are a mother like me.
I have just found out a few weeks ago that I am bearer of Lohn, this mitochondrial disease, I have a 23 years old son with mental retardation and autism and the reason, we recently found out thanks to the advance of science, diagnose trip 12, bad luck from life, in other words the geneticists call it a defective foetus. That when forming there was a failure due to bad luck. Specifically back luck. Then I have a daughter that is divinely talented and until now everything normal, she is 13 and leads a happy life. She is judgemental, studious, artist like what she is fascinated to do is to play guitar and sing in her spare time.
Now, I also carry in my womb for the science a foetus still of 21 weeks and 2 days but for me it is my baby, product of the love that my beloved husband and I feel. It is hard for a mother that doesn't even know that is a bearer, to find out that all your children have the risk of being bearers, at any time they could develop this terrible disease, like a time bomb. Logically I pray God that though we have the bad luck of bearing this disease, we may have the good one of not developing it !!!
The saddest thing is there is no healing nor treatment until now.

I suppose the fears are very common in every country and specially the mothers, there is obviously no one to blame at all but then for the same fact of being a mother with the mitochondrias affected with Lohn, undoubtedly we pass them to all of our children, unfairly but it is what it is.

I have known this disease for nearly already many years, I have a brother that developed it at 20 years old, in the present he is 44, he suffered very much with the blindness until today, with the hope of seeing again.

This is a very difficult matter. Each of us has an idea of what is better or worse, and logically reaching a consensus is imposible.
In my case I started to lose my vision when I was 21 but it wasn't until I was 28 (just married) that they confirmed the LOHN.
To tell the truth I have never been very "nanny" but, immediately, I decided that I didn't want my child to go through what I had... years of uncertainty, thousands of tests, doctors, hospitals, etc.
Of course that a person with a visual disability can be equally or even happier than a person that does not suffer from a disability, in fact I am still working and leading a life as normal as possible with a severe vision loss but just the fact of suffering from migraines, going to hospital every 6 months for the analytic control of the complexes I am taking (Carnitine, Omega 3 e Idebenone), campimetry and other annual tests, "make me remember", not only me but the ones around me, that I suffer from LHON.
Luckily, I am working for a company where I am valued and doesn't hinder my medical appointments (they can't by law, but we know the reality is very different) but... the 2 or 3 days that you are absent from work to go to the hospital or... the day that they dilate your pupils make you "different" to the eyes of everyone else.
Of course I am not going to blame my mother for my pathology (though she wouldn't know) but, from my point of view, and without seeking to be unkind, it seems to me an irresponsible act to decide to have children knowing that you are bearer of a disease. Your independence as human being is cut short, though it may only be to accompany you to your appointment when your pupils are dilated but... that dependence at least for me, is what frustrates me the most.
I would like to ask a question to the women that suffer from low vision, not only to the bearers of the mutation: Would you want your children and descendants (you mustn't forget this is a chain) to be advocated to live well with a sword of Damocles for life, or else with a severe visual limitation? Me, I have decided I wouldn't.

martacampabadal
moderator

LHON's World map

Welcome all the new members of the LHON community. We are growing little by little!

To all the new members, we encourage you to introduce yourselves to the forum and if you want you can also share your testimony in the Understand section.

Don't miss the map of the Members section (only visible to registered members). If you haven't added your location yet, the moment is now! You only have to go to your profile, add city and country.
https://www.rareconnect.org/es/community/a...

With this map it will be easier to contact other patients who live nearby.

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ASANOL
moderator

Terapias de fecundación: "Tres Padres" y otros ensayos similares EE.UU.

En las últimas fechas se están desarrollando varias iniciativas para que las parejas con mujeres portadoras que estén pensando en tener hijos puedan tenerlos sin que estos sean portadores y por tanto posibles futuros afectos.
Estas investigaciones suponen un importante avance para la erradicación de la enfermedad, pero también un dilema ético y un reto técnico importante.

formerEURORDISstaff
moderator

LHON Aids and Supports

I saw this page from LHON Global on useful aids for people living with LHON https://lhon.global/lhon-useful-aids/

It got me thinking, what do you or your family use to support your management of LHON symptoms?

Please share links or stories so that others can learn what is working...