Leber hereditary optic neuropathy (LHON) Community

Meet, discuss & support other patients or families living with Leber hereditary optic neuropathy (LHON). Contribute to topics, or just share what's on your mind.

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ASANOL
moderator

LHON patient advisory committee

Hi. A LHON patient advisory committee is being organized at European level. Different patient organisations are going to participate but we want to know your aspirations. What aspects are you concerned with regarding treatments? Do you think you don't have all the information? Are the doctors in your area well informed?

ASANOL
moderator

Encuentros nacionales

En esta nueva sección propongo que se nos informe de los encuentros nacionales o locales de afectados

lissapoincenot
moderator

LHON Meetings/Conferences

Here's a link where we can post information about upcoming LHON events:
https://www.rareconnect.org/en/community/l...

changes of diagnosis

About 4 months ago my 14 year old son started losing his sight, all doctors thought it was a muscular dystrophy or atrophy of the young. We went to IMO to get genetic testing, however, when they examined him they doubted the diagnosis due to the aggressive deterioration he was experiencing. At that particular moment he could only see 0.2 so they thought it might have been a neurological problem. He soon lost his sight completely, neurologists associated it to Leber's disease. We are waiting genetic results. We all find it really strange as there are no other cases in the family. We are waiting but it's scary not to find a clear diagnosis and so we don't know what to expect.

hola, si ya contacte con ASANOL las pruebas geneticas aun se las hacen mañana, y ahora solo queda esperar resultados.
Saludos¡

lissapoincenot
moderator

Have you gotten the genetic results back yet? If it's LHON, do you know which mutation?

martacampabadal
moderator

Hola mayca,

Como fueron las pruebas? Tenéis los resultados?

Saludos!
Marta

LHON Mothers

Does anyone(mothers) who is a carrier or affected by LHON and have kids who are all not affected yet? If so, how old are they now.

I'm in a dilemma, my partner and I would love to have kids but we are seriously considering whether it is fair to the child knowing that the diseases will be passed on to them.

lissapoincenot
moderator

I'm a carrier, the mother of 3 children. The oldest was affected at age 19 and he is now 27. My daughter is now 24, and my youngest son is 21.

I knew nothing about LHON when my son was affected, so I never confronted the issue you're facing. However, one of my daughter's first questions was, "Mom, does this mean I can't have kids?" I told her we'd need to see how her brother's life went, and if it wasn't a life worth living then maybe not, but if he had a good life then she should proceed. As it turns out, her brother's having a wonderful life, so I expect to have many grandchildren!

We're also doing all we can to support those doing research toward a treatment for LHON. There has been great progress in the 8 years since my son was affected, and we're optimistic that things will continue to get even better. So hopefully by the time my daughter has children, then by the time they're old enough to become affected, there's an effective treatment.

There are already things one can do as a carrier to decrease the risk of onset (avoid all forms of smoke, limit alcohol and certain antibiotics, consider estrogen), and hopefully there will be more progress in that area also that will decrease the risk for future children.

Those are just my thoughts. Genetic counselors are trained to help people work through the issues you're wresting with. This company does phone counseling and knows about LHON, and can be helpful to anyone in the world:
http://informeddna.com/lhon

ASANOL
moderator

Let's improve Rareconnect

Many peers have presented issues or improvements with this platform. Maybe we could try to determine which aspects we should improve, as to let the managers know. ¡Thank you!

The majority of the members of this community are affected by LHON and... they are different. Therefore, I will try to determine some of the problems that they have told me about:
1) According to some of them, the platform is not adapted to their vision, and the software they are using does not read anything.
2) Others tell me that this kind of platforms can't substitute Facebook, where the majority of LHON groups are still alive. The difference is that RareConnect has no app. format. Without an application on the phone, it is uncomfortable to participate.

martacampabadal
moderator

Hola!
Muchas gracias por sus comentarios. Siempre nos gusta leer el feedback de los miembros porque nos ayuda a mejorar la plataforma. Estaremos encantadas de leerlos.

Comentaré el tema de la visión a nuestro equipo técnico para que lo tengan en cuenta ya que estamos haciendo mejoras para lanzarlas a finales de año. Podrías darme más detalles sobre este punto. Es que la letra no es suficientemente oscura?

Sobre el segundo punto. Sabemos que es muy difícil competir con facebook, aunque tampoco es nuestro objetivo. Entendemos que Facebook ofrece immediatez y resulta fácil de utilizar y "todo el mundo está allí". Pero los grupos de Facebook no están diseñados para "guardar" información. Hemos sido testigos de posts y conversaciones de algunos grupos que han sido eliminadas porque eran antiguas, aunque tuvieran decenas de comentarios valiosos.

RareConnect ofrece traducción del contenido a 6 idiomas con un sistema de traducción bajo de demanda. Además confiamos en la tarea de los moderadores para que se aseguren que la información compartida sea veraz y contrastada.

Sabemos que cuesta cambiar las dinámicas de la gente, cuesta moverse de Fb a otra plataforma. Pero más que una alternativa, vemos a RareConnect como un complemento para todos aquellos que buscan más allá de sus fronteras.

Podemos contar con vosotros si necesitamos más información sobre el tema de adaptar la plataforma a afectados de baja visión?

Un saludo y gracias por comentar!
Marta

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!