August 31, 2018 at 2:53 pm #161281LGMD1F
I’m 24 years old, having suffered from an unknown condition since about 2 years old. Symptom wise my arch nemeses are chairs and stairs but otherwise I’m able to keep up with my peers fine.
I was recently diagnosed with LGMD1F and just wondered if anyone else had any experiences with this. I’m currently a final year medical student so the having all this extra knowledge was a blessing when I came to understanding what the doctors were telling me at time of diagnosis.
ThanksPmcgParticipantPosts: 0Joined: 31/08/2018September 1, 2018 at 12:21 pm #161294Reply To: LGMD1F
Hello and welcome Pmcg, I am glad you can join us. I am sure someone will be along soon to help with your questions. I have FHSD thus not the same but clearly many similar symptoms.
I do agree with you that clinical knowledge is really useful. I come from a clinical background myself and it has proved invaluable to help in understanding what is going on with my now ageing body.
You have said that chairs and stairs are your nemesis. It might be useful if you could be more specific about the challenges you face. is it the pain, the weakness, a lack of movement? You are in a great position to monitor changes within yourself, and it might be helpful to use your skills to do that where you can. I wonder if you might specialise in neurology eventually? Wherever you do end up may well be beneficial because knowledge of MD within the clinical communities I have been exposed to, is rare indeed out side of neuro.
I would be interested to hear how you go on with Occy health when you get your jobs.
So many love songs, so little love.embayweatherModeratorPosts: 8Joined: 02/11/2015September 30, 2018 at 12:04 pm #162542Reply To: LGMD1F
I’m Jessica and I’m also affected by LGMD1F and I’m followed by Prof Angelini in Padua (Italy).
Me and my family (all affected by LGMD1F) have founded in 2015 the Association Conquistando Escalones which main scope is to found the research on our disease since it is an ultra rare muscular dystrophy and nobody was studying on “us”.
Could you please send us more information about you? Where do you live? Who is your neurologist?
Have you done a genetic test to diagnose the LGMD1F?
If you prefer you can contact us on email@example.com or visit our website http://www.conquistandoescalones.org
FYI we just come back from a Congress in Venice where all the research groups we are financing have shared the advance of their projects.
Looking forward to hearing from you.
Jessica FurlanJessicaFurlanParticipantPosts: 0Joined: 30/09/2018October 4, 2018 at 12:08 am #162700Reply To: LGMD1F
I’m Peter and I’m from Dundee in Scotland. I’m currently under the care of the team down in Newcastle but I don’t know the specific doctor because I always see someone different depending on who’s available. Yeah I finally got my diagnosis when one of the doctors on the off chance decided to test me for LGMD1F. I’ve had a look at your website before! How was the Congress? Any exciting updates?PmcgParticipantPosts: 0Joined: 31/08/2018October 5, 2018 at 12:48 pm #162774Reply To: LGMD1F
nice to meet you!
Maybe it will sound strange but it is a very good news also for you and all of us that someone else around the world is diagnosed with LGMD1F. These means that an ultra-rare disease is becoming “just” rare.
During the congress we have been reported by the doctors we are financing, that during the next months they will be able to publish some article on our disease and this will be a fundamental part to be able to participate at some European funding. There are many other updates but at the moment we cannot share it publicly until they are published.
Now it is extremely important for you that you tell us more about you, your medical/dna tests results, the Center where you have been diagnosed, the name of some of the doctors so we can contact and try to involve them in our studies and we can update our patients registry. This is the only way we can include you in our future tests and be able to contact you if some blood sample or other is needed, and keep you informed about any progress of course.
Please use our email firstname.lastname@example.org to send these information so it will be much more private.
Do not hesitate to write us any other question.
Looking forward to hearing from you
JessicaJessicaFurlanParticipantPosts: 0Joined: 30/09/2018
You must be logged in to reply to this topic.