My name is Linda and I live in Stockholm Sweden. I wondering if anyone out there suffering from Diabetes insipidus nephrogen type. I have not yet been able to get in connection with anyone else who is suffering from this disease. Thanks for reading, Linda
I seem to have this disease, but I don't know anyone in Belgium who does. And no doctors who treat this
I recently went to my family physician after the HSP diagnosis, and he is recommending a pneumonia vaccination, telling me that HSP is also an autoimmune disorder. All the research I've found says nothing about this, and me not being a doctor didn't question him. I am curious if anyone else has been told this and if anyone else who is younger than 50 has had a pneumonia vaccination.
From 18 January 2017, it is being discussed at the XII Social Affairs Commission of the Chamber of Deputies a bill (Act Room: 136) on "provisions in favor of research on rare diseases and their cure."
As explained in this post is going to erase the Deans, will reduce the powers of the Interregional centers, faculty is everything to a 'network' upon unstructured and according to the discretion of the Regions, are promised gratuity of any kind wi... Read more
I'm living with Myotonic Dystrophy (DM1) and I'm trying to reach out for others worldwide. Although social media such as Facebook and websites of several patients' associations offer great platforms to connect with others, they are always limited to a specific language. This is where I would like to make a change:
Portraits of our life experiences in several languages could help to give us a face on an international level. Such portraits - if the author agrees to it - could also be used for printed media and enhance the public awareness of our existence... Read more
My son has been diagnosed with a mutation in the CHAMP1 gene. We are members of a closed facebook group that has 17 members. I am posting in the hope that new families will see this message.
Seeking children or people who like my son suffer this ultra rare gene mutation pnkp disease, chromosome 19, which causes microcephaly, epilepsy, developmental delay. We live in Spain.
Our teenage daughter died of a GATA2 related illness in 2014 and I'm interested in mobilising peer support for those affected by this condition.
She had myelodysplasia and monosomy 7 and died of idiopathic pneumonia syndrome following a successful bone marrow transplant.
Hi, I'm Tracey.
I'm very new to this as my 4 yr old was only diagnosed with 3p13 deletion a couple of months ago. I wasn't given much information so I have been trying to research everything I can. I have my first meeting with a Gentics councillor next month. I'm just looking for any families that are affected or familiar with 3p13 deletion, any information regarding what it affects and conditions that may arise from it.
My son of 12 years. Recently placed dijagnolza mikrodelecijski 19q13.43 syndrome, facial dysmorphia, intellectual disabilities, possible epilepsy, autism and schizophrenia, ... Pamol IF UIMA someone experiences with the same or similar diagnosis to take the call.
LCAT deficiency is a rare autosomal disease.with only about 60 patients worldwide. Since it's so rare, there hasn't been many research about it. However, there were some experimental research and basically, there is a cure, namely recombinant LCAT enzyme. It works similar to insulin for diabetics, but since it's so rare it's not available commercially.
I'm trying to find more information about this recombinant, and also any information regarding how or where it may be produced.
If anyone knows more about this please let me know. Thank you.
I am being honest with you and I hope no body judges me, I'm 29 male homosexual and after my husband left me this summer I was very depressed and got to know some people who were bad influence and I started to use ( smoke ) methamphetamineand also in this time I had unprotected sex and got diagnosed with hiv in October and I take medication everyday and I have undetectable viral load. 2 month ago I started to notice that I have very bad body oder by reaction of other people in public! It was a shock and stopped my habit for that and I'm sober since 1.5 months . I still have very bad body odor and I also think breath . I can't smell none of them but I see the reaction of other people. I have very very good hygiene and at least take shower once per day by ph5 body wash, I use up to 4 chlorophyll tablets per day and take zink supplement and also I had so far 4 courses of probiotics . I eat yogurt everyday and also kefir . I use ph5,5 deodorant by sebamed and from today I started with vitamin 2 100mg ( riboflavin ) , please help me and tell me what else I can do ?! I have enough reasons in my life to be depressed and out casted by family , friends and more and can't take this situation anymore and I'm about to kill myself ...
is it my hiv medication ( Genvoya ) or is it because of my depression medications ( Wellbutrin 159 and mirtazapine ) that I started to have body odor ? Or did I hurt my liver by taking drugs ?! :( please help me with any idea
( I won't be able to take activated charcoal cause of interaction with my hiv medication )
Published Feb 15, 2017 9:53:10 PM by Unluckyguyde PublicOriginally written in English
Have you heard of Mollaret’s Meningitis? Neither had I until April 2016 when I got the official name of my rare form of viral meningitis originally diagnosed as recurrent viral meningitis. This is a disease we need to know more about, and we need research to get that.
My first hospitalization with viral meningitis was in July 1998. I was in my second day of the Sheriff’s academy in San Bernardino County, California, when I collapsed in class and was rushed to the Emergency Department. They did a lumbar puncture and confirmed viral meningitis. I was hospitalized for two weeks and was never able to go back to the academy. Then in June 2009, I was displaying all of the signs again of viral meningitis (weakness, neck pain/stiffness, couldn’t touch my neck to my chest, body pain everywhere, etc.) and my wife took me to the Emergency Department. While at the Emergency Department, they did a lumbar puncture again and verified viral meningitis once again, but this time also verified the presence of Herpes Simplex Virus in my spinal fluid with a PCR test. I had to administer IV antivirals for two weeks at home.
After seeing a neurologist in 2016 he was able to diagnose me with Traumatic Brain Injury (TBI), and since he has found two other patients with Mollaret’s Meningitis. It was then that I was able to finally find some information about this rare disease I had been dealing with and struggling to find any information on.
Many of the providers I have worked with have verified that there is absolutely the possibility of both the Mollaret’s and TBI causing issues with my brain, but there have been some that say there is no way it can. From my experience I believe it has to, especially since meningitis is the inflammation of the meninges protecting the brain. My Mollaret’s has also changed from recurrent to chronic and I rarely am symptom free.
I hope my story can help others, and help us find someone that is able to help us continue research into this horrible disease.
If you suffer from Mollaret’s Meningitis as well, please check out the new website of the Mollaret's Meningitis Association at www.mollarets.org. We have many resources there to support people with this disease, including a link to our Facebook group where we have over 100 people going through the same thing. Having others to talk with who deal with the same disease has been invaluable.
Published Jan 17, 2017 10:19:54 AM by mhrehor PublicOriginally written in English
November 11, 2016 will be remembered as a major milestone for the rare disease community. On this day a group of determined patient advocates took the United Nations by storm and firmly placed rare diseases on the Global Health and Development Agenda. This milestone is the first on a journey that will make rare diseases a public health priority worldwide.
I was fortunate enough to be there. I witnessed the emotion that filled the room as patient reps from 16 countries told UN officials about the unmet needs of People Living with Rare Diseases in all four corners of the world.
Throughout the day international patient leaders including Abbey Myers, Yann Le Cam, Terkel Andersen, Megan Fookes, Durhane Wong Rieger and John Forman, engaged in meaningful dialogue with high officials from ECOSOC, WHO, UNICEF, UN Women and UNDP.
The Global Gathering for Rare Diseases brought together more than 30 speakers representing important stakeholders from the rare disease community and the United Nations system to place the spotlight on the more than 400 million people around the world who collectively suffer from over 6000 rare diseases.
The event was a unique opportunity to highlight rare diseases and their relevance to the UN Sustainable Development Goals. In his opening speech Anders Olauson said rare diseases affect every aspect of human existence, and by extension touch on each of the 17 SDGs. Consequently, a truly multidisciplinary approach must address health, gender, employment and education. Maria Montefusco of the Council of Nordic Cooperation on Disability did a beautiful job at illustrating how rare diseases ought to be included in social policy as well as health policy.
Alain Weill and Lieven Bauwens, each representing international federations for haemophilia, spina bifida and hydrocephalus, told about the double challenge of tackling rare and neglected diseases in developing countries.
The meeting also marked the launch of the NGO Committee for Rare Diseases, a substantive committee established under the umbrella of the Conference of NGOs with Consultative Relationship to the United Nations (CoNGO).
The Committee which is founded by EURORDIS, Agrenska and Rare Diseases International, will be the main advisory body to the UN in matters relating to rare diseases and will serve to advocate for rare diseases to remain high in the global agenda.
I will bring back with me the words of Nata Menabde, WHO Executive Director to the UN in New York who promised to support future collaboration with the Committee, "If we are serious about leaving nobody behind we cannot leave behind those living with rare diseases”
More information about the Committee on: www.ngocommitteerarediseases.org
View the recording of the event
Published Nov 16, 2016 4:31:49 PM by PalomaEURORDIS PublicOriginally written in English