Comments for Rare Disease Blogs http://www.rarediseaseblogs.net International opinion on Rare Diseases & Orphan Drugs Thu, 01 Jul 2010 22:28:37 +0200 http://wordpress.org/?v=2.8.4 hourly 1 Comment on Information to Patients Debate 2010 – as if the Internet was still a walled garden by Cheryl Rick Klein http://www.rarediseaseblogs.net/2010/04/21/information-to-patients-debate-2010-as-if-the-internet-was-still-a-walled-garden/comment-page-1/#comment-164 Cheryl Rick Klein Thu, 01 Jul 2010 22:28:37 +0000 http://www.rarediseaseblogs.net/?p=438#comment-164 I wanted to share writing comments on this blog has helped me motivate myself to expand my advocacy. Patients like me and or their loved ones all need to share their rare disease stories. It takes courage and strength to "share" personal details about illnesses. It is the "MOST" effective way to help public awareness, research, and funding. Once a few patients begin to share pertinent information including physical and emotional effects of living with a particular rare disease and advocate for themselves we will see results in all areas. I have Parry Romberg Syndrome, I am not ashamed of admitting it. Nobody should. I am scared that my illness is still so unknown and I had two seizures last week that I never experienced before. What is going to happen to me next????? Nobody knows. I will keep writing and I started to contact government officials in my state, NY. The conferences should have patient representatives who are dedicated to the cause and serious. Thank you once again, Cheryl Rick Klein I wanted to share writing comments on this blog has helped me motivate myself to expand my advocacy. Patients like me and or their loved ones all need to share their rare disease stories.
It takes courage and strength to “share” personal details about illnesses. It is the “MOST” effective way to help public awareness, research, and funding.
Once a few patients begin to share pertinent information including physical and emotional effects of living with a particular rare disease and advocate for themselves we will see results in all areas.
I have Parry Romberg Syndrome, I am not ashamed of admitting it. Nobody should.
I am scared that my illness is still so unknown and I had two seizures last week that I never experienced before.
What is going to happen to me next????? Nobody knows. I will keep writing and I started to contact government officials in my state, NY.
The conferences should have patient representatives who are dedicated to the cause and serious.
Thank you once again,
Cheryl Rick Klein

]]> Comment on People living with rare diseases ask for plans, or national strategies, in 25 European countries. by Celia http://www.rarediseaseblogs.net/2009/11/08/people-living-with-rare-diseases-ask-for-plans-or-national-strategies-in-25-european-countries/comment-page-1/#comment-163 Celia Thu, 24 Jun 2010 23:32:53 +0000 http://www.rarediseaseblogs.net/?p=422#comment-163 I really would like to connect with someone that has Cowdens disease. I can not find any support groups out there. I am 32 years old, diagnosed with both Thyroid and Breast Cancer in the same year. I also have a menegioma in the brain. There is no family history, and Im just shocked. I would love to hear from others that have been diagnosed with this syndrome. I will be giving blood work here soon to find out if that will explain everything. I really would like to connect with someone that has Cowdens disease. I can not find any support groups out there. I am 32 years old, diagnosed with both Thyroid and Breast Cancer in the same year. I also have a menegioma in the brain. There is no family history, and Im just shocked. I would love to hear from others that have been diagnosed with this syndrome. I will be giving blood work here soon to find out if that will explain everything.

]]> Comment on NORD Applauds SSA for Expanding “Compassionate Allowances” by Cheryl Rick Klein http://www.rarediseaseblogs.net/2010/02/11/nord-applauds-ssa-for-expanding-compassionate-allowances/comment-page-1/#comment-162 Cheryl Rick Klein Wed, 23 Jun 2010 23:51:57 +0000 http://www.rarediseaseblogs.net/?p=435#comment-162 I have been approved for SSD after seven months of interviews, two medical exams and numerous questions about my inability to work from my case worker in Washington D.C. I was told my case was still pending and still had to be evaluated in Texas by the department of quality control. I never knew how difficult and stressful this claim would be. I had to provide photos of myself before I had any reconstructive surgery. I threw out most of those scary photos in my teens. However I had my original dermatologist who filled in my face with silicone injections every month from the age of 13-19 years old. I was a "Test case" for a "famous" dermatologist and would consider my case if I agreed tp have photos taken at each visit to be documented and published in medical journals since I was still not diagnosed. His final decision to take on such a young patient " he to be a beautiful girl when he examined the left side of my face which was not affected. Then I remember his humilating comment meant ONLY for my mother to hear but I heard it and never forgot every word. " The main reason I will do this is because I see she has potential beauty based on examing the other side of my face that was PRS free otherwise I would tell you to take her home and not waste your money" I was finally diagnosed when I was 35 years old. Parry Romberg became a classified rare disease in the year 2000. Getting approved for this claim took a lot of work and emotional stress. I basically had to advocate for myself by myself. It was a small victory for me and hopefully other patients who are applying for SSD claims with PRS or a similar rare disease will have a easier time because at least a few doctors know now what Parry Romberg Syndrome is. Cheryl Rick Klein I have been approved for SSD after seven months of interviews, two medical exams and numerous questions about my inability to work from my case worker in Washington D.C. I was told my case was still pending and still had to be evaluated in Texas by the department of quality control. I never knew how difficult and stressful this claim would be.
I had to provide photos of myself before I had any reconstructive surgery. I threw out most of those scary photos in my teens. However I had my original dermatologist who filled in my face with silicone injections every month from the age of 13-19 years old.
I was a “Test case” for a “famous” dermatologist and would consider my case if I agreed tp have photos taken at each visit to be documented and published in medical journals since I was still not diagnosed. His final decision to take on such a young patient ” he to be a beautiful girl when he examined the left side of my face which was not affected. Then I remember his humilating comment meant ONLY for my mother to hear but I heard it and never forgot every word.
” The main reason I will do this is because I see she has potential beauty based on examing the other side of my face that was PRS free otherwise I would tell you to take her home and not waste your money”
I was finally diagnosed when I was 35 years old. Parry Romberg became a classified rare disease in the year 2000.
Getting approved for this claim took a lot of work and emotional stress. I basically had to advocate for myself by myself.
It was a small victory for me and hopefully other patients who are applying for SSD claims with PRS or a similar rare disease will have a easier time because at least a few doctors know now what Parry Romberg Syndrome is.
Cheryl Rick Klein

]]> Comment on Information to Patients Debate 2010 – as if the Internet was still a walled garden by Laura Billing http://www.rarediseaseblogs.net/2010/04/21/information-to-patients-debate-2010-as-if-the-internet-was-still-a-walled-garden/comment-page-1/#comment-161 Laura Billing Tue, 01 Jun 2010 13:16:15 +0000 http://www.rarediseaseblogs.net/?p=438#comment-161 What an excellent summary by Jan Geissler; it most definately outlines the situation for my family and those I try to support in a Voluntary capacity. As 2 of my 3 offspring have the genetic, neurological long-term disability 'Neurofibromatosis Type 1' I have had to manage the wide ranging and serious/devastating effects of their Nf...major differences between them as well as similarities. Finding out information was impossible in 1984...improved in 1989 when Gorbachov released medical professionals to guinea pig my daughter for the first leg lengthening op in the West as she has an additional rare orthopaedic form of Nf1 called pseudarthrosis...but still Nf & it's effects are not well known or written about. I have a pile of medical abstracts about the specific learning disability associated with Nf1 which I had to use for my son's Statutory Assessment of Special Educational Needs as there was no usable parent friendly alternative in 2003. The test results for Nf1 rarely meet profiles of other conditions, in educational terms for example Dyslexia is now recognised & has specific management strategies; we often do not get the targetted specialist support required. My son has an additonal diagnosis of High Functioning Autism or Asperger's Syndrome but he is classic to the many other children & adults I have met with Nf.The link between Autism and Nf was highlighted years ago by Tony Attwood but this fact has not been brought to most families' attention; this is key to the day to day care of kids & adults with Nf. Your article refers to cancer and there are strong links with Nf1 in cancer research. The last Nf Association UK meeting I went to (in Birmingham, UK) was very technical led by an American researcher doing mouse trials on tumour triggers. Nf1 is often classed (incorrectly) as a skin disorder because part of the diagnostic criteria include the presence of fibromas (or gristle bumps) and plexiforms (larger squishier lumps) both generally benign (...but not always...), as well as the highly visible 'Cafe au lait' marks. As you say by the time the medical complication arrives both the person affected & the Carer is in the worst state of mind to then try & find out the best or alternative treatments available. I have remote experience of the voracious nature of the malignant tumours and cancers which form part of Neurofibromatosis; a friend's son had a malignant brain tumour particular to Nf1 and also another parent had a son with malignant bone tumour on his femur...he died before it was properly investigated! As with any malignant tumour, time is very very short once the growths have been identified....that is often hard to do as Nf tumours need a particular type of imaging to show up properly...any delay can be terminal! As a Mother/ Carer I can only do so much; as the Voluntary Organiser of an Nf Local family Support Group (un funded) I can do a little more (time & my own health allowing); so on behalf of the many people affected can I say "Thank you, Jan Griessler" for keeping patient friendly access to information on the agenda, in EU terms. best wishes, Laura billing What an excellent summary by Jan Geissler; it most definately outlines the situation for my family and those I try to support in a Voluntary capacity. As 2 of my 3 offspring have the genetic, neurological long-term disability ‘Neurofibromatosis Type 1′ I have had to manage the wide ranging and serious/devastating effects of their Nf…major differences between them as well as similarities.
Finding out information was impossible in 1984…improved in 1989 when Gorbachov released medical professionals to guinea pig my daughter for the first leg lengthening op in the West as she has an additional rare orthopaedic form of Nf1 called pseudarthrosis…but still Nf & it’s effects are not well known or written about. I have a pile of medical abstracts about the specific learning disability associated with Nf1 which I had to use for my son’s Statutory Assessment of Special Educational Needs as there was no usable parent friendly alternative in 2003. The test results for Nf1 rarely meet profiles of other conditions, in educational terms for example Dyslexia is now recognised & has specific management strategies; we often do not get the targetted specialist support required.
My son has an additonal diagnosis of High Functioning Autism or Asperger’s Syndrome but he is classic to the many other children & adults I have met with Nf.The link between Autism and Nf was highlighted years ago by Tony Attwood but this fact has not been brought to most families’ attention; this is key to the day to day care of kids & adults with Nf.
Your article refers to cancer and there are strong links with Nf1 in cancer research. The last Nf Association UK meeting I went to (in Birmingham, UK) was very technical led by an American researcher doing mouse trials on tumour triggers. Nf1 is often classed (incorrectly) as a skin disorder because part of the diagnostic criteria include the presence of fibromas (or gristle bumps) and plexiforms (larger squishier lumps) both generally benign (…but not always…), as well as the highly visible ‘Cafe au lait’ marks.
As you say by the time the medical complication arrives both the person affected & the Carer is in the worst state of mind to then try & find out the best or alternative treatments available. I have remote experience of the voracious nature of the malignant tumours and cancers which form part of Neurofibromatosis; a friend’s son had a malignant brain tumour particular to Nf1 and also another parent had a son with malignant bone tumour on his femur…he died before it was properly investigated! As with any malignant tumour, time is very very short once the growths have been identified….that is often hard to do as Nf tumours need a particular type of imaging to show up properly…any delay can be terminal!
As a Mother/ Carer I can only do so much; as the Voluntary Organiser of an Nf Local family Support Group (un funded) I can do a little more (time & my own health allowing); so on behalf of the many people affected can I say “Thank you, Jan Griessler” for keeping patient friendly access to information on the agenda, in EU terms.
best wishes,
Laura billing

]]> Comment on Information to Patients Debate 2010 – as if the Internet was still a walled garden by Alexandra Wyke http://www.rarediseaseblogs.net/2010/04/21/information-to-patients-debate-2010-as-if-the-internet-was-still-a-walled-garden/comment-page-1/#comment-147 Alexandra Wyke Wed, 12 May 2010 09:20:35 +0000 http://www.rarediseaseblogs.net/?p=438#comment-147 Patient information should be an inalienable right, particularly as patients are being asked to shoulder a greater burden of the cost of their care. However, rights to information are just one of many other rights patients should be afforded. Last week Active Citizenship Network relaunched its campaign on patients’ rights at the European Parliament in Brussels. Three senior MEPs submitted a written declaration to make April 18 European Patient Rights Day and 375 signatures are needed by July. So the opportunity to get patient information as a right might be getting closer. Patient information should be an inalienable right, particularly as patients are being asked to shoulder a greater burden of the cost of their care. However, rights to information are just one of many other rights patients should be afforded. Last week Active Citizenship Network relaunched its campaign on patients’ rights at the European Parliament in Brussels. Three senior MEPs submitted a written declaration to make April 18 European Patient Rights Day and 375 signatures are needed by July. So the opportunity to get patient information as a right might be getting closer.

]]> Comment on Information to Patients Debate 2010 – as if the Internet was still a walled garden by Marre http://www.rarediseaseblogs.net/2010/04/21/information-to-patients-debate-2010-as-if-the-internet-was-still-a-walled-garden/comment-page-1/#comment-137 Marre Tue, 04 May 2010 16:20:18 +0000 http://www.rarediseaseblogs.net/?p=438#comment-137 The problem may be that individual memberstates (and possiblky pharma industry) can have very different guidelines for treatment of certain conditions with the sme product? I refer to products such as hydroxocobalamin being perscribed for Pernicious Anaemia. In some EU Countries the standard treatment guidelines would be once a month IM injection whilst other EU memberstates recommend the same product to be used only once every 3 months. In some EU memberstates hydroxocobalamin is available over the counter at any pharmacy whilst in other EU countries the same product requires a perscription. This irregularety does not help patients. The problem may be that individual memberstates (and possiblky pharma industry) can have very different guidelines for treatment of certain conditions with the sme product? I refer to products such as hydroxocobalamin being perscribed for Pernicious Anaemia. In some EU Countries the standard treatment guidelines would be once a month IM injection whilst other EU memberstates recommend the same product to be used only once every 3 months. In some EU memberstates hydroxocobalamin is available over the counter at any pharmacy whilst in other EU countries the same product requires a perscription. This irregularety does not help patients.

]]> Comment on The Commission’s Decision to create the EU Committee of Experts on Rare Diseases should be published between Mid and End November 2009. by simone http://www.rarediseaseblogs.net/2009/11/09/eu-committee-of-experts-on-rare-diseases/comment-page-1/#comment-136 simone Tue, 04 May 2010 16:04:28 +0000 http://www.rarediseaseblogs.net/?p=424#comment-136 write your comment here... escreva o seu comentário aqui ... Elizabeth ,tambem sou do Brasil e gostaria muito de manter contato com vc ,tenho um filho com Homocistinuria .Meu email e:simonearede@gmail.com write your comment here… escreva o seu comentário aqui …

Elizabeth ,tambem sou do Brasil e gostaria muito de manter contato com vc ,tenho um filho com Homocistinuria .Meu email e:simonearede@gmail.com

]]> Comment on People living with rare diseases ask for plans, or national strategies, in 25 European countries. by Ieva Zagante http://www.rarediseaseblogs.net/2009/11/08/people-living-with-rare-diseases-ask-for-plans-or-national-strategies-in-25-european-countries/comment-page-1/#comment-135 Ieva Zagante Tue, 04 May 2010 15:11:34 +0000 http://www.rarediseaseblogs.net/?p=422#comment-135 I have genetically confirmed Cowden syndrome and the main problem is inability of our (I live in Latvia) healthcare bureaucrats to admit, that these are needs of patient that matters. And I am regularly asked: “Why should you be treated differently from others?” Well because I am not a common case, most of the doctors have never heard about such disease and of course they do not know how to deal with even the most common problems. Should they wait or operate this immediately? Should they use old (and cheaper method) or something more advanced? Should they make this (whatever) expensive test despite the fact that it is not and will never be included in the general screening program? Should they do gastroscopy just because patient is complaining of frequent acid reflux?- these are just a few questions I have encountered…. But there is one thing that worries me very much – the so called 1st degree relatives- they have already come to conclusion that it is not use to go to the doctors, any doctors, since they do not care about patients, but even if they did- nobody knows that they are related to me and most likely they will never be examined carefully enough, to exclude any tumors….Especially my junior sisters and two cousins, who much younger than the age generally associated with serious diseases. I have genetically confirmed Cowden syndrome and the main problem is inability of our (I live in Latvia) healthcare bureaucrats to admit, that these are needs of patient that matters. And I am regularly asked: “Why should you be treated differently from others?” Well because I am not a common case, most of the doctors have never heard about such disease and of course they do not know how to deal with even the most common problems. Should they wait or operate this immediately? Should they use old (and cheaper method) or something more advanced? Should they make this (whatever) expensive test despite the fact that it is not and will never be included in the general screening program? Should they do gastroscopy just because patient is complaining of frequent acid reflux?- these are just a few questions I have encountered….
But there is one thing that worries me very much – the so called 1st degree relatives- they have already come to conclusion that it is not use to go to the doctors, any doctors, since they do not care about patients, but even if they did- nobody knows that they are related to me and most likely they will never be examined carefully enough, to exclude any tumors….Especially my junior sisters and two cousins, who much younger than the age generally associated with serious diseases.

]]> Comment on Information to Patients Debate 2010 – as if the Internet was still a walled garden by Cheryl Rick Klein http://www.rarediseaseblogs.net/2010/04/21/information-to-patients-debate-2010-as-if-the-internet-was-still-a-walled-garden/comment-page-1/#comment-128 Cheryl Rick Klein Sun, 02 May 2010 06:34:55 +0000 http://www.rarediseaseblogs.net/?p=438#comment-128 I have been reading notes and comments about the last few Rare Disease Conferences since the start of 2010. I have mixed feelings about exactly what is the objective of these costly conferences. Yes, ther is a lamguage problem and it is time consuming to even communicate and understand what the patient representitives are trying to express. I am sure many valuable insights are lost in translation. The United Nations has one main headquarter and every language is translated and time and money is not wasted. Maybe a similar type modeled after thr UN could be effective and more goals could be reached. I also think many patients who are willing to share personal emotional information about their rare disease experiences and are willing to publically speak would be very effective to gaining sponser support and media attention. I am rare but I want to carry out what my parent's started and I am willing to do anything in my power to help. I only wonder why I am not invited or sponsered to any of these conferences. Maybe letting new voices like mine and I speak for others who are private concerned rare disease patients as well should be given the chance to make a difference and inspire other patients like me to gain the respect of the medical community and the feneral public. I have been reading notes and comments about the last few Rare Disease Conferences since the start of 2010. I have mixed feelings about exactly what is the objective of these costly conferences.
Yes, ther is a lamguage problem and it is time consuming to even communicate and understand what the patient representitives are trying to express. I am sure many valuable insights are lost in translation.
The United Nations has one main headquarter and every language is translated and time and money is not wasted.
Maybe a similar type modeled after thr UN could be effective and more goals could be reached.
I also think many patients who are willing to share personal emotional information about their rare disease experiences and are willing to publically speak would be very effective to gaining sponser support and media attention.
I am rare but I want to carry out what my parent’s started and I am willing to do anything in my power to help. I only wonder why I am not invited or sponsered to any of these conferences. Maybe letting new voices like mine and I speak for others who are private concerned rare disease patients as well should be given the chance to make a difference and inspire other patients like me to gain the respect of the medical community and the feneral public.

]]> Comment on Information to Patients Debate 2010 – as if the Internet was still a walled garden by Daniel Ghinn http://www.rarediseaseblogs.net/2010/04/21/information-to-patients-debate-2010-as-if-the-internet-was-still-a-walled-garden/comment-page-1/#comment-117 Daniel Ghinn Mon, 26 Apr 2010 09:34:46 +0000 http://www.rarediseaseblogs.net/?p=438#comment-117 Thank you Jan for continuing to raise this issue. You've highlighted some really important points about patients and the international nature of the Internet, and also about the challenge of language barriers for those not lucky enough to speak English. I believe that in the EU we do have the opportunity to solve some of these challenges and come up with a consistent approach on information to patients in this connected 'Internet nation'. Thank you Jan for continuing to raise this issue. You’ve highlighted some really important points about patients and the international nature of the Internet, and also about the challenge of language barriers for those not lucky enough to speak English.

I believe that in the EU we do have the opportunity to solve some of these challenges and come up with a consistent approach on information to patients in this connected ‘Internet nation’.

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