Update from Washington DC Rare Disease Day 2014

It is with great joy to announce that today Dr. Collins, NIH Director was presented our petition on behalf of Fibromuscular Dysplasia, Ehlers-Danlos Syndrome, Marfans and Sticklers. The petition was hand delivered in Washington DC by Sarah Kucharski, Patient and Founder of FMD Chat, and Fran Richmond Saplis, Patient and Advisor to FMDChat. I was told that Dr. Collins was impressed by the amount of signatures and the organization of the petition. He also stated that we have been making noise... good noise! So Thank you to each of you who signed, shared and made this possible. This accomplishment alone has raised awareness and brought attention to those who struggle daily with rare connective tissue diseases. Please share the news! 
Gentle Hugs,♥ Kari Ulrich

Rare Disease 2014 Patients Honor Dr. Nazli McDonnell

It is not to late to sign and share the petition! CLICK HERE

In honor of Dr. Nazli McDonnell,

 In memory of Grace Marie Berardini (1963 - 2009)
and to those who have lost their lives prematurely.

Dr. Nazli McDonnell and Grace Marie Berardini (1963 - 2009)

Our guest blogger today is Cathy Bowen, Founder of EDSToday.org. Cathy is an outstanding voice and leader in the EDS community.  Cathy along with several other Ehlers-Danlos Syndrome advocates & patients has put into words how Dr. McDonnell has touched their lives. 


Dr. Nazli McDonnell

“Dr. Naz has always put her patients first even before herself or her own health. Their care and wellbeing is her top priority. She has also continued to be involved with the care and treatment outside of the study and even helping numerous individuals from around the world. Many within the Ehlers-Danlos Syndrome community have come to depend on her to be their medical advocate/support in times of medical crisis. She has consulted with many physicians to educate them on the appropriate care and treatment of all those with these rare disorders/diseases. It doesn’t matter if it’s day or night; she has always been available to anyone in need even giving them her personal phone numbers. Through this interaction she has been able successful in saving many lives. Dr. Naz has truly been a lifeline for not only ALL of her patients, but also for anyone who has one of these rare disorders/diseases. To ALL of them, Dr. Nazli McDonnell is a “diamond in the rough”…a unique gem that is truly valued, appreciated and so very loved. I don’t think NIA/NIH realizes the caliber of the person and doctor that they lost in Dr. McDonnell.
We truly wish that we were financially able to support her in her own Connective Tissue Research Laboratory. She has a wealth of experience and vast knowledge that will help her to still make a difference. In a perfect world our HOPE would be to have a cloned Dr. Nazli McDonnell in every single hospital in the world.”- Cathy Bowen, Linda Lenz, Diane Specht and Randi Semanoff ~ EDS Today~ADVOCATES 

Dr. Nazli McDonnell and Linda Lenz

“She is a true professional who practices medicine for all the right reasons.”- Melva Buck

“Dr. Nazli is a true gem for all of the connective tissue disorder sufferers. Please reinstate the study and keep Dr. McDonnell working on the research to help all of us!” 
- Bonnie Heintskill

“I LOVE her!” - Jenae Nixon

“She is an angel!!!” - Karen King

“Please reinstate the study and keep Dr McDonnell! I have FMD With connective tissue features and she was my hope to many unanswered questions for many of us. She’s the best!” - Jill Garibian Jacques

“Dr Naz has also helped my family. She is truly an amazing doctor!” 
- Marie Nenno Redmond

“Dr. NAz really touched my life AND EDUCATED many of my doctors on several occasions. She has been a true fighter for the research of EDS and FMD. It’s one thing to get paid to do research but Dr NAz really cared about each and every one of us. Thank you Naz! You are an angel and our prayers go out to you!” - Bethany Griffith

“Dr Nazli has provided advice, support, and hope for my son. He was recently diagnosed with vascular Ehlers-Danlos Syndrome (vEDS) and we felt so lost. Because it is such a rare disorder, you begin to feel like no one cares. No one cares to learn about my disorder, no one cares to donate money to fund research, no one cares to help, but Dr. Nazli cares. She has touched so many and makes herself available to all the patients, including ones she has never met. She is the Guardian Angel of the vEDS community and she deserves to be held in high regard by her peers for her outstanding care and desire to help others.”
- Deborah R.

I first came to meet Dr. Nazli through an email contact that a fellow zebra had posted online. I had just been given the terrible news from my local consultant that my genetic test was positive for Vascular Ehlers Danlos Syndrome, my daughter age 6 was also suspected to have inherited the condition. I was desperate, confused and left waiting by my local health care providers. Although I live in the UK, Nazli provided support, advice and best of all reassurance that there was progress being made into the research of this and other connective tissue disorders. I was comforted to finally find someone with this wealth of knowledge and experience; I cannot begin to explain how important her involvement with our care has been. My daughter and I were enrolled onto the NIA research study and through this Nazli had access to my genetic results and notes. Through Skype contact and phone calls Nazli has kindly made herself available to answer questions and provide important advice. I have not met any other Doctor as truly amazing as Dr Nazli McDonnell, without her kindness and genuine care for her patients I really don't know how I would have coped. She has undoubtedly touched and saved the lives of so many. - Leanne Bell

Dr. Naz is an amazing and caring doctor and has become a true friend. She was so supportive to my son Zak I don't know what Zak or I would have done without her. She is one in a million. EDS is such a devastating disease, and the knowledge and experience that Dr. McDonnell brings to the table is invaluable.- Laura Kleiner

I have had the honor of being in Dr. Nazli McDonnell study and visited her twice at NIA/NiH in Baltimore. She has worked so hard to help us and it saddens me to receive a letter that this study will end. I have FMD with connective tissue features and there has never been another doctor who undertsands me and my conditions and is researching to find answers such as her. She was so close and has years of data. Please don’t let it all go to waste. She is our HOPE for many unanswered questions on some very serious diseases and for the futures of many children affected. - Jill Jacques

My daughter who is 9 has veds we meet Dr Naz when my daughter was 3 years. Dr Naz has always been available to help with my daughter’s care. Any time there is an emergency she's always available to help out even if she's not physical present. She is truly an amazing person. I always felt such a relief knowing she was always there for us. 
- Melissa Rosales

My daughter, Vairon, has VED. Dr. McDonnell has been following her for many years. Anytime Vairon would have a medical problem she was able to contact Dr. McDonnell and she would advise her. Last year Vairon had surgery at Johns Hopkins Hospital and Dr. Nazli was in the OR with her throughout the surgery. She was very supportive and comforting to Vairon and myself during that difficult period. She is Vairon's Guardian Angel. She has compassion for her patients and has made herself available to them. She understands their struggles and devoted herself to their cause. I only hope and pray that we have not lost her. - Candice Templin 

“It's such an injustice losing Dr. Naz that it truly makes me sick to my stomach. NIH/NIA has no idea what they've lost. Dr. McDonnell is just as important to all of us, as that study is. In my 17 years advocating for those with EDS, I've seen her in action, she is the ONLY doctor willing to step up to the plate and bat for all her patients no matter if they are her patients or not. There is a second reason why to my wish that I could clone her and put her in every hospital in the world. The first is for the benefit and safety of all EDS/CTD/ALL patients. The second: is for me. Dr. McDonnell has restored my faith and trust in a physician. My fear for the last 17 years hasn't been if I ever got a disease or not, it has been if I would be able to find a doctor that I could ever trust enough or have enough faith in, to be able to put my life into their hands. Knowing everything I do about Dr. McDonnell, she is someone that I could trust with my life. She is that doctor that I wished my son David could have been able to have. Even if the outcome turned out to be the same, as least he would had the best doctor treating him, that's all any of us want…a chance!!! Dr. Nazli McDonnell you have my utmost respect and admiration." -Cathy Bowen ~ EDS Today ~ ADVOCATES

“Dr. Nazli McDonnell has personally helped my family, we are so grateful to her.” - Julie Hemmerich-Buster

“Dr. Naz has helped me more than I can say. I know I’m here today because of HER, she is awesome!!!” - Patti Melcher

“She is a LIFESAVER! I love her.” -Jenae Nixon

“Dr. Naz has saved my families and my life more than once. She has actually spoken on speakerphone from my cell phone to the doctors at Cleveland Clinic in the ICU trying to help with my mother’s care. This was after they had discharged her and then she was readmitted in her second helicopter ride there within five days. Yes, Dr. Naz fights for us no matter who she is talking to, she let us call her on her personal cell phone for help any time of the day or night.” - Susan Rosenow Ginley

Dr. Nazli McDonnell "Our Hero"

Patients Advocate for Rare Disease Research in Washington D.C. for Rare Disease Week

Dear Dr. Francis S. Collins,

With this petition of over 10,000 signatures we are asking the National Institutes of Health to restore NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” and allow Dr. Nazli McDonnell and her fellow researchers access to all relevant data and samples so that she can continue her lifelong research.

Thank you to FMD Chat for printing and delivering our petition to Washington D.C.
Special thank you to Rare Disease Patients: Sarah Kucharski, Fran Saplis RN, and Judy Brown for delivering our petition!

I am writing on behalf of rare disease patients like myself who participated in the study along with the more than 500 patients who were on the waiting list to attend this study. The patient organizations that have been impacted this study's closure and have collaborated together to support this petition for the betterment of all patients are as follows:

Global Genes Project

Rare Disease Legislative Advocates 

EveryLife Foundation

Genetic Alliance

FMD Chat

EDS Network Cares

Dysautonomia International

Marfans Foundation

Rare Connect

NORD

Orphanet FRANCE

Croatian Alliance for Rare Diseases

The Joe Niekro Foundation

EDS Today

EDNF

CEDSA

Orphan Druganaut Blog

Sällsynta diagnoser/Rare diseases Sweden

Diseases that NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” studied result in severe disability and even death for those afflicted. This research represented the only hope thousands of families had in finding the cause and cure for these rare diseases. Restoring the study will return hope and continuing the extensive work done over the last 10 years. It will ensure all the progress we have made will not have been in vain and keep us on a path to a cure. Each of the more than 10,000 signatures on this petition has helped spread awareness of rare diseases and the continued need for research. 

If the NIH does not restore NIA Protocol 2003-086, it will leave victims and their families without a place to turn for answers and send the message that our lives are not worth the investment of finding a cure. Even worse, the samples and results already gathered could be lost, leaving scientists to start over.

I ask you to reinstate NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue" and request a formal response to this petition. 

Warmest regards,

Kari Ulrich
Rare Disease Advocate and Patient 
Albert Lea, MN 56007
kaulrich@me.com

Minnesota Governor, Mark Dayton, Proclaims Rare Disease Day!

Thank you Governor Dayton for proclaiming February 28, 2014 Rare Disease Day in our beautiful State of Minnesota!

"The Office of Governor Mark Dayton will issue proclamations for extraordinary state or local events that deserve special recognition from the Governor. Proclamations will be issued for events or activities that affect a broad group of people. "

Kari Ulrich Rare Disease Advocate Minnesota
Fibromuscular Dysplasia/Ehlers Danlos Patient

Rare Disease Facts:

• 1 in 10 people have a rare disease
• Rare diseases impact more people than aids and cancer combined
• 80 percent of rare disease are caused by faulty genes
• There are approximately 7,000 different types of rare diseases 
• In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group.
• Approximately 50% of the people affected by rare diseases are children
• Rare diseases are responsible for 35% of deaths in the first year of life
• According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
• Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

A look back: Aug 10, 2011 Mayo Clinic Social Media Essay

Same Goals + Another Day = Perseverance  

In April 2007 I was diagnosed with brain aneurysms and a rare vascular disease called Fibromuscular Dysplasia (FMD). What started as exercise intolerance and a swishing in my ear turned into something much more serious. I had symptoms for many years, but nobody had really put it together until I had a thorough coordinated evaluation at Mayo Clinic. Through this journey I learned that vascular disease in women is under diagnosed. I also learned that there is not much patient support or advocacy.

Being told that you have rare disease is devastating. Instinct or "fight or flight" took over and I decided to fight. Like many empowered patients I went to the web and found both reliable and not-so-reliable sources. I also noticed that patients like myself expressed two main concerns when it came to their health care. First, their doctors did not take their symptoms seriously. Second is that many are frequently given misinformation regarding their disease.

I wanted to find a way to support those afflicted with FMD and other non- inflammatory vascular diseases. In 2010 I co-founded a support group called Midwest Women’s Vascular Advocates. Our mission is to support and educate women with non-inflammatory vascular disease. We have a web page and a Facebook site as a way to connect with others. Locally we hold support group meetings twice a year and have drawn patients from out of state.

My experience using social media has included Twitter, Facebook, Linked In, YouTube, and blogs amongst other online community support. I use Twitter (@FMDGirl) to help educate the public about vascular disease. This has been a great media to interact with other health care professionals and patients. I have held one twitter chat #FMDChat that I hope to see grow over the next few years. Through social media contacts, I was also interviewed for over an hour on a medical internet radio station with call in guests. With new information coming out through research and increased awareness social media is going to play an important role in getting accurate information out to the public.

@FMDGirl and @westr

With the use of social media I have found many others like me all over world. I was fortunate to meet a young girl from South Africa with a rare form of FMD through Facebook. Facebook became an important tool in getting her the proper medical care that she needed. Through this contact I was able to facilitate consultation and treatment at a US medical facility and help fundraise on her behalf.

Rare disease needs more attention, and being able to participate in Mayo Clinic’s Social Media Summit will give me the opportunity to explore more diverse communication tools. Participation will help me facilitate change locally and globally. I hope to learn how to become a better blogger and how use video technology as a medium of communication. The world of health care in social media is exploding in many directions and it is my hope that the summit will give me a clearer picture of what social media can do to help me reach my goals.

Knowledge can empower patients and caregivers. There is more work to be done, the health care community has come a long way since my diagnosis but it is not enough. Being proactive through social media is the answer to making rare diseases not so rare. I would like to contribute to the conference through my experiences both as a patient and an advocate. I can give insight to the thoughts and fears patients face when dealing with a rare disease. I can bring attention to what is needed in social media health care.

My goal is to see the medical community embrace social media as a way to make important changes in health care and the way we look at rare disease. We can learn a lot from each other by making a connection. Social Media allows patients to become real, with real concerns and fears. We are a new voice that demands information and we want be active team members in our care. I would be honored to be one of the many voices that change the way the world participates in health care. 

http://connect.mayoclinic.org/discussion/social-media-summit-scholarship-essay-kari-ulrich?pg=1#post-16439

Our Miracle Baby! A mother shares her experience with pregnancy and Fibromuscular Dysplasia.

Another of the story in a series of guest blogs featuring patients and families that are impacted by the closure of rare disease research by NIH/NIA. Patients are not satisfied with the response we have received from NIH/NIA. We want to get the message out that closing our research affected people not just numbers in a study.

Meet Nolan our miracle FMD baby. He has been a hero to many young women in the FMDChat community. Nolan's mom is our guest blogger today. We are grateful to mom, Kaitlyn Wisniewski for sharing her experience with us.

Nolan our Hero!

Written by: Kaitlyn Wisniewski

I was diagnosed with a rare disease called Fibromuscular dysplasia in October of 2012. At the time I was 6 weeks pregnant with my second child. 

Nolan turns 1 next month! Happy Birthday Nolan, you are loved by many!

The FMD had caused a chain reaction of 
renal artery stenosis which caused uncontrollable hypertension. My blood pressure was around 240/140. I was told it was in my best interest to give up the pregnancy because no one knew if the baby would make it to a viable date or if my body could handle the pregnancy. I needed a surgery that I couldn't have until I delivered.  We decided to push our luck a bit and my son and I fought very very hard and made it to 29 weeks! He was born on March 22nd weighing 2lbs 5oz, he is now ten months and thriving! I had angioplasty on my renal arteries and just last week was taken off all of my meds! It's a progressive and aggressive disease with no cure but for now I am winning. Love and hope to all others fighting rare diseases!

Kaitlyn

Kaitlyn preparing for her wedding in 2 months!

Thanks to FMDChat our petition to reinstate our research will be hand delivered in Washington DC by patients on Rare Disease Day! 

Please SIGN HERE

Fibromuscular Dysplasia, Brain Aneurysms, Ehlers Danlos, Marfans. We overlap, we need research!

Another of the story in a series of guest blogs featuring patients and families that are impacted by the closure of rare disease research by NIH/NIA. Patients are not satisfied with the response we have received from NIH/NIA. We want to get the message out that closing our research affected people not just numbers in a study.

My guest blogger today has a special place in my heart. It was because of Melva that the FMD/EDS overlap was discovered.

Warm Regards, 
Kari Ulrich
Rare Disease Advocate and Patient

Written by Melva Buck: 

" I went the first year after diagnosis with little info on FMD. My drs knew even less. So I waited to just die. About that time my mom moved in with me due to dementia. I noticed a lot of weird stuff going on with her. Her Dr and I were friends and he could not answer my questions. So I plugged all her symptoms into the laptop and saw EDS. I knew in an instant that I had EDS and her too. I compiled data and pictures and found the EDS study online. Dr Naz agreed to see me. After she saw me then she labeled me with 2 rare disorders. A short time later- a group from the first online FMD group decided to meet up. I knew when I saw them that they had EDS as well. I asked them to go to the study and they did at their own expense. They agreed and Dr naz realized something was up. She opened the EDS study to include FMD She is the REAL HERO I LOVE THAT WOMAN!" 

Melva Buck 

Guest Blogger: Melva Buck

I was diagnosed with Fibromuscular Dysplasia after I had brain aneurysms rupture in 2000.  I was diagnosed with Ehlers Danlos in 2003 at the NIH in Baltimore, Md.   I was told by Dr Naz McDonnell that I had an overlay of Marfans and she advised me to watch for aortic root dilation.

I gradually saw my aortic root dilate from 3.6  to 3.7  to 3.8  to 3.9    every 6 months.   I was advised to see a surgeon  at 4.0. During this time period, John Hopkins did a study where Cozaar would reduce the size of aortic root dilations.  I was given the Cozaar and my aortic root reduced back to 3.6 with no surgery.

So to my point...    The NIH study saved my life by giving me the info on EDS and Marfans.  John Hopkin's study saved my life by the study on Cozaar.

Patients with rare disorders depend on the new information that are generated by these studies.   Please help us stay alive by allowing these studies to continue.   My husband is dead from cancer and I have 3 teenagers who realy need their mom.    

Thanks, Melva Buck

Thanks to FMDChat our petition to reinstate our research will be hand delivered in Washington DC by patients on Rare Disease Day! 

Please SIGN HERE

Sticklers: NIH/NIA must understand we are people not research numbers.

This is one of the stories in a series of guest blogs featuring patients and families that are impacted by the closure of rare disease research by NIH/NIA. Patients are not satisfied with the response we have received from NIH/NIA. We want to get the message out that closing our research affected people not just numbers in a study. If patients don’t fight for this study who will? 

Kari Ulrich

Rare Disease Advocate

Today my guest blogger shares her experience with Sticklers. 

Written by: Monica Dunivan

I am currently recovering from my 2 retinal detachment and at the same time my brother is recovering (not too well ) from his 4th retinal detachment. My son and my brother were both born with cleft palate pierre robin syndrone- the birth of my son resulted in the genetic testing that led to the diagnosis of sticklers syndrone. We need to get help- My oldest son is 26 and already blind in one eye and his vision is very poor in his good eye, I do not want him to go blind. My 23 year old needs hearing aides and most days is in pain from arthritis- this is something that is obviously very prevalent in our family and now I have a granddaughter- I would love for her not to have to go thru the same things that we have. Please Help with research!!!

Less than 350 signatures to go! Please share and sign our petition CLICK HERE. Patients will be presenting this petition on Rare Disease Day US in Washington D.C. Feb. 28th!!!