Response to Ms. Cahan Director of Communications NIA/NIH

We continue to fight for our rare disease research! How can you help?

1. Sign the petition:  http://chn.ge/1bsPjZo

2. Write to your senator: http://www.house.gov/representatives/find/
Ask your senator to write a letter to NIH asking why this study was halted and to request to have study reinstated.



Dear Ms. Cahan,

I appreciate you contacting me regarding the request for reinstatement NIA Protocol 2003-086. Unfortunately your response does not address the many concerns that I have. This study was closed prematurely, without a reasonable explanation.  You stated, "The goal from analyzing these data was to identify biological pathways that might serve as targets for new treatments” Unfortunately you did not meet this goal as you would have the public believe. 

You have stated,  "We want to make it clear to participants and to the community interested in this research, however, that the data and samples are being archived and will be maintained. When the NIA has completed organizing and processing data and samples, they will be made available to qualified researchers for analyses.” 

How is this being done specifically? Will you allow the lead investigator Dr. McDonnell access to this data so she can continue this imperative research? 

I will continue on this plight for reinstatement until this study is reinstated fully and the investigators, who have expertise  of these diseases have access to the data. The 10 years worth of data is best used by the investigators who are most knowledgable about my disease.  I will not stop the petition or contacting my congress until these issues are addressed to my satisfaction.

I hope we can continue the dialogue to get this very important research reinstated immediately. Many lives depend on this research. It is very disheartening to say the least that NIA states the major goals of this study have been met, when in fact we have no biomarkers or responsible gene for this disease, not even a treatment protocol. How can it be possible for major goals to be made when NIH/NIA never brought back the participants of the longitudinal study? You had over 500 people waiting to go to the study. NIA has a responsibility to me and other patients to finish what you have started. Do not waste any more tax money or time, this work is important on so many levels.

Warmest Regards,

Kari Ulrich

Rare Disease Patient

On Dec 27, 2013, at 10:45 AM, Cahan, Vicky (NIH/NIA) [E] <cahanv@31.nia.nih.gov> wrote:

Dear Ms. Ulrich,

Thank you for contacting leadership at the National Institutes of Health (NIH) and the National Institute on Aging (NIA) about the NIA’s natural history study on inherited connective tissue disorders.  I am the Director of Communications at the NIA, and your note was forwarded to me for response.

We thank you for your interest and participation in the study. I am writing to help clarify some of the points about the study that you have raised in your note and petition, and the attached document should provide reassurance on issues of concern. While data collection has stopped, we want to assure you that the data collected over the course of the study are being organized and archived so that they can be made available as soon as possible to qualified researchers. No samples are being destroyed, unless a participant has formally asked that we do so.

Further, the attachment offers telephone numbers at NIA for patients who feel that their condition is not presently being addressed. Your communications with us suggest, however, that you are working with knowledgeable medical team.

Again, thank you and your family for your valuable time and effort participating in this study. We very much appreciate your interest in NIH-supported research.

Best regards,

Vicky

Vicky Cahan

Director of Communications

National Institute on Aging

National Institutes of Health

From: Kari Ulrich [mailto:kaulrich@me.com]
Sent: Saturday, November 30, 2013 4:01 PM
To: Collins, Francis (NIH/OD) [E]; Hodes, Richard (NIH/NIA) [E]; Gottesman, Michael (NIH/OD) [E]
Subject: NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue"

Dear Drs.

It is with great respect that I contact you all today regarding my petition to reinstate NIA Protocol 2003-086. I am hoping you can offer me some insight as to why this study was closed abruptly without a reasonable explaination. More importantly we have received over 5,000 signatures asking for this study to be reinstated. 

I would like to start a conversation with you about making this happen. I value your time, and look forward to hearing your response.

I remain confident that a positive resolution can be made. 

Warmest Regards,

Kari Ulrich

Albert Lea, Minnesota

Petition: http://chn.ge/1bsPjZo

Vascular Ehlers-Danlos Lessons in Life

David's Lessons in Life
Today I want to share with you an experience that will hopefully touch your soul as it has mine. 
Why should we care about rare disease research? Hopefully you will find the answer in the words below.

Welcome Guest Blogger: Cathy Bowen, David's Mom

Cathy and her son David

Not too many people know this but David left us with a profound message after his death. I share this to bring/give you HOPE. There are so many things that happened over the last 17 years, that I could never begin to fully explain them all.  There are just too many to include in this post. I learned that there are no coincidences. Some of these events would be called a"mystery"....the "unexplainable."

After the initial perforation and his recovery, Dave was afraid that something would happen to him, that he might die. So, I would sit with him at bedtime every night until he fell asleep for the first couple of weeks after he got home from the hospital.  He eventually gained all his strength back and was doing great. He wasn’t afraid anymore. Then it was time to go back in the hospital to have the colostomy reversed.     

The weeks before his death David was fully aware of everything, he never hallucinated or talked crazy. The day before his death he started talking in his sleep. I thought he was asking me something so I went over to him and woke him to ask him if he was talking to me. He opened his eyes and looked right at me and said, “No mom, when I close my eyes I see a whole other scene and I’m talking to “THEM””. This took me aback and I regretted that I never asked him who “they” were.    

My sister-in-law and I both worked for our local school system. The next day after David’s died a teacher at his school went into the computer room to work on something, when he started the computer this poem popped up. He must of read it and then closed it out. When he was finished he went into the office that’s when he found out that Dave had passed away. He told them about what just happened and he went back into the computer and printed the poem out. A friend of my sister-in-law called her to tell her what just happened and then she went to get the poem. She called me to tell me and I told her that I couldn’t hear it right now. My brother told me it was very profound (it seemed to mean different things to different family members and it affected my brother as well) I asked him to read it at his funeral if he would.

Now understand that Dave wasn't a reader or a writer the only thing he ever read on his own was the stats on his favorite hockey team,the Philadelphia Flyers. So, I was really reluctant to believe that he had written this poem when he went back to school in May (it was dated June 7th, 1996 for a class project). He didn't tell me about it, he usually always told me everything...this is what was really strange.

David 

At the end of Dave’s funeral at the cemetery my brother started to read his poem. As he read his voice started shaking and cracking from the emotion he felt. My brother was always tough as nails and never showed his feelings. I was so moved that he was so deeply touched by these words. What I heard the most was the last few lines that touched my core and it was as if I heard Dave's voice whispered in my head...saying, "See Mom, now I can do ANYTHING"

I immediately knew it was in response to when I was in that conference room (3 days before his death) with the doctor and the Geneticist.They told me that they thought Dave had vascular EDS and that at any time something could happen to him. That if he survived he would be very limited and would never be able to obtain his dream of playing ice hockey one day.  After that blow, I had to suck up all these emotions so that Dave wouldn't see the anguish on my face, because he knew me so well. He never knew what was said in that room that day. He never knew about vascular EDS.

I knew that's what he was telling me in that poem where the answers to all the questions that had been going around in my head. That he saw God's face and He's the blinding light that he speaks of. And that he reached the goal...HEAVEN, and that it was meant to be and sadly nothing could of changed this, and that he NOW can do everything that they told me he would NEVER be able to do.

Two years after his death, I was asked to call this mother who had just lost her daughter because of EDS. Within the first five minutes of our conversation she said to me, “Then she started talking to “THEM”. I almost feel off my chair as my breath was sucked right out of my body. I asked her, “WHAT”, who were they?” She said her daughter told her, “They were her three friends and they were angels.” She then preceded to tell me everything her daughter told her about “THEM.”  That they took her up to see God, it was a long staircase that she walked and when she got to the top…God was as bright as the sun. No one in her family had believed in God prior to this. She told her mother and sister that God was real. She said that there is an angel for every problem and they are sent to help. The only one she mentioned to her mother was the angel for a broken heart. She began to sit in the sun or in front of bright lights…she at peace there and would sit for hours. It reminded her of her visit with God. She kept asking her if she would be alright if something ever happened to her, she was worried about her mother. She was preparing and helping her mother for what was about to happen. She died on Christmas night…her name is Mehsonia and she was 16 years old. Dave and her were born the same year.

When Dave died, I died and so did my faith. It took me many, many years to absorb the full impact and meaning of his poem. I analyzed it till I was insane and finally I came to believe that he did in fact write it, but I believe the meaning was meant for after his death. It is just too profound, so very spiritual and for him not to tell me that he wrote something so AMAZING...he wouldn't have been able to wait to share that with all of us. This is why it was so very hard for me to believe. He just wouldn't do that, so the only explanation was that it had to be inspired…this was the gift that God allowed David to leave for his father, his sister, me…and now all of you!!!

"LIFE"

His name tells how it is for him

He wonders, whether he should go on

But he feels so strong on reaching his goal

There are many things that happen to him

but he just pushes on

The goal is like a shining light,

that is blinding him

The only way of stopping the light

is to reach the goal

Something happens and he thinks about stopping,

but the way is now drawn for him

and he knows after getting through this

has helped him see the light

even brighter now

The way he feels now he can do

 "ANYTHING"

Written by David Daniel Bowen III on June, 7^th 1996
Vascular Ehlers- Danlos Angel

Please help us reinstate our research sign and share this petition and help make a difference. 

NIH: Keep Hope Alive and Restore Lifesaving Study

Alone we can do so little; together we can do so much. —Helen Keller

The words of Helen Keller spoke greatly to me as I have reflected on accomplishments of the past few weeks. 

The National Institute of Health (NIH) has halted the only national study on rare genetic connective tissue disease. These diseases result in severe disability and even death for those afflicted. It represented the only hope thousands of families had in finding the cause and cure for these rare disease. We are asking the NIH to restore the 10 year study.

We have over 5,000 signatures supporting our petition. It is my goal to get 10,000 signatures to present to NIH/NIA. With this it is my expectation that the study will be reinstated and we will be assured that our data and specimens will not be lost. I remain confident that with each signature we are spreading awareness.
Petition: http://chn.ge/1bsPjZo

After a full nights sleep my body woke in pain, reminding me of a chronic illness that I have finally given into. It was that morning reminder that inspired me to work past the pain and start doing what so many of us with invisible illness have been speaking about. I wrote my first petition asking the NIH/NIA to reinstate research that is has been going on for over a decade. Although I  have not yet reached my goal of 10,000 signatures something has incredible has been happening. 

This is no longer my goal, but our goal. The patient organizations have come together united in our voice. We are empowering each other to do more. By collaborating we have shown the medical community that we will remain steadfast in our words. 

So today I would like to thank each organization for collaborating with each other for the betterment of the patient. I also would like to thank all the patient communities that have come together from EDS and Sticklers, to FMD and Brain Aneurysms, Marfans there are too many to list. Although we are far from done with our mission we will continue to support and care for each other in years to come. 

Global Genes Project

Rare Disease Legislative Advocates

Genetic Alliance

NORD

EDS Network Cares

FMD Chat

Marfans Foundation

Rare Connect

Orphanet FRANCE

Croatian Alliance for Rare Diseases

The Joe Niekro Foundation

EDS Today

EDNF

CEDSA

Orphan Druganaut Blog

I encourage other organizations to get involved and help make a difference for the good of the patient. Today I am reaching out to all rare and genetic disease patient organizations and I am asking you for your support. 

Restoring the study will return hope, 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. 

If the NIH continues with their current plan to end the study it will leave victims and their families without a place to turn for answers and send a message 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.

Warm Regards,

Kari Ulrich
kaulrich@me.com