Therefore, we’re writing to ask what questions you would like to ask FDA and what topics you would like to discuss during this special patient advocacy day.

The meeting is intended to enhance awareness of FDA’s roles and responsibilities in the development of products (drugs, biologics, and devices) for the diagnosis, prevention and/or treatment of rare diseases and conditions. It will also be interactive so there will be opportunities to educate key FDA officials about the needs of the patient community.

The day will include an in-person meeting at FDA for patient advocates, along with a simutaneous webcast. Experts from various FDA centers, and from outside the agency, will give presentations during the morning. The afternoon will be devoted to Q & A and roundtable discussion.

If you would like to suggest topics for this meeting, or just want to share your thoughts about common misperceptions between the patient community and FDA, please send them to Mary Dunkle at NORD (mdunkle@rarediseases.org or 203 744-0100) so that they can be shared with FDA at an upcoming planning meeting.

Congenital Hi kids Has been a member with Nord since 2009
We are asking many of you to come together and start sending emails on how important the pet scan  is and how it saved your child’s life. We also think it is very important to write to them about the research and with out the research being done for this disease there would not be able to take children with Hyperinsulinism.  We would personally like to see them recognize Hyperinsulinism as a rare disease so that the children would be able to receive proper insurance and health care.

Which begins our journey. We stayed with Brenna for 2 weeks at hospital in New Jersey but the doctors there couldn’t figure out what was wrong with her. I begged them to transfer her to CHOP which is where we should’ve gone from the beginning! Minutes after being admitted to CHOP they confirmed that Brenna had Hyperinsulinism. Another 2 weeks later Dr. Stanley and his team determined that she had diffuse HI, started Diazoxide, Diuril and Octreotide. The genetic tests that were done there were inconclusive and she responsed so well to the Diazoxide that were confident that she had diffuse HI and called off the PET scan. Brenna was on Octreotide for 3 months. However, she had to be taken off of it because it kept causing her bsl’s to skyrocket to dangerous levels and then drop like a stone. Her eating had somewhat improved with her curious palate that began to enjoy solids more than formula.

In the summer of 2010, we successfully weaned her off the Diuril as suggested by her endocrinologist. Her body has been able to regulate her fluid retention issue. She has been on the same 1mL dose of Diazoxide since she was 6 months old and is doing great. Brenna passed her 18 hr fasting study and her Protein Sensitivity results were also negative.

Other than that, my pregnancy was unremarkable with no Gestational Diabetes. However, I did have pre-ecclampsia and thus was induced. I had a normal, drug-free, vaginal delivery. Her diagnosis came to us with much surprise since the doctors that delivered her told us not to worry or monitor her bsl’s and there is no family history of Hyperinsulinism in our families. Brenna was a late walker, talker and still can go with out eating unless it was something she REALLY loved like–M&M’s and that sort of thing. She is enrolled in early intervention services and has regular PT/OT and Speech Therapy to combat the challenges of her developmental delays. However she is sharp as a tack and is a beauty with a spritely smile on her face with lovely personality. She has the wit, will, charm and humor of a old soul. She’s truly our blessing and wouldn’t have her any other way!

• The U.S. Senate has approved with unanimous consent a resolution designating Feb. 28, 2011, Rare Disease Day throughout the U.S.  This resolution was sponsored by Senator Sherrod Brown (D-OH) and co-sponsored by Senator John Barrasso (R-WY).  If you live in Ohio or Wyoming, be sure to thank your senators for this.
• We have an unprecedented number of state proclamations this year.  NORD extends a huge thank-you to all who helped with this, and a special shout-out to Kelli Foster and others in the Mastokids.org group for their amazing efforts!
• There are more than 500 Rare Disease Day Partners for 2011!  This illustrates the strong collaboration among patients and families and those who are dedicated to assisting them.  See the list of Partners on the Rare Disease Day US website.
• NIH Director Francis Collins will speak at the NIH Rare Disease Day event on Monday.  Speakers representing the patient community will be NORD President and CEO Peter L. Saltonstall and Genetic Alliance President and CEO Sharon Terry.
• Events submitted through the Rare Disease Day US website are listed state-by-state.  See what’s happening in your state.

• FDA is hosting a “Do A Designation” workshop at the Keck Graduate Institute in California on Feb. 28 and March 1.
• NORD will be continuing its “Video Library” project to create 1- or 2-minute videos describing as many rare diseases as possible.  For each video posted, Alnylam Pharmaceuticals will donate $10 to NORD to support education on all rare diseases.  In addition, Donate Games has donated an XBOX 360 Elite Bundle and other prizes to be raffled off to a few lucky individuals who submit videos.
• Still not sure what to do on Rare Disease Day?  Tell at least three other people about the rare disease of interest to you and how it impacts daily life.  If you participate in Facebook, consider changing your profile photo to the Rare Disease Day logo for that day.

Thank you for your support!

NORD is grateful to everyone who, in any way, has provided support for Rare Disease Day 2011.  This has been the best year ever, and it’s all because so many people find creative ways to participate, no matter where they are or how few resources may be available to them.

For the complete overview of Rare Disease Day events in the U.S., go to the site hosted by NORD at www.rarediseaseday.us.

And don’t forget to visit the global Rare Disease Day site hosted by EURORDIS at www.rarediseaseday.org.

We’ll keep the US website active after Rare Disease Day.  Next year will be a leap year, and that means that Rare Disease Day 2012 will fall on February 29th, the ultimate rare day.  Be sure to check the website periodically through the year to see about plans for that special Rare Disease Day!

NORD is partnering with the Pew Research Center to conduct an informal study of how people with rare diseases obtain and share information about their diseases and available resources.

We are asking you to tell your members about this study and to encourage them to complete the short survey to ensure that as many rare disease organizations as possible are represented in this survey.

You are probably familiar with the Pew Internet and American Life Project, which has published several widely publicized studies of how Americans use the Internet. Since the Internet has particular implications for people with rare diseases, Pew and NORD feel it is important to document ways in which the Internet is used by this particular population.

It takes just a few minutes to complete the survey, and it is not necessary to answer every question. Also, responses will be partly anecdotal: Respondents will be invited to elaborate on their own experiences if they choose to do so.

This project is being done in conjunction with Rare Disease Day, and the results will be released to the press—and to all of you—in February, just before Rare Disease Day. Because Rare Disease Day is all about education and raising awareness, NORD is very happy to partner with Pew in this project designed to educate all Americans about specific rare diseases and the challenges associated with having a rare disease.

Please post the link to the survey on your website or distribute it in other ways to your members. The survey will be available for just three weeks, so it is important to distribute this information as soon as possible. Please also feel free to post the link on Facebook, Twitter or any other communications channels that you use. NORD will be doing the same.

We appreciate your help in this project and—even more—your support for Rare Disease Day and its goal of raising awareness across our nation and around the world of rare diseases as an important public health concern.

Link to online survey: http://www.psra.com/ nordsurvey.html

Your Pin code would be 1111

To Learn More about How Congenital Hi Kids have been raising awareness with Nord for Hyperinsulinism Please click on the Links below.

http://www.inspire.com/Hyperinsulinism/

Regards,
Angela Johnson

We would also like to thank the Hyatt Place and the Fort Worth Stockyards for all the hard work in working together to raise awareness for Hyperinsulinism but for all the love and support you have shown to HI families while visiting Texas.

Many families came together from across the United States to meet and share their HI journey with other Hi families.

Please take time to view the videos of families whom wanted to share their HI journey

http://congenitalhikids.org/parents_speak_out

Thank you to everyone who has supported the Organization.

At birth Alexa Alexa was diagnosed with Hyperinsulin and Hypoglycemia. Due to this condition she was taken to Mayo Clinic in Rochester, MN. At Mayo she has had to endure multiple surgeries in order to remove the growth that was on her pancreas and also to repair her bile duct. She had another surgery to repair damage to her bile duct in early February.

This benefit is being held in order to help pay for medical expenses related to Alexa’s procedures and continued hospital stays. The benefit is being hosted by her family and Thrivent Financial of Chickasaw County. The benefit includes a dinner and silent auction.

If wanting to donate an item for the silent auction or have questions about the benefit please contact Alexa’s grandma, Patti Rosauer, at 641-394-2761 or call Alexa’s uncle, Chuck Mashek at 319-830-6157.