RARE DISEASE DAY

 

RARE DISEASE DAY

Please visit this web site and learn about Rare Disease Day.

Just a year ago....

While I have been going through photos and photos Haven for 2009 I was reminded of this post I did in January 2009! It's still very exciting to me and I'm so happy they listened to my email request and read the info I sent to them!

ROHHAD: Genetic and Rare Diseases (GARD) Information Center

I AM BEYOND EXCITED!!!!!!

I have emailed NORD, ORD, GARD, and ORPHA regarding the syndrome ROHHAD. As none of these had a listing for ROHHAD and all of these are organizations for rare diseases. I would like to share an exciting email I received back from GARD today!

Summarized version of the French study on ROHHAD vs. ROHHADNET

Dear Ms. Fowler,

You recently submitted an online e-mail to the Genetic and Rare Diseases (GARD) Information Center about ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation). You mentioned that your 4-year-old daughter has been diagnosed with ganglioneuroblastoma cancer and ROHHAD. After conducting research on your own and consulting with your daughter's physicians, you have come to find that there is very limited information available about this diagnosis. You wrote to us to request that we add ROHHAD to the ORD list of rare diseases.

We wish to thank you for bringing this condition to our attention and in response to your email, we have created an online question and answer page on this topic. If you'd like to view this information, we invite you to visit the links listed below.

Visit the link to view a Q&A about ROHHAD. CLICK HERE!!!

Visit the following link to view resources related to this condition. CLICK HERE!!!

THANK YOU FOR LISTENING!!!!

ROHHAD slowly enters the world.....

It's been a slow long process of researching and sending info to different organizations hoping to get the word out there about ROHHAD. I spent a lot of time collecting info and getting it out there. Many of the Moms of ROHHAD helped me out. Especially grateful to Vicki for all her research and info on her daughter Leigh Ann. Julie has been my rock and constantly giving me any info I need about her family and Mason. Reading other blogs from other families and learning about their children. EuroMom for knowing more than a million doctors I've talked to and overloading me - thank you!

It's crazy at the hospital with people who haven't worked with Haven. I've had a few people come up to me and say "Did you know your daughter's picture is on the Internet?"

Well at least it brings a chuckle to me. Yes I know she's on the Internet. It wasn't a hard choice to put her on there. So few people know about ROHHAD and the only way to get the info out there is to tell our story.

Last year I kept bogging down the NIH and sending info on ROHHAD to them. After about 3 months they emailed me back thanking me for the info and that they had researched it and have put the info on GARD.

Well tonight I randomly searched ROHHAD as I usually do and wha la...it's now on NORD!

I met with our social worker this week and she tells me "sorry, there is no assistance or organization for ROHHAD". Yes I know.

My only hope is that some day there will be an organization that will help children and families with ROHHAD. An organization that helps you because you have the illness not only when you stop breathing on your own. It's a hard disease.

My child is still able to breathe on her own - many can not. They rely on ventilators.

My child has 70% of the other symptoms of ROHHAD. So where do we go from here? You can't get assistance on "inability to feel pain" or "inability to show emotions or cry" or "inability to sleep because your mind doesn't know it's day or night" or "lack of sensation to know to go to the bathroom" or "even if you don't eat you'll gain weight".

The more people that know hopefully will help in bringing about help for our children.

Children we constantly think about with ROHHAD:

Leigh Ann
Mason
Sophia
Joshua
Nikki
Euro
Malaysia
Jenna
Carla

We love all of you. thank you to everyone for getting the word out there and sharing your story. It really makes us stronger in the fight!

ROHHAD and RARE DISEASE DAY

Just wanted to remind everyone - this Saturday, February 28th is Rare Disease Day.

RARE DISEASE DAY is not only in the USA. There are events planned all around the world. Check out the web site and check out your location. UK starts on the 25th!

While I am constantly researching ROHHAD and Ganglioneuroblastoma Cancer I sometimes run across new sites that I have never seen before. Mainly because they have my daughter's name in them or they list something relating to ROHHAD. About a week ago I found Little Miss Hannah's web site. Hannah is 6 months old and is fighting Gaucher’s Disease Type 2 or 3. Since her mom shared Haven's link to bring awareness to Haven's rare disease I wanted to share with you Hannah's link.

I would like to thank some other brave women who have emailed or sent me letters about their child's stuggle with ROHHAD. Although they are worried that it may push me to lose all hope to hear their stories I am overjoyed to hear from these moms.

Although some doctors want to make this disease be our fault and accuse of us causing this disease we have to be strong in knowing we did nothing as parents to make this happen. We all have the same story from our child's birth. I am reading your letters and everything is like deja vu - I'm sure all of you feel the same when I send you Haven's story.

For 2 years we were told it was our fault and we were overfeeding our child and we were doing everything wrong. I have been angry for 3 years now and even when I tell myself I'm not going to be angry anymore I am. ROHHAD SUCKS! It's horrible....I hate it. No one understands it and it seems like you are alone. None of us have slept in years due to worry about our children. We all pretend to go on like everything is normal....but when I take my daughter shopping for clothes I am reminded it is not normal.

People stare and believe it or not, people say stuff. People come up and say stuff about how our children are fat and that we should be ashamed of ourselves as parents and how we are ruining our child's life. I'm sorry but I want to go insane on these people but out of respect for my daughter I keep it as civilized as I can. I can't promise that I'm always civilized. I know all of us as parents with ROHHAD children are going through this. AND I shouldn't have to lock my daughter in her house so she won't be stared at by ADULTS! Anyway, I hear all of you and I completely understand what all of you are going through...we just have to be there for each other.

I took Haven shopping Saturday to buy some new clothes - as she has again grown out of everything we bought only a couple of months ago. She didn't want to try anything on - she didn't even really care to look at the clothes. She told me "I don't know why we come shopping - nothing fits me". This is extremely difficult for me to hear and even more for her. I don't know what to do here. She's 5 years old and wears a size 12/14 shirt.

April 1st Haven's doctors meet with the medical board again about her ROHHAD and where to go. Until then I will be working on some reports and charts for the doctors to take with them. I am collecting data from all of the mom's I talk to. I have a few that do not want their name or daughter's names used - and that is fine. They are still sending me all the info I need to make my report.

Some day there will be a treatment and cure for ROHHAD.

All our love to our wonderful friends fighting ROHHAD:

Mason Byrom



Joshua Wooten


Sophia Adamo

ROHHAD: Genetic and Rare Diseases (GARD) Information Center

I AM BEYOND EXCITED!!!!!!

I have emailed NORD, ORD, GARD, and ORPHA regarding the syndrome ROHHAD. As none of these had a listing for ROHHAD and all of these are organizations for rare diseases. I would like to share an exciting email I received back from GARD today!

Summarized version of the French study on ROHHAD vs. ROHHADNET

Dear Ms. Fowler,

You recently submitted an online e-mail to the Genetic and Rare Diseases (GARD) Information Center about ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation). You mentioned that your 4-year-old daughter has been diagnosed with ganglioneuroblastoma cancer and ROHHAD. After conducting research on your own and consulting with your daughter's physicians, you have come to find that there is very limited information available about this diagnosis. You wrote to us to request that we add ROHHAD to the ORD list of rare diseases.

We wish to thank you for bringing this condition to our attention and in response to your email, we have created an online question and answer page on this topic. If you'd like to view this information, we invite you to visit the links listed below.

Visit the link to view a Q&A about ROHHAD. CLICK HERE!!!

Visit the following link to view resources related to this condition. CLICK HERE!!!

THANK YOU FOR LISTENING!!!!

NORD Invites You to be a Rare Disease Day Partner

Help by signing up and encouraging others!

The National Organization for Rare Disorders (NORD) is coordinating the observance of Rare Disease Day in the United States on February 28, 2009. On that day—and in the weeks leading up to it—we will join with others around the world to conduct a variety of activities to raise awareness of rare diseases and the need for safe, effective treatments.

We invite all patient organizations, companies, medical societies, government agencies, and others with an interest in rare diseases and orphan products to join us in this global effort. You can do this by writing to rarediseaseday@rarediseases.org and signing up as a Rare Disease Day Partner.

Office of Rare Diseases
National Institutes of Health
6100 Executive Boulevard, 3B-01
Bethesda, Maryland 20892–7518
Telephone: (301) 402–4336
Fax: (301) 480–9655

ord@od.nih.gov

ROHHAD CHILDREN

Below is a cross reference post from Vanessa Wooten's blog site - I really hope you have had a chance to visit it and continue to check on Josh and their family. I am very thankful to have found her and hope to find more mom's out there!

Josh at the Special Olympics

I would like to introduce everyone that reads this blog to Joshua Wooten. He was diagnosed with ROHHAD in 2005. The Discovery Channel did a documentary on Josh and you can see it at Vanessa's blog site. Hopefully I will be able to visit Vanessa and her family some day and to meet Josh. Josh became the poster child for the disorder after the Discovery Channel - I would love for the Discovery Channel to replay this so more people can see it.

Josh takes 1st place - CONGRATULATIONS!

Josh's ventilation system that keeps him breathing

I have contacted his mother Vanessa Wooten and am able to talk with her. Where did I find her - FACEBOOK! I am finding that this site has connected me with more people than I could imagine. The Wooten family lives in Texas.

Other Children of ROHHAD - please see Vanessa's site for more info on these other children.

Leigh Ann W. of Kentucky. She was born April 1990. She began having symptoms at about age 2. Leigh Ann passed away of complications in February 1998 (at 7 years 10 months of age).

Jenna S. of Connecticut, who is now 6. Jenna seemed fine until she suffered a seizure at age 3. She was officially diagnosed at age 4. A major (2 and a half hour) seizure in June 2007 set her back by affecting her mobility and speech. (I did read about this is Dr. Weese-Mayer's report - but not name or location).

Scott C. of Illinois was diagnosed in 2002 at the age of 4. He is now 10 and currently still sees Dr. Debra Weese-Mayer. I am in contact with his mom.

Mason B. of St. Louis, Missouri - he was 3 years old when diagnosed. He was just diagnosed with ROHHAD and doctors decided to place a trach.

This is Mason B!

Nikki B. from Australia, was just diagnosed at age 7, but doctors there were keeping her in the hospital. In fact, at last report, Nikki is still in the hospital (for more than 12 weeks now).

This is Nikki B!

I am finding it comforting talking to these other mom's as they have already gone through what I will surely go through and what other mom's will go through. The more of us that talk about it will bring more attention to this rare disease. We should create our own organization as it seems there isn't anything out there on this.

This syndrome is scary because no one knows about it and usually by the time you know you have it then it could be too late. I have no idea what the doctors are planning but we have to decide if we're going to Chicago or not. I have sent Haven's detailed spreadsheet below to all of her doctors and the doctors in Chicago who have placed it with her records.

I also contacted NORD - National Organization for Rare Diseases as recommended by Haven's pediatrician. This disease is so RARE that they don't even know about it. They asked me to go back to my doctor and check the spelling. So I sent them all related articles, my blog site, and Haven's article from her Endocrinologist. Now I know they know about it.

Ok.....on to the next battle of the day and more doctors to drive crazy! Even if Dr. Badgett says I'm not driving him crazy I plan to! :)