FIVE BENEFITS OF PARTICIPATING IN A RESEARCH STUDY FOR A RARE DISORDER

If you were born with a rare physical difference, what could you do to help...not only yourself...but others, too?  My friend Natalie Abbott explains one thing you could do:

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Last month, I participated in what is called a natural history study at the National Institutes of Health (NIH) Clinical Center. In these studies, experts on a condition (in this case, Moebius syndrome) work together as a team to learn more about the condition for research purposes and also offer patients individual advice for their medical needs. I was the 40th person to participate in my protocol. I participated in this study to get input from some of the best doctors in the world, but the benefits went far beyond helping myself!
1. Everyone is an expert! As a person with a very rare disorder, it’s frustrating to encounter a doctor who not only has never had another patient with your disorder… but has never even heard of it! It was amazing to have every doctor I encountered be familiar with Moebius syndrome… and beyond that, they were experts in their fields!

Natalie and her service dog at the National Institutes of Health Clinical Center

2. How many appointments was that, again? I had 23 different appointments over five days. Can you imagine trying to schedule that many different appointments at my HMO? I can’t! The sheer number of doctors and fellows I saw was astounding!
3. I got to go to an amazing place. Research happens in many interesting places — I ended up at the amazing NIH Clinical Center to participate in the natural history study for Moebius syndrome. It was an incredible environment to be in!
4. Sometimes I got paid! Grants enable patients to participate in research without an undue financial burden — and sometimes even offer a financial compensation for time spent participating! I couldn’t have participated without the assistance.
5. You learn all about yourself and your medical conditions. With a complicated medical diagnosis and history, there are things that somehow get lost along the way; for example, apparently my legs are very different lengths — who knew! A fresh set of eyes on your condition can also help you figure things out that other doctors might have missed.
For information on some of the research opportunities currently available through the NIH, see www.clinicaltrials.gov.

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FIVE THINGS YOU NEED TO KNOW ABOUT PEOPLE WHO LOOK DIFFERENT THAN YOU

By my good friend Kelsey Ferrill.  Great stuff here!  Read and learn:

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As someone with a visible difference, I wish I could say society is nonjudgmental and unprejudiced. But alas, I cannot. For the most part, I don’t have trouble when I go out in public. Maybe I’ve just grown to be used to it, but I don’t notice a lot of staring or pointing. Sometimes people (mostly kids) do a double take, but I haven’t experienced much other than that.

Of course, there are the incidents that stick out in my mind. One time, a random person came up to me at the mall and asked if there was something wrong with me and why I looked this way. There was another time when I working at a retail store, and a kid said, “I have no idea what she’s saying.” Lastly, one of my friends with Moebius syndrome called a kid “really ugly” on Facebook. These things are not OK.

So here’s what I want society to know about anyone with any kind of difference:

1. We know when you’re pointing at us or making comments about us.

We can see you doing double takes. It makes us feel uncomfortable, and it draws attention to what we generally don’t want to draw attention to: our difference. If you really need to know why I look the way I do, please ask. I like to educate people about Moebius syndrome. I even wear a Moebius syndrome bracelet.

2. Even if you’re trying to be helpful, you could be drawing attention to us, which can be embarrassing.

During my first semester of college, one of my instructors printed out the slides he was going to show the class for me and only me. At the beginning of class, he came right over to my desk in front of everyone (who I didn’t know well at the time) and gave me a huge stack of printed out slides. They were printed in a huge font. He was definitely trying to be helpful, and I appreciated that. But it was so humiliating! I wish he just would’ve asked me beforehand if I needed visual accommodation, which I didn’t.

3. Don’t assume we need any help, especially if we haven’t asked for it.

This kind of goes hand in hand with my previous point. Again, if we’re singled out in front of others, it can be quite humiliating. Please ask us in private if we require any kind of help. Also, please don’t assume that just because we look different, you have to talk slower and louder to us. Just because we might look a little different doesn’t always mean we have cognitive disabilities as well.

4. If your kids have questions about our appearance, don’t just shush them to avoid embarrassing us.

If they say something inappropriate within earshot, tell them it’s not nice to say things like that. Then explain why you shouldn’t judge people based on their differences. If you don’t explain to kids that some people are different, they won’t learn. Teach them to be tolerant and compassionate.

5. There is so much more to a person than their appearance.

We are so much more than what we look like. We all have dreams, goals, families and friends. We all seek tolerance and acceptance. We’re all just trying to find our place in this world like everyone else. Judging someone by their looks is like judging a book by its cover. The cover may not be the most beautiful or extravagant, but if you pass it up because of that, you might miss out on a really amazing book. People are like that, too. You can’t tell who someone is just by looking at them. Give everyone a fair chance.

Don’t be afraid to talk to someone who is a little different from you. Even if it’s just saying hello, it can make someone’s day to know you saw them just as another human being, not as someone different.

 

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MOEBIUS SYNDROME FOUNDATION: NEW SCHOLARSHIP PROGRAM

Those of you with Moebius who are either thinking about attending college, or are already are doing so; plus those Moebius parents out there whose kiddos will be attending college--you all want to take careful note of this.  We are very proud to be rolling out this program:

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The Moebius Syndrome Foundation will award three (3) scholarships of $2,000 each, to individuals who have Moebius syndrome and are pursuing post secondary education in the Fall of 2016.  This includes education at colleges, universities, or other forms of post secondary education and will be paid directly to the institution.

[There is a link on the MSF website page for the scholarship that will allow you to download the application form. Go to the link I've included above.]

You will want to submit the form with:

A one page essay on why you should receive this scholarship.

2 letters of reference from teachers, employers, etc.

A transcript from your high school or college/university/post secondary institution.

Submit essay, letters of reference and all written correspondence in one combined Microsoft Word File to scholarship@moebiussyndrome.org. The transcripts should be sent as a PDF file. Completed applications are due by midnight EST on April 30, 2016. Only complete applications will be considered.

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Good luck, applicants; and we look forward to helping, in the years to come, many young people with Moebius as they pursue their dreams of a college degree and the career they wish to pursue.

MOEBIUS SYNDROME REMAINS IN THE NEWS!

More Rare Disease Day happenings!  Read on about Ceridwen Hughes and a special photo project:

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When you look at this child what do you see? That's the question photographer Ceridwen Hughes is posing with 'The Rare Project'.

Hughes is sharing her project to mark the ninth international Rare Disease Day on Monday 29 February.

It is her hope that as well as raising awareness about rare diseases and their impact on children's lives, the project will also serve as a reminder that people with rare diseases are not defined by the diagnosis.

'The Rare Project' includes a shots of Hughes own son Isaac, who has Moebius Syndrome, a neurological disorder that causes facial paralysis.

"People often make judgments based on what they expect him to be able to do and sometimes they do not take the time to get to know the real child," she said.
"Isaac is funny, determined, bright and really caring. Those who do not see beyond his condition are poorer for it."

Isaac was diagnosed with Moebius Syndrome when he was eight months old and at that time Hughes said she was told nothing more than the name of his condition. She received no further information or support and she felt very isolated.

Hughes set up the not-for-profit organisation Same But Different to raise awareness of disability and counteract prejudice through art ventures such as 'The Rare Project'.
Every photo in 'The Rare Project' features a child with a rare condition and is accompanied by background information from their family, so the audience can learn not just about the condition, but about the person it is affecting too.

"I want to try to break down some of the barriers that exist for those with disabilities and rare diseases in particular," Hughes explained.
"Often the person taking part in the project has never had a portrait taken before because they may be nervous or have challenging behavior.

"It does not matter what condition each person has, they are ultimately still people with their own likes and dislikes and they deserve to have a voice."
Hughes' hope is that the project will encourage people take the time to stop and think about how they perceive those with disabilities or rare diseases.

Some of the parents of the children involved in the project have also spoken out about why they felt it was important to be involved.
The parents of a girl called Nina - who has an abnormality in her Adam 17 gene and is thought to be the only known registered case in the medical literature - explained:

"It is important to reach as many people as possible regarding rare conditions, so that it no longer becomes a taboo subject, but something that is embraced, explored and understood by the public, leading to greater acceptance of the need to accommodate those who have rare conditions, with empathy, humanity and more resources to cover their special needs."

The parents of a boy called Alex, who has an inherited metabolic disorder called Glutaric Aciduria Type 1, added: "We wanted to take part in 'The Rare Project' because raising awareness and understanding of rare diseases is so important for us because like every family in the land, all we want is the best for our children.

"We want our son to be happy, to have friends and to have opportunities to fulfil his potential as much as he possibly can. This will only happen once more people are better informed about rare diseases and can be more understanding about those who are different from the 'norm'."