Submit art by Tuesday, February 7, 2012 at 5 pm PT

We accept art in the following forms:

• Painting
• Photography
• Mixed Media
• Collages
• Pottery
• Sculptures

Other staggering statistics:

• Estimated 350 million people worldwide affected by rare disease
• Only 5% of rare diseases have treatments; there are no cures
• Over 50% of rare diseases have no foundations, advocacy groups or community support
• 1 in 10 Americans is affected by RARE disease, that’s over 30 million people
• 30 million Americans is more than the total number of people living worldwide with cancer (28 million according to the Livestrong Foundation)

Can you please help us raise awareness to those affected by rare disease?

• How have you, your family or a friend been affected by rare disease? Submit your story along with a photo via the form on our Facebook page. We will be promoting the stories on our RARE blog everyday during February leading up to World Rare Disease day. Receive a “Care about RARE” car sticker for submitting your story.
• Are you a jewelry designer, school group or just a crafty person? Make and donate a bracelet to our 7000 Bracelets campaign and bring hope to a child/family living with rare. If you have a rare disease, please sign up to receive one of the bracelets.
• Or, help us assemble blue demin ribbons for World Rare Disease day. We will send you a kit with all materials included! Email Amy at amyg@rareproject.org.
  
• Are you a blogger? Join our rare disease blog hop in January & February! Stay tuned for details around the start of the New Year.

Do you have other ideas on how to show support for the rare disease community?
Post on Facebook at Facebook/globalgenesproject
Tweet with us via @GlobalGenes #1Mil4RARE

The mission of our Global Genes Project campaign is to increase awareness for the rare community. Help us bring together 1 Million for RARE on our Facebook page. Please like our page and share with a friend.

At the Gwendolyn Strong Foundation, we want as many people as possible to know that 1 in 40 people unknowingly carry a severe mutation in the SMA gene. Getting tested before pregnancy is one of the best ways to make sure that your child does not fall victim to a possibly lethal genetic disease.

And the least expensive way to do that today is with the Universal Genetic Test.

Counsyl has been gracious enough to donate five Universal Genetic Tests to the Gwendolyn Strong Foundation in recognition of August as SMA Awareness month. They have been building up a reputation as a patron of many rare disease foundations, and we believe wholeheartedly in their mission: to make preventive carrier testing accessible to everyone. We believe that every woman has the right to know her own genetic information, and the right to act on this knowledge to make informed, educated reproductive decisions about her children and her family.  See More

This program recognizes academic achievement in the lysosomal storage disease (LSD) community. High-school graduates or GED credential recipients who have been diagnosed with an LSD are eligible to apply. A $5000 scholarship will awarded for the 2011-2012 school year. The application deadline is June 15.  Help spread the word!

For more information and to register for ACES head over to:  www.shireaces.com.

Ian has Russell-Silver syndrome (RSS), a form of primordial dwarfism that affects 1 in 100,000 babies, according to the National Institutes of Health.

Without growth-hormone treatment, boys will only reach an average height of about 5 feet 1 inch, and girls will only grow to about 4 feet 10 inches.

“Clothing is a huge challenge,” mother Heather Earley of Libertyville, Ill. said, “This past summer, even at the age of 7, Ian could wear certain size 4T shorts. We have to buy him 6-slim jeans due to his height. But they still need to be cinched at the waist.”

Ian was so tiny that he needed pillows and head insets in strollers and car seats. And well beyond infancy, Ian had to sit rear facing in the car seat because of the weight requirement.

In about 40 percent of the cases, Russell-Silver results from the abnormal regulation of certain genes that control growth. Severe long-standing placental insufficiency can also lead to severe intrauterine growth deficiency that resembles RSS.

Children such as Ian struggle not only with the mechanics of the physical world but with the social stigma that comes with being unusually small.

His mother, a divorced mother of two, fought to get the right diagnosis for her son, one that often eludes pediatricians. She writes about the challenges of living with the syndrome on her blog,Russell-Silver Advocate.

“This child has the most amazing charisma of anyone I have met in my life,” Earley, 43, said. “He has friends all over the place. When he was 4 and looked like 2, all his friends wanted to pick him up like he was a baby. Even to this day, I want to pick him up, he’s so cute and cuddly.

“But he knows he is different and knows he is small,” she said. “He has some anger issues because his brother is only a year and a half older and three times his size. He is an adorable and loving child but he hates being different.”

RSS, sometimes referred to as Thumbelina syndrome because of the fragile, doll-like stature of the children, is characterized by slow body growth, poor muscle tone and digestive problems, such as reflux and constipation.

Their heads, however, are unusually large, compared to the rest of the body.

“Try putting a 12-month shirt over a 3-year-old head,” said Earley, half joking that she has considered approaching the Gap about clothing for special needs children like Ian.

Ian Earley, 3, with his older and bigger brother Alexander, who was 5.

Other than their size, “they pretty much look like other members of the family,” said Dr. John Graham, director of clinical genetics and dymorphology at Cedars Sinai Medical Center in Los Angeles. But the small children have diminished fat and glycogen storage and many cannot break down sugar.

“They are underweight, even as much as people try to over-feed them,” he said. “They can go for long periods without eating.”

RSS is a set of clinical features that results in severe prenatal onset growth deficiency that affects the body, but not the head.

In less than half of all cases, the condition begins shortly after conception.

RSS can be seen in identical twins, although it only affects one of the fetuses because twinning can disrupt the normal gene regulation. The association with twinning may not be identified because in 10 percent of identical twins, one twin dies early in gestation.

Increases in RSS can also be seen with the use of assisted reproduction techniques because the procedures can also disrupt gene regulation.

The syndrome is not inherited and there is no demonstrated cause in about half the cases, Graham said.

Many of the children suffer from bouts of hypoglycemia. Some have a tendency as adults to develop Type 2 diabetes.

“They are programmed [in the fetus] to grow and survive on much less nutrition than anyone else,” Graham said. “Their metabolism is set to run on a leaner fuel mixture.”

Graham estimates that the syndrome is under-diagnosed and as many as 1 in 10,000 children may have the condition.

Children with Russell-Silver Syndrome Judged Unfairly

But the biggest challenge is social.

“People are extremely judgmental,” Earley said. “We as society talk about being big: ‘Look how big you are,’ ‘What a big boy,’ but Ian is not big and he never will be big.

“They have no clue how difficult it is. When you can’t get a child to eat, it’s very scary,” she said. “You are responsible for that child, to love and nurture. … It becomes emotionally exhausting.”

And because the syndrome is so rare, children often go undiagnosed.

“It’s unknown, even in the medical community,” said Mary Andrews, founder and CEO of the Magic Foundation, which supports families with growth disorders. “Unfortunately, it’s tough to diagnose.”

But the good news is that many of these children can live normal lives.

The Magic Foundation supports families such as the Earleys with new research and connects them to other families for support.

“We make sure they know every resource available for the children,” Andrews said. “When a family calls to say they have a child with Russell-Silver syndrome, we put them on the phone and refer them to a division consultant — someone who has a child with Russell-Silver — so they can talk one-on-one.”

As for Ian, he is now 42 pounds and 3½ feet tall;- still in the fifth percentile for weight but in 40th percentile for height.

“Society, as a whole, needs to remember that they might look different but they are not,” said Heather Earley, who has great hope for her son’s future. “We all grow in our own time.”

To learn more about Russell-Silver syndrome, go to the Magic Foundation or the Children’s Rare Disease Network or Russell-Silver Support.

http://abcnews.go.com/Health/thumbelina-kids-born-russell-silver-syndrome-struggle-fit/story?id=12531242

At eight years of age, Tommy Glatzmayer is two years younger than his sister Melanie, but he has always been protective of her.
Melanie was born with a condition that sets her apart from other kids her age. Born with Cornelia de Lange Syndrome (CdLS), a congenital condition, Melanie has had several operations in her short life and has had to overcome developmental delays, hearing abnormalities and vision problems.

“In grade one, Tommy came home one day and cried because his friends were making fun of Melanie,” said the children’s mother Nathalie Wendling and former Bloor West Village resident. “He decided he wanted to write a book so his friends would understand his sister better.”

The self-published photo-illustrated book called, ‘Melanie and Tommy Have Two Pet Rats and One Syndrome,’ was released in August. It has since sold 3,000 copies and has been garnering rave reviews.

On a quest to find more kids out there with CdLS, Wendling, her son and daughter have been visiting schools throughout Ottawa and the Greater Toronto Area speaking to students and doing book readings. They’ll be coming to Chapters at the corner of Runnymede Road and Bloor Street West, Saturday, Jan. 29 from 12:30 to 2:30 p.m.

For three years, Wendling and her husband John Glatzmayer had no idea what was ailing their eldest daughter, Melanie – nor did the countless doctors they took her to see, but the couple certainly knew something was horribly wrong.

Born in April of 2000, Melanie weighed just five-and-a-half pounds and within a week was choking as many as three times a day. Her condition only worsened when she and her mother were sent home from the hospital. Sleeping only for half-hour intervals, Melanie would choke until Wendling propped her up into a sitting position. Her crying bouts lasted as long as 36-hours. Afterward, she would vomit before the cycle would begin again.

Wendling and her husband were desperate. They gave their baby several different kinds of milk, 25 types of pacifiers, tried dozens of sleeping positions, countless eating strategies and various medications, including antacids, but to no avail.

The former Bloor West Village residents, who now reside in Manotick, near Ottawa, would rush their baby gasping for breath to the hospital time after time. When Melanie was a mere four months old she stopped eating and drinking entirely. She had made the connection that eating and drinking caused her such pain and grief that she gave up, said Wendling.

Doctors inserted a feeding tube through her nose and into her stomach. Her team of physicians agreed to try a different strategy called Endoscopic fundoplication – a surgical method used typically for treating gastro-esophageal reflux disease. It turned out Melanie’s stomach was the size of a walnut, but the opening at the top of the stomach was so large it wasn’t keeping any food down. Melanie had not been choking on saliva, it was undigested food.

Three years after she was born, Melanie’s parents finally got a diagnosis. They daughter this rrare condition CdLS.

“There are only 100 known cases in Canada,” said Wendling on the phone from her Ottawa area home, “but researchers estimate one in 10,000 people live without diagnosis.”

Its common characteristics include a low birth weight, slow growth, small stature, and small head size. Typical facial features include thin eyebrows, which frequently meet at the midline, long eyelashes, short upturned nose and thin, down-turned lips.

As for Melanie, her characteristics were all really mild, said Wendling, making it difficult to pin-point the syndrome. Another common aspect is absent or delayed speech, hearing abnormalities and vision problems, which Melanie’s parents had corrected with hearing aids and glasses.

The family brings their pet rats, the co-stars of the book, to signings and readings. Wendling said her husband kept rats as pets when he was growing up.

“When we got married, he convinced me to get rats. I was terrified at first,” said Wendling laughing.

However, they are smart animals and have been therapeutic for Melanie, who holds her pet rat every night and every morning. If she has a tantrum, it’s her pet rat who calms her down. When Melanie is sick, the pet rat will watch TV with her all afternoon.

Tommy and Melanie will make an appearance at Taddle Creek Montessori, 39 Spadina, at 1 p.m. Thursday, Jan. 27 as well.

Family shares story of living with a rare condition.

The Dare To Hope Foundation distributes toys to help brighten the day of children with rare, complex, critical, chronic and undiagnosed medical conditions during treatment, hospitalization, diagnosis and difficult times, as well as for fragile children who are home-bound or hospice-bound.

Toys may also be distributed to families of children with complex medical conditions who require assistance during holidays, birthdays or any other special times to celebrate in their childrens’ lives.

If you are a family wanting to request a toy, download the application below and follow directions to apply. Applications will only be accepted from the legal guardian of the child.

http://dare-to-hope.org/?page_id=717

I remember when Ian was younger, the words of judgement I would hear from those who did not understand my son’s inability to eat was at times baffling. Of course, the countless occupational and feeding therapists understood his need to develop volitional feedings – but friends, family and mostly strangers – had their own inaccurate opinions. One parent said….”oh, leave him with me and I’ll fatten him up”. A family member once said, “so what if he has a high palate and an overbite, he’s still eating – you just have to feed him more.” And even strangers would give me the “look” at the park – wondering why my child was 15-20 pounds lighter than their child of the same age.

Fortunately, Ian’s pediatrician, gastroenterologist, and endocrinologist were understanding of his inability to have significant growth. Although it is a rare disease and there was much to be understood – I was fortunate in that the well-reknowned physicians were willing to work with me, cooperate and work as a team to give Ian the best care we knew how to give him. Unfortunately, many families of RSS/SGA children do not have the luxury of finding physicians who are so dedicated and/or open to learning more about Russell-Silver Syndrome. There is plenty of information out there to learn from – but, much of it is inaccurate. And, like any disease – each child has their own set of circumstances and biological/genetic make-up that makes their issues different from the rest. Add “rare” to their disease – and things get even more complicated.

When visiting the convention and/or during my advocacy work at Capital Hill – I learned a lot from parents about how they managed to deal with outsiders on the topic of their child’s rare disease. Many of them, myself included – realized that unless you have “experienced” this or any other rare disease – other’s judgements and conjecture are purely inaccurate and worthless. It’s a pity really. Many of us feel the need to defend ourselves to individuals who make harsh and rash statements. “of course I feed my child”….or, “but he needs growth hormone to grow”….or, “well, his gi doc sais he needed the mickey-button – not me….he IS the physician”. In the beginning – I found people’s harsh statements very hurtful. Over time, I have learned to ignore these individuals – well, to the best of my ability.

Someone recently felt the need to tell me I used my children’s illness to gain attention for myself – and then they had the nerve to tell me I wasn’t a true Christian. Yes. Believe it or not – this person was incredibly brash and hurtful. What I found most interesting – is that this individual was uanble to admit to their identity but hid behind a fake e-mail address. They obviously “think they” know me – but, were unwilling to tell me who they were. I also found it amusing that they found the time to conjecture and perceive a situation of which they do not have all of the facts. And….they truly do not know me.

See, what I try to encourage other parents – as an example of the above – is that those who are most fearful of situations for which they have no understanding (such as a rare disease), they belittle others due to their own inadequacies. It’s easy to tell someone else they are doing something wrong – then to focus on themselves and their own issues. And, what I pity the most – is when an individual tries to tell others how to live their life as a Christian. These are the individuals lashing out and making harsh statements about others….certainly not Christian like. Christian’s do not judge and therefore should not speculate or criticize another person’s actions or conjecture about a situation that is unbeknownst to them. My child is unable to eat for a REASON – and “you” may not understand that reason – but, that doesn’t mean is isn’t real. And honestly, if my blogs touch just “one” person in life to make them feel better, then I have done my job.

I had a parent once call me and tell me she was getting harsh judgement from someone at her church about not sending her child to school and keeping her child home for homeschooling. What that person from church did not understand – is that our children are so unique – in that they are very susceptible to illness. It’s hard to explain that it has nothing to do with a weakened immune system – but, that their delicate systems and bodies can not fight the infection as well as others. NO – it is not a weakened system – it is a culmination of many factors that end up putting our sick child in the hospital. Again, without understanding the full scope of a child with a rare disease – conjecture does nothing but harm the individual who is making unfair statements.

How? Each of us (families) have a bond and understanding between us – that we are not alone. I encourage families with special needs and/or children with chronic and rare disease to reach out to each other. Find those support groups. Check out Children’s Rare Disease Network, The MAGIC Foundation, Medpedia and others for support, comfort, and information about your child’s disease. And, do not feel afraid to educate others. Do not defend yourself, but open your arms and share your knowledge with a loving heart.

My wish for all of you…..Happy New Year and God Bless.