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How to win an iPad 2

Happy Prader-Willi Syndrome Awareness Month!

It is so exciting to see how many people are hosting events to celebrate our children with Prader-Willi Syndrome. Yesterday, the first two One Small Step 2011 walks took place. It is so exicitng watching all of our hard work start to become a reality.

The Foundation for Prader-Willi Research is also holding a contest to win an Apple iPad 2 in connection with the One SMALL Step event.

Here is the bulletin.....

FPWR and PWSA (USA) invite the PWS community to participate in our May Campaign for PWS Awareness month. Our One SMALL Step International event includes 47 locations world-wide and is targeted to fund phase one of the Research Plan jointly developed by the FPWR and PWSA (USA).

It’s easy AND you can win the new iPAD 2!How does it work?

1. Register and create your own page today: http://onesmallstep.fpwr.org/

2. Email your page to at least 5 people (including Tanya.johnson@fpwr.ca)

3. When Tanya receives your personal page, your name will be entered into our iPAD 2 draw

4. What’s the catch? The draw will only take place if 250 personal pages are created by May 31st.

Our PWS community is called to come together and to take one small step for PWS. Everyone is eligible, from any country, state, city or town – join one of our existing locations or sign up as a virtual walker – the choice is yours! Good luck – our lucky winner will be announced on June 1st!
The entire process takes a total of 5 minutes. To view an example of a personal page created by Tiffany in Doylestown, PA, click here: http://onesmallstep.fpwr.org/dw/users/tiffanymccauley/doylestown

Check out our video (This video is on my blog home page above the one of Ellie) from last year and find out how 10 people led 10 walks and raised $225 000!

Contact Tanya Johnson for more information: Tanya.johnson@fpwr.ca

I am proud to be one of the 10 people that led a walk last year and proud to be one of the 47 hosting a walk this year.

When will I ever need to know this?

As a 9th grade Algebra teacher I field the question, "When will I ever need to know this?" frequently. Honestly, most people will not need to know everything they learned in algebra down the road BUT what I also tell them is that you never know what you'll need to know. Life can send you down paths you never knew exisisted and into roles you never thought you would have to fill. Learn everything you can when you can because you never know where the road may lead.

Obviously having a child with PWS has lead me down a road I wasn't expecting and life has turned in a direction I couldn't have predicted. I am doing things that I never dreamed would be in my future. I never thought I would need to know so much about calories, carbs, proteins and portion sizes. I never thought I would need to know what the word hypotonic meant or how to inject growth hormone into my child. I didn't think I would need to write donation request letters or how to run a fundraiser. I certainly never thought I would have to figure out how to apply for medicaid or write a blog for that matter.

Last month I attended a conference about rare diseases of children and 'networked' with some very smart people. One of those people was James Heywood, the founder of Patients Like Me.

"PatientsLikeMe was co-founded in 2004 by three MIT engineers: brothers Benjamin and James Heywood and longtime friend Jeff Cole. Five years earlier, their brother and friend Stephen Heywood was diagnosed with ALS (Lou Gehrig’s disease) at the age of 29. The Heywood family soon began searching the world over for ideas that would extend and improve Stephen’s life. Inspired by Stephen’s experiences, the co-founders and team conceptualized and built a health data-sharing platform that we believe can transform the way patients manage their own conditions, change the way industry conducts research and improve patient care."

In about an hour I have a teleconference with James Heywood. I hope to learn more about his company and how to better push research forward for Prader-Willi Syndrome. I never thought I would be preapring for a meeting with the founder of an online company to learn more about genetics testing, biobanking and using the collection of medical information to guide pharmaceutical company decisions. Actually, I dropped biology my first semester of college as I would never need to know that stuff - ooops:)

New York State PWS Conference

I am so grateful that I have had the opportunity to help raise money to support the NIH plan to advance Prader-Willi Syndrome research. The One Small Step International Event and the Go the Extra Mile event give me a chance to help advance research by raising money for this plan that is supported by both FPWR and PWSA. I am also grateful that I can stay up to date with the support services in New York State by being a board member for my state chapter.

One month from today, April 29th and 30th, PWANY will be hosting its 21st annual conference in Albany, NY. Last year was my family's first year attending the NYS conference and it was so much fun connecting with other NYS families, actually, families from all over the country and Canada attended last year! It is such a great opportunity to make connections and learn a ton from some really experienced PWS experts, including Dr. Moris Angulo, Janalee Heinemann, MSW and B.J. Goff, Ed.D.

This year there will be some great break out sessions and a super fun dinner dance on Friday night. Last year Ellie won the biggest stuffed animal dog from the basket raffles. She was so excited that she spent the night dancing with this dog that was bigger than her!

This years breakout sessions include topics on advocacy, sleep issues, behavior issues, IEPs, Residential facilities, estate planning and sharing sessions for families to connect. There will also be a special sharing session for newly diagnosed families and a keynote speaker from OPWDD.

I hope you can make it!!

Here is the link....

www.prader-willi.org/conference

There has to be a pill for that!

If I had a nickel for every time I explained Prader-Willi Syndrome to someone and they responded with, "There has to be a pill for that - there has to be something that fixes the hunger," we would actually be able to fund a cure. It is unbelievable that there is no known cure for the hunger. Our kids battle so many obstacles but the hunger is surely the most difficult to live with and understand.

I think I do a pretty good job of taking one day at a time but every once and a while the thought of Ellie's future creeps into my thoughts and it can be unbearable at times. I have so much hope that we will find a cure for the hunger in her lifetime but I can not help but fear the time that Ellie will have to live with terrible hunger pains that I can not take away from her. Every time these thoughts creep up I immediately jump into some type of fundraising activity. I use fundraising events as a distraction. When I feel helpless against PWS I throw myself into raising money for research because it is the only thing I have control over and it is the only way I can come up with to help my angel from heaven.

It pains me think that the only thing between Ellie and a cure for her hunger is money. I refuse to let money be what keeps her from feeling full. There has to be a pill for that - I agree! Now we need to find it. It is going to take alot of research and alot of money but, hopefully, it will not take alot of time for us to be able to reply with a 'yes - there is a pill (treatment, anything please) to fix the hunger.'

Whenever someone says 'There has to be something' I tell them 'That is exactly what we think too. This is why we are working so hard to fund research.'

Do people insist there has to be a pill for the hunger when you explain PWS? How do you respond?

One Person can Make a Difference

Last night I had dinner with a group of 'special moms'. I was invited by a mom I met at the Genetic Diseases of Children Conference I went to last week who happens to live about 10 minutes from me. I was very excited to meet her because her work had inspired me right when I was first hit with Ellie's diagnosis. Two days after Ellie was diagnosed with PWS a friend of mine gave me an article about a local mom. At this time I was feeling sorry for myself and could not understand why this happened to my daughter and family. I felt that since I have my masters degree in special education and work with kids with disabilities that I would be exempt from having a child with special needs. Like I should have good karma or something.  This article highlighting Brenda, a special education teacher who lives near me who also has a child with special needs, reminded me that I was given Ellie with PWS because I could be trusted to make a difference and do right by her.  What Brenda did for her son's disorder is truly remarkable. Her work makes me believe that one person really can make a difference.

Her son is diagnosed with a disorder that is so rare that there are only about 300 known cases in the world. After alot of grieving she realized that she needed to do something to move research forward into his disorder. Her love for her son pushed her to extablish an on-line support system for the other families battling the same disorder. She also single handedly created a biobank, the result, even more astonishing. The biobank she created made it possible for researchers to isolate the gene that caused her sons condition. This information could have a major impact on cancer research!

Please read the article below that was published in our local paper on May 10, 2009 (2 days after Ellie was diagnosed with PWS).

Imagine what we could learn from Prader-Willi Syndrome.........

NEIGHBORS; Vestal mom helps families

worldwide

By: Valerie Zehl

PRESS & SUN-Bulletin: Sunday, May 10, 2009

Children share same rare syndrome

Mother's Day has a special poignancy around the Conger household. When Cliff and Brenda Conger of Vestal started a family 20 years ago, their first pregnancy was easy. Paige entered their life, a perfect baby who would grow into a beautiful daughter. As a special-ed teacher, Brenda had seen enough to concern her about bearing a child with disabilities herself. When she conceived again in her 30s, she requested an amniocentesis. It gave only good results - but soon that second pregnancy sent her into the arms of a high-risk medical team. At the end of the examinations, the only question was just how many imperfections their next child would have.

It turned out Cliffy had problems from head to toe. Geneticists put a name to his condition when  he was 3 years old: Cardio-Facio-Cutaneous Syndrome, a rare litany of medical complexities shared by only a scant handful of people - maybe 300 - in the entire world. As its name suggests, the syndrome affects the heart, face and skin, but in fact those are only the most obvious points. Mental and physical limitations are signature marks of the syndrome. Affected

children may also have heart defects, relatively large heads, downward-slanting eyes, sparse or curly hair and a host of other conditions.

Initially, Brenda and Cliff, who owns Cliff House Ski Shop in Vestal, were stunned. Cliff remembers being "like a zombie," he said later, while Brenda could do nothing but grieve for the normal child that fate stole from her. Life would never be the same. Their days became an endless circuit of specialists, grim diagnoses and painful medical procedures for Cliffy. That was the hardest part, Brenda says: watching her little boy suffer. Lightning also illuminates.

When Brenda began to understand the scarcity of research into rare diseases, she realized that in that one realm, she could make a difference. Building on a support group begun by another mother of a CFC child, she created CFC International (www. cfcsyndrome.org). At first it was dedicated to giving parents an online gathering place, but soon used those same parents as resources. The 100-plus patients span many ethnicities and countries, and, working together online, the parents compiled extensive medical data about their children to create a first-of-itskind CFC registry. It charts which symptoms affect each individual with CFC, the

location of each person and, most significantly, on which specific bits of DNA the disorder was carried, as well as other information that can be readily dispensed to researchers. In addition, the group created a bio-bank - a feat that's nothing less than astonishing to those who understand its value. "This is a mom who, to get the medical answer she needed to help her son, is doing amazing work. In their short existence (the group) has organized information and

blood samples to find the genes for CFC," says Luba Djurdjinovic, executive director of the Ferre Institute in Binghamton, which provides education and counseling on human genetics.

"If they didn't have this bio-bank, it would take a decade to find all those families and those blood samples, and if it wasn't for this work, researchers wouldn't know what genes are involved," she explains. The ramifications of the research go far beyond CFC. "It's a perfect example of how a very rare disorder, as we learn about it, gives us a glimpse into what affects all of us," she says. All the genes identified for CFC are along a pathway that occurs when cells have to replace themselves. When they replace themselves in an abnormal way, the cells

begin to accumulate and create a tumor - which means research into the genes that cause CFC has implications for cancer research, too. "As this group of parents finds 'treatment' for their children, that will help us find future cancer treatments, too," she says.

Happy Mother's Day to Brenda Conger and to all the mothers who sacrifice so much on behalf of those they love.

vzehl@gannett.com

TO LEARN MORE

Log on to www.cfcsyndrome.org to find out more about Cardio-Facio- Cutaneous Syndrome.

Genetics Diseases of Children Conference

This past week Shawn and I attended a conference hosted by the New York State Health department. The focus of this conference was on accelerating research into rare genetic disorders. There were many take aways from this conference so this topic may extend to many posts. The main reason we were so excited about attending this conference was to learn how to get Prader-Willi Syndrome onto the newborn screen in New York State.

Did you ever hear the phrase...'It is always in the last place you look'? This sums up how we came to know that Ellie has PWS. When she was born we thought we had a strong healthy little girl, for about a day, then the terrible realization that something is just not right began to sink in. Ellie was in the breech position so I had to have a c-section. She received an 8/9 apgar score and all seemed fine at birth. After screaming her lungs out when she received her first bath from the nurses she then fell asleep. She stayed asleep for days. We could not get her to wake up to eat. She could not latch on to breast feed. The OB then informed us that she had an extremely short umbilical cord. The next day the pediatrician heard a heart murmur that turned out to be a ventriculur septal defect. With these three things the pediatrician decided to run genetic testing. Horror set in....we were told we had to stay in the hospital until we could get her feeding. Luckily, a nurse brought us preemie nipples to use to bottle feed and she was able to feed with these. The doctor sent us home the next day. At our next visit a few days later we were told that the newborn screen and the genetic testing all came back fine. False Alarm...your daughter is fine. We then spent the next 2 years and 2 months having no idea why Ellie was just a little different then the other babies. After having her seen by the neonatologist, cardiologist, gastroenterologist, neurologist, geneticist and having countless blood tests and even an MRI she was finally diagnosed with benign congenital hypotonia. I looked at the neurologist and said 'so her diagnosis is that she has low muscle tone and you dont know why?' His reply, 'yes.' She was 18 months old at this time.

Of course this diagnosis was not settling well with me so I took to the internet. I studied about 500 disorders that have low muscle tone as a symptom and I kept coming back to PWS. I couldn't shake it. Ellie did not have many of the symptoms. In fact she only had a couple of them at that time - low tone and small feet but I felt in my core that this was what my daughter has been battling. I emailed a friend of mine who is a genetics counselor and asked her if she could order the test for PWS. She agreed and a month later she called me to tell me the test came back positive for Prader-Willi Syndrome. Ellie was 2 years and 2 months old - It was mother's day. We were finally able to stop looking  for a diagnosis. Why was this not discovered sooner? Why did my child have to undergo so many tests, doctors poking and prodding, so much money spent by the insurance company and us searching for a diagnosis? Because PWS is not on the newborn screen or on the general genetic test. No wonder approximately 75% of people with PWS do not know they have it!

When we heard that this conference was taking place in order investigate increasing the number of rare disorders included on the newborn screen in NYS from 45 to 450, we knew we had to be there advocating for Prader-Willi Syndrome to be one of them. Increasing diagnosis, in our opinion,will not only help save other families from going through what we went through but it would also increase diagnosis, ultimately increasing our voice and our potential funding for research and support services.

This is why we attended this conference but what we left with was much more than that. We were able to make some amazing connections with leaders of other rare disorder non-profit organizations and learn from their successes. We were humbled by the work they have done and the work that we know we need to do in order to accelerate research into PWS. Getting PWS on the newborn screen, in order to increase diagnosis being just one component of this work.

Would you have been able to know about PWS sooner if the methylation test were included on the newborn screen or general genetic test? How would that knowledge have impacted your child's care?

Here is a picture of Shawn, Ellie and Shayna with the conference key note speaker, Jim Kelly - President of Hunter's Hope foundation and former NFL quarterback and hall of famer.