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.

Oxytocin and PWS

At the most recent Foundation for Prader-Willi Research one of the presenters spoke about people with PWS having elevated oxytocin levels, a hormone that is associated with breastfeeding and bonding between mother and baby. It is often referred to as the "love hormone."

When I learned about this research at the FPWR conference it explained alot about Ellie. She loves animals and babies so much I call her my little mama bear. She is very concerned and tuned into other people's emotions and worries if she thinks someone is sad or hurt. She is so gentle and loving with her cat, dog and little sister.

Although these oxytocin levels being high may cause unwanted side effects, I do love how compassionate my sweet little 4 year old is for people and animals. This is one PWS side effect that I can appreciate. Below is an article about 12 year old Megan Deines, with PWS, who shows her compassion for animals every year on her birthday.

Do you find that your child is exceptionally compassionate? Does he/she seem to connect and bond with animals and babies easily?



by Maggie O'Mara

See all 11 photos »

BOISE -- Giving comes easily for one 12-year-old girl in Meridian.
For the last four years, Megan Deines has asked for pet food donations instead of presents at her birthday parties. Why? She just loves animals and wants to help local shelters."I'm really into animals and I love them ever since I was little," said Megan Deines as she unloaded pounds of pet food at the Meridian Valley Humane Society. Megan has quite at few pets herself.  She has two bunnies, two dogs, and three cats.
At her last birthday party, she asked for dog and cat food. "The animals and shelters really need help," said Megan.  "I would get toys that I didn't need." She's been asking for shelter donations instead of birthday gifts at her parties for four years now. "I think her friends are pretty impressed that she does this because they can't imagine themselves giving up birthday presents," said Megan's mom, Laurie Deines. Megan has Prader Willi syndrome, a rare genetic problem that causes her to never feel full. "They always feel hungry and they would always like too much to eat," said Laurie.  "They have to live with very restricted diets, and constant supervision." Instead of focusing on food, Megan focuses on animals and helping them.
"She's always had this extraordinary connection with her pets," Laurie said.  "I think it just comes naturally to her." Megan also donated cash to the shelter. "I just love this, the idea that a child would give up birthday gifts to take care of animals in need," said Connie Petersen at the Meridian Valley Humane Society.  "I think it's just amazing that she would even consider doing that." "I don't think there is any way we can get her to stop doing this, I think this will be a yearly thing," said Megan's mom.
Young Girl Hero to Pets in Need

Idaho's NewsChannel 7

Posted on March 7, 2011 at 8:08 AM

Mother Warrior

Today Keegan posted a piece about The Power of PWS Moms. This article brought me back to a conversation I had with a woman who lives in my neighborhood. She was organizing the annual neighborhood garage sale. I had never met her before but I called her and explained that my daughter has PWS and I am hosting a fundraiser. I asked if I could put my Go the Extra Mile fundraiser flyer on the back of her garage sale map. She was more than happy to help and invited me over to her house to discuss further.

While I was there I explained what Prader-Willi Syndrome is and how it is, and could, impact our family. She then told me about her infant son that died 20 years ago after receiving his 2 month immunizations. He suffered a fatal allergic reaction. After she worked through her grief she began lobbying for increased awareness of these side effects even appearing on 20/20 and testifying for congress to discuss the topic.

She then looked at me and said something that has stuck with me ever since....She said "We are Mother Warriors....you are a mother warrior for your daughter."

When we received Ellie's diagnosis almost 2 years ago I vowed that I would do everything in my power to make Ellie's life the best it could possibly be. To me, this means raising money for research. I want to get as much money to the researchers as fast as possible so they can research faster. I became a mother warrior the moment she received her diagnosis. I am engaged in a battle against the effects of Prader-Willi Syndrome.

I am Ellie's mother warrior....I always will be and will keep fighting for her independence by raising money. I am not a scientist so I can't find the cure myself so the next best thing, in my opinion, is to do as much as I can to encourage researchers to dig deeper into this disorder until a cure is uncovered.

(Shawn and I after our first run/walk: Such a proud moment for us)

I choose to raise money as my way of working through this diagnosis, I choose to contribute to her future, "I choose to believe!"

How do you deal with the diagnosis? How do you express yourself as a Mother Warrior? (Or father warrior:))

Celebrity PWS mom??

Shawn and I have often said that we need a celebrity in the pws 'world.' Not that we want a celebrity to have a child with PWS but it would be nice to have someone in the public eye get the word out there to increase awareness and fundraising efforts. Today I came across this article about a woman named Katie Price from the UK. The article states that she may have signed a movie deal with Paramount Pictures to film her life story. It states that she has a son with prader-willi syndrome.

...part of the article can be found below....

Does anyone know who this is??? Do you think having a 'celebrity' connected to Prader-Willi Syndrome could help further our cause? If so, how do you think it would be helpful?

Katie Price and Harvey have some Mummy and Me time in LA as she prepares to sign up for a movie about her life

By Daily Mail Reporter
Last updated at 8:52 AM on 28th February 2011

She suddenly removed her two youngest children Junior and Princess from the public eye late last year.
But those rules don't apply to Katie Price's eldest son Harvey who has tagged along with his mother on a trip to Los Angeles.

The eight-year-old, who Price said in an interview this week is exempt from being hidden from the media, accompanied the model to a Sunset Tan salon before the pair picked up food at Mel's Drive Inn.

Quality time: Katie Price picked up some food with her son Harvey and brother Daniel at Mel's Drive Inn in Beverly Hills

Katie told the Evening Standard that she didn't want to include her children with Peter Andre on her latest show because they were getting to the age where they understood what fame is.

The 32-year-old said: 'They’re at an age now where Junior is like, "Mummy, I am famous. Kids at school say I am not famous but I am," and I thought, from those remarks, that it’s time to take them out.

But she does not mind Harvey, who has a condition called septo-optic dysplasia as well as autism and Prader-Willi syndrome , being photographed or filmed because apparently, 'He has no idea about any of it.'

Read more: http://www.dailymail.co.uk/tvshowbiz/article-1361239/Katie-Price-Harvey-spend-time-LA-prepares-sign-life-movie.html#ixzz1FgnsXDJd

http://www.dailymail.co.uk/tvshowbiz/article-1361239/Katie-Price-Harvey-spend-time-LA-prepares-sign-life-movie.html

PWS Siblings

As some of you know, we welcomed our second child into our family almost 4 months ago. Even before Shayna was born I have worried about how having a sister with PWS would impact her life. I like to think it will build character in her and we hope that we will raise her to be secure in herself and in her love for her sister.

I know many people bring their families to Florida to see Dr. Miller. When we called about a year and half ago to be a part of her research study we were told that it was a sibling study. At that time Ellie didn't have a sibling so we couldn't participate. Now that Shayna is here we are thinking of calling again - mainly because we really want to meet Dr. Miller and for her to meet Ellie.

Have you participated in this study? How invasive is it on the children? What is she researching? Do you believe it is important for PWS families to participate in research studies?

Making Connections

Yesterday we started promoting our latest fundraiser. Local kid's musician, Johnny Only, has offered to donate 75% of his on-line sales for the next 2 weeks to FPWR. This is so generous of him and a great opportunity to raise money for FPWR. To advertise, we printed our flyers and gave them out to the parents at Ellie's pre-school. Today one of her classmate's mom called me and was excited about the funsraiser and then wanted to know more about PWS. We then spent 45 minutes talking about our children and how her son has autism but she is not sure if there is maybe something more going on. After the call I realized that this fundraiser was not only a great way to raise money but also a great way to build awareness about PWS and connect with other families with children with special needs. Since Ellie's diagnosis I have not only been amazed at the connections I have made with other PWS families but also with other families with children who have all kinds of special needs.  We were a little nervous about putting out the flyers because now all of the parents would know that Ellie has PWS. We are not in any way ashamed of her diagnosis but it has been nice for us to go to birthday parties and Ellie could just be Ellie - not the kid with PWS. Now everyone knows and her and our ananimity is now gone. But with that comes awareness, understanding and deeper connections with the other parents.

I guess what better way to explain PWS than through a fundraiser :)

Have you ever organized a fundraiser? Did you find that your circle of friends grew as a result? How do you handle building awareness and fundraising without 'exploiting' your child's diagnosis?

Carnitine and CoQ10 Study

I started this blog to not only document our fundraising efforts but to think about various research that is taking place and hear what all of you think about it too. Research into PWS is the whole reason behind all of these efforts....we are so hopeful that if we all band together and fund the research that sooner rather than later there will be solutions to at least some of our kids struggles. For me, I would be happy with a cure to the hunger if nothing else - but I will take whatever I can get :)

I saw this article posted today and I read through it - a few times. It took me a few read throughs to feel like I understood the findings (I think). I want to understand everything about my daughter's condition and the best ways to help her but this type of material is not natural for me. Hoping all of you can help add to my understanding.

Does this mean that carnitine and CoQ10 supplements may not have an impact on our kids?

I don't have Ellie on Carnitine or CoQ10 supplements. Do you have your children on them? Do you think it is helpful? How so?


Abstract
Carnitine deficiency or coenzyme Q10 (CoQ10) deficiency may present with
hypotonia, poor growth, easy fatigability, and apnea. This constellation of
findings can also be seen in individuals with Prader-Willi syndrome (PWS).
Animal studies indicate that increased fat mass due to obesity negatively
correlates with both carnitine and CoQ10 levels in skeletal muscle. Increased
body fat and obesity are characteristic of individuals with PWS. Currently,
there is no documentation of serum carnitine levels, and only one study
investigating plasma CoQ10 levels, in individuals with PWS. Fasting serum
carnitine and plasma CoQ10 levels were measured in 40 individuals with
molecularly confirmed PWS (ages 1-27 years; 19 F/21 M), 11 individuals with
early-onset morbid obesity of unknown etiology (ages 3-13 years; 5 F/6 M), and
35 control siblings from both groups (ages 1-24 years; 19 F/16 M). There were no
significant differences among the three groups in either total carnitine, free
carnitine, or CoQ10 levels. However, individuals with PWS had higher serum
levels of carnitine esters (P = 0.013) and higher ester-to-free
carnitine ratios (P = 0.0096) than controls suggesting a possible
underlying impairment of peripheral carnitine utilization and mitochondrial
energy metabolism in some individuals with PWS. Serum sampling identified no
significant differences in total and free carnitine or CoQ10 levels between
individuals with PWS, obese individuals, and sibling control groups. Muscle
biopsy or measurement in leukocytes or cultured skin fibroblasts could be a
better method to identify abnormalities in carnitine and CoQ10 metabolism in
individuals with PWS than peripheral blood sampling. © 2011 Wiley-Liss, Inc.

Copyright © 2011 Wiley-Liss, Inc.

Here is the link.....

http://www.ncbi.nlm.nih.gov/pubmed/21337696