Latest
Lawmaker supports Phelan Lucky campaign, families

 

Ontario Premier Kathleen Wynne helps raise


awareness of Phelan-McDermid Syndrome


March 13, 2017 -- Toronto: Ontario Premier Kathleen Wynne today is taking part in a worldwide effort to raise awareness of Phelan-McDermid Syndrome. Ms. Wynne will be wearing a “Phelan Lucky” T-shirt in solidarity with thousands of others, including dozens in Canada, in support of those affected by the rare genetic disorder.


"By wearing the 'Phelan Lucky' T-shirt, I hope to help raise awareness of Phelan-McDermid Syndrome and support research that will help people living with this rare genetic disorder," Wynne said. "I want to thank the Phelan-McDermid Syndrome Foundation Canada for all the great work they do for those affected by Phalen McDermid and their families. There is much work to be done to find a cure but with your dedication, compassion and advocacy we are on our way."


The Phelan McDermid Syndrome Foundation is an international volunteer group that raises awareness of the syndrome, offers family support and funds research into finding a cause, and ultimately a cure, for PMS. Greater awareness by supporters such as Ms. Wynne means more families and medical professionals will learn about the syndrome, and children and adults diagnosed can receive the help they require.


A group of Canadian parents who have children with Phelan-McDermid Syndrome are setting up the Phelan-McDermid Syndrome Foundation of Canada to support families, raise awareness and push research into finding the Syndrome’s cause and discover ways to minimize its impact.  There are 62 known cases in Canada.


The cause of Phelan-McDermid Syndrome is a missing or compromised portion of chromosome 22.  The Syndrome is named after Dr. Heather McDermid of the University of Alberta, who did key chromosomal research, and Dr. Katy Phelan of the United States, who first identified the condition in the late 1980s.  The Syndrome affects a patient’s physical and mental development. Those diagnosed lack functional language abilities, and some may experience seizures.


The number of cases worldwide is unknown, but as of November 2016, there were approximately 1,400 diagnosed members of the Phelan-McDermid Syndrome Foundation around the world.  Due to the relatively recent discovery of this syndrome, significant work remains to be done in terms of understanding the condition and developing appropriate treatments to improve the quality of life of those affected.

 


 

Here's what you need to explain Giving Challenge to your supporters

Below is a letter you can send out to your family and friends asking them to participate in the 2015 Giving Challenge. You can customize this in any way you want, add a personal message, tell them about your son or daughter or add a photo. A personal touch can have a huge impact. You can contact Jennifer Randolph at This e-mail address is being protected from spambots. You need JavaScript enabled to view it , Susan Lomas at This e-mail address is being protected from spambots. You need JavaScript enabled to view it or Nick Assendelft This e-mail address is being protected from spambots. You need JavaScript enabled to view it us for advice.


Hello friends and family,


The Toronto Maple Leafs have done it in hockey. The Chicago Bulls in basketball and the Williams sisters have done it at Wimbledon. Now, it’s the Phelan-McDermid Syndrome Foundation’s turn to do the same. Next month is the Giving Challenge. We were the champions the past two years. With your help we can threepeat and join a venerable list of the all-time best teams.


Many of you are familiar with the Giving Challenge. For those who aren’t it is a 24-hour fund-raising opportunity for non-profits from none to noon Sept. 1-2 through the Sarasota Foundation. We’re the reigning champions, coming in first in 2013 and 2014. Now, let’s score the hat trick!


We’re asking you Rise to the Challenge and tap your network of family, friends and acquaintances. Ask them to mark the September dates on their calendar. Then, encourage them to donate whatever they can at www.givingpartnerchallenge.org on Sept. 1-2. (A link that will take them directly to the PMS page will be provided on Sept. 1.)


We can win in a number of ways: The more people who donate the better chance we will have to qualify for incentive grants. For example, if our Foundation has the most new donors in the 24-hour period we could win $10,000! Also, The Patterson Foundation will match any new donor, dollar-for-dollar, up to $250. A new donor is considered someone who DID NOT participate in last year’s Giving Challenge. And there are other incentives, too.


So, you can see why it’s critical that we hit a home run with this year’s Giving Challenge. The success of The Phelan-McDermid Syndrome Foundation depends on the support of its members, their families and friends. It’s a grand slam opportunity to help in a way that can score a HUGE win for our children.


We know there are other people who you know would be happy to support our Foundation and families. Please let them know about the 2015 Giving Challenge and ask them to Rise to the Challenge, too. Encourage them to pass the letter along, too.


The Giving Challenge is a great opportunity for us as a Foundation to raise awareness and fund family support and research. Feel free to contact Jennifer Randolph at This e-mail address is being protected from spambots. You need JavaScript enabled to view it , Susan Lomas at This e-mail address is being protected from spambots. You need JavaScript enabled to view it or Nick Assendelft This e-mail address is being protected from spambots. You need JavaScript enabled to view it with questions.  We’ll be happy to answer them.


As always, your support is so greatly appreciated! Let’s Rise to the Challenge … and THREEPEAT!


Sincerely,

The PMSF Fundraising Committee

 



 

Traveling this summer with a child who has PMS?

Planning can relieve some of the stress

 

By Tony Samuel

Father to Nadia

 

Summer break is upon us and traveling with children who have Phelan-McDermid Syndrome or autism comes with its own special challenges.

 

Vacation time requires advance planning and thorough execution. For Phelan McDermid Syndrome families, weeks and even months of planning is critical to ensure a successful vacation.

 

Having a checklist will help to make the vacation experience great for all members of the family. It's best to reach out to the hotels, resorts and theme parks etc. to see if special accommodations can be made for our children. The guest relations department may be able to help.

 

Some theme parks and recreational areas may have special wristbands for those with disabilities. Special need families may also be able to skip the line and get VIP treatment.  It's important to have a note from your primary family doctor explaining your child's specific condition, along with any recommendations. Also, bring along any appropriate medical documentation should your child have a medical incident and you're helped by emergency personnel who might not be familiar with PMS.

 

Special toys and blankets must be packed to make our children feel at home. As with other autism related disorders, PMS kids thrive on structure and routine activities. Even though they may be away from home, it's important to have a semblance of normalcy. At home routines need to be incorporated into the vacation experience.

 

For our children with sensory issues, families must ensure ear plugs and headphones are packed with other essentials. We should also have a recent photo of our child in case she happens to wander off.

 

Is your child still in diapers, like so many PMS kids? If they have a special size or brand that you don't know will be available at stores at your destination, check with your hotel to see if you can ship some ahead of time so you don't need to pack so many and they'll be waiting for you at your arrival. Otherwise, do some research in the city to which you are going and contact some medical supply stores to see if they carry your brand or style.

 

If you're the parent of a child older than 18, don't forget to pack your guardianship documents and a state-issued ID to prove you have the authority to make decisions for your adult child.

 

Wings for Autism is a special program that was developed at Boston Logan Airport and it now has affiliates across the country, where families are able to get a free airport rehearsal ahead of their trip. Families can experience the entire airport boarding experience, including sitting on a runway with the plane's engine on. Although your child may not cooperate fully at first, it's still a great opportunity to experience the airport boarding process in a safe and healthy environment.

 

With our daughter Nadia, we travel with her iPad, DVD player, toys, books and accessory chargers to ensure she is having a good time. Although Nadia is not ready for a plane trip, we find opportunities to travel by car.

 

A successful vacation requires preparation. PMS kids can enjoy traveling and families can have fun!



MORE TIPS: Parenting Special Needs magazine offers these 8 things to consider

when planning summer break for your special needs family member.


PSN magazine also offers these 7 special accessible vacation spots.


Last Updated on Tuesday, 14 March 2017 11:30
 
#Phelan Lucky T-shirt sales

Once again, PhelanLucky exceeds expectations


We sold 2,650 shirts, raised $45,000

By Jennifer Randolph
Chair, Fundraising Committee

PhelanI can't begin to tell you all how thankful I am for everyone who helped to make the 2016 Phelan Lucky campaign amazing! Whether you liked our page, shared our event or bought shirts we are so appreciative for all your help. We sold more than 2,650 shirts and raised more than $45,000 for the Phelan-McDermid Syndrome Foundation.

We sold at least one item in all 50 states, the third year in a row that we have accomplished this goal. We also are sending shirts to Belgium, Brazil, Canada, the United Kingdom, Italy, Ireland, Australia and Malaysia.

We had wonderful help from a number of celebrities who joined our campaign. Among them was Chris Snee and Phil Simms of the New York Giants, Justin Perillo of the Green Bay Packers, Jordan Hicks and Vince Papale of the Philadelphia Eagles, Delaware Gov. Jack Markell and comedians Jack Gallagher, Bobcat Goldthwait and Jeff Garlin. WNBA MVP Elana Delle Donne, runner Dick Hoyt and his son, Rick, Real Houswives of New Jersey's Kathy Wakile, Jacqueline Laurita and Dolores Catania and the New Orleans-based folk group The Deslondes also joined us in our effort to raise funds and awareness for PMS!

Post your pics with your new shirts

Don't forget to visit the PHELAN LUCKY Facebook page to see all the great pictures and inspiring stories. We would also like to thank the team from Booster.com for all their help and support in making all of our Phelan Lucky campaigns such a success.

You should soon receive your package from Booster. This year, let's try to get some truly unique pictures of everyone #PhelanLucky all over the world. Be sure to post them to the Phelan Lucky Facebook page or tag me on your photo. Also, remember to use the #PhelanLucky and #PMSF hashtags.

Last Updated on Wednesday, 24 August 2016 23:01
 
Phelan-McDermid Support Group marks 10th anniverary

The Phelan-McDermid Support Group marked its 10th anniversary at its conference July 24-27 in Greenville, S.C. This was the sixth time the group met since its founding in 1998, which was the first formal gathering of families who have children affected by 22q13 Deletion Syndrome. The conference also capped off Phelan-McDermid Syndrome Awareness Week, which was proclaimed in nine states and Canada.

Last Updated on Tuesday, 17 August 2010 21:28
Read more...
 
Cern Basher humbled by mountain climb, thankful for support

By Cern Basher

 

Thank you to all who donated and supported our climb.  While neither Dan nor I reached the top of Aconcagua, it was still a very successful “climb.”

 

We helped raise nearly $27,000 from 175 people!  Amazing support! So thank you. Thank you. All of this money will go to support the work of the Phelan-McDermid Syndrome Foundation.

 

It’s not too late to donate, so if you haven’t done so, please consider making a donation by visiting the Firstgiving page: http://www.firstgiving.com/climbaconcagua.  Donations can be made on the site until April 24th.

 

Climbing a mountain, especially a big one like Aconcagua, involves a lot of suffering, physical and mental. We knew this going into it, but nothing can prepare you for it until you come face to face with it. Suffering, especially what Dan experienced changes you.

 

Dan made it up to high Camp One, somewhere above 16,000 ft. He experienced incredibly high winds. In fact, a severe gust of wind blew one of the guides off of the mountain and into Dan, hurting Dan’s back. Dan was able to grab the airborne guide and hold him down, probably saving his life. In addition to that Dan was caught in a rock slide and had to swim his way out. While there are plenty of risks in climbing a mountain like Aconcagua, no one expects to have to grab on to people flying past you!

 

Here’s what Dan wrote about his experience: “I am not sure what to say about my feelings concerning Aconcagua. I was pleased with my ability to make it to high Camp One twice which, other than summit day, is the hardest on the mountain. But, I have no desire to go back to Aconcagua. I may have said this before but I came away thinking that Aconcagua is the ugliest place one can visit, at least it is the ugliest mountain I have encountered. I met some nice people but other than that the experience was not one I find nice to think about.”

 

That said Dan is lacing up his boots again and is off to Nepal in a few weeks – hopefully his experience there is much better.

 

As for me, I only made it to Base Camp, which is a three-day hike in from the trail head. I left home congested and was not able to shake it before the climb. This turned into a major problem for me, as I was not able to sleep very well or at all once we got higher up.  This affected me physically, so by the time we walked into Base Camp, it meant that I wasn't acclimated very well and was very tired.  Since I didn't believe that my congestion would go away once we were above 14,000 ft (in fact, it would have only gotten worse) I made the decision to abandon the climb. While the emotional consequences of the decision were hard, the decision to abandon the climb was easy. I believed that my safety would be compromised if I continued to push on and I didn't want to be a drag on the rest of the team. So, exiting at Base Camp was the right decision to make for me.

 

Dan and I have unfinished business on Aconcagua, but neither one of us desires to go back any time soon. It will be interesting to see just how long it takes for either one of us to tackle this journey again. But, just like in life, sometimes there are a few steps back for every step forward. Certainly for our “22q13 kids” their journey isn’t always straight ahead. In the last couple of weeks Dane has had a seizure and been sick. So, why should we expect smooth sailing on one of the world’s highest mountains? We shouldn’t. Climbing a mountain teaches you to take each day one at a time and treat it as a gift.

 

I enjoyed the time I had in South America and on Aconcagua, short as it was. For me, it was a gift, to go there and see what I saw, and to share the experience with other people and to look into myself. Aconcagua changed me. For that, it was truly a gift!

 

A link to photos from our climb can be found on the homepage of our climb Web site: http://www.22q13climb.com. There, you'll also find more about the climb and a chance to donate to our cause.

Last Updated on Sunday, 14 March 2010 14:26
 


Copyright © 2017 Phelan-McDermid Syndrome Foundation. All Rights Reserved.