No Worries!

This comes naturally to our children. On those days we are challenged by society’s judgement, step back and look at the beautiful face or your child looking at you without a care in the world.

don't worry


Fundraising time!


 50 Ways to Fundraise!

1) AUCTIONS – Collect sports memorabilia, spa packages, gift baskets and other items to hold a silent or Chinese auction. Or post them on eBay.


2) BABYSIT – Collect donations from parents to babysit their toddlers during a church service.


3) BAKE SALE – Hold a bake sale at your home, office or any place with heavy foot traffic.


4) BINGO NIGHT – Find a local banquet room and charge a fee for a chance to play bingo for prizes. Sell candy and refreshments to boost your funds.


5) BIRTHDAY PARTY/HOUSE PARTY – Simply host a party at your home with food, drinks and games and ask guests to make a donation or charge a fee.


6) BOWL-A-THON – Reserve a few lanes at your local alley and ask participants to collect pledges.


7) BREAKFAST WITH SANTA CLAUS – Reserve a local community center and serve a pancake breakfast where kids can have their picture taken with Santa Claus.


8) BAR TIME – Ask your local bar if they would be willing to donate a portion of the sales on the night of the Happy Hour event.


9) CALENDAR – Assemble a calendar with photos and facts about Potocki-Lupski Syndrome to sell in your community.


10) CANDY SALE – Sell candy bars at your school, your office or door-to-door and donate the proceeds.


11) CARE PACKAGES – Put together care packages of candy, food and other items. Sell them to parents who wish to send them to their kids at college.


12) CARNIVAL – Hold a carnival in your backyard or at a local park that features a ring toss, face painting, musical chairs, an obstacle course and other exciting carnival games.


13) CAR WASH – Charge a flat rate for each car and ask drivers to make an additional donation.


14) CASUAL DAY/ JEANS FOR GENES – Ask your place of business to allow employees to dress casually or wear jeans for a day with those wanting to participate paying a fee (ie. $5.00) or  in exchange for a donation to the PTLS Foundation.


15) CHILI COOK-OFF – Organize a chili cook-off in your community or place of business. Award prizes for “hottest chili,” “best chili,” or “most unusual.”


16) CHURCH/GROUP ANNOUNCEMENT – Make an announcement at your church or group meeting. Tell your personal story and mention PTLS Foundation would appreciate donations made to resume  research.


17) CRAFT FAIR – Set up shop at a local craft fair or flea market and sell your crafts or artwork. An excellent way to raise funds and awareness!


18) CONCERT – Reserve a local amphitheater or stage venue and ask musicians to put on a benefit concert.


19) COOKBOOK – Collect recipes from your friends and family, then organize them into a cookbook to sell at your school, church or place of business.


20) DANCE MARATHON – Ask your school to hold a dance and encourage students to collect pledges.

21) DINNER OUT- Ask a local restaurant if they will donate a portion of the meals sold on a specific night dedicated to PTLS Foundation.


22) DINNER OR GALA – Host a dinner in your home or at a public facility. You can serve anything from spaghetti to steak. Consider holding an auction or raffle as well.


23) DOG WALK – Collect pledges for distances walked with your pet or host a walk at a park with a flat entry fee.


24) EASTER EGG HUNT – Hide eggs at a local park or in your backyard and collect donations from families wishing to participate.


25) GARAGE SALE – Clean out your attic or basement and donate your proceeds. Ask your neighbors to donate their unwanted items as well.


26) GIFT RECYCLING – Host a post-holiday party in your home in which invited guests bring a gift they cannot use in addition to a donation. All the recycled gifts are then bid on in a silent auction format.


27) GOLF OUTING – Reserve a local golf course for the day and invite individuals and foursomes to compete in a golf tournament. Secure sponsorships for each hole and award prizes.


28) GOOD GRADES – Ask your parents and neighbors to make a donation for every “A” you earn on your report card.


29) GUEST BARTENDING NIGHT – Reserve a happy hour and ask local celebrities to be the bartenders for the evening. Tips collects can be donated to PTLS.


30) HOME AND GARDEN PARTY – Partner with Tupperware, Tastefully Simple, Pampered Chef, or another similar company. Invite friends into your home for product/service displays and donate your profits to PTLS.


31) ICE CREAM SOCIAL – Ask a local grocery to donate the ice cream and hold your social at school or work. You can charge by the bowl.


32) IN LIEU OF FLOWERS – In honor of one who has passed on, flowers are often sent. You could ask that people send a donation to PTLS in lieu of flowers.


33) KARAOKE NIGHT – Rent a karaoke machine and reserve a cafeteria. Serve food and drinks and ask the audience to donate in honor of their favorite singers.


34) LEMONADE STAND – Set up an old-fashioned lemonade stand and donate your proceeds to PTLS.


35) LETTER WRITING – Simply write a letter or send an email to everyone in your address book about your personal journey with Potocki-Lupski SYndrome and ask them to donate.


36) MOVIE NIGHT – Host a movie night at a public facility, or at your home, with a large projection screen. Charge movie-goers for admission, popcorn and refreshments.


37) PENNIES FOR PTLS- Place coin collection containers in your school, church or local business for a designated period of time. Award the individual or organization that collects the most money.


38) PERCENTAGE OF SALES – Ask a local restaurant or retailer to donate a portion of their sales over a designated time period to PTLS.


39) RAFFLES – Hold a 50/50 drawing in which half of the money goes to the winner and the other half to PTLS. This is the perfect accompaniment to any event.


40) RUN A MARATHON – Enter a local marathon and collect general donations or pledges for every mile you run.


41) SACRIFICE – Give up coffee or candy or fast food for a week and donate the savings to PTLS.


42) SCAVENGER HUNT – Organize a scavenger hunt and charge an entrance fee for teams. Be sure to award the winning team and consider making the event a pizza party as well.


43) SPORTS DAY – Pick your favorite sport and organize an all-day tournament with an entry fee. Award the winning team or individual.


44) STUFFED ANIMAL SAFARI – Have companies donate stuffed animals and arrange them in your home or a park to create a mini safari. Send children on a photo safari and allow them to buy their favorite animal at the end of the event.


45) TEA TIME TOGETHER– Mail an invitation and tea bag to your friends and family. Ask them to make a donation to your “virtual” tea party and drink the tea in the comfort of their own home at a specific time.


46) VIDEO GAME CONTEST – Pick your favorite video game and charge a fee to entrants.  This works well as a board game contest as well.


47) WALK – Reserve a location and register people for an awareness walk. Encourage teams and individuals to solicit donations/sponsorships for their participation.


48) WINE TASTING – Partner with a winery or merchant to select the very best wines and reserve a reception hall or scenic outdoor venue.


49) YARD WORK – Ask neighbors if you can mow their lawn, rake leaves or pull weeds in exchange for a donation.


50) BUILD-YOUR-OWN FUNDRAISER – The ideas above are a mere sample of what a little imagination can do. Put your own touch on one of these ideas or create an entirely new fundraiser all on your own. The important thing is that you put the FUN in FUNdraising.


No event is too big or too small and every contribution is greatly appreciated by Potocki-Lupski Syndrome Outreach Foundation, Inc. Contact PTLS Foundation, Inc to start your own fundraiser today!


Sight Reading is the way to go!

For all the little ones who have headed back to school, I hope the year has started well. Some of our kids are learning their colors, some are learning their letters, others are learning to read and write. Whatever they are learning, I hope they are learning in the manner that works for them. Please keep in mind, many learn to read best using sight words (flash cards, pointing to words while reading, etc), instead of sounding the word out (phonics). They are also often very literal with everything. As long as instructions are clear and simple (ex. go get your book vs. go over there and get your book and bring it here, then go sit down.) This is part of why they mimic so well. When we go about our daily activity, or kids are busy playing, our kids are busy observing them do these activities as they are, without all the flowery words we tend to add when giving instructions. Even though our kids are very intelligent, their minds are very busy so keep life simple! Have a wonderful school year everyone!

Different not Disabled

This difference in abilities will come with some challenges, some frustrations and yes, many tears. It will also come with joys, laughter and unique situations. Most of the struggles will come with the lack of understanding and discomforts of the disabled and special population by the community. As Christian will tell you, “I do not have special needs, and I am not disabled, I am just me…special!” As he told a group of 200 medical students and doctors, “having special needs is not like living in hell or anything!”

We are parents of a very special community. Our membership to this community is one that most did not ask to become part of, and may struggle with for years; however, all parents will find that it is full of extraordinary and loving parents of extremely happy children. Children who open our eyes to the way the world should be; no stress, no peer pressure, no teen pregnancy, no alcohol and drug abuse, no traffic tickets. We have been given the job of gardeners in God’s beautiful “Blue Rose Garden”. This is God’s very special garden that he watched over and smiles at their incredible beauty. We, as parents, are responsible for tending to these roses and bringing out their magnificence for all to admire. Tending to such delicate, yet extremely important, flowers is not an easy job. It can be a tireless job filled with great concerns, but it is the job we have been given. We have the ability; we just have to relearn how to grow a blue rose instead of a daisy.

Christian’s Story

Duplication 17p11.2 and Development of the Brain

Duplication 17p11.2 and Brain Development:
The day I gave birth to Christian was the day the sun was brighter, life took on a whole new meaning. As I looked into his precious face, I could not help but see an angel looking back at me. As I watched him sleep, I slipped back into remembering the actual delivery. Now the labor part I was good with, the C-section without medication (the epidural did not work, and I felt the whole thing) was not so exciting, but one area kept bothering me; the fact that Christian came into the world quietly. I remember the doctor calling out to see if he was breathing, and the nurse responding with a calm “yes”. It was as if he entered into the world with his mind and eyes focused on the trip he just took and where the heck did he end up at. Fast forward to the days of knowing something was different, and reviewing every medical book I could get my hands on, the pediatricians I worked for agreed to give him a referral to the geneticist.
I remember sitting in the office waiting for the test results. In walked Dr. Robert Stratton, the highly intelligent and very informative geneticist. This man sat down and proceeded to plant in my head, the words I will never forget. It has been 19 years and I remember them like it was yesterday. He told me that he found a duplication on chromosome number 17 at the p11.2 location. This was located on the upper part of the right arm of the chromosome. Stunned at the finding, the first words out of my mouth were, “how did you find that?” The next was “what does that mean?” So he explained to me how difficult it would be for another doctor to find this, since not much happens on 17p11.2 that would describe Christian. He happened to be studying the opposite, Smith Magenis Syndrome (SMS) and thought he would take a look. He said looking for this is like looking for a tree that fell in a forest. He told me that it will be easier to find these issues when technology gets better.
So, on to the next question, what does this mean? Since there are only 3 other reported cases in the world, we do not know much. “WHAT, only three others?” He told me that one was a 42 year old man in Canada, who did not speak or read and was institutionalized. Another was a 9 y/o boy, in South America, who was self abusive. The other was a young girl and did not know a lot about her. So, on to what does this mean for my son? Dr. Stratton proceeded to remind me that there was not a lot of information out there and that technology was not up to a place that can tell us more. What he told me next didn’t really make sense when he said it, but it really makes sense now. He explained to me one of the jobs this area on the chromosome is responsible for. He told me this duplication will affect the migration of the cells of the cortex. As a nurse I could understand exactly what he was saying, as for my family, I broke it down. When the brain develops in the embryo in the uterus, the over 250,000 neurons (cells that transmit information) are formed. The neurons move to protective coverings and extensions and they continue to grow until around 20-23 yrs. of age. The brain begins to grow (the neuron/cells migrate) from the front of the brain to the back and then back again. Back and forth it goes. Dr. Stratton explains that this duplication affects the migration of the cells of the cortex (the large part of the brain) and it will migrate (grow and mature) at different rates, so it will cause delays and then spurts of development, depending on what part is maturing and what area of the brain will it get to (i.e. The speech area, the toilet training area, the walking area, etc) It is unsure at what rate, when the changes will happen and how long this will go on. Here is where I was unable to relate it to Christian at the time. I knew that he was diagnosed with delayed development, was in speech therapy at age 15 months to jump start a bit of babbling, rocked back and forth, sat with his legs in a “V” off the ground while balancing on his tailbone, but did not walk until very late. I did not have anyone to compare him to so I could see at what age things would be happening. Other parents had a child development chart to follow, I had Christian to watch and make my own chart. I knew he would accomplish all his developmental tasks, I just didn’t know when. I can now look back and see how he did have rapid growth spurts and delays all throughout his young years. They leveled out at puberty.
So, my next question was, “is there anyone studying this?” “No” the good doctor told me. He once again informed me that I would have to wait until technology got better and then he was sure someone would. This began the 6 years of calling in and waiting. I had the pleasure of meeting Dr. Jim Lupski (Dr. Lori Potocki was at home on maternity leave for her first child), who explained to me that this duplication is responsible for many more issues, which he needed to know more about, thus the reason for our meeting, as Christian was about to be the first child to go through the protocol to compare him to those with SMS, and learn a bit about this duplication.
So here is my thought; if this duplication affects the way the brain develops, then it explains why these kids have delays and followed by times of rapid growth, followed by delays. A child cannot perform physical activities (walk, talk, potty train, and feed self) and have cognitive abilities (which can be very advanced, even though they are not talking) until the brain has matured to that area of the brain that is responsible for that activity. It is a matter of waiting until this process is done to have an outcome.
Another issue I questioned was the connections in the brain. How were the “electrical” connections in there? I have spoken with people who will tell me that sometimes it seems as if they can hear the electrical “zaps” going on inside their head, and it is really irritating. They have to take a mild medication to stop it. I remember Christian getting an MRI when he was 2y/o and it showed “illuminations” on it. The doctor was not sure what they were and left it at that. Now I look back and wonder if it was like little “zaps” in his head, and maybe they were noisy, or the hypersensitive hearing, which distracted him. Maybe this is why some kids bang their heads, shake their heads or do other behaviors to try to quiet this? Hum…just a thought. Now, with medications, one doctor tried to get him on Ritalin, and this only caused him to become a zombie. Hyperactivity was never a problem, but focusing on a task was “a problem” according to the teachers. I later learned that he learned much better when he was able to rock and hum in class while he was learning. This did not go over well with the teachers, but I stuck to my guns and they learned to adjust. Christian learned better with some movement and poorly when he had to sit still. We had to modify the moving to a little rocking while in his chair, and hum quietly. When he did this, he was able to repeat details of all that was taught, and then some. Another thought, could these misfirings be the cause of the sleep apnea some kids have? The lack of concentration (ADD)? Again, just a thought.
I hope that this explanation of the brain helps shine some light on why your child is so unique. Their brains are busy growing, just at its own pace, but it is growing. Therapists could use this information as well. It could help them to understand your child better. Repetition, routine, and predictable outcomes is how they function best. Life will be easier if you can do this for them. These kids will show higher functions in areas that will stun their peers. They are unique, and in a good way!Julie Smith-Centeno (23 y/o Christian) Sept. 2010