BIG SUMMER BASH

DATE: Thursday June 20, 2012

PLACE: Bedford Martial Arts Academy

334 Route 101, Bedford NH

TIME: 4 PM- 7PM

Admission Cost: FREE but any donations go toward OPTN

Join us at Bedford Martial Arts Academy’s Annual BIG SUMMER BASH.  There will be Bounce House, Dunk Tank, Magician, Games/Activities, Demonstrations, Raffles, and LOTS MORE! Good Thymes BBQ will be there firing up the grill. Great Music by DJ MC Hoopsta. Bring Your Friends and Family. All Proceeds to Benefit “Our Promise to Nicholas” and to Help Find a Cure for Batten’s Disease.Additional Parking for Event:  Hannafords Grocery Store

5th Annual FORE! Nicholas Golf Tournament and Dinner

DATE: Saturday June 22, 2013

PLACE: Stonebridge Country Club, Goffstown NH

TIME: 1:30PM Golf

DINNER: 6:00PM

Please join us at scenic Stonebridge for a special day and evening to raise funds for Batten disease research.

​Featuring an 18 hole golf scramble, team prizes, hole prizes, raffles, silent auction, cocktail reception, live music and dancing.

​Prizes include a $25,000 hole in one, a 55 Inch 3D HDTV,  IPad, Red Sox Memorabilia, Raffle baskets, Tickets to James Taylor at Fenway, and a year membership at Stonebridge!

​Dinner is your choice of Clam & Lobster Bake, Grilled Chicken or Prime Rib.

Don’t golf? Make it a “date night” or “night out” for a evening with a gourment dinner, live-band, amazing raffles donated, dancing over looking a beautiful golf course and don’t forget to get the famous Buzz Light Year Drink!

Golf Web Site Click here: Golf Web Site

NICHOLAS UPDATE

Hard to believe Nicholas turned 10 last month.  It was a tough day for me to get through with out a lot of tears as I reflect back on his life and the past 5 years. William made him this hat at school and a card. William and I also made Nicholas a cake to celebrate. We are lucky he is still with us today. I am lucky to also have Chris and William get me through that day.

Nicholas has been only fair lately. In the past month he continues to have one to two seizures a week. Which is better than every day but it has really worn him out. This is not a good pattern for Nicholas.  As when he has one seizure I have to increase his seizure meds quite a bit to make sure he does not have cluster seizures.  Coming down from the “seizure med high” is hard as he goes through with drawls. Much more shaking, hallucinating and agitated. He has more smiles but he gets overly excited for shows or sounds that again it could force his body quickly into a seizure again.  He has a very low threshold for them at this time.  His sleeping continues to be very poor often waking at 2-3AM and not returning to sleep until late morning.

This week he has developed a mouth/ tongue twitch, his arms are flap up and down and his muscle seem very tight  which are all due to the high level of meds in his body that he had to be on last week to stop from seizing.  We are working daily to return his meds to their usual doses but it has to be done very slowly or he will have another seizure coming down on meds. So he continues to have PT and massage therapies, baths with Epsom salts,  keeping the environment around him calm and lots of holding and hugs …all seem to help.

He only has 2 more weeks left of school. He will be home for one week and then summer school for 6 weeks. Summer school is good for Nicholas because he actually gets all his therapies at school. He seems happier when he gets out of the house and follows a routine of riding the bus and going to school with his friends.

I am looking forward to our plans for the summer which will be taking our annual trip up to Cabot Vermont Joe’s Pond in July. This  is a place Nicholas has gone every summer for 10 years. I know he still will love the smells, hearing the loones, riding in the boat and grampy’s Model T and hanging out with family. We hope to make a trip to Santa’s village while we are in the upper part of New Hampshire. Otherwise I would like to take Nicholas to the beach as much as possible this summer. It is good for our whole family to get out into that beach /salty air, sand and hear the waves! We have a great tent that Nicholas and I sit under, Nicholas listens to his movies and I watch William run in and out of the water or dig in the sand.  Other plans we have are  taking Nicholas to the pool is something he loves and a few trips down to Boston to the Museum of Science.!  Pictures to come to keep checking back with us.

Acts of kindness: Bedford Martial Arts Academy is having their Annual Summer Bash and choose our charity as their benefit this year. We are honored. This month the instructors are wearing “GREEN” ribbons in honor of Nicholas. I was so incredibly touched to see this when I took William to his class last week.

Bedford Morning School: Had their annual Bike-a-ton for with their school children, They raised over $500.00 for OPTN. I was so touched they continued to think of us this year. See below the kids pictures.

Here is Nicholas in May trying his best to smile. When he makes this face….he is getting really really excited from something I said to him or one of his movies!

We love him!!!

​

JOHN TANNER

Boston Globe Article April 4, 2013 tribute to John Tanner

All of us at the Our Promise to Nicholas Foundation are deeply saddened to learn of the untimely death of a beloved friend and supporter John Tanner during the New York City Half-Marathon on March 17, 2013 at the age of 47.  John had been a long time competitive runner who devoted all of his races over the past 5 years to raising awareness about Nicholas and Batten disease.  He always wore a shirt and wrist band supporting Nicholas while competing.  He was a valued and special employee of Russell’s Garden Center in Wayland, MA, where he worked for the  past 6 years. He always treated people with kindness and respect and he had love in his heart that was felt by all who met him.  John met a young Nicholas Dainiak during the early stages of Batten disease.  Nicholas enjoyed John’s company and was thrilled to wear medals from John’s races, even one from the 113th Boston Marathon, which he gave to Nicholas. Nicholas considered John to be a superhero. John was a hero to all of us at OPTN and will be greatly missed.

Chris and Heather

CLICK HERE TO SEE VIDEO OF THE EVENT      

Happy Holidays!

Nicholas is now 9 ½ years old and it is hard to believe that Our Promise To Nicholas Foundation was founded 4 years ago. We sat at our kitchen table with friends and family to discuss how to start a foundation.

Each year this holiday letter gives me time to recall good memories with Nicholas. Last February we took Nicholas skiing at Mt. Sunapee Mountain with the NEHSA program (New England handicap and sports association).  After many cancellations due to Nicholas health, he was finally well enough and seizure free to ski. We only made it down the slope a few times but it was worth every minute. Skiing reminds me of my childhood and I hoped to give Nicholas some of the joy it brought to me.  I could see from the expression on Nicholas’s face that he loved feeling free and going fast!  When I skied as a kid, I felt empowered that I could conquer anything life would throw me, but little did I know that what life had in store.

This year we finally made some home renovations to help accommodate Nicholas as he continues to grow.  We moved Nicholas’s bedroom to the first floor and renovated the downstairs bathroom with a full size tub. We painted his room in his favorite colors. We installed a wheel chair lift into our van to give us more freedom to travel with Nicholas.  In the spring Nicholas became suddenly very sick, we think with pneumonia. He was started on IV fluids and antibiotics at home.  Thanks to the many home visits by his pediatrician and other medical specialists and friends, we were able to avoid going to the hospital.  He slowly got better, but did not return to baseline. He was no longer able to eat by mouth, sit up on his own or say the words “mum”. It broke my heart.

In May, Nicholas had his last follow up visit at Cornell for the 2010 Gene Therapy study. He had his final MRI, blood test, lumbar puncture and eye exam.   Although I know Nicholas has declined significantly since the brain surgery I am proud we were part of the study. I know it was not a cure, but it still gives us hope for the future.  I look at my son as a hero.

Nicholas ended 3^rd grade and started summer school. He attended school for 4 hours a day with his nurse but he had to miss many days of school due to seizures or illness. Whether Nicholas was at school or home he had a busy schedule receiving physical therapy, occupational therapy and speech (for communication). On the weekends we went to the beach so he could feel the sand in his toes, smell the ocean and hear the waves. I could feel him relax into my arms as we sat together enjoying our time.

I am thankful that currently Nicholas remains stable. He continues to enjoy listening to shows and loves family members to narrate Disney Movies, music and books. He likes to go swimming on the weekends with his brother or he enjoys family visiting.  He can still occasionally express himself with smiles, laughter and giggles but also with sadness or pain. I know Nicholas’s mind is still in that little body trying his best to communicate his needs to us.  I know we are doing everything we can to keep Nicholas comfortable.  It is hard to watch his angle wings grow as Batten disease slowly takes his life before us.  I never want my little boy to leave me but when it is time I know I will have to let him go in peace.

Our Promise to Nicholas Foundation Update:

We had a very successful year for Our Promise To Nicholas Foundation. The Mom’s Club of Bedford NH held their 4^th Annual Easter Egg Hunt Fundraiser in March at the NH Sportsplex, they raised $9,500.  The next event was the New Morning School held their 2^nd Annual Bike a Ton raising $720.00. 4^th Annual Fore Nicholas Golf Tournament and Charity dinner held at the Stonebridge Country Club in Goffstown NH held on Saturday June 23 raised $20,000, and the 4th annual Halloween Outdoor Movie Night Fundraiser raised $3000.  Lastly Russell’s Garden Center of Wayland MA had their annual fall festival and raised $1000.00 for OPTN.

We had a very successful 2012 year for OPTN. We appreciate our sponsors, participants and every donation toward our events to make them all a success.

As you know, the money we raise all goes to research.  This year, we have committed to fund research in conjunction with other Batten disease organizations from around the World and with the help of private industry.  This year, OPTN is directly funding an international database on the natural history of Batten disease.  This database will keep all of the important information on each child with Batten disease in a centralized location, so that it can be utilized by all scientific researchers as they proceed with ever more important clinical studies.  This is critical to understanding if new treatments help to alter the disease process, and allows us to understand therefore, what is actually helping our children.  Your support of OPTN is directly responsible for this work!

Looking back at 2012 makes me feel hopeful for the future. We have come so far in so many ways, yet we know that there is so much to do.  I am thankful for an amazing and supportive husband.  A caring and sweet son William, who tells me his dreams are to end Batten disease for kids like Nicholas.  I am thankful for our families and their support. I am thankful for Nicholas’s nurses who give me respite and time with William.  I am thankful for his therapists who keep Nicholas well.  I am thankful for his teachers who read, sing and include him in class with his friends. I am thankful for everyone who loves Nicholas as much as I do.  I am thankful for my friends and our community. I am thankful for the many supporters of OPTN that continues to believe in our family and our foundation.  You all give us strength each year to continue with our promise to cure children like Nicholas. I really believe one day there will be a cure.

Thank you from the bottom of my heart and God Bless you and your families.

Heather and Chris Dainiak

Our Promise To Nicholas foundation had our 4th annual Bedford Outdoor Movie Night Fundraiser on Saturday October 20, 2012 at the Reilly Field Complex in Bedford NH. Thank you to our sponsors this year Carrabba’s Italian Grill,  Community Events, Chris Malloy and Regal Cinema of Hooksett NH. Thank you to DJ McHoopsta (Heath Hoopster) of,   This year’s movies were Great Pumpkin Charlie Brown and Raiders of the Lost Ark.  Pumpkin Decorating, Face Painting, Huge Bake Sale, Outragious  Awesome Raffle Baskets, Popcorn, Candy, Children Games, Spin Art, Cotton Candy, Bouncy Houses and a Children’s Parade. The event was a big success  with approximatly 250 people and we raised nearly $3000.00.

Thank you to the many volunteers on the day of our event. Thank you to Dotty and Bob Noyes, Amy Noyes, Carl Leguia, Dan and Amy Noyes, Leslie Catania, Marc McVicker, Melissa Kelly, Kelly O’Donnell, Marie Obrieter, Iris Belmore, Mary Trahan, Keith Trombley  , Katie LeQue, Katie Blazak, Jen Dickson, Susan and Rachel Williams, Amy and Allie Paquette, Teresa Stauber- simply Delish, Mark Morrison, Theresa Hebert, Diane Marcoux,  Gina Affonso,  James Gallagher,  St. Anselm College Nursing Department and St. Anselm College Students: Elizabeth Antaya, Bridget Ackerly, Sarah Buckley, Jess Wyrsch, Audrey Quigley, Vanessa Mendez, Kelly McIntyre, Alex Risko, Leah Grondin, John Sullivan, Matt Zacchilli, Ani Derderian, Elsie Homan, Katie Ridge, Brittany Taylor, Kelly Niland, Kristina DMichele, Isabella Villani, Andrew Tallarita, Danielle Messuri, Kelsey Lee, Maggie Carr, Haley Albert, Jackie Finnegan, Leanne D’Etremont, Brittany Beaumier, Heather Geisti, Olivia Hamalainen, Sharon McCarthy, Bonnie and Morgan Barnsley. Thank you to Bedford Park and Rec Department for allowing us to borrow town owne tables for free. Thank you Carrabba’s for sponsoring our event and serving soup and salad. Thank you to the Mom’s Club of bedford and Yahoo Group of Bedford for donating baked goods for our bake sale table. Thank you for the Bedford community for coming and supporting our event.

Thank you Russll’s Garden Center in Wayland Ma who also held a fundraiser as part of their Annual Fall Festival for Our Promise To Nicholas foundation on Saturday  October 13. They raised $1000.00 for OPTN. Thank you Iris Belmore and her sister Liz for putting this raffle together for Nicholas and our foundation.  These pictures are Nicholas’s younger brother William (age 5) and Nicholas cousin Isabella (age 3). Nicholas was not well enough to travel to MA for this fundraiser so he was home with his dad.

NEW OPTN VIDEO CLICK HERE TO WATCH

In March we had our 4th Annual OPTN/Bedford Mom’s Club easter Egg Hunt on March 31, 2012. It was a HUGH success raising roughly $9,500. Thank you to our sponsors IRA Lexus of Bedford, Catholic Medical Center, NH Sportsplex, Nini Bambini, Fitness Authority/Cross Fit of Bedford, My Gym, Woodplay of Bedford, Ameriprise Financial, Debbie Ellis Photography, Bedford Martial Arts, Kricky Clowns and Manchester Monarch- Max., Simply Delish and Sweeth Tooth Bakery,  Thank you Stephanie Caldrone,Kristen Lande, Heather Bond, Kelly O’Donnell, Marie Obrieter,  Suzanne Bergeron, Beth Tamulevich, Dianne Kashiwabara, Jena Slosberg, Julie Newman, Amy Boughter, Jamie Humphrey, Amy Kemp, Melinda Chen, Debbie Ellis, Jeremy Haskins, Mary Trahan and Katie LaQue.   Thank you to St. Anselm Nursing students for providing us with many volunteers. Thank you to the mom’s club of Bedford NH many volunteers and putting this event together for OPTN.

Easter

Thank you to the New Morning School of Bedford NH and Linda Degler for holding their 2nd annual Bike-a-Thon for Our

Flynn

Promise To Nicholas Foundation. It was held on Friday June 1, 2012 and raised $729.00 for OPTN. See the pictures

Kevin

below. Thank you!!!!!

Lucy

Sean

Lastly we held our 4th Annual Fore! Nicholas Golf Tournament on Saturday June

Team Auto Fair Hyundai

23,2012at the Stonebridge Country Club in Goffstown NH. We had over 90 golfers this year joined by an additional 50 guest for our dinner portion of the event. We raised roughly $20,000 at this event. Our All-Star Sponsor was AutoFair Hyundai of Manchester.  Thank you to our sponsors Bedford Ambulatory Surgical Center, Bedford NH, Brian P Hayward, CPA Paul F. and Mary Anne McLaughlin Family Foundation, GDS International, INC of NYC, Paul’s Fine Clothing, Inc. of Cheshire, CT, The Friel Family, Tom’s Earring Holders, Westhampton MA, DTS Therapy, Rehab and Exercise of Merrimack NH, McCarthy Family, Chase Waste Material Corporation of New Haven, CT, Kelly M. Dainiak DMD Naples FL, Duncan Donuts of Walpole, MA, Congress Asset Management, Delta Dental, Bridgeport Hospital, CT, Next Step Orthotics  and Prosthetics, Inc, Workplace Benefit Solutions, Elite Backyard Rinks, Sales, Design and Installation, Granite State Credit Union. Thank you to our band Nobody’s Fault. Thank you to Debbie Ellis Photography,  Thank you to Dotty and Bob Noyes, Susan Williams, Kathy and Don Pierce, Amy Noyes and Thank you to all our 26 volunteers on the day of the event. Thank you for the nurses Sonia and Cheryl who took care of Nicholas all day at our home during the event. Thank you to all the raffle items, silent auction items, TV, Ipods, Raffle Baskets, gift certificates all donated to make our event a success. Thank you thank you thank you thank you!!!!

Update on Nicholas: I have not updated on Nicholas for about 6 months. It has been a slow and steady decline in the past 6 months. We thought we were going to loose him in February/March when he was diagnosed with pneumonia. We were able to keep him home, comfortable and out of the hospital but it was a very stressful time for me and my family. Luckily we have a big support system around us. Nicholas pediatrician nearly came daily to check on him and we were in constant contact with Nicholas’s doctors and staff from Boston Children’s hospital Boston to adjust his medications. He started having seizures and it was difficult to get him out of the clustering. I don’t think I will ever forget the day Chris looked me in the face and told me this could be the end for Nicholas. I think I cried for about 24 or more hours in disbelief. But antibiotics and a lot of fluids slowly Nicholas got better. I know we had a lot of prayers for Nicholas and family around us at that time. I know the plans for Nicholas future and I will never be ready to let him go but I did not think this was his time. We were lucky this time he was able to fight and returned slightly to baseline. But was no longer able to eat anything by mouth or stand even with assistance.  It does continue to be torture watching this disease take his life slowly away. Complete torture. Knowing I now  have a few more months another year or two makes me feel lucky.

Nicholas finished 3rd grade and moved into the summer school program for 6 weeks.  The hours are better as school starts at 9AM and he comes

Therapy

home at 1PM. He is able to sleep in longer which is good for him. Nicholas often has difficulty getting to sleep and wakes a few times a night every night.  He continues to go to school with his same awesome nurse Theresa. He continues his therapies at school PT, OT an Speech, therapies from Easterseals and  massage 3 days a week out of school .  We are lucky to have been blessed with therapists and nurses who love Nicholas as much as I do.  He is mostly tube fed by pump during the day, some days he can tolerate a bolus feeds but we do struggle with reflux.  We have added Nexium, Claritin daily to his medications and often pedicare is added to dry up the flem we can hear in his throat. These medications that seems to help keep the food down as well.  Nicholas uses his “stander” 2 hrs + per day and is given a hot tub bath daily with epsom salts and jacuzzi bubbles which seems to help relax his muscles when they are tight. Nicholas continues to take his seizure medications 12 times a day, it is just a way of life for us.

We have taken many trips to the beach this summer. It is peaceful and relaxing having Nicholas listen to the waves, smell the beach and feel the sand in his feet as well as cold water of the ocean. We will get a few smiles out of Nicholas but they are getting few and far between. I can feel his body completely relax into mine when I sit behind him holding his body. I know my boy’s mind and soul is still in that body. I am thankful that he does not seem to be in constant pain or frustrated but instead overall he seems content and okay being with Chris, William and I.  I like to believe that he knows we are doing everything we can to keep him comfortable.

Beach

Last visit to NYC for follow up

Inn the month of July we had to go forward to get a full sized lift into our van for Nicholas to ride in his wheel chair. Thank you to both our parents for providing us with the money to get this done for Nicholas. Also “Ride Away” of Londonderry NH provided us with a free lift and we only paid for labor. When they realized it was going to take more than 2 days as planned they did not charge us for the 3rd day of labor. Thank you. I am both thrilled to have the lift in our van but also sad to have to get this done. It was hard to hold in the tears when I picked it up from the shop.

Nicholas was diagnosed 4 years ago and watching old video’s of him can knocked the wind out of me. I can’t breathe and I am filled with sadness and anger. I know I need to be brave for William and Chris. I know I need to be brave for  our family and friends around us but I just want to yell, scream and hit anything that comes in front of me some days. I know it is a child’s way of thinking. I understand the cycles of life. We are born, we live and then we die. But I also would do anything to take Nicholas place and give him a chance to live longer. This wish will not happen in Nicholas’s life time. So all I can do is continue to cherish him, love him and feel very blessed by my family and close friends around me. I do feel loved and I am thankful for the continued kind words and actions, cards, gifts of hope and love. Thank you for holding my hand and walking through this journey with me. I am thankful for all the goodness I have been shown in the past 4 years.  God bless!

2012 FORE! Nicholas Golf Our Promise To Nicholas Video click here and watch!

4th annual FORE! Nicholas Golf Tournament and Dinner

Thank you to all our volunteers and golfers at this years FORE! Nicholas Golf Tournament and Dinner!

Thanks to you the event was a huge success.

Please see your photos in the links below, provided by Debbie Ellis Photography.

If you chose to purchase any photos through Debbie Ellis, all proceeds will go to Our Promise to Nicholas Foundation.

Thank you Debbie!

FORE! Nicholas Golf Tournament photos 2012 slideshow

Debbie Ellis Photography Website photos

RADIO INTERVIEW JUNE 1  2012

Recent Radio Interview on Batten disease and FORE! Nicholas Golf Tournament

The username OPTN.CURE has been set for Cure Genetic Brain Disease – Our Promise to Nicholas Foundation. Now you can direct your fans to facebook.com/OPTN.CURE

See our write up in New England Golf Monthly:

http://www.mynegm.com/golf/news/2723/fourth-annual-fore-nicholas-golf-tournament-set-for-saturday-june-23rd-at-stonebridge-country-club

John Tanner

Our dear friend JOHN TANNER ran the Boston Marathon today April 16, 2012 for our son Nicholas. Here is a picture of John today running in 90 degree weather! This is his 4th marathon he has ran for Nicholas in Boston and we are so honored he does this for our son!

Nicholas in Boston Globe

Nicholas was mentioned in the Boston Globe today in an article about the artist M-C Lamarre, who has painted nearly 100 Fenway Murals.

Here is a link to the article:  http://www.bostonglobe.com/metro/2012/04/13/new-bedford-artist-wants-paint-green-monster-murals-fenway-park-anniversary/pKRcrox0ZD4bx5BHpUq0VK/story.html

As a tribute to opening day at Fenway Park’s 100 anniversary, here are some photos of our Fenway Park for Nicholas:

THANKS to all the MOMs and our amazing community for coming out to support such a great event.

We far surpassed last year’s totals for people attended and money raised!

Click here for more web
site to Mom’s Club Easter Egg Hunt Fundraiser

SPONSORS AND ENTERTAINMENT ANNOUNCED FOR

MOMS CLUB OF BEDFORD FOURTH ANNUAL EASTER EGG HUNT

The platinum sponsor of the event this year is the host venue, NH Sportsplex, an indoor sports facility which offers 130,000 of playing surface for sports leagues and activities for children and adults including soccer, field hockey, basketball and flag football.

“It was not too long ago that Nicholas was running on our turf with our Lil Kickers soccer program, and year over year we are saddened to see the effects that Batten has had on him, “ said Michael Benton, owner of the NH Sportsplex.  “ NH Sportsplex is proud to sponsor this year’s egg hunt in Nicholas’ honor and we encourage all of our players and community partners come to the event to help him fight this terrible disease.”

“As an organization, we take extreme pride in extending our resources to a worthwhile cause such as this,” noted Laura Bloom, the Director of Service at IRA Lexus. “It is our honor to help out our local community and it is something that is at the core of our company values. We are humbled knowing our support may forge a vital step in fulfilling the pledge of Our Promise to Nicholas Foundation.”

The egg hunt will take place promptly at 10 am, when children can hunt for eggs filled mostly with candy and stickers plus a few “golden eggs” filled with special prize tickets provided by the NH Sportsplex, Ira Lexus and other local businesses.  Entertainment will include Kricky the Clown who will be making balloon hats and animals, a performance by the Sunshine Generation, demos by the NH Sportsplex and Bedford Martial Arts School, and appearances by the Easter Bunny and Manchester Monarchs mascot Max.  Face painting and air tattoos will also be available to children.  Guests can also purchase bake sale items as well as raffle tickets for themed Easter baskets and items including tickets to the Manchester Monarchs, Fisher Cats and Boston Celtics, theatre tickets, Amy Conley Music Together classes, a birthday party at My Gym Children’s Fitness Center and much more.  The NH Sportsplex is located at 68 Technology Drive in Bedford.  Tickets to the egg hunt are $5 per person with a family cap of $20 and may be purchased in cash or check at the door.

Our Promise to Nicholas Foundation

The MOMS Club of Bedford, NH,is a chapter of the non-profit International MOMS Club and offers a wide range of activities including monthly meetings, park outings, playgroups, and moms’ nights out. The chapter is also committed to service projects within the community. Interested Bedford mothers can visit http://www.momsclub.org/for more information or to join.

• Beth Tamulevich, MOMS Club of Bedford, cell 603-714-9849
• 

February 29th, 2012 is RARE DISEASE day……..

We would like to honor children with a rare disease for this month like our son Nicholas who has batten disease (LINCL).

The statistics around rare disease are astonishing. 1 in 10 Americans is affected by some type of a rare disease. That’s a huge number of people – 30 million in the U.S. according to the NIH (and over 350 million worldwide.) Did you know that there are 7,000 different types of rare diseases? The amount of drug approvals for the entire rare disease community each year is extremely low – potentially only 5 or so drugs a year out of a 21 total drugs the FDA approves. To date, only 5% of rare diseases have a treatment! For 95% of rare diseases, there is not a single approved treatment.  Batten disease  is one of those 95%!

For more information about Rare Disease. Please Click here for the RARE DISEASE WEB SITE

Epidermolysis Bullosa (EB) Click here for the natinoal web site

EB is a group of diseases characterized by blister formation after minor trauma to the skin. This family of disorders, most of which are inherited, range in severity from mild to the severely disabling and life-threatening diseases of the skin. This rare genetic disorder affects all ethnic and racial groups. Estimates indicate that as many as 100,000 Americans suffer from some form of EB.

Try to imagine a person with painful wounds similar to burns covering most of his or her body. Unlike burns these wounds never go away. For children,  riding a bike, skating, or participating in sports is difficult because  normal activities of children causes chronic sores. Wounds may cover up to 75 percent of the  body. Imagine a diet of only liquids or soft foods because blistering and scarring occur in the mouth and esophagus. Scarring also causes the fingers and toes to fuse, leaving deformities which severely limit function. Imagine a life tied to hospitals for wound treatment, blood transfusions, biopsies and surgeries. The eyes often blister preventing sight for days. Chronic anemia reduces energy and growth is retarded. There is little hope for life beyond 30 years. Children  with EB are often referred to as Butterfly Children because their skin is as  fragile as a butterfly’s wings.

Watch this Video: The Boy behind the bandages

Aleternating Hemiplegia of childhood (AHC) Click here for the Web site

Meet Matthew

Imagine your child

·         Was CRIPPLED by a mysterious disorder that left him paralyzed for minutes, hours, even days at a  time…the mental anguish of hearing your child say “bye-bye arm”, the physical injury you endure carrying him when he goes limp suddenly.

·         Was ROBBED of his or her childhood and future.  Instead of soccer, baseball, and karate, your child goes to OT, PT, Speech, and numerous doctor visits. Imagine hearing your child will at best barely attain an 8^th grade level education.  Instead of planning for  college & helping him shape a career, you’ll be planning for his care & doing your best to teach him basic life skills.

·         Is   IMPRISONED FOR LIFE trapped in a body that won’t work right, and a mind that won’t let him flourish, all because of a disease. How would you feel knowing  your child will be forced sooner or later to live in group homes or institutions?

I don’t have to imagine.  I am Matthew’s father.   Matthew suffers from a rare disease called  Alternating Hemiplegia of Childhood (AHC).   He was born with complications & spent the first 10 days of his life in the NICU of Rex Hospital in Raleigh, NC where we live.  The doctors originally thought he had epilepsy.  This is one of the challenges with AHC.  As there is not known root cause YET (thought researchers are VERY close), the symptoms of AHC can look like other diseases, like epilepsy or cerebral palsy.  While there are only approximately 700 cases identified in the world, there are likely thousands undiagnosed (based on 1 in a million current ratio extrapolated to world population yielding 7000, not 700)

To make matters worse, about 50% of AHC sufferers do have true epilepsy.  Matthew is one of these. In fact we almost lost him in February, 2009 to an epileptic seizure.  After that I made the decision to do whatever I could to get some answers for this extremely rare, debilitating neurological disorder.    I became President of the AHC Foundation in August, 2010.   The  AHC Foundation is funding  breakthroughs in the quest to treat & cure this devastating disorder, but funds have run out!

This Rare Disease Day, we are launching a campaign to change that!. This video will show

Watch this 3 minute video. CLICK HERE!

Friedreich’s Ataxia

National Ataxia Foundation Click here

Web site on Friedreich Ataxia Click here

What is Friedreich’s Ataxia?

Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. About one in 50,000 people in the United States have Friedreich’s ataxia. Onset of symptoms can vary from childhood to adulthood.  Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression.  Late onset FA (LOFA) can occur anytime during adulthood.  FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich’s ataxia and will lead to treatments that eliminate its symptoms.

Watch this video on Ataxia

WILLIAM’S SYNDROME CLIICK HERE TO GO TO THE WEB SITE

William’s syndrome is a disease that affects one out of every 20,000 babies.  It is a genetic defect and is not curable thus those affect it will have it for life.  The disease is known for the myriad of issues that affect each person and the lifespan and quality of life is different for each individual with the disease.  The symptoms can include varying degrees of issues ranging from high blood pressure, diabetes, sensitive hearing, narrow arteries, and poor vision just to name a few.  Some experience all of these and some hardly any.

Stephanie has a severe case, but this also means she experiences the positive symptoms to a greater degree.  For example, people with William’s syndrome are extremely friendly and she is no exception!  From her years as toddler, she would explore social situations with glee often inviting herself to other people’s picnic tables or beach towels for a snack and a conversation!  Somehow animals see this love within her.  She can bring out the best in cats who fear most other people.  As an animal lover, she is excited at any opportunity that she is given to work at an animal shelter or simply just meet a friend’s pet.

The William’s Syndrome Association has been instrumental in helping us not only understand the disease, but in gathering together those affected by it to expand our knowledge, share insights, and simply be together.  While it is never easy to have a sick loved one, Stephanie has helped us all to appreciate more within our lives.  She is an inspiration in her strength, positive attitude, and love