A Tribute to Rare Diseases

heather — Mon, 06 Feb 2012 19:55:47 +0000

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.

Meet People with FA

Alena and Alisa

Alena is in fifth grade and is the oldest of three children. Her pets include two dogs and three gerbils, whom she loves very much. Alena plays the violin, is excellent at spelling, enjoys reading, loves horses, and hopes to be an artist, singer, songwriter, violinist, movie director AND author when she grows up! She is very talented, writing songs in her head and always coming up with new ideas for stories.

Two years ago, she was also diagnosed with Friedreich’s Ataxia. Her condition first became noticeable when she was only 5 years old. We noticed that she had trouble learning how to tie her shoes, button her jeans, roller skate, ride a bike and jump rope. Then we began to notice that she was very clumsy when walking and would trip and fall in odd ways. It wasn’t until she was 9 years old that we discovered that the worsening in her balance and coordination was caused by Friedreich’s Ataxia.

FA makes it difficult for her to write in school and she uses a laptop computer in class; she also is no longer able to participate in P.E. Having FA means that riding a bike or rollerblading is not possible and she becomes tired very easily. Alena uses a wheelchair when we go to events where there are big crowds or when there will be a lot of walking. Having FA also means that she spends a lot of time at doctors’ appointments to monitor her heart and spine. So far, the supplements that she has been taking have helped to keep her heart healthy, but there is nothing we can do to stop the progression of her ataxia or to stop aggressive curvature in her spine.

Last year, Alena received a Disney Cruise from Make-a-Wish. She wanted something that the whole family could do together, so the cruise was perfect. We were picked up in a limo and got VIP treatment at the airport. Alena got her hair braided in the Bahamas, met Mickey Mouse and all the Disney Princesses, swam in the ocean, saw musicals, saw fireworks at sea during the Pirates in the Caribbean deck party, hung out with other kids the Oceaneer’s Lab and even graduated from D-Sea-U (Disney Sea University)! It was truly the trip of a lifetime. Alena’s younger brother, Adam, said his favorite part was the food and swimming (in that order)!

Recently Alena has developed problems swallowing, and needs to use a thickener in her beverages. Her scoliosis has also progressed significantly over a short period of time; so, the time has come for Alena to undergo spinal fusion surgery to correct her curvature. Our plan is to have the surgery done after school gets out for the summer, right after MDA camp.

Alisa is Alena’s younger sister. She loves school and loves reading. She loves to play with her baby-dolls, Barbies, Polly Pockets and Groovy Girls. She also loves art and will spend hours drawing, coloring, painting, cutting and gluing anything she can get her hands on. But mostly she wants to do whatever her big sister Alena or big brother Adam are doing. Alisa may be smaller than most kids her own age, but she makes up for her small size with her love of life. She has a lot to say and loves to sing and laugh.

When Alisa was in kindergarten we felt the same familiar pang in our hearts. One of Alisa’s teachers commented on how Alisa would suddenly fall down while the class was walking in line and how she would lose her balance while standing still in P.E. class. Shortly before Alisa’s 6th birthday, she was diagnosed with Friedreich’s Ataxia. Being only six years old, Alisa had mixed feelings about her diagnosis. She already had an idea of what it was after seeing her sister deal with it every day, so she already knew that basics. Her first reaction was excitement, proclaiming, “Yes! Now I can get a Wish too!” Followed later by a more profound realization when she said, “I don’t want to be like Alena.”

Upon receiving the diagnosis, Alisa was evaluated by a cardiologist who found that Alisa has moderate cardiomyopathy. We were not totally surprised by this since Alisa has complained of chest pains from time to time. Alisa’s ataxia symptoms are still very mild, but we know they will get worse until a treatment is found.

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

January 2012

heather — Wed, 01 Feb 2012 23:04:19 +0000

Happy New Year and welcome to 2012!

I did not post in December because I was extremely busy getting OPTN holiday mailing out on time before Christmas. I mailed 950 letters. I like to think they are Nicholas’s fan club. I feel lucky that so many would be interested in our son and our lives. It is quite humbling to know (beyond my family) so many friends and even strangers follow us and care. Honestly it lets me know that there is a lot of good people in our world.

Well if you have been reading our web site all along you know we still never sit still! December whirled by like a hurricane. Stressful but also enjoyable with decorating, shopping, gift giving, holiday parties.

December ended this year with another trip down to Disney the week before Christmas. This year my parents joined us and gave us a big hand with my boys. We stayed at a Disney resort because it is on the monirail and easy access to Magic Kingdom and Epcot. Staying on the monarail is easy with a wheel chair. Just walking into this resort smelled like fresh flowers and was so elegant…Chris knew Nicholas would appreciate this smell as when he was well he loved smelling the flowers when he was well

Nana and Grampy

Our days were packed but we also were not rushed. We spend time at the Magic Kingdom, Epcot and took the bus to MGM. I think Nicholas had a fantastic time. His favorite ride was the haunted house as he squealed in “Boooooo” the whole ride. He tired easy and became overwhelmed by the noise, we took a lot of breaks, ate a lot of food and were off into the park again. Nicholas enjoyed the characters and the shows the most. He was often all smiles or his eyes appeared to be following along intently. The trip down the Disney this time was much more work as Nicholas needs have increased since the last visit 12 months before. Worth every minute and we continue to make memories for our family.

We did have a incident with Nicholas safety seat on the ride home from Disney 2 days before Christmas. We were asked to take Nicholas out of his safety seat because it did not indicate on the seat it was FAA approved. But this is the same seat we had flow down to FL with from NH and we had not had a problem. It would be a problem not using it because Nicholas is unable to support his own body. The safety seat was our best and safest option but we were still asked to take him out of the seat to be stowed under the plane or get off the plane. Nicholas did have a very difficult ride on our laps. He cried most of the trip as he was very uncomfortable and it was hard to sooth him to relax. I was a nervous wreak trying to keep him hydrated and on top of giving his medications held on my husband’s lap during the flight was not an easy task. Most of his medications are to prevent seizures and he takes them 10 times a day. In the end like any mom of a crying baby…I ended up crying with him…. It was a stressful trip but we made it home safe and Nicholas was back to himself once we were home. We have been talking with southwest airlines about our flight and they have apologized. Our hope is that no child or adult with a disability will have to fly uncomfortable. We understand it was miscommunication and the rules are not clear for the disabled flying. We hope to make the rules clear and to get as many safety seats approved as we can for disabled children and appropriate seating for any one who has a disability. We are working together with the airline to get this moved forward in the right direction. A positive that came out of this situation was that we did get media attention toward awareness to batten disease.

Thank you for the outpouring support for our family and Nicholas in the southwest incident.

WMUR Channel 9 We are in the news! Click here to watch

Holiday Letter 2011

heather — Wed, 18 Jan 2012 03:51:52 +0000

Happy Holidays 2011. This is the letter that I sent out to 950 + friends of Nicholas as our OPTN 2011 memories. . Thank you for your continued support and reading my web site……

It is hard to believe it is December 2011 already and at the year end. Even though it is a busy time of year and it whizzes by so quickly….I do have to say I love hearing that Christmas music over the radio and in the stores. It makes me reflect on memoires the year and past years.
Where were we in the year 2011? In January we took a trip down to Disney World in Fl because Chris had a BDSRA (Batten Disease Support & Research Association) board meeting in Orlando. Nicholas still loved all the rides. Fortunately we were stuck down there for 4 more days than planned because of a huge winter storm at home shut down the airports in New England. Nothing like being stuck and Disney!

One of the best parts of the winter months was making memories in March where Nicholas participated in NEHSA which stands for New England Handicapped Sports Association. He skied Mt. Sunapee in NH. Nicholas was lucky to be guided by Tom Kersey who is a board member and executive director of NEHSA. We were honored to be skiing with him. This is a day brought tears to my eyes because it brought so much joy to Nicholas. He squealed in excitement as he went down the mountain, “Again, Again, Again” after each ride.

Throughout the winter and into spring Nicholas continued to ride his horse Collin in Goffstown through UpReach Therapeutic Horseback program. Nicholas loved riding but I don’t think his body always agreed as with each session it became more difficult for him to hold up his body on the horse. He rode as long as he could in to the summer but it became too difficult for him and we sadly had to stop this cherished activity.

In April the Mom’s Club in Bedford had their 3rd

annual Easter egg hunt to benefit Our Promise To Nicholas foundation. There were approximately 400 children attended this event at the NH Sportsplex that raised $3,500. Nicholas picked up the first egg before the event began, and this became a heartwarming photo in the Union Leader newspaper. Thank you Bedford NH mom’s group for your volunteering and hard work to put this event together for us. And thank you to the St. Anselm College nursing students and the Delta Gamma Zeta Sorority members who all helped to make this a great day for the kids!

Nicholas started baseball in the spring. It was much more difficult this year but a few smiles from him made it all worth the effort to get him out onto the field. William did a great helping Nicholas and our crew ran around the bases with every home run.
On June 25th we had our 3rd annual FORE! Nicholas Golf Outing and Charity Dinner at the Stonebridge Country Club in Goffstown NH. Over 150 people attended this event and we raised $21,000. This year we were joined by Congressman Guinta and his wife Morgan, we rocked to local favorite band Common Knowledge band. The top prize this year was a 55 inch plasma 3D TV, and many other donated items make for great fun for all who attended. We thank a family friend Kathy Davis of Shaklee, (http://ourpromisetonicholas.myshaklee.com/us/en/) who continues to give our foundation support!

School finished in the spring for Nicholas and we continued onto our summer fun. Going up to Cabot Vermont for the 4

th of July, riding in Grampy’s old Model T, boat rides. Took a trip to North Conway to Story Land and Santa Village, joined his cousins at Lake Winnipesauke in NH for a swim in the lake and had the pleasure of riding on a speed boat at Lake Pocotopaug in CT with cousin Greg Dainiak and his wonderful family. And during the week Nicholas remained busy going to summer school and getting all of his needed therapies. Nicholas continued to decline slightly each day but we moved forward “making memories” for our family.

At the end of July, Nicholas precipitously lost his ability to chew his food. It was very stressful for me as I struggled to find ways to keep Nicholas nourished. I learned how to puree any and all his favorite foods and fill 60cc syringes which were used to feed him. He did not lose his ability to swallow and I could tell my boy was hungry. Taking up to 2 hrs at each meal to feed him was stressful and tiring on both of us. Over 4 weeks he lost 7 pounds and I knew the decision to get a mic-key button (feeding tube) was the right one, even though it broke my heart. He had surgery at the end of August and had no complications. After 3 weeks had had gained back weight, over all appeared stronger, happier and returned to eating food by mouth. He tires easily eating so we continue to still supplement his food intake with formula fed overnight. No longer is a battle to get his meds and fluids into him, and the tube is especially helpful during seizure days.

This fall Nicholas returned to a half day of school with his friends and started 3rd

grade. He seemed to enjoy being back into the routine of going to school every day and be surrounded with his classmates. He continued to receive most of his therapies at school and a few after school as well. He works so hard but also tires easily.

On October 15th we had our 3rd annual Halloween outdoor Movie night Fundraiser for OPTN. It was a big success this year raising roughly $4,500 with about 400 people attending our event. We had Wally from the Boston Red Sox, St. Anselm Dance Team teach the monster mash, The band Riveted Fate contributed to the music, bouncy houses, children games, a fancy bake sale, sponsors were Carrabba’s Italian Grill and the Meat House. This is a fun event for our family to put together as a tribute to Nicholas (who loves movies) and for the community who seems to love to keep on coming to these events. We hope that everyone enjoys them as much as we do. Thank you to our 65 volunteers to help us put this event together. We could not have done it without you!

Nicholas had a MRI in October at MGH the results showed some increase activity in the area of the brain that received treatment during surgery last year. No one is sure what this means, but we remain hopeful that the findings can help us better understand this disease and be one of the steps that leads to a cure to all the children to come with Batten disease.

In November we went rode the Polar Express train to the North Pole in North Conway in NH for fourth time with family. This experience is great for Nicholas as he remembers doing it the previous years and it helps him experience the wonder of being a child. There are many great memories we have every year here and we can look back each year and see how Nicholas has changed, but also how we have all grown from our experiences. We will continue to go as long as Nicholas is able.

We continue to “make memories” in December and getting ready for Christmas once again. I reflect back to this year on Nicholas. As I decorated the tree this year with William we pulled out each ornament and talked about who gave it to us, or where we got it (on one of our adventures) and then I pulled out the yearly picture ornaments I have of the boys. It is hard not to feel that lump in my throat and tears wet my eyes as I can see how much he has declined since last year. My handsome Nicholas who was once as strong and witty as a 4 year old and ran circles around me is now 8 and can no longer walk and talk. I now hold onto his hand, his smiles and snuggles we have together and know he is still my boy. I am not ready to let him go but I know in my heart it will soon be his time to fly with the angels. Some say it is a myth to believe in angels. I do and hold onto the feeling that I am the lucky one to be blessed to live take care of one.

I continue to “make memories” with support from my best friend and husband, my family, our friends, Nicholas’s nurses, therapists, our community and even strangers approach me about Nicholas and our foundation. I continue to feel lucky to have been given this journey with Nicholas as my son. I am lucky to have friends who love my son as much as I do. I am proud people want to know who he is and want to help us work toward a cure for Batten disease. I am humbled by the endless generosity I have received. I feel I have been given the greatest gift of life: to be given a son who is making a “mark” in the world one step at a time.

God bless all those who continue to support our foundation. We are making great strides toward a cure. OPTN continues to work closely with the BDSRA (national Batten disease organization) and other foundations throughout the country as we help to develop research that will cure this disease. The money we raise goes completely to the effort, as we have no salaries to pay. No child should have to go through this, but we have taken this as our responsibility to make sure the children to come will have a cure as we keep our promise to Nicholas.

Keep your promises and live for today by making memories of yesterday.

Hope the New Year brings happiness in your heart and peace in your soul.

Love,
Heather and Chris Dainiak

Southwest incident

heather — Sat, 24 Dec 2011 14:25:06 +0000

Thank you everyone for your support of Nicholas.

We are now home safe after our flight back from Disney World.

Nicholas is doing well, but Heather is still shaken by the incident that occurred on Southwest Airlines.

As you all know from meeting Nicholas personally or from reading his website, Nicholas has been in rapid decline with his Batten disease over the past few months. We were able to bring him down to Disney World this past week looking to create more memories with our family, understanding all too well how short life can be.

We cherish every moment we have with our children, as do all Batten parents (even when those moments can be tough, we know that everything is temporary).

As you may know, we had an unfortunate incident on Southwest airlines on the way back. We feel terrible for what Nicholas had to go through, but we also understand that other Batten families likely struggle with similar situations. We hope that by being open with these events, it will shed some light on what some people with disabilities encounter. No day is easy, but we try to make the best with what we are given.

God bless and Merry Christmas!

We are happy to be safe at home.

Click here to learn more about Nicholas and his journey:

Heather had some tough moments: How Southwest forced Nicholas to sit:

Meeting Boston Red Sox Wally!

heather — Wed, 26 Oct 2011 03:17:45 +0000

Winners of the Boston Red Sox vs Yankee’s Game.

Matt and Kristen reciently got married at Disney World .Congratulations!

Watch this you tube video of Nicholas and William meeting Wally in our basement. Click here GO SOX

October 2011

heather — Wed, 26 Oct 2011 02:53:00 +0000

Nicholas at MGH getting his g-tube placed

A quick update since Nicholas g-tube was placed on August 4, 2011. He had lost nearly 10 pounds over the summer and had difficulty opening his mouth and chewing his food. It was very stressful for both Nicholas and I so Chris and I decided it was time for a feeding tube placement. It was placed at Mass General Hospital in Boston. He got through surgery with no complications. After a few weeks of only giving him formula tube feeding he gained back his weight and strength. He was able to begin to eat by mouth again. He still can not get enough calories he needs to maintain a healthy weight. He still needs full assistance and feeding all meals but expresses a lot of pleasure while eating (saying mmmmm). He tires easily so I still tube feed him some during the day and night to make up any calories that were missing. All water and meds go through the g-tube which has been extremely helpful. Nicholas he is able to sit up into a sitting position using his arms and legs to get him into this position. He as not able to do this prior to the tube being placed.

Getting ready for surgery

post surgery

He is able to walk with full assistance a further distance. He is happier and more smiles. He even kissed me last week which he also had not done for many months. Honestly it left me in tears of joy making me feel like I got a part of my Nicholas back.

4 weeks later.....OPTN appreciation cookout

Nicholas with nurse Theresa

First day of 3rd grade

On his first day back at school he raised his hand to be weather man which he had not done that for about 6 months. His therapiest all report he has much more energy for their sessions and enjoys being busy. We will see how the fall goes and if he continues to improve or at least stop declining.

We had our OPTN Movie Night Fundraiser. We raised $4500.00 which is a great success and more than last year. Thank you to our sponsors of the event Carrabba’s Italian Grill and Meat House for supplying all the hot foods at our event. Thank you to the Boston Red Sox for your support with Wally! Thank you to Michael Ginsburg and his band “Fate Revisited”, St. Anselm Dance Team teaching the kids the Monster Mash Dance, Regal Cinema in Hooksett NH for donating the popcorn, All the bedford mom’s club, Marie Obrieter, Teressa Stauber (Simply Delish) for donation of baked good for the bake Sale Table, Beverly Davidson and her crew for running the children games again this year, Ms.Teen NH for coming to our event, Thank you to my sister Amy who organized the volunteers this year and was besides the scene setting this event up. Thank you to my mom and dad who tackled the raffle baskets, bulking mailing and many odds and end tasks before the event. Thank you for my brother’s family coming down from VT to help all day at our event. Thank you to my husband Chris you made this event run smoothly. Thank you to all our 65 volunteers from family, aunts, uncles, cousins, friends, nurses, babysitters, and St. Anselm college students. We could not have put on this event with out your help on the day and prior to the event. Thank you from the bottom of our hearts! Hope you all had fun because we sure did!

Pictures from Saturday October 15 Bedford Outdoor Movie Night Fundraiser:

June/ July 2011

heather — Tue, 02 Aug 2011 18:34:48 +0000

Welcome to mid summer. An update on Nicholas. School seemed to end quickly this spring and we quickly moved into summer fun to begin. How is Nicholas. I wish I could say that Nicholas has maintained from the last post but he continues to decline and I can see it weekly. He has had an increase in seizure activity in the month of June and we had to increase his medications. He was waking up a lot at 3AM and seemed to be struggling with myoclonic jerks which when there are a lot of them….is a signal he may have a seizure. We increased his night clonazepam and moved the time to 10PM. We also increased his morning medications because he started to have seizures at school. Nicholas is now very limited in his words as well. Only able to say mom, on and again. He has a very difficult time nodding his head “yes” but is still able to cry/whine if he is uncomfortable to express his needs. He knows we will figure it out and seems very patient. Cognitively Nicholas still seems to understand us and sometimes he can get out sounds of words to us. He still really enjoys his Disney movies and still laughs at the appropriate parts, he still enjoys potty talk giving us a lot of giggles. He is also having more difficulty holding his head up and sitting up in a sitting position.

The most recent changes have been difficult for me to watch. Nicholas no longer is able to use his walker. He can still walk but with full assistance of someone holding his body and encouragement of picking up his feet. His hands have started to continuously twitch, his fingers are stiff at times and constricted. He can no longer easily hold on to anything such as a ball or toy. We did bring Nicholas into Children’s hospital Boston to see his neurologist. His doctor reported he was not in any pain. I knew this was going to happen to his hands and arms but did not think it would start over night. We have decided not to medicate him more to help calm his fingers and hands because we don’t want him to be more sedated and “snowed”. He remains quite alert of our voices and his surroundings. He will be fitted for hand and wrist braces in the next few weeks. With a lot of tears (on my part) I had to start putting pull ups (diapers) on him as he has been having a lot of accidents. I can see when he is sitting on the potty the signal from his brain for him to urinate is slowly diminishing. Putting a diaper on a 8 year old breaks my heart. Nicholas was potty trained at 2 and rarely had accidents. To make things easier I call these diapers “big boy undies” as I just can not tell if he really knows I am putting a diaper on him.

Nicholas and his dad laughing

His eating has plummeted in the last 2-3 weeks. He can no longer chew his food as his tongue pushes the food out and he has lost his ability to open his mouth on command. . Nicholas has lost a few pounds in the last 2 weeks, remains healthy looking but I can see how his weight is going to quickly spiral downward. I have been feeding Nicholas for 3 years since his diagnosis and pushing high fat, high calorie, high protein foods. Everyday we work on getting roughly 2000 calories into him and he loves food and loves to eat so it was not that difficult. Keeping his head in a up right position he is not choking which he eats, the strength of his neck varies. Most recently I have started pureeing his food and putting it into a big syringe and syringing the food into his mouth. I know he is hungry that has not changed as he cries and gets angry when he needs food. With a very sad heart he is scheduled to get a gtube placed next week on Thursday August 4 at the Mass General Hospital in Boston. I know it is the right thing to do but it just indicates to me another significant decline in his health.

This spring Nicholas participated on the Challenger baseball team. We did not make it to many games because Nicholas has a very difficult time regulating him body temperature in the heat. But the games we did participate in he did enjoy hitting the ball and running to the bases with full assistance. Or me carrying him over my shoulder. The season ended with Nicholas being awarded a medal which was the best part of all!

Goin' Swimming

We also did take a take a trip to Story Land in North Conway NH in the last spring and also stayed at a hotel with a water park. Nicholas still loved that roller coaster and water log ride. He was all smiles and yelled “again again again”. He loved the water park. It was a little more difficult for Chris and I to get him up to the top of the water slide. We did but had to carry his 58lb body up 4 flights of stairs. They yell of excitement was worth our struggle! It was a fun short weekend vacation which created great memories for all of us!

We took a trip to Nicholas’s favorite summer place in Cabot Vermont. We rode in his grampy’s old car, made smores, took a boat ride and he enjoyed listening to the waves in the lake and the smell of the crisp clean air. When asked if he wanted to go to Vermont Nicholas raised his arm and tried to get out the words yes me me me!

Grandma and Grandpa at Lake Winnipesaukee NH

Brother William with his cousins

We also spent some time at Lake Winnipesaukee with his other aunts, uncles and cousins! Being with family is what Nicholas loves best! I can’t believe that Nicholas will be entering into the 3rd grade in the fall! Time Flies!

Our Fore Nicholas Golf Outing and Charity Dinner was a big success on June 25, 2011! We raised $21K, we had 80 golfers and 65 whole added to the evening event at our charity dinner. Thank you to all our volunteers for this event we could not have done it with out you! Thank you to our sponsors, family and friends. Thank you to Amberly Gibbs and her band Common Knowledge, Stonebridge Country Club who made our event run so smoothly. Thank you to Kathy Davis Shaklee representative who continues to give our foundation support! We are already planning for next years 4th Fore! Nicholas golf outing and Charity dinner. The date will be Saturday June 23rd at the Stonebridge Country Club. It is going to be even better than this year! Don’t miss it!

UPCOMING EVENTS:

OPTN 3rd Annual Outdoor Movie and Halloween Monster Dance Fundraiser: Saturday October 15, 2011 Reilly Field Complex County Road (near the town pool), Bedford NH 4-10PM

Movie:TBD Food: Hamburgers, Hot Dogs, Soups, Drinks Candy, Popcorn, Bake Sale, Children’s Games, Music, Prizes for the best Costume, Monster

Mash Dance Contest, Bouncy Houses, Decorate pumpkins, Raffle Baskets, Surprise Guest! First Movie Starts at 6PM, Second movie starts at 7:30PM

Volunteers Needed: Please Contact Heather at heatherdainiak@hotmail.com if your interested

Support OPTN and Buy Shaklee Products through our web site: By Simply changing brands to buy what you would buy anyways— it would benefit the OPTN foundation. Take a look and see Shaklee vitamins pack major power and handily outshine their rivals. Click here SHAKLEE Go to “search” and type in Our Promise To Nicholas” . Shaklee sells only the higest quality products. They have been in Business for over 50 years and are the leading natural and nutrition company based in the United States.

Auntie Aida with N

Isabella loving Nicholas

Model T Ride with Aunt Amy and Isabella

[caption id="attachment_1505" align="alignnone" width="300" caption="Model T Ride with Uncle Danny"][/caption]

Nicholas with his cousins, Nana and Grampy in vermont

Smores at the Camp

We are at the Red Sox!

[caption id="attachment_1502" align="alignleft" width="300" caption="Nicholas at Story Land"][/caption]

May 2011

heather — Tue, 31 May 2011 15:50:21 +0000

Happy 8th birthday Nicholas and Happy 11th Anniversary to Chris and I! Nicholas birthday was on May 9th and it is still hard to believe that he turned 8 this year. It actually was a very tough day for me to get through knowing Nicholas’s future. I spent part of the day going through his baby pictures when he was born and how besides getting married to Chris it was one of the happiest days of my life when Nicholas was born. (William’s birth too!). A big 9 pound 3 oz baby boy and absolutely beautiful at the first sight of him. I cherish every picture, video and memory of Nicholas when was younger and running, talking and laughing. One of the few words he gets out with great difficulty now is “mom” and I check him every day. Is this the day that he will not be able to say it…??? I grasp onto every last inch of the Nicholas I have today because it may be gone tomorrow. He is quickly loosing ground each day and each week. He is crying more out of frustration that he can no longer easily throw a ball, jump up on his knees and play with his toys that he played with only a month ago. We do these things for him and see the happiness in his eyes. As I am quite sure he can clearly understand us and the world around us.

It is getting more and more difficult to feed him but I am moving forward with finely cut foods, sauces, gravies, ketchup’s butters to keep him happily eating with thickened liquids. We did change back to a “thick it” brand fluid thickener because we think the “simply gel” thickener was leaving him with too much gas and upset stomach. His weight remains stable at 58 pounds.

His walking is very difficult. He got a “stander” for at home and he now uses this 1 hour twice a day. This is good for his bones, digestion and overall health. He continues with all his therapies at school and after school. He has good days and bad days so we all try to take Nicholas’ lead in therapies. He continues therapeutic horse back riding but as I watch him each week he has a very difficult time keeping his head held up but I can see he does enjoy a few laps around the rink with a few smiles.

I don’t mean to make this post be so gloomy but I have to be honest on the way Nicholas really is today. As this web site is for family and friends it is also my place for me to organize my thoughts. :) Thank you to my family and friends that continue to have endless support for Chris, William and I. Thank you for supporting Our Promise To Nicholas Foundation we will continue to work hard for a cure so no more children will have to go through the suffering that Nicholas goes through.

On a good note: Our local New Hampshire news station Channel 9 WMUR did a small story on Nicholas and Batten disease. It will air on Friday June 3 at 11PM and then air again the next day at various times through the weekend. Will post the video when it is out. We also have not seen it! Click here to view our story on TV

We did take a trip to the beach for mother’s day and both boys enjoyed the atmosphere despite being freezing cold water. Only William braved going into the water.

William

We went to Story Land and a indoor water park this month in North Conway NH. Nicholas still enjoyed the roller coaster and water log flume ride. He got his face painted as usual like spider man and most of the day he was all smiles. He loved the water slides at the water park. Chris and I hiked up 4 flights of stairs with him which was tough but worth every minute to hear him yell with delight for the 7 seconds to the bottom!

UPCOMING EVENT

Fore Nicholas Golf Outing Saturday June 25, 2011 2 PM start at Stonebridge Country Club in Goffstown NH, 18 holes of golf with golf cart include, goodie bag, dinner, live band, prizes, Raffles. Don’t miss out!!!! (Sign up here )

Fore Nicholas Charity Dinner Saturday June 25, 2011 a 7PM Stonebridge Country Club Goffstown NH. Local Live Band, Lobster, Prime Rib, Grilled Chicken, Raffle, Silent Auction here(Sign Up Here ! )

March/April 2011

heather — Sun, 17 Apr 2011 20:28:58 +0000

Spring is here! I always have to start our first line as “we continue to be so busy with Nicholas!” Every day Nicholas’s day is filled with an adventure would be the best way to describe it!

Listening to movies and ready to eat!

First, an update on Nicholas. We had our 6 month evaluation in NYC for the gene therapy surgery that Nicholas had in August 2010. Being a study, the doctors and scientists are unable to share with us their results in the evaluation of Nicholas. I reflect back in the past 6-7 months and we grateful for having the opportunity of enrolling Nicholas into this study. Even if it will only give us a few more months or weeks with him it was worth it. Nicholas is the oldest child in the study so it is hard to compare him to the children ages 2-4 going through the study now. My hope is that they are able to preserve more function when treated earlier in the disease. Looking at Nicholas subjectively we know he has significantly declined in 6 months. His speech continues to deteriorate to the point where is can say only a few words such at “mom, help, home, ouch”. Sometimes he can spontaneously blurt out a word we have not heard for a while. He is still able to use some sign language and able to use his “talker devise” with buttons to communicate his needs. By Nicholas’s expressions, head nodding, few words and sign language we know that Nicholas is using all he has to try to communicate with us and we know cognitively our Nicolas is still there. He understands us and luckily I don’t see that he is getting too frustrated. His mobility has continued to decline but he is still walking with assistance. He tires easily but there is no change in motivation to play with toys, walk up stairs (very wobbly and with full assistance) and play video games. But there are bad days when he does not walk much at all, but is comforted by listening to his favorite movies and hearing familiar voices around him. The doctors have increased Nicholas’s night tme medications as he has been waking up at 4-5AM with lots of myoclonic jerks, crying and irritable, unable to get back to sleep. We hope this will do the trick. I have had to put bed rails up in his bed because I am afraid he will fall out of bed when he wakes up. We are considering an oxygen monitor alarm to put on him at night while he is sleeping. I am up checking on him about 4 times a night, when I a not seeping right next to him. His is growing like a weed so this again might be the reason we needed to increase meds.

He is still eating well and maintaining his weight. He is 58 pounds and I am still lifting him but struggling! We met with a swallowing expert in the last month who was very impressed at how we handle Nicholas. She watched me feed Nicholas his meal which now consists of food finely cut in to very small pieces, lots of butter, sour creams (and or other sauces). The expert reported to me that it does not look like he is really chewing his food buthe is not aspirating at all. She gave me some great tips on feeding him, keeping his chin tucked, sitting up as straight as possible, change foods when he starts pooling food in his mouth (which will wake his mouth up), keep the enviornment calm around him (minimal talking around him, besides his movies) so he can concentrate on swallowing. I have ordered a “feeding chair” which will also help keep him in one spot while myself or his nurses feed him. We have started thickening his liquids with a gel thickener which makes it easier to swallow. Nicholas had a swallow study done this week, which confirms that he swallows well, without aspiration. A PEG tube (stomach feeding tube) may be in the future, but clearly not right now. However, knowing the inevitability of a feeding tube breaks my heart.

Nicholas had a dental appointment this month and had a excellent report. No cavities. Chris is very conscientious about brushing his teeth, flossing and using the fluoride gel. I find it very difficult to brush his teeth without Chris. I have contacted Nicholas’s pediatrician about obtaining a suction machine to help with the fluids as he is coughing with swishing thin liquids.

Painting with OT Erica

Nicholas continues to go to the Easter seals for occupational therapy (OT) twice a week. They do

Singing happy birthday with OT Sara

such a fantastic job with Nicholas. He loves it as he plays with the therapists Sara and Erica. Swing, horns, shaving cream, painting are to name a few things he does. The therapists are so kind and gentle with Nicholas as well as very motivating him as he plays with their toys. It is wonderful! My only regret is that I wished we had started this program when he was diagnosed 2 years ago.

Nichoals also is still riding his horse Collin with UpReach Therapeutic Horseback Riding. He always loves it but I don’t think his body always feels the same way. At the beginning of the session he is able to hold his body up and by the end he is still smiling but his body is haunched over. I think he uses every bit of his energy reserved for the ride. He is able to get the words out “walk or gooo!” Which is terrific. It is a very positive

Skiingat Mt. Sunapee

experience.

Nicholas continues to see his physical therapist Venetia who has really preserved his body and muscle strength even as he declines. Nicholas remains very strong. His shoulders are starting to hunch forward and he has clonus in his feet, legs and hands at times (which is uncontrollable tremors). We try to minimize this by keeping him as active as possible. He is using a stander at school for an hour each day and we have ordered one or home as well. This stander is imperative for his health to keep weight on his muscles and bones, otherwise he is at higher risk for osteoporosis and fractures. He is starting to have reddened areas on his ankle bones from his AFO’s so we think they need to be re-fit to prevent any skin break down. He receives a massage from Laura P. three times a week and we believe this helps him immensely to keep his body loose. His feet still give him difficulty and are very tight so she concentrates on this area the most.

The best part of this last month was having Nicholas participate in NEHSA which stands for New England Handicapped Sports Association in which he skied Mt. Sunapee in NH. Nicholas was lucky to be guided by Tom Kersey who is a board member and executive director of NEHSA. We were honored to be skiing with him. This is a day brought tears to my eyes because it brought so much joy to Nicholas. He squealed in excitement as he went down the mountain. “again again again” that is what he was saying to us.

Nicholas Wins!

So our journey with Nicholas continues. William has been asking me about angels lately. I start to walk into any church, I bow my head and my eyes fill with tears. I don’t feel sorry for myself but I do feel sorry that Nicholas has to go through the pain of this disease. I would do anything to take his place! How do I explain this to William as he asks why am I crying and he tries to comfort me. But over this two years I have slowly stopped being angry and realized that I need to find answers for my younger son as he watches Nicholas decline. At the age of 4 he has started to ask why. I am not sure how many months or years we will have with Nicholas as I take one day at a time. I put my head up now and look around me. Wow! I am lucky to be part of this unbelievable foundation making a difference for children like Nicholas. I am lucky to have a strong husband who I know loves me and is not only so busy with his own job but puts any extra time he has toward our foundation and family. I have a terrific younger son William that keeps me smiling and laughing. I am lucky to have my mom and sister who are very involved in helping us run the foundation and they both put in many hours behind the scenes to keep foundation running. Thank you to the rest of our families that are a big support system for us and help in every fund raiser. I feel lucky for the new friends that reach out to me and are not afraid to reach out to Nicholas, my family and myself. They have helped us stay positive. We are lucky to be surrounded by a community that continues to support every fundraiser, reach out to volunteer for us, or even lend us a hand personally.

Someone said to me recently “I am sorry you miss out on so much in life” My thoughts were first I don’t feel I miss out. My life is so full and I am lucky it has a lot of meaning. I am the lucky one. It always comes back to we are lucky to be able to make a difference in the children after Nicholas. There will be a cure in our lifetime; it continues to be My Promise To Nicholas! But for now I like to enjoy every minute of him.

UPCOMING EVENTS

Saturday April 16, 2011Bedford Mom’s Club Easter Egg Hunt was a huge success raising over $3,500. Thank you everyone for all your efforts. We have come to look forward to this event every year, just for the fun of it. I think by the turnout, the community feels the same way!

Saturday June 25, 2011 3rd Annual Fore Nicholas Golf Tourament Location: Stonebridge Country Club,161 Gorham Pond Road, Goffstown, NH Time: 2pm Start, Cost: $125.00 per player includes dinner, $50 dinner option available. 18 holes of golf scramble, team prizes, hole prizes, cocktail reception, music and dancing, silent and live auction. Dinner is your choice of Clam & Lobster, Prime Rib or Grilled Chicken. Contact: heatherdainiak@hotmail.com for questions.

Click here to sign up for Fore Nicholas Golf Event

FORE-Nicholas-golf-brochure-2011

Corporate-Sponsorship-options-Fore-Nicholas-3rd-Annual-Golf-Outing

Do you want to help us? We do need your help!!!!

We need volunteers on the day of the golf tournament. Please call heatherdainiak@hotmail.com

January/February 2011

heather — Thu, 24 Feb 2011 19:35:46 +0000

Happy late New Year 2011.

Christmas Eve 2010

Nicholas remains busy starting the new year. He is still walking with full assistance, walker or assistance with wheel chair at home and school. He still loves his toys (especially his trains) and Disney movies. The month of January Nicholas did experience an increase in seizures and myoclonic jerks in the early morning. We had increased his night and morning doses slightly. We had not increased seizure meds for a year and 3 months. Nicholas is growing like a weed and that may be the reason why he needed more medication. Since the surgery I have seen a decline in his speech. He will only use one word sentences or a small amount of sign language to communicate his needs. He is struggling to get the words out but he is still making many sounds. He is also having a difficult time drinking thin liquids, we have started to add “thick -it” to his fluids and that has helped. He continues to eat solid foods with no difficulty swallowing and has had no weight loss. We know that a feeding tube called “Peg or button” may be needed in the next year as we don’t want him to get aspiration pneumonia from difficulty swallowing fluids. Nicholas LOVES to eat and for quality of life we are going to try to feed him as long as we can. This breaks my heart but I know it will be the right thing to do in the near future.

We continue to wake up every day as a new one and cherish the time we have with Nicholas. We have remained very busy. After school Nicholas continues to have a very very busy schedule with his therapies every day. PT 4 days a week, OT 4 days a week, Speech 3-4 days a week, massage 3 days a week, horse back riding 1 day a week. We try to go swimming every weekend. We have also gone snow tubing at a ski mountain. It felt like we were shot out of a rocket. Nicholas yelled “again again again!” So we went many times down the mountain. The things we do with our kids!

Chris had a board meeting with the BDSRA in Orlando at the end of January. We joined Chris and went to Disney for a few days. Due to a winter storm we were stuck down there for 7 days instead of 5. Nicholas and William had a terrific time. Nicholas loved all the rides especially the roller coaster which he rode 3 times. Other rides he enjoyed were splash mountain, buzz light year, haunted house and peter pan. This time we took Nicholas’ wheel chair for the first time. I think both Chris and I were a little weary of taking it but Disney is the perfect place to take a handicap child. We were welcomed everywhere we went and easily accommodated.

UPCOMING FUNDRAISERS

Disney 2011

Bedford Mom’s club Easter Egg Hunt to benefit Our Promise To Nicholas Foundation: Saturday April 16, 2011. At the NH Sportsplex in Bedford NH. Time 9AM-11AM $5per person , $20/family. Egg Hunt, Huge Bake Sale, Games w/children prizes , Easter Bunny, Face Painting, Balloons.

3rd Annual Fore Nicholas Golf Outing and Dinner Saturday June 25, 2011. Stonebridge Country Club. Starting time 2PM

disney 2011

rolla coasta ridin' time!

Meeting Pirate Captain Jack!