November 29, 2010

Happy Thanksgiving

Merry Christmas from Tylor and Beary
Tylor had a wonderful Holiday weekend! We spent time with family and friends on Thanksgiving which is always our favorite. As for the rest of the weekend we were pretty lazy. We put up our Christmas decorations, watched Rudolph and The Christmas Story, looked for The Elf of the Shelf, Clumsy each morning, went shopping, made soup, and finished the weekend by watching football.

Tylor and Bono resting after getting the decorations up

Where is Clumsy?

Can you find Clumsy?

My brother, Rusty, stayed for a few days to spend more time with Ty. They always have fun playing thumb war and messing with each other.



This weekend was so special to me...this is how the Holidays should be spent! I love forward to Christmas for some more lazy time with Tylor!

November 27, 2010

Ara Parseghian Interview with NBC Sports



Ara Parseghian lost three beautiful grandchild from Niemann Pick Type C but he wasn't going to let that stop him. After watching the above video you can see that it helps to keep him fighting for all the other kids with Niemann Pick Disease. The Parseghian's have been instrumental in raising funds for Niemann Pick research. Please watch the video and visit the Parseghian's website.

November 24, 2010

Where is the Elf on the Shelf?

Tylor received a gift from my sister, Sherry, the other day. It is a tradition she started with her boys, Tate and Paxon, and thought it would be fun for Tylor! It is a little Elf that comes with a book telling about how Santa knows if you are good or bad.

The story has a few rules..first you must name your elf, Ty named his Clumsy and second the children can't touch him only look for him after returning from the North Pole the night before.

This is where Ty found Clumsy this morning

This is such a cute story and a fun tradition to start with your family....check it out Elf on the Shelf.

November 15, 2010

What has Ty been up to??

You all are probably wondering what Ty has been doing lately. I know I haven't posted much in the past couple of weeks. Tylor is doing pretty good...his seizures have increased over the last month so Dr. Patterson decided to increase some of his meds so we are watching the seizure activity very close. We need to make sure there are no side effects with the increase and that the seizures get better.


Other than that Ty is doing great. He had a lot of fun Halloween handing out the candy at our house. We got to see a lot of really cute customs. We have also enjoyed our soup Sundays! Every Sunday we make a different soup from his cookbook and watch football!! Go Packers, Cowboys, and Vikings...our house is very interesting on Sunday and Monday. Tylor is having the best season out of all of us and he lets us know it. He had a big grin on his face Monday when I told him the Packers beat the Cowboys.




Tylor is still going to PT and OT twice a week and is getting around quite well with his walker. He is loving every minute of school. When we gets home I always ask if he missed me and the answer is always the same "No". That's okay hanging with friends is much more fun than with your mom, right?


We hope all is well with you and your families!! Take care.

November 4, 2010

In Loving Memory of Sandra Kay White January 27th 1944 - November 4th 2003



It has been 7 years today since my mother (Ty's Grandma) passed away. As I sit here typing it seems like just yesterday. I can still hear her laugh, see the smile on her face when she was with Tylor, and feel the warmth of her hugs. I was 24 when God took her from me and I have struggled with that. Especially after Ty got diagnosed I felt empty inside...why was my mom gone when I needed her the most??? I probably will never know the answer to my question but after all these years I have made peace with it and I know she is with me everyday.


My father missed my mother after her passing...more than I ever could have imaged. A short time after they were reunited I saw a rainbow with both ends at that very moment I knew they were back together and watching over Tylor and I.

I have met so many people my mom touched throughout her lifetime and I am proud to tell people she is my mom!! I love and miss you so much....hugs and kisses from Ty and I.

Here is Tylor singing You Are My Sunshine....my mom would sing it to him when he was little and we sing it every night.

video

Adam's courage inspires and brings the community together

I can't help but share these amazing stories from other NPC families...enjoy.

Ever courageous Adam Recke
Adam ReckeAdam Recke is a very brave and special 9 year old boy. Having been diagnosed with a very rare terminal disease called Niemann-Pick Type C (NP-C), he is approximately only one of 500 cases worldwide. Despite this he tries to live as normal a life as possible and plays video games, sports, adores his Philadelphia teams and loves his family very much. Thanks to the support of his family and community he starts every day smiling, has parents that look at him adoringly, and hope they can make every day of Adam’s life precious.

According to the website raceforadam.org, in order to help Adam and others like him, “Adam’s parents, friends, co-workers and community bonded together to form The Race for Adam Foundation, a non-profit organization designed to bolster funding for research and awareness for this very rare disease. The Race for Adam 5K takes place each year in early summer; the Golf for a Cure takes place every year in the fall; The Ride for Adam takes place every summer; and the Corvettes for Adam takes place every fall. These events, plus many more, make Adam proud and he would love to see all of you take part in these events because all he really wants is for everyone in his life to enjoy the lives they have, and he also wants everyone to have a good time to show you his real smile.

The Race for Adam Foundation, a volunteer non-profit organization dedicated to funding research projects to find a treatment and cure for Niemann-Pick Type C disease (NP-C) and related neurodegenerative disorders, began in 2005. In July of that year, Sean and Amy Recke’s seven-year old son, Adam, was diagnosed with NP-C, a genetic neurodegenerative disorder for which there is no cure. Due to the family’s kindness and respect for everyone, the community came together to help them. They are a family who has shown great patience, strength and hope in this time of urgency. Adam has touched the lives of everyone he has met, and continues to embrace life with a perfect smile. With the support of the community, a seed of hope has grown and continues to branch through events that will promote awareness and funding for research into NP-C and related neuro-degenerative disorders. The Foundation is named in honor of Adam Recke.”

We spoke to a family friend Sheri Curtin about how she knows Adam, her work for his organization, and how his amazing story has inspired her family and community at large.

Sheri says, “We met Adam and his amazing family about 6 years ago when we relocated to Bethlehem, Pennsylvania. He was playing baseball where our youngest son started school and we heard about him from conversations at the field. We were eventually introduced to Adam and his family and discussed with them what they were going through, and asked how we could help. Sean, Adam’s father, gave me the contact information for the events that they have to raise money for research, and to help pay for the extreme medical bills they face every month. From there I became one of the committee members for the Annual Poker Run and Family Picnic for Adam. It is now a family affair for us every year. My husband cooks all day at the picnic, and my children and their friends help to serve food and set up, as well as take down the facilities after the event. Our youngest son Colin even helps as a runner with ice water for the volunteers and security people during the event. We have about 1500 to 2000 people that come to this particular event every year. It usually begins with a speech from Casey Stengl the Founder, followed by the singing of our National Anthem to a 60 mile motorcycle ride with Adam in the lead. This year we were able to get a motorcycle with sidecar for him to ride in. During previous years he rode in a convertible with his family. It culminates with a huge picnic featuring music from bands and a children’s play area, exhibitions from local stunt bike riders and skateboards. We sell t-shirts, wrist bands and annual patches to commemorate the event. People who have come once usually attend every year after that, and look forward to the event. We spend several months in advance of the event in August getting donations to make this event happen and put together baskets to raffle. It is a lot of work but if the end result is that Adam lives another day or week or month longer it is worth it, as that is more time to help find hope he will be here another year to celebrate. This event started as a small company picnic with about 40 people passing a bucket around for donations 5 years ago and has grown to what it is today. This little boy has managed to capture the heart of some unlikely heroes and has captured the essence of “it takes a village to raise a child”, because it is a community that has come together for the sake of Adam and in doing so the sake of the small group of children in the world that have NP-Type C. Every advance for Adam in looking at finding a cure will benefit every child that has this diagnosis.

One of the most important things to know about Adam and his family is that they always let Adam be a child. It is an important thing and very hard when you are faced with the constant medical appointments and treatments and emergencies that pop up with a critically ill child, and then the overwhelming medical bills, this is enough to break families up, but I see it bring the Recke’s closer together. In essence you end up living the disease’s life and not your own when dealing with something like this. This is also something I have a lot of empathy for after dealing with my oldest child having a stage IV cancer when he was 5 (which was 25 years ago). The dynamics of life change, commitments and other people in a family get lost in the disease you are dealing with. With Adam’s family things are so inspiring. Adam's parents treat all of the children in their family equally and they let Adam do all the things any boy his age would be doing. In some respects this is probably beneficially for Adam’s health as well, as it continually reminds his body how to move and what to do. Another part of this terrible disease is that Adam’s body is failing. His muscles forget how to keep him standing or walking. His motor function has deteriorated a lot since we first met him, his hearing is failing and his speech has become more difficult to understand and it's sometimes even harder for Adam to formulate words. Regardless of all of that, he has not forgotten how to smile and laugh, and one day with Adam watching him smile and laugh is always an amazing day. I am truly blessed to have met Adam and his family and to participate in his life as is all of my family. We are also blessed with being able to work alongside some of the most truly loving and caring people that call the Recke family their friends.

This past season in baseball, for the first time since being diagnosed, Adam hit a baseball during a game. It wasn’t a home run or a grand slam, it was simply a hit and something he has not been able to accomplish because of the decline in his motor function and the eye-hand coordination it takes to do this, something another child would take for granted, all from this devastating disease. The umpire of the game that day happened to be the Little League President and he was in tears to know he was there to see something so awesome for Adam. After the game the umpire was so excited he kept telling everyone that all he wanted to be able to do was start cheering for Adam as he ran to first base but he could not because of his responsibility as umpire during the game. I am not certain I would have had the same restraint as this man, had it been me in his place.

We also know that there is a food product out there that they believe they are trying to get FDA approval for, as a drug for use in children with NP-Type C. It is currently being used in animal models with some encouraging results. “

Please contact Sheri Curtin at slcurtin@rcn.com or visit their website at raceforadam.org if you are interested in donating goods, money, services or time for the event next year, as we are always looking for help!

November 3, 2010

Researcher move one step closer...

Simple blood test may diagnose deadly Niemann-Pick type C disease

A fatal genetic disorder that frequently takes years to diagnose may soon be detectable with a simple blood test, researchers at Washington University School of Medicine in St. Louis and the National Institutes of Health (NIH) report this week in Science Translational Medicine.

For patients with Niemann-Pick type C (NPC) disease, the test will make it possible to begin treatment earlier, when it is more likely to improve quality of life and to further extend lives.

“NPC is a horrible disease that is easy in its early stages to mistake for other conditions, both because it's so rare and because it has so many different manifestations,” says senior author Daniel S. Ory, MD, professor of medicine and of cell biology and physiology at Washington University School of Medicine in St. Louis. “This is an important step forward both in terms of making a definitive diagnosis much easier and in terms of providing us with a way to quickly assess the effectiveness of experimental treatments.”

There is no U.S.-approved treatment for NPC, which is estimated to affect approximately 1 in 100,000 people worldwide. Miglustat, an inhibitor of complex lipid synthesis, is approved for NPC treatment in Europe, Canada, Russia, Brazil and Taiwan.

Insights from the study may also help scientists better understand health problems in people who are carriers of the disorder, which may include 3 million to 6 million in the United States alone. Having a single mutated copy of the NPC 1 or 2 genes does not cause NPC, but the study's results have led scientists to speculate that it may contribute to heart disease, diabetes and other common illnesses.

“What we learn from studying rare diseases often can be very helpful not only for patients with those rare disorders, but also for efforts to treat much more common conditions,” Ory says.

Ory is co-director of the new Diabetic Cardiovascular Disease Center at Washington University. The interdisciplinary center, which explores the links between diabetes and cardiovascular disease, was established through BioMed 21, a Washington University initiative dedicated to speeding the development of laboratory insights into advances in clinical diagnosis and treatment.

Dr. Ory
NPC typically manifests in childhood with a variety of symptoms including problems walking, slurring of speech and difficulty swallowing. In later stages, it immobilizes patients, causing seizures, dementia and death.

NPC belongs to a class of inherited diseases known as lysosomal storage disorders. The disorder breaks down the cell's normal patterns for handling cholesterol, leading it to accumulate in lysosomes, pockets in the cell that act as garbage disposals. Ory and his colleagues had earlier shown in an NPC mouse model that this causes a buildup in cells of cholesterol that has undergone a chemical change known as oxidation. This change makes the cholesterol more chemically reactive and dangerous to the cells.

Cellular pockets known as lysosomes that have the NPC1 protein appear orange in this photo. Lysosomes that lack the protein, which is mutated in the fatal inherited disorder known as Niemann-Pick type C, are blue because they are full of cholesterol.

Cellular pockets known as lysosomes
that have the NPC1 protein appear orange
in this photo.  Lysosomes that lack the 
protein, which is mutated in the fatal
inherited disorder know as Niemann
Pick Type C, are blue because they
are full of cholesterol. 

To test if these oxidized forms of cholesterol could be used as markers for NPC, Ory collaborated with first author Denny Porter, MD, PhD, an NIH researcher who has assembled one of the largest NPC observational studies. Porter conducts regular health assessments of more than 50 patients with NPC and has amassed a collection of tissue specimens from these patients for purposes of developing new disease markers.

Scientists tested tissue samples in the metabolomics facility of the Diabetic Cardiovascular Disease Center. In NPC patients, two oxidized forms of cholesterol were present at levels nine to 10 times higher than normal. The same markers were not elevated in healthy children and adults or in persons with elevated cholesterol levels, heart disease, diabetes or other forms of lysosomal storage disorders.

“These markers have all the characteristics we wanted for a clinical test, and we're now working to develop it into a clinical assay,” Ory says. “We want to make the possibility of testing for NPC much easier for physicians to consider if they see the slightest hints that it might be present.”

Given the potential advantages that presymptomatic treatment of NPC may offer, including improved quality of life and extended lifespan, Ory also hopes to get people thinking about the possibility of adding NPC to the recommended neonatal screenings.

“We're not sure we fully appreciate the impact of this disease, which may be more common than we think,” he explains. “It could be very helpful to get a better handle on that via neonatal screening.”

Although no group that scientists screened had levels of the two key markers as high as the NPC patients, the markers were significantly increased in parents and siblings of NPC patients. Many of these family members have one mutated NPC gene and are carriers of the disease.

“These markers are indicative of an increased level of stress in cells, and this same kind of stress is seen in many other disorders, including heart disease, diabetes and neurodegenerative disorders such as Alzheimer's disease,” Ory says. “We need further research to confirm this, but it's possible that some of the same damaging mechanisms that take place in NPC patients may be occurring to a lesser degree in persons who only have one mutated copy of an NPC gene and are putting them at increased risk of other disorders.”

If carriers of the disease do have an increased risk of other conditions as a result, new treatments for NPC may also help them, according to Ory.

###

Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Science Translational Medicine 2, 56ra81 (2010).

Funding from the Washington University Specialized Centers of Clinically Oriented Research, the Dana’s Angels Research Trust, the Ara Parseghian Medical Research Foundation and the National Institutes of Health supported this research.

Washington University School of Medicine's 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children's hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked fourth in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children's hospitals, the School of Medicine is linked to BJC HealthCare.