Lenzen family: raises $11,062 in “Kids Bike for Henry” event, Colorado

 

I want to sincerely thank all of our amazing sponsors and volunteers for helping with our event in Colorado, a children’s bike/trike ride at the central park in our community The Farm at Arapahoe County. In attendance were approximately 50 kids who treated Henry like a rockstar. In addition to the ride in the park, we had a bouncy house (donated by Elizabeth Lowey of 8z Real Estate), a face painter (RE/MAX realtors Brandon Rossell and his wife, Svetlana), a bike decoration station, snacks (courtesy of our volunteers) and 36 dozen Dunkin’ Donuts (kind donation of Dunkin’ Donuts on Smokey Hill Rd.). Although the ride was very important to us as we raised awareness in our community, we were very focused on online fundraising prior to the event. In total, we raised $11,062 with the majority of this amount donated directly to the University of Pennsylvania’s Million Dollar Bike Ride to End Rare Disease, an amount the University of Pennsylvania doubled up to $50,000. Our event would not have been possible without the support of our volunteers, Brooke Norrell, my parents, Don and Vicki Norrell, Erika Kaye, Shawn Melnick, Annik Stahl, and Pamela Smith; our over 100 donors for their generous contributions; our friends who were able to come and participate in the ride; and our sponsors. We are truly grateful for a successful event, great turnout and fun day.​

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Pedal for Pitt Hopkins: Million Dollar Bike Ride, Philly

Pedal for Pitt Hopkins

Million Dollar Bike Ride to End Rare Diseases

Philadelphia, Pennsylvania

 

A HUGE THANK YOU to everyone who donated, fundraised, and supported us in raising money for the Million Dollar Bike Ride — WE HAVE SURPASSED OUR GOAL OF $50,000–we have raised $60,000! UPenn has matched up to $50,000, Which means $110,000 total for research!! We couldn’t have done it without all of you, so THANK YOU!

We may be small…but we are powerful.
From California to Carolina, the Netherlands to Canada, our rare disease team has rallied across the globe selling everything from jewelry and t-shirts, donuts and candles to raise money for this incredible opportunity. With less than 400 diagnosed, we are one of the rarest groups to join the ride. However, our commitment is unwavering. Despite our numbers we have led fundraising with $60,000!! We believe a group of thoughtful, committed, citizens can change the world. And we are proving it. Everyday.

Please visit our site for more information: http://givingpages.upenn.edu/pedalforpitthopkins

The Pitt Hopkins Research Foundation is honored to have been chosen as one of 15 rare disease organizations to participate in the Penn Medicine Center for Orphan Disease Research and Therapy (CODRT), Million Dollar Bike Ride.  Every dollar raised or donated will be matched by CODRT, up to $50,000.

 

 

Pedal for Pitt Hopkins PDF Flyer

 

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Liz: Sweet 16 pedals for PTHS in Philly!

The Burlington Times News
by Chelsy Stark
May 1, 2014

Liz Jennings was diagnosed with Pitt Hopkins syndrome three years ago. Ever since, she’s been defying what medical journals say she can and cannot do.

Pitt Hopkins Syndrome is a rare disease; fewer than 300 people have been diagnosed with it in the world. It’s a severe neuro-developmental disorder characterized by developmental delays, problems with motor coordination and balance, breathing abnormalities, seizures and intellectual disability.

Despite these challenges, Liz, of Burlington, will be riding her adapted tricycle for the 11 miles of the Million Dollar Bike Ride while her mother, Judy Jennings, runs behind her. The event is Saturday in Philadelphia, and will raise funds for rare disease research.

Liz grew up around bikes. Judy Jennings started working at the Elon Bike Shop on Webb Avenue in Liz’s early years, carrying her around in a Baby Bjorn after school or in the summers.

“We would go on bike rides carrying her in a little trailer,” Jennings said. “Once she was old enough to ride a bike, she really took to it and has always seemed to like it.”

Now a freshman at Williams High School, Liz hasn’t stopped pedaling.

The duo has trained for the 11 miles persistently even through hard times. Not long after completing a 5K race together, Liz got H1N1, which set her back substantially. After three weeks of recovery, bad weather hit.

“We’ve been training at the YMCA on a stationary bike,” Judy Jennings said. “She also has a stationary bike in her bedroom that we can adjust the resistance on; she’ll ride for about an hour on those.”

Neither of them is worried about completing the race, especially with Liz’s special motivation: her music.

“She has songs that she has picked out, and we are going to play music the whole time,” Jennings said. “If she’s listening to music, she’ll just keep pedaling.”

The Million Dollar Bike Ride is an event to raise research funds for the Center for Orphan Disease Research and Therapy at the University of Pennsylvania, which will then match the money raised by Team Pitt Hopkins and award a research grant.

Liz’s personal fundraising page for the event has surpassed her goal of $5,000 to go to the research. The team as a whole has raised more than $50,000, meaning more than $100,000 will be going to research for the treatment and possible cure of Pitt Hopkins.

“I’d also love to see them do some kind of research with exercise and how that can help improve the quality of life for folks with Pitt Hopkins,” Jennings said. “I think [an active lifestyle] has made a huge difference for Elizabeth.”

The age cutoff for the race is 16. Luckily, Liz’s 16th birthday is on the day of the race. It will be a very sweet 16 indeed.

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Pauca Family: Raises $15,025 in Race for Victor, April 12, 2014, NC

 

Pauca family finds positives in fight against rare disease

There will be a 5-kilometer road race Saturday at Tanglewood Park to benefit a charity unlike any other in the nation.
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Stabile family: Raises PTHS awareness, California

Everything continued to be fine at Stacy’s six-month checkup, but two weeks later the Stabile family’s world would change forever.
 
“A friend of mine was over and she said that Stacy looked kind of floppy,” Michelle remembered. “At a year she wasn’t walking or crawling or talking.”
 
And that began Stacy’s life of doctor appointments, hospital stays and physical therapy — but no diagnosis.
Stacy’s delayed development qualified her for physical and occupational therapy at Pomona’s Casa Colina and San Bernardino’s Inland Regional Center. Michelle faithfully brought her daughter to every appointment.
“When she was 3, they gave her the diagnosis of cerebral palsy, but that’s really a catchall when they can’t find anything else,” Michelle said.
 
Doctors were always testing Stacy without conclusion and Michelle had to fight the urge to blame herself.
“I kept wondering, ‘Was it something I did? Was it that Coke I drank? Was it because my water didn’t break?’ ” said Michelle, tearing up.
 
Stacy was about 8 when she started holding her breath and had bouts of hyperventilation.
 
“Then they started testing her for heart problems, but nothing,” Michelle said.
 
It was almost two years later, while in the office of Loma Linda University Medical Center’s pediatric neurologist Dr. David Michelson, that Stacy had her episode.
 
Her latest symptoms finally nudged testing in the right direction.
 
“We knew Stacy had a syndrome, but narrowing it down to which one takes time,” said Michelson, who serves as medical director for the Muscular Dystrophy Clinic and the Complex Epilepsy Team Center Program at Loma Linda University Children’s Hospital. “I was able to input all of Stacy’s symptoms in a specific database and finally came up with Pitt Hopkins.”
 
Through a blood test, Stacy’s diagnosis of Pitt Hopkins was confirmed.
 
“I knew it before I even got the call,” Michelle said. “I had gone home and researched Pitt Hopkins on the Internet and it fit Stacy perfectly.”
 
Symptoms of Pitt Hopkins include:
 
• Physical characteristics such as a small head circumference with a receding forehead comparative to the cheeks and jaw, a broad nose base with the tip full and the wing of the nose often flared a bit.
 
• Most children grow slowly and remain short compared to their parents.
 
• Low muscle tone (hypotonia) causing feeding issues in infants and slow motor development.
 
• Children learn to walk at a later age and have a stiff gait.
 
• Unusual breathing patterns that show up usually between 5 and 10 years old; during hyperventilation, the child swallows a lot more air, which causes a distended belly.
 
• Constipation and possible epilepsy.
 
• Constant moving, with many children flapping their hands when excited.
 
• Most children will not have any speech, although this varies with each child.
 
“Stacy can say ‘hi’ and ‘mommy,’ ” Michelle said. “She still wakes up every night. I still use a baby monitor.”
 
Pitt Hopkins, first described in 1978, has only a few hundred diagnosed cases worldwide, Michelson said. Stacy is his first diagnosed case, but he is sure there are many others who remain undiagnosed.
 
With such a rare disease, Michelson laments about the absence of clinical trials, which would lead to treatments and possible pharmaceuticals.
 
“There just aren’t enough diagnosed cases,” he said. “The benefits of a diagnosis is peace of mind. You see what you need to watch out for and there’s a long list of genetic complications that you no longer have to worry about.”
 
However, that’s not good enough for those dealing with Pitt Hopkins, such as Audrey Lapidus, president of the board of directors for the nonprofit Pitt Hopkins Research Foundation.
 
Lapidus and her husband Eric, an executive consultant on the CBS sitcom “Two and a Half Men,” are the parents of Calvin, 3, who at 13 months was diagnosed with Pitt Hopkins syndrome at UCLA Medical Center.
 
The foundation, led by Lapidus and other dedicated volunteers, has steered this rare syndrome into the consciousness of medical professionals.
 
“In the last two years, research is moving at a rapid pace. It has started, all over the world, catching up with other rare diseases,” said Lapidus, who also has a 7-year-old daughter. “It’s happening at the University of Alabama at Birmingham, Harvard, MIT, USC and Mount Sinai.”
 
Currently, Lapidus explained, there is no government funding and no administrative costs for the foundation.
 
“All money raised has been from bake sales, T-shirts, social media campaigns, corporate donation — all private funding, and every dollar goes for research,” she said.
 
Because of the rarity, Lapidus encourages self-awareness, research and joining the foundation’s support group in order to be the best advocate possible for a loved one with Pitt Hopkins.
 
“Parents have to become educated,” she said. “This is an opportunity to help doctors learn about Pitt Hopkins, help others get the right diagnosis and work for the best treatment options.”
 

• To donate money to Stacy Stabile’s team for the Million Dollar Bike Ride for Orphan Disease Research Fund, go to http://givingpages.upenn.edu/teamStacy

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“Hope is in my Genes” video

100 smiling faces of children and adults with Pitt Hopkins syndrome are celebrated in this video, created for Rare Disease Day, February 28, 2014.  The voices of siblings describe what Pitt Hopkins means to them, with the precious thoughts of a child.  Thank you, Kasi Thursby, for this incredible video of our children.  Hope is in our Genes.

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Rare Disease Day celebrated 2/28/14

The main objective of Rare Disease Day was to raise awareness internationally among the general public and decision makers about rare diseases/syndromes and their impact on people’s lives. This years’s theme was Care and the slogan was “Joining together for Better Care”.

Caring for people living with a rare disease has many facets. Some patients have access to medicines while others have no treatment available. Some patients are fairly independent while others require intensive physical assistance and equipment. Care can consist of special equipment, expert medical consultation, physical therapy, social services, medicines, respite for family members, and much more. For most children and adults living with a rare disease, primary care is provided by family members.

This is certainly true for Pitt Hopkins Syndrome (PTHS) which is not only a Rare Disease but is an Ultra Rare Disease. The Pitt Hopkins community helped raise awareness of PTHS and other rare diseases and syndromes by supporting Rare Disease Day on 28th February 2014.  To learn more please go to http://rarediseaseday.us/about/ or http://www.rarediseaseday.org

The Pitt Hopkins community was involved with this year’s Rare Disease Day with posting, tweeting and sharing on social media. Official hashtags, #RareDiseaseDay and #PittHopkins were used in posts to bring awareness to Rare Diseases around the world. On Facebook pitthopkins.org was tagged in posts; on Twitter @PittHopkins was tagged. 

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Enlow family: Raises $10,000 with Jeff Burst Golf Tournament, Louisiana

WVLA NBC33 | Baton Rouge News, Weather and Sports | Baton Rouge News

10,000 dollars raised to help rare syndrome that affects 250 worldwide: one case right here

 

POSTED: Thursday, December 19, 2013 – 9:19am

PRAIRIEVILLE, LA (NBC33) — Wednesdaywas a very special day for the Enlow family. The community came together to donate money to the Pitt-Hopkins Research Foundation.

It’s a foundation that is extremely close to their heart, that’s because their daughter is one of 250 people across the globe with this disease.

Carson Enlow is a three year old diagnosed with Pitt-Hopkins Syndrome. Carson will have a major developmental delay, meaning she will need the help of her parents most of her life.

But even though the disease she suffers from is very rare, there is research going on looking to find answers.

A check of ten thousand dollars was donated to the foundation, all raised by a charity golf benefit.

“It means a lot that I can make a difference right here in my community and not only the money but Pitt-Hopkins the awareness of what it is,” said golf tournament organizer, Jeff Burst.

“It means a lot and with only 250 cases around the world thee isn’t too much awareness and there are not too many people who are donating money but 10 thousand dollars will help quite a bit,” said Carson’s father, Mike Enlow

The tournament was the first of what organizers hope to make annual event and Pitt-Hopkins syndrome will be in the rotation for organizations to give back to from now on.

Carson’s father said although it is hard having a child with developmental delays, they believe they were blessed with an angel.

Carson is indeed full of life and laughter despite her setbacks.

Click here for more information about Pitt-Hopkins.

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1st Mom’s Retreat – 2013 Connect, Learn, Collaborate & Rejuvenate

The 1st PTHS Moms Retreat was held in Winston-Salem, North Carolina, November 15 – 17, 2013.  The theme of the retreat was Connect, Learn, Collaborate and Rejuvenate, and was designed in the hopes that during these 3 days we would strengthen our connections between PTHS moms, learn from our combined experiences, collaborate to help our children and allow some time to rejuvenate our bodies and minds.  Thirty-one PTHS moms from the US, Canada and the Netherlands attended this retreat.  Families from several countries joined us virtually through Webex to participate in the seminars.

Retreat Agenda:

Friday:

  • Meet and Greet:  5:00 pm – 6:00 pm, Theresa’s house
  • Dinner: 6:00 pm – 7:00 pm, Theresa’s house
  • Icebreaker event, connect:  7:00 pm – 9:00 pm, Theresa’s house (led by Diane)

Saturday:

  • Building a Community:  9:30 am – 11:00 am, Wake Forest University (led by Sue, Nancy and Lynn)
  • Rejuvenate: Group activity–nature walk to Reynolda Village, lunch, and group photo:  11:00 am – 2:30 pm
  • Getting the Most out of Your IEP and Goals:  2:30 pm – 4:00 pm, WFU (led by Theresa, Jessica and guest speaker, Anne)
  • Dr. Andrew Kennedy, Researcher PTHS:   4:15 pm – 5:45 pm, WFU (guest speaker, University of Alabama at Birmingham)
  • Communication / How are you working with your child academically?: 6:00 pm – 7:00 pm, WFU (led by Nicole & Diane)
  • Dinner at Fratellis, 7:30 pm

Sunday:

  • Morning connection, 9:00 am – 9:30 am, WFU, (led by Diane, Audrey)
  • Small Group discussion session, 10:00 am – 11:20 am, WFU, (led by Diane)
  • Wrap up and Good-byes, 11:20 am – 12:00 pm (led by Diane and Theresa)

The planning team:

Diane Krell, chair
Theresa Pauca, hostess
Audrey Davidow Lapidus
Sue Routledge
Nicole Lenzen
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Fall 2013: Six Research Awards given, totaling $330,000

Fall 2013:  Six Research Awards given, totaling $330,000

Dr. David Sweat, University of Alabama Birmingham

$80,000; one year grant

New Research Into the Neurobiological Basis of PTHS:  Researchers at UAB will investigate the cognitive dysfunction associated with PTHS, focusing on the role of the TCF4 transcription factor in learning and memory formation. Scientists will measure differences in learning between wild-type mice and a genetically engineered mouse model for PTHS. These mice will additionally facilitate the screening of potential drug candidates relevant to learning and intellectual disability in humans.

Dr. Stephen J. Haggarty, Harvard Medical School, Massachusetts General Hospital

$80,000; one year grant

Generation and Characterization of Pitt-Hopkins Syndrome Stem Cell Models:  Harvard researchers have developed patient-specific, induced pluripotent stem cell (iPSC) models for PTHS. These will be used to map synaptic pathways dysregulated due to insufficient TCF4 in the brains of individuals with PTHS. As with mice models, iPSC are tools for comparing synaptic function between normal and disease cells in PTHS, or in related “synaptic” disease (Fragile X, Rett Syndrome). Disease specific iPSC provide an additional tool for exploring therapeutic manipulation in PTHS.

Dr. Hazel L. Sive, Massachusetts Institute of Technology

$50,000; one year grant

Characterization and Therapeutic Screening of Pitt-Hopkins Syndrome using the Zebrafish:  Work at MIT using zebrafish will further expand the toolbox for studying PTHS. Zebrafish are uniquely suited to studying mutation specific effects in disease. At present, the genotype-phenotype relationships are not well understood for PTHS. Understanding phenotypic variation may additionally guide drug discovery ahead.

Dr. Courtney Thaxton, Dr. Benjamin D. Philpot and Dr. Mark Zylka, University of North Carolina at Chapel Hill

$50,000; one year grant

Identification of genetic and molecular targets for Pitt-Hopkins Therapeutics:  Work at UNC will compare and contrast the molecular consequences of TCF4 haplo- insufficiency due to gene deletion vs. effects due to a recurring point mutation in TCF4. Whole genome analysis will be used to examine pathways dysregulated by TCF4 error, whether gene deletion or mutation, in primary brain neurons. Differences in expression between these disease models are predicted to reveal TCF4-relevant pathways and guide targeted drug development in PTHS.

Dr. Joseph D. Buxbaum, Icahn School of Medicine at Mount Sinai

$20,000; one year grant

The goal is to develop, qualify and distribute ChIP grade antibodies to TCF4:  Once these are available, funding may be expanded to proceed with ChIP-Seq, a method used to analyze protein interactions with DNA.  This will set the groundwork for identifying “target” genes of TCF4 in neurons, and will augment ongoing efforts to find therapeutics in PTHS.

Dr. Tonis Timmusk, Tallinn University of Technology, Estonia

$50,000; one year grant

Signaling pathways and compounds regulating transcriptional activity and phosphorylation of TCF4 protein in neurons:  Each of us has two copies of every somatic (cells other than sperm/egg) gene. PTHS is a dominant disease, meaning that affected individuals have one mutated or deleted copy, and one healthy copy of the Ptcf4 gene. Turning up the volume of the available TCF4 protein produced by the healthy gene copy represents a novel approach to drug development in PTHS. Adding phosphate groups via phosphorylation acts as a switch to turn TCF4 on and off, thereby altering it’s function and activity. Researchers at Tallinn University of Technology will manipulate phosphorylation of TCF4 in hopes of increasing the activity of TCF4 in nerve cells, with the ultimate goal of identifying a therapeutic for PTHS.

Read more about current and past sponsored research…

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