Make a Hero: Liz is my hero, PTHS Awareness Day 9/18/13
“Liz is My Hero” by Judy Jennings (Pitt Hopkins Awareness Day 9/18/13)
http://www.makeahero.org/blog/liz-is-my-hero-by-judy-jennings-pitt-hopkins-awareness-day-91813/
September 18, 2013
Liz is my hero.
“Her journey through adaptive sports defines her persistence, determination, dedication, and concentration.
For most in this world, training and competing in four sports would be enough of a challenge. For Liz, this is just shy of a miracle.
Why?
When Liz was 6-9 months old, Liz was diagnosed with “failure to thrive”. At age 18 months old, Liz had a clinical diagnosis of Rhetts Syndrome, a degenerative syndrome resulting a loss of mobility, speech, eating, and fine motor skills.
At age 3, Liz was tested for appropriate educational programming and received a diagnosis of Autism, with communication and sensory integration severely affected. At age 6, a clinical diagnosis of Cerebral Palsy was added. At age 10, Liz it was also confirmed that she had Osteopenia in her feet. It wasn’t until Liz was 13 years old that scientist conducting a research study on genetics discovered that Liz has Pitt Hopkins Syndrome – all the other clinical diagnosis were dismissed.
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by intellectual disability and developmental delay which range from moderate to severe, possible breathing problems of episodic hyperventilation and/or breath-holding while awake (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, and distinctive facial features.
At her time of diagnosis, she was one of the 250 people in the world with Pitt Hopkins Syndrome(PTHS). Many people with PTHS have challenges with ambulation and use a wheelchair for primary mobility.
In order to maintain ambulation, Liz has undergone 3 different surgeries, countless hours of physical therapy, and a plethora of orthotics. She received intensive Occupational Therapy for 10 years to address her sensory integration disorder, and continues to receive speech therapy to progress with and support communication.
Last night I talked with Liz about doing a blog to share her journey and how sports plays a huge role in her life. Liz’s response was “Yeah!”, with a confirmed head nod communicating yes. She then looked through pictures she wants you to see.
The first sport Liz participated in was adaptive swimming. Playing in the water has always been a love for Liz, but swimming was work…hard work. Liz’s right side of her body seemed to drag when she attempted to swim. She gradually began using both her arms.
After ten years of never giving up, Liz learned to swim independently. This last year she trained all year with her Special Olympic Aquatics team. She competed in the 25m, 50m, and 4x25m freestyle relay.
Liz started recreational therapy at Kopper Top Life Learning Center at age two. She was determined to develop her muscle strength, keep her core muscles active, and to decrease her ataxia. At the time, Liz was more interested in the sand beneath the horse than touching or even getting close to a horse.
She threw tack tools and screamed. After 12 years of perseverance and determination, Liz can now ride. For safety, she continues to need a “side walker” and they ride within a ring.
When we first saw her steer the horse through the barrels at practice, tears came to my eyes. Instead of clapping, laughing, and looking up at the birds and clouds, Liz was focused and determined to guide her horse! The smile of accomplishment said it all. She had faced another challenge and succeeded!
Liz loved sledding, and had overcome and healed from all of her foot surgeries, so this past year, Liz trained in Alpine skiing with me as her coach.
Skiing was difficult for Liz. She pushed through falling once and then began to take steps in the skis. With the amazing determination and support from a certified ski instructor with French Swiss Ski College, Liz went down a portion of the bunny slope!
At age 4, Liz began working on bike riding skills. Her biggest challenge was balance and steering. Throughout the years, she has learned to steer, and at age 9, started riding an adapted trike. September 7th, Liz qualified for the 500meter time trial by completing a 500m lap independently on her trike. This was the first year she did not stop for a break.
Her determination and concentration is inspiring to all who watched. Billy Quick, a World Class athlete and Special Olympian, came over to Liz to congratulate her.
He has seen her ride over the years and said, “You gotta be proud! She did great!” That night, Liz talked to me for over 10 minutes about the day. Mixed in with lots of expressive sounds and word approximation, one sentence was distinctly clear. She kept saying, “I go, Momma.”
Yes, you did, Liz!
Pitt Hopkins Syndrome will continue to challenge Liz throughout her life. There are breathing concerns, like apnea, and many restless nights of gastrointestinal pains and complications.
We have seen that when Liz is involved in sports, her symptoms are lessened. We hope that sharing her journey through adaptive sports and the many challenges of Pitt Hopkins Syndrome will be an encouragement for anyone else persisting to overcome obstacles in life! If Liz can “go”, we can too!
Thank you, Liz for being my hero.
If you would like to make a contribution in support of research for a cure and treatment to Pitt Hopkins Syndrome, please visit Liz’s website (inspired by her cousin), which can be found at the “Millie Loves Lizzy” website –> here.”
*** Make A Hero is a registered charity & 501(c)3, creating adaptive-sports films and media content, inspiring individuals with disabilities to enjoy the freedom of adaptive sports & recreation.
Please help us spread the word about Liz, and all other heroes, by sharing this post through the social media buttons on this page, liking Make A Hero on Facebook, subscribing to The HERO Newsletter on the right side of this page, and / or learning how you can make a hero. Thank you! ***
