Hi, my name is Lily.
Motto: Never Give Up
Champion Teammate: Cassie Ford
High School Team: Bowie Silver Stars
As a small child, Lily was developmentally delayed and had a difficult time eating. She learned to roll over at 11 months and was delayed with crawling and walking. At age two, she ended up in the ICU in metabolic acidosis. Doctors searched for answers to Lily’s metabolic issues for over six years. In February of 2018 she was diagnosed with a mitochondrial disease after a muscle biopsy. Her genetic link is still unknown and the doctors are still looking for answers. Lily is often hospitalized when she is ill because she can become acidotic. If left untreated, this could cause a coma or death.
Lily had whole exome sequencing done, which uncovered several gene mutations unrelated to the mitochondrial disease, including one on her RYR1 gene and a surprising one on her ADNP gene that she shares with her twin brother. That led to Lily and her twin being diagnosed with an extremely rare genetic syndrome called, ADNP syndrome.
To date only 165 people have been identified with ADNP worldwide. In 2017 Lily was diagnosed with epilepsy. She has scapular winging, and muscle weakness in her core. Additionally, Lily has malignant hypothermia (MH) susceptibility due to her RYR1 mutation. Doctors will have to take special precautions during any surgical procedures and she also shows symptoms of awake MH. MH can be deadly. Lily’s conditions cause her to overheat quickly, fatigue easily, and she has to have a cool place to go when it’s hot outside. Lily has cognitive impairment and receives special education services at school. Lily attends PT, OT, and speech therapy weekly. Despite her struggles, she is a happy brave girl and rarely complains.
Hi, my name is Braden.
Motto: Smarter Than You Think
Champion Teammate: Scott Hatch
High School Team: Hays Baseball
I was born at 34 weeks by emergency c-section with central hypotonia (low muscle tone, extreme head lag), no suck, swallow, gag or cough reflex (dysphagia), neonatal encephalopathy, severe developmental delay, optic nerve hypoplasia (ONH), hypermetropia, astigmatism, staring spells, head “spinning”, cortical visual impairment, intermittent extropia, 50% bilateral conductive hearing loss before PE tubes, 20-30% loss after PE tubes (chronic purulent otitis media, actute otitis media), tracheitis, gastroesophageal reflux disease, micrognathia (small, set back jaw), a strong, left cavovarus foot deformity, generalized convulsive epilepsy, epilepsy characterized by intractable complex partial seizures, and unfortunately, I am still undiagnosed with some sort of neuro-metabolic disorder/infantile cerebral palsy.
My good news includes the fact that I am still alive, happy and walking at ELEVEN years old this past November! I enjoy bath time, going to the beach, so I can feel the waves crash up against my belly and wiggling in the sand. I also love to swing in circles and throw rings to my nurses, teachers, therapists, mom, dad and Grandma. I also take pleasure in watching cartoons and game shows.
My mom, Crystal, is also a pretty big advocate for me and other friends like me who need Medicaid and support services to survive at home and in the public school system. My mom fully believes in these words from her favorite poem: “I asked God to take away my pain. God said, No. It is not for me to take away, but for you to give it up. I asked God to make my handicapped child whole. God said, No. His spirit was whole, his body was only temporary.”
Hi, my name is Reid.
Motto: Building Strength
Champion Teammate: David Mebane
High School Team: Dripping Springs Baseball
Reid was diagnosed with x-linked Creatine Transporter Deficiency (CTD) at age 2-½ after searching rigorously for answers to his unexplained symptoms. He battles daily with muscular and movement disorders, global developmental delay, expressive language delay, intellectual disability, autistic behaviors, and seizures.
Reid’s disease impacts the whole family as we struggle to cope with the long-term mental and physical effects. CTD is a rare, untreatable, disorder and one of three cerebral creatine deficiency syndromes.
He will live a life of constant care, but he will smile, and play and love. He infects us with his energy and brings us joy.
Hi, my name is Sophia.
Motto: Look on the Bright Side
Champion Teammate: Talaya Frazier
High School Team: Dripping Springs Cheer
Sophia was diagnosed at 4 years old with congenital Ullrich Muscular Dystrophy. This is a rare progressive disease that causes muscle wasting. We soon learned that she would be confined to a wheelchair, require a feeding tube and respiratory support, surgery to correct scoliosis and full time aid to help with all her daily activities.
There wasn’t a cure, but we knew that anything was possible. We decided to believe in miracles and work towards that. As long as it couldn’t hurt Sophia we were willing to try it. We made it an adventure and started with a stem cell treatment, and immediately started seeing positive changes in Sophia. Instead of getting weaker, she started getting stronger, and her pain had also improved. Since then, we have added serial casting, physical therapy, chiropractic care, swimming, horse therapy, massage, hyperbaric oxygen chamber, electro-stimulation biofeedback therapy, vitamin infusions and dietary changes.
In spite of all the challenges that Sophia has had, she is an incredibly happy and loving girl. She is selfless, compassionate and has a tender heart that seeks peace all around. Strong, determined, and hard working, Sophia is an inspiration to us all. She was born on Valentine’s day and truly is all about LOVE.
Hi, my name is Nina.
Motto: Joy and Love
Champion Teammate: Jeni Raymond
School Team: Trinity Episcopal Volleyball
As a baby, Nina missed every milestone, and by 7 months, we had her in every kind of therapy we could think of – PT, OT, and aquatherapy. After years of extensive testing that had not provided us with an answer, this fall, we were able to have the whole exome test done, and Nina received her diagnosis in January. She has a rare, non-inherited genetic disorder caused by a mutation on the STX BP-1 gene.
This disorder doesn’t have a catchy name – it’s simply called STX BP-1. The gene was identified in 2008, and there are only about 300 reported cases worldwide to date. Most of what is known is anecdotal, and there is a dearth of research and knowledgeable specialists. STX BP-1 is responsible for producing a protein that controls how neurotransmitters are released; because of her mutation, Nina’s neurotransmitters are not firing correctly, leading to significant intellectual disabilities, gross and fine motor difficulties, and some sensory issues. Nina requires constant supervision since she is essentially a young toddler with no sense of danger. She is non-verbal, but has some ASL signs and is able to communicate a great many things with her own unconventional system of gestures and noises.
Our Nina is loving and affectionate, joyful and happy. When she was two and a half, she took her first steps and hasn’t stopped moving since; she runs, she jumps, she climbs, and she’s fast! She is quite mischievous and is able to reach things that are seemingly out of her reach in the blink of an eye, earning her the nickname “Nina the Ninja.” She loves hugs, silly noises, Curious George, swimming, stuffed animals, musical theater, and our family dog.
Hi, my name is Greysen.
Motto: Your Voice is an Art
Champion Teammate: Kaitlin Harty
Greysen has a history of chronic illness since birth. Many bouts with croup, inflamed airway disease, chronic ear and sinus infections, unusual allergies and GERD. Greysen also had a significant speech disorder and social anxiety. Doctors weren’t sure why she was having so many continued health issues and not outgrowing them as expected. Tested for Cystic Fibrosis three times with no answers, we treated symptoms while searching for answers.
Greysen always has had an amazing zeal for life despite having to learn to adapt and continues to do so. She stopped riding her bike and participating in many activities at 6 or 7. She would trip and fall at school or with friends starting around 9 or 10, but it was never realized until two years ago when she became confined to a wheelchair that she was losing feeling and control of her legs all along. Currently she has bilateral loss of sensation in both legs and some loss of sensation in her right arm and hand. Greysen also developed irregular blood sugars, tremors, joint pain, migraines and extreme fatigue. We are still searching for underlying causes and an ultimate diagnosis.
Greysen is enrolled in a genetic study and has spent much of 2018 in the hospital, but we are hopeful in her progress. Currently, Greysen’s doing physical therapy and occupational therapy while preparing to return to finish high school. She has been diagnosed with dystonia, gastroparesis, and a very severe case of dysautonomia.
Greysen is passionate about animals and has a keen connection with them. She fosters kittens, puppies and loves training horses. She also fills her free time with art, volunteering at church, and reading.
Hi, my name is Alaina.
Motto: Hope. Strength. Drive.
Champion Teammate: Stephanie Wendt
High School Team: Lake Travis Volleyball
When Alaina was 6 months in utero the doctors said they didn’t know what was wrong but that they couldn’t find her fingers in the ultrasound. Alaina was born at 36 weeks with a healthy heart and lungs and a calm demeanor, but with finger amputations, a club foot, anencephaly, and partial blindness. Her diagnosis’s umbrella under Amniotic Band Syndrome.
She spent the better part of the first 7 years of her life in and out of hospitals as her list of diagnoses grew. In addition to her birth diagnoses she now has epilepsy, scoliosis, developmental delays/disabilities, a speech impediment, severe anxiety, and is not expected to mature beyond her mental age of around 5/6 in most areas.
There isn’t a day that goes by that we don’t wake up worried about if she made it through the night. Her epilepsy has the potential to take her away from us in one way or another but we are fortunate so far that she has been seizure free for 2.5 years! However, because of the structure of her brain, she will always have it.
Every day we learn something new about Alaina, and every day is a journey to understand her and what will happen next. We don’t know if she’ll ever be able to live on her own, but it’s important to us that she feels love and support and is surrounded by friends and family. She loves babies and helping the elderly, and her hobbies involve gymnastics, art, and anything girly!
Hi, my name is Alexis.
Motto: Never Stop Trying
Champion Teammate: Karen Quintos
High School Team: Lake Travis Cavalettes
Alexis was born with a visual impairment, and facial weakness. We enrolled her in a study at Boston Children’s Hospital when she was 3 months old. At the age of 7 she was diagnosed with CFEOM (congenital fibrosis of the extraocular muscles), now defined as TUBB3 E410K syndrome.
There are less than 30 known cases in the world. Doctors are still learning a great deal about this genetic condition, but they have linked it to cyclic vomiting syndrome (CVS), Kallman’s syndrome, and peripheral neuropathy. In the last 1 ½ years, Alexis has unfortunately developed the symptoms of cyclic vomiting.
Currently there is no cure, or even great treatment options for CVS, and Alexis often requires IV fluids and meds when she has an episode. Despite all Alexis has been through, she has the most positive attitude and is a kind and caring person. We remain hopeful for more information on this condition and better treatment options, or a cure in the future.