's Dream Journal
Motto: "You go girl"
Diagnosis: PCDH19 Epilepsy
High School Team: Lake Travis Theater
It's Isabella's 15th birthday! We are so blessed to have Isabella and her family in the CC4C family 💜💚
Happy Birthday, Isabella! From your CC4C Family
With a diagnosis of PCDH19 Epilepsy, a rare form of childhood-onset epilepsy, 14-year-old CC4C Champion Child Isabella and her family had been searching and advocating for years, in an effort to manage daily life with her condition.
“I felt like the door was closed - we were done. We’d tried it all. Maybe someday new medications would be approved, but we’d tried diets, surgeries, all of it,” said Isabella’s mom, Sara.
Isabella joined the CC4C family as a Champion Child in August, and her mom joyfully shared that it felt like the door swung wide open.
“I didn’t even know this was a prayer that could be answered – I don’t know what CC4C will mean for Isabella, but I already know it’s life-changing. We’ve gained a network to lean on and a place to ask questions, get new treatment ideas, maybe lead us a to a new doctor – I have no words because there are already so many intangible and incredible things that have come from it.”
As the family learns more about the CC4C network of supports, Isabella’s mom shared an appreciation that there is programming for everyone – support groups for moms, an understanding of the need for sibling support and most importantly – removing financial barriers for families facing complex treatment, therapies and diagnosis. “What makes CC4C stand out is the way they wrap services around the entire family and child. There are programs that do one or the other (or focus on health but not wellness) – we love that CC4C does it all. We’re so grateful.”
By wrapping Isabella and her family in the CC4C circle of support, you’ve not only provided direct financial assistance for expenses not covered by insurance, but also offered the priceless gift of hope. We’re grateful to you for holding the door open for Isabella and all CC4C children.
“What we want more than anything is for Isabella and her siblings to have a community - and people outside of us who support them,” says CC4C Champion Child Isabella’s mom, Sara. To prioritize that value, the family moved from Iowa to Texas several years ago to be closer to extended family.
Isabella has also benefitted from a network of strong special education support team at her school, her church youth group and family, and participation in theater and dance at her local cultural arts center.
With a diagnosis of PCDH19 Epilepsy, a rare form of childhood-onset epilepsy, daily life is complicated enough for Isabella and her family – let alone the disruptions caused by COVID-19.
Because of her medically complex condition, Isabella and her two siblings are quarantined at home with their parents and participating in school and other activities virtually. In some ways, this has allowed Isabella the additional flexibility she needs to do things like nap or rest between classes, but as a people-person, it’s hard on her. “Isabella loves people – she can see our extended family, but not being able to hug and show affection…it’s hard.”
Over the summer, Isabella joined the CC4C family as a Champion Child and was matched with Lake Travis High School Theater Arts as an honorary member of the team. It was a big treat for her to briefly meet with a few of them in August at CC4C’s Team Up day. She also received a bag full of bracelets with her personal motto – “You Go Girl!” - to hand out to family and friends on Team Isabella!
“Isabella was so excited, and she wrote cards to give to people along with her bracelets. For her, the visual of the bracelet with a motto means that they support HER. This is especially meaningful to us now – when we can’t see as many people in person,” says Sara.
To uplift our children safely with abundant community support, CC4C hosted the inaugural Parade 2 Uplift on October 18th. Isabella and eleven other Austin-area children were treated to a personal car parade! Each parade was attended by high school teams, each child’s VIP Advocate, family, friends and neighbors. This beautiful day not only celebrated our children, but raised over $100,000 to provide direct financial assistance to CC4C families for medical expenses not covered by insurance.
Although the pandemic has significantly affected daily life for our families, the spirit of our CC4C mission to uplift and build support teams is stronger (and more important) than ever. That is because of you. THANK YOU for being a community for Isabella and all our children and families.
Isabella (Age 14) was born after a healthy, uncomplicated pregnancy and a smooth delivery. But at 6 months old, everything suddenly changed. After multiple visits to the emergency room, an ER tech finally recognized that Isabella was having seizures.
Identification of this symptom sent Isabella and her family down a long road involving anti-seizure medications, developmental delays, and many trips to the hospital. They struggled to get the seizures under control, and every 2-3 months Isabella would end up in the hospital. At age 4, she underwent brain surgery in an attempt to stop the seizures, but then developed an infection that brought her close to death and robbed her of her motor skills, mobility and speech. She was on IV antibiotics for four months and fought her way back to normalcy with the help of lots of therapy.
But still, the seizures continued. Isabella’s family explored everything from vagus nerve simulators to service dogs and special diets. Out of desperation, they bravely made the scary decision to attempt another surgery with another doctor that felt confident he could improve Isabella’s condition. As the family patched together treatments and therapies, there were still more questions than answers in terms of treatment, prognosis and daily management of her condition.
The subject of genetic testing had come up several times over the years, but it was not covered by insurance and financially beyond reach for the family. Three years ago, one of Isabella’s doctors was finally able to get the $5,000 genetic testing costs approved by insurance. The results showed that Isabella has PCDH19 Epilepsy– a rare syndrome caused by a change or mutation of a gene found on the X chromosome. The gene may be inherited or affect just one person in a family through an accidental mutation. It is estimated there are just 15,000-30,000 people in the United States with this condition.
Suddenly, the family’s world opened up – with a diagnosis, they gained access to research on Isabella’s condition, new treatment possibilities, and perhaps most importantly – a network of other families whose children share the same diagnosis and challenges it presents.
This long, frustrating, and frightening path to diagnosis is unfortunately not uncommon among our families. CC4C children endure an average of 7.6 years of testing, 8-12 physicians and 2-3 misdiagnosis on their way to a correct diagnosis of a rare condition. Even with health insurance coverage, there are many tests, therapies and treatments that aren’t covered. A diagnosis (or multiple diagnoses) can make all the difference in the world in terms of unlocking additional insurance coverage and treatment options. Yet some therapies, treatments, and daily care supports still remain beyond what families can afford.
Your support of CC4C provides families like Isabella’s with a network of resources and financial support to pursue every possible avenue to wellness for their children. You also offer hope, encouragement, and moments of joy along the way – a gift that is both precious and priceless.