Isabella's Dream Journal
Motto: "You go girl"
Diagnosis: PCDH19 Epilepsy
High School Team: Lake Travis Theater
It has been a challenging year and a half for Isabella. She had a concussion due to a fall and since has had to be in physical therapy to support her balance and recovery. In addition to increased seizures she currently cannot be out of a wheelchair at school or walking long distance due to fatigue and dizziness in the building she struggles with long distances and the glare:lighting in the building. We got to see a new specialist and Isabella was diagnosed with cortical visual impairment. She was prescribed new glasses with a special tint and thanks to CC4C we have been able to purchase those and it seems to be helping her. Despite this set back and the various medical appointments and hospital stay this past year Isabella remains a happy child.
She turned 17 in May and is now in her senior which she is so excited about.
Additionally she continues to participate in a limited way in Puerto Rican cultural center we are a part of where she gets to dance some. She also participated in her school choir this past year.
This year carry’s with it a lot emotion as we begin disability process guardianship etc. However we are grateful for CC4C yet again as we have some resources to support and guide us through this process.
Isabella recently took senior photos and she got her make up done which brought so much joy for her and to the process. Once we have the senior pics I will post another updated but I included a picture I was able to take in the studio, some pics of her dance and one at school during her choir awards ceremony.
These past couple of months have brought about lots of medical appointments and memorable experiences. We got to attend the NAC trip in Utah and what an incredible experience for Isabella. We are humbled Isabella did things she has never done and was able to be among peers and hang out enjoy herself just like a neuro typical adolescent. We have had a lot of changes to her medications and are beginning some additional therapies OT and PT. We also have some additional testing we await but despite everything Isabella is enjoying her summer. We attended round rock express family day this past weekend and had a blast. So grateful for the prayers and community we have with CC4C. As we enjoy whats left of the summer we hope Isabella continues to improve physically and that her seizures remain controlled as we make adjustments.
Isabella's Story - an inspirational story about Isabella's journey and her connection to CC4C.
This fall has brought a lot of change for Isabella. Isabella continues to have to endure frequent medication changes as we are still trying to get the best seizure control with minimal side effects. This has been going on since beginning of this year. Additionally, she has returned to in-person learning this semester in the 10th grade and she cannot be more excited about this and finally getting to see her new high school. She has also been able to return in person to her Saturday dance class, which she loves since she has been online since the pandemic started. While Isabella’s duration in dance class has lessened, she still loves being there and participating the way she is able to.
Isabella has been struggling with energy/staying awake throughout the day as her medications cause her to sleep for long periods during the day. Her ability to walk for very long or remain standing has also been impacted. As a result, we requested a wheelchair from her doctors to support outings and her ability to engage in family activities without having to limit her participation because she cannot walk for too long. We are so grateful we were able to get a wheelchair that will support during this time. An additional perk is that the wheelchair can be modified to be positioned somewhat horizontally in the event that she has a seizure and needs to be placed in the chair. We would not have been able to pursue this without the financial help of CC4C. While insurance covered some of the costs, it has not covered all of them and know we could get this financial help was such a relief. Additionally CC4C continues to support our out of pocket medical costs for doctors appointments and medications.
This semester has brought a lot of joy and CC4C has been a major part of that. Isabella was able to participate in the Lake Travis HS Homecoming Parade (CC4C paired her as an honorary member of Lake Travis Theater). She got to learn a dance alongside the theatre group that day and ride in the float dressed as Amelia Earhart. Isabella’s joy and the theater team’s kindness, accommodations and willingness to include her is a memory that neither she nor her family will ever forget. In addition to this incredible experience, we also had a (personalized) parade where the Lake Travis theatre team again showed up with their “Royal Chair” prop so that Isabella could sit in it while we participated in the parade. She was all smiles that day and we continue to be overwhelmed by their care and generosity.
In addition to all of these incredible experiences we also received a Halloween package from CC4C and this brought joy and smiles to Isabella and her siblings. While this semester has definitely brought challenges for Isabella specifically related to mobility and energy, we cannot thank CC4C enough for the way its staff and volunteers have come alongside Isabella to make this semester so special for her. We also have so much gratitude for the Lake Travis theatre group.
Isabella continues to struggle with getting back to her pre-pandemic energy, remaining awake throughout the day and seizure control but we feel hopefully we are on the right track and will get there.
Over the last couples of months, Isabella was able to have a much needed hospital admission and VNS (Vegal Nerve Stimulator) replacement surgery. According to Sara, Isabella's mom, they saw a decline in Isabella’s seizure control and an increase in a lot of other physical symptoms over the past year. They were lucky to get an in person visit to see her specialist early in the year who was able to assess her VNS battery/device and told them that she needed a replacement of the device.
During her hospitalization last Spring, there were additional adjustments to her medications and they saw a new specialist (a Epileptologist who also specializes in Genetics) who discussed starting her on a new seizure medication that might work better with her genetic form of epilepsy. "We are so grateful to her team of doctors and CC4C for support during the spring and the financial assistance that supported this treatment and care." said Sara.
Since this hospitalization, Isabella has also received the COVID vaccine and after a year and half, she was finally able to leave the house (outside of medical appt) and get a haircut.
Up until this point, she has been doing school and her dance class virtually which was the only socialization outside of family she has had. Isabella has increased her anxiety and her frustration regarding not being able to see her peers or go anywhere in person.
Thankfully, Isabella and her family were able to take a beach trip in Texas and attend a Round Rock Express game with CC4C. "Isabella was so excited to see everyone and have the opportunity to be out in a safe way. Isabella gets easily overheated which is a trigger for her seizures. Often when we spend time outside, we know it comes with seizures." said Sara.
Aside from the beach trip, a recent experience at the baseball game allowed Isabella and family the opportunity to socialize and be in a private space that is safe and cool. Additionally, the staff were so welcoming, responsive, and kind.
Isabella is thrilled to attend school in person in the fall and cannot wait to see her teachers and check out her high school in person. She will be in 10th grade this year and is beyond excited about what the year will bring.
"We will resume her dance class in the fall again and she is excited to see everyone in person. We hope that she remains stables with her seizures and that this new medication continues to bring her stability and relief. We are grateful for the improvement and the moments of seizure freedom we do get along the way."
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.