Embarking on an Unexpected Quest for a Diagnosis
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.
Isabella is a first year Champion Child with CC4C.
Stay tuned to learn how important CC4C's community is to her.