Operation the only solution to Miané’s crippling seizures
Ten-year-old Miané has been grappling with epilepsy since infancy, and the seizures are so damaging that her brain function is equivalent to a three-year-old’s.
Miané’s parents from Lydenburg have launched a crowdfunding initiative to raise funds for life-changing surgery that will hopefully decrease, if not heal, their daughter from her crippling epilepsy diagnosis.
According to Joleen, Miané’s mother, Miané was diagnosed with PCDH19 Epilepsy, and although she is almost 10, she has the brain activity of a three to four-year-old, which deteriorates with every seizure.
“PCDH19 Epilepsy is a genetic form of epilepsy characterised by treatment-resistant epilepsy that begins in the first year of life, often accompanied by differences in development and features of autism spectrum disorder,” Joleen wrote.
“PCDH19 Epilepsy is a rare epileptic syndrome with early onset seizures, cognitive and sensory delays, and behavioural problems. It is caused by a change or mutation of the PCDH19 gene found on the X chromosome. The PCDH19 gene makes a protein (called protocadherin 19) which helps cells in the brain communicate.
Miané’s seizure onset started when she was seven-and-a-half months old. She presented with prolonged, refractory clusters of focal and generalised seizures, which resulted in respiratory arrest on multiple occasions and an episode of cardiac arrest whilst in hospital, requiring resuscitation.
Miané’s seizures are still not well controlled, and she continues to be at risk of apnoea/respiratory arrest during events.”
Her parents have needed to administer CPR at home on two occasions. She was on different medication treatments from 2015 till 2017 and still continued having uncontrolled seizures.
She was diagnosed in 2018 with PCDH19 Epilepsy after research on her blood was done at the Red Cross Children’s Hospital.
Only then did Dr Butler decide to put Miané on a combination of different medications (Epilim + Topamax + Urbanol).
She was seizure-free for almost two years, but the seizures came back, uncontrolled and happened when least expected.
“Miané has had multiple seizures since the end of December and required multiple hospitalisations. They start as focal seizures, then atonic (drop attack) seizures then move over to clustered seizures (multiple seizures after one another – these seizures can last from hours to days or weeks).
During these events, she also stops breathing and has rapid or sometimes prolonged oxygen desaturations.
“Miané has a Paediatric Epilepsy Specialist (Dr Debbie Pearce) currently managing her epilepsy from Johannesburg. The doctor has suggested that Miané use an Embrace Watch (Empatica) to detect possible convulsive seizures and instantly alert caregivers, whether they’re sleeping next door or are living miles away. This is to create round-the-clock safety and comfort, to help people with epilepsy get help when they need it most.
“Miané now has to undergo surgery for the implantation of a VNS (Vagus Nerve Stimulator). Vagus Nerve Stimulation is a type of neuromodulation, which is a treatment that alters the activity of nerves. Vagus Nerve Stimulation involves implanting a device that sends regular, mild pulses of electrical energy to your brain stem through the Vagus nerve in your neck.”
• Joleen had to change their medical aid to cover most of Miané’s medicine and is still paying over R3 000 for medication per month as not all is covered.
The medical aid is only covering a small part of the operation and the family would appreciate any help in making Miané’s life easier and helping to pay the huge fees for the operation.
A target of R370 000 is what is needed to pay for Miané’s operation.
Anyone who can contribute can support the Back-A-Buddy account by visiting the following link: https://www.backabuddy.co.za/campaign/miane-swart-pcdh19-epilepsy
