About Vivian

Born in October 2014, a nurse witnessed Vivian having a seizure at around day 2 of her life. Brainz monitoring, an MRI, and blood tests were performed. The results showed that all was well, so we went home with Vivian. Weeks later, she became limp and was breathing in a squeaky way. Her palms were purple. She was admitted to paediatric ICU and was intubated. She spent a month in intensive care, with doctors scratching their heads as to what was causing her breathing issues. She was seen by respiratory, neurology, cardiology, and even ENT. A 48-hr EEG finally picked up seizure activity and so we moved to the neurology ward, where we spent weeks trialling different medications to control her seizures. After 5 months in hospital, the doctors told us that it would not be possible to completely stop her seizures, so they prepared us to care for Vivian at home. We were given CPR training, training on how to bag & mask, training on how to administer Midazolam (her rescue medication) through her nose. We went home with oxygen, an oximeter, a suction machine and various other medical bits and bobs. Her bedroom turned into a mini hospital ward. We made multiple trips via ambulance to Emergency in the first two years of her life, but we learned over time how to care for her.

At 3 years of age, we were given a diagnosis; Alternating Hemiplegia of Childhood (AHC). We jumped online and found out how rare this disease is. Vivian is 1 in a million globally to have AHC.

Thanks to the internet, we were soon connected to other AHC families around the world.

What is AHC?

It's an ultra-rare neurological disease caused by a mutation in gene ATP-1A3. It causes paralysis on one side of the body, sometimes taking over the whole body, from minutes to days. Parents worry about regression, that causes developmental delays. This is certainly true with Vivian as she does not walk, and she is non-verbal. The other symptoms experienced are seizures, ataxia, nystagmus and dystonia. On a molecular level, AHC is caused by a mutation in the gene that codes for a sub-unit of the body's critical sodium potassium pump, interfering with body's ability to repeatedly fire nerve cells.

Is there a cure?

Prior to receiving the diagnosis, we accepted that Vivian would need care for the rest of her life. However, in 2019, Simon Frost, whose daughter has AHC, took matters into his own hands and enlisted the help of top scientists to embark on gene therapy research. Read the Washington Post article here.

Currently, there are numerous research being conducted, the key ones being:

AAV Project - Adeno Associated Virus led by Simon Frost and Dr. Katherine Swodoba

Crispr Gene Editing - Dr. David Liu at the Broad Institute and Harvard University

Vivian goes to a special school to help her learn and get stronger. She has more bad days than good days. On bad days she suffers seizures and pain. On good days we take her to hydrotherapy or the aquarium - two of her favourite things to do. Vivian does not leave home without her medical equipment, and because her medical needs are so high, she is never without one of her parents.

It is our hope that gene therapy will give her a life of less suffering and more independence.

For more information about AHC please visit:
https://www.cureahc.org/
http://ahckids.org/
https://www.hopeforannabel.org/