My Story

Tuberous sclerosis is a rare and complex genetic disorder that causes numerous tumors in many parts of the body. These tumors occur in the brain, kidneys, heart, skin, and other organs, in most cases leading to significant health problems. Darcie has approximately 7 brain tumours currently with the likelihood of more growing as her brain grows, the consequences of this include a rare form of epilepsy called infantile spasms which Darcie was diagnosed with at 5 months old. Infantile spasms is debilitating to the developing brain and often leads to cognitive, neurologic, and sensory problems. Most children with infantile spasms will have problems with their development, and may need help with daily tasks throughout their lives. 

Since this diagnoses darcie has gone on to have multiple forms of epilepsy including generalised tonic clonics and focal atonic drop attacks and has recently been diagnosed with drug resistant epilepsy meaning the likelihood of darcie being seizure free is slim and so now other attempts to control the seizures are being investigated including brain surgery, a long term ketogenic diet and VMS therapy. Darcie has reached over 30 seizures on a bad day. 

Darcie is currently only 15 months old and prescribed 5 anti seizure medications in an attempt to give her the best chance of a quality of life, due to the high dosage and yet still uncontrolled seizure, darcies risk of SUDEP (sudden unexplained death in epilepsy) is that of 1 in 50. That means everytime our little girl falls asleep, there is 1 in 50 chance she will not wake up again.  

Tuberous sclerosis complex also causes developmental problems. Individuals with tuberous sclerosis complex often develop a pattern of behaviors called TSC-associated neuropsychiatric disorders (TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction.

Along side this, darcie also fell with in the small 10% that also have Subependymal Giant Cell Astrocytoma (SEGA) which are tumours growing with in the fluid filled spaces in the brain and when they continue to grow will inevitably block the fluid from flowing causing fluid to overflow on the brain, resulting in severe brain damage or death if not treated promptly. This will mean by the time Darcie is only 2 years old she will be starting on a form of chemotherapy in an attempt to shrink this particular tumour.

we are forever grateful for all the support received from our family and friends 🤍