Rare-disease ambassador shares her story

In 2017 Maryke Thomson was diagnosed with a rare brain condition called idiopathic intracranial hypertension (IIH) and empty sella syndrome (ESS), and today she is fighting for all rare-disease patients.

After she was diagnosed she underwent surgery to have a ventriculoperitoneal (VP) shunt (a medical device that relieves pressure on the brain caused by fluid accumulation) implanted to alleviate discomfort caused by her condition.

IIH is a neurological condition of an unknown cause defined by increased intracranial pressure (ICP) around the brain without the presence of a tumour or disease. The space around the brain is filled with water-like fluid (cerebrospinal fluid – CSF). If, due to a variety of factors, the pressure around the brain rises then the space containing the fluid cannot expand. This excessively high CSF pressure produces the symptoms of IIH. “Because it is a rare disease there are not many answers for the questions you have. You reach a stage where you think maybe this is the point of no return, and that you will never receive any answers,” she explained.

She was also diagnosed with ESS, which is characterised by enlargement or malformation of a structure in the skull known as the sella turcica, which is a saddle-shaped depression located in the bone at the base of skull (sphenoid bone) where the pituitary gland resides. In empty sella syndrome, the sella turcica is either partially filled with cerebrospinal fluid and a very small associated pituitary gland, or completely filled with cerebrospinal fluid with no visualised pituitary gland (complete empty sella).

“Was it not for the support from family and friends, I think there would not have been a slight chance of hope, but no one truly understood. Sometimes you just want to be heard by someone who is walking the same path, or has similar experiences,” she explained.

While being a rare-disease warrior, she joined the Rare Disease South Africa (RDSA) organisation for support and to help others. RDSA fights to have rare diseases recognised and treated, and provides services to help the patients in every way possible. Last year on 6 September, Maryke got the news that she was chosen as the Rare Disease West Rand ambassador to help make a difference and provide support to those who need it.

RDSA also raises funds to help provide the necessary medical care to all rare-disease patients. “Today, I can say I am uniquely positioned to help others manage the difficulties they will face. Why? Because I have been scrutinised, demoralised and I know that the emotional well-being of a patient is vital to continue doing daily tasks. Support is crucial and if your support system is on the same path as you, it’s even better,” she said.

Every ambassador raises money through various projects, including selling the Rare Disease ribbons for R10 each to help pay for medication, treatment and caregivers.

RDSA developed a Rare Voice programme for patients to receive the emotional support and encouragement they need to survive through communicating with fellow patients and ambassadors on a variety of platforms. Maryke and other ambassadors help patients to get their questions answered and to provide a safe environment.

Individuals and families directly affected by rare diseases, caregivers, medical professionals, policy-makers, companies, researchers and members of the general public can all get involved to show their support for the global rare-disease community.

For any information or to join the Rare Voice support group, patients, family members and caregivers can contact Maryke on 082 317 3101 or send an email to maryke.thmsn@gmail.com.