Suzanah Joy

Suzanah Joy Hofer

It is with great sadness that in late 2019, Suzanah, our youngest niece who is only 6 years old, was diagnosed with a rare (1:200,000) disease called Metachromatic Leukodystrophy (MLD), which has no cure. As far as we are aware, there are only three other people living in New Zealand with this terminal brain disease.

MLD is an autosomal recessive genetic disorder (however it can be spontaneous) characterised by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up tissue called white matter. Sulfatide accumulation causes destruction of white matter throughout the nervous system, most importantly in the brain and spinal cord (central nervous system). This destruction of white matter causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk and eat. People with this disease also develop loss of sensation in the extremities, such as incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. This disease is eventually fatal, the life expectancy in each case varies.

Understandably, this diagnosis has devastated and shattered Suzanah, sister Cleo, mum and dad, and the wider Hofer family and friends of Suzanah. We know that the family are very grateful for all the support and prayers received over the last six months.

Given Suzanah’s prognosis, time is extremely precious and her family is in need of some help to assist with her care.

At the moment, there are two pressing needs:

1. Suzanah requires a special and specific type of car that allows for her (in her wheelchair) to be lifted into the car and safely strapped in. There will come a point where a wheelchair will be her only mode of move-ability and so will act as her car seat in this vehicle.

2. Suzanah's family home will shortly no longer be suitable for her as her bedroom is on the first floor. Her family plans to make some renovations to the bathroom and living room so that Suzanah can live on the ground floor which is more suited to full time wheelchair use. The home will need other adjustments such as ramps at the front and back door.

As you can imagine, these adjustments to vehicle and home are by no means affordable.

The family have been blessed with funding from a range of service providers, and some excellent support from amazing healthcare professionals, which all contribute to easing the additional stresses that come with this 'new normal'.

Unfortunately, while the New Zealand Government have been generous with its contributions, it by no means covers the cost. Donations are not going to ease Suzanah’s and family’s pain or suffering, however, it may reduce some financial stress and allow Suzanah and family to focus on far more important things.

Regardless of whether you donate, if you are interested in following Suzanah's journey, please follow her page on Facebook - Rainbows and Storm Clouds: Suzanah’s Story, and pray for her - for strength and peace to get through each new day.

Thank you in advance for your extreme generosity.

For any questions or further information please contact Wayne Hofer (Uncle) - wayne.hofer@gmail.com or Lara Hofer (Aunt), bird.lara@gmail.com.