Suzanah Joy 2.0

Suzanah Joy Hofer

It is with great sadness that in late 2019, Suzanah, our youngest niece who was 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.

Today (and by way of update), Suzanah is unable to walk, or even stand. Sitting on the floor by herself is a short exercise. Her hands are losing function. She can squeeze your hand tight but can’t use her pincer grip very well. This means feeding herself has become challenging. Suzanah is mostly unable to turn over in bed while sleeping. So once she has fallen asleep on her side, Sean turns her onto her back straightening her legs, arms and spine.

In October 2021, Suzanah had surgery to place a Mickey button (feeding tube) and remove her gallbladder. The Mickey button allows Suzanah to receive her daily nutrition and medication. She can still eat and drink very slowly, however three quarters of her daily intake goes through the Mickey button. While the Mickey button has been a real blessing when it comes to meal times, it does require hours of prep and cleaning (a total of 26 syringes a day are used for food and medication).

The family are very grateful for all the support they have received to date, including the $18,705 fundraised in 2020/2021. With that money Sean and Gabi have been able to modify their home to better suit Suzanah’s needs. For example, they have attached a ramp from the garage to the house to make it easier to get Suzanah inside. Suzanah has a new bed, that goes up and down, has a seated position and side rails to prevent Suzanah falling out. The bath lifter is the most recent accessory, it has a back rest and goes up and down into the bath. It provides much needed support for Suzanah when bathing.

Other health aides that have been able to be purchased are Ankle foot orthosis, these help Suzanah’s feet from turning inwards towards each other to prevent her muscles/ligaments/tendons becoming strained. A specialised communication device that has been fitted with EyeGaze which allows Suzanah to use her eyes to click on a button or function when her arms and hands get tired. Finally, a more powerful wheelchair which has a high-low function, and a tilt function. Great for changing the seat angle and pressure points.

Friends and family from all over the world have continued to reach out, since the closing of the original fundraising page, wishing to further support Suzanah. Therefore, we have made this page available for any future generous donations towards the continual support of Suzanah.

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.