Eugene and Nelie Botha
Boiler superintendent, stay at home mommy
Age of parents:
40 and 33
Age: 4 years
Is this your only child? We have a son - Jayden who is 8 years old.
Diagnosis of child: In September 2017, she was diagnosed with Marble Bone Disease (Sclerosteosis), a very rare autosomal recessive genetic disorder (both parents being carriers of the gene).
Clinical feature includes, uncontrollable bone formation that leads to thickening and hardening of the skeleton incl. the scull, resulting in distortion of the face, gigantism and entrapment of the cranial/spinal nerves with consequential recurring facial paralysis, hearing loss etc.
The most dangerous feature is raised cranial pressure that can lead to sudden death due to impaction of the brain stem.
Zulé has had 4 major brain surgeries (facial nerve decompression surgeries) in Oct ‘17, Feb ‘18, Oct ‘18 and Mar’19 none without complications - CSF (brain fluid) leak, meningitis, gangrene, blood transfusions to name a few. She spent 30+hrs in theatre thus far and had long hospital stays, an operation can be anything from 6-11 hours.
She has an appointment for Sep’19 at the audiologist again, we will then also hear if she might need hearing aids as her hearing did decrease slightly and speech therapy maybe.
By the end of this year Oct’19 she will be going for another MRI and after that we will consult with the Neurosurgeon to know if she needs to have the cranial surgery (where they take the scull of to thin it out) so that there is no raised pressure on her brain.
She needs these surgeries to live a ‘normal’ life, as she loses facial expression and movement in her little face with each paralysis (20-25% each time) she had 3 on the left and 3 on the right side already
What are the biggest challenges facing your child on a daily basis?
It does affect her speech slightly, also eating and drinking is not always effortless. Imagine a trip to the dentist and you try to sip from a straw or biting your tongue for instance. She also gets irritated sometimes when you ask her to repeat what she said.
What are the happiest moments you have with your child on a daily basis?
Zulé has an incredibly colourful personality, that truly brightens our everyday. With that comes a cheekiness, she is eager to learn and do things on her own and in her own way. She sees things in a black or white way, there are no inbetweens, she either gives it her all or nothing. It’s quite a challenge for her parents, as we don’t want to break her spirit. She loves and gives without boundaries if you are lucky enough for her to have your heart. We feel truly blessed to have this little bright, funny, funky, super silly and amazing super human as our daughter!!
Are you a single parent or married? Married.
Has your special needs child had an effect on your marriage?
Not at all, I think we are handling it as we go along, we don’t dwell on things. He is the yin to my yang and vice versa we are supportive of each other. We take everything day by day.
What has your child taught you about yourself, both positively and negatively?
FAITH!! for sure. Spiritually we have grown so much. It can upset me sometimes, I don’t think this has so much to do with her circumstances but rather how I should handle certain situations. Sometimes kids will ask Zulé why she is pulling her face like that or why her eyes not the same size. Zulé will draw pictures and you would expect a heart or a flower and then she draws a heartrate monitor’s screen and then the reality of what she has had to deal with really hits you. As time passes we have learn't to expect and adapt in how we handle situations and how to keep our emotions under control. As there is no known cure yet, sometimes we worry, but when you look at that innocent brave beyond words little face - you know you have to have faith, belief and give it your all.
Are your family and friends supportive?
Yes definitely. Family, friends and our medical team of a neurosurgeon, various receptionists, a paediatrician, a neurologist - everyone is just one what’sapp message away!
Do you take time out, if so what do you do to relax?
No, we are family bound and happiest with our kids around doing things together and making memories.
What has made the biggest difference to your child’s quality of life?
Her strong will and her attitude towards this disease. The operations and the support, and just letting her be a kid!
What is your dream for your child?
We believe that there are no boundaries to the healing from the Lord God our Father. We just want her to be happy, healthy and true to herself. To know that she has the power in her to be anything her heart desires, to always be faithful and to know every storm will pass and to use that to better herself! She is our miracle and still has a lot of testimonial work ahead of her as she grows older!