Jesslyn Mulder, a seven-year-old Nelspruit local, has Angelman Syndrome (AS). Mopani Pharmacy is hosting another charity challenge, later this month, the first for 2021. We would like to host this event for Jesslyn, in honour of Angelman Day on 15 February.
Compete in this upcoming event by running or cycling on the road, on a trail or even indoors. Each kilometre completed will equal R1 donated to Jesslyn by Mopani Pharmacy. Both local and out of town participation will be welcomed, as we will have online shopping vouchers up for grabs.
Wear something blue when you run or cycle and upload a photo with your results or post it on social media using the hashtag #RunAndRideForJesslyn to help us raise awareness for Angelman Syndrome.
Jesslyn’s parents, Jessica and Hugo Mulder, shared their journey with us.
What is Angelman Syndrome?
“It is a genetic condition but non-hereditary. The chances of having another child with AS is less than 1%. It causes delayed development, problems with speech and balance, fine and gross motor skills, intellectual disability, and sometimes, seizures”, Jessica explained.
People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. They often have fairer skin tones. It is also known as Happy Puppet syndrome.
“A child is born with genes from their parents. In most cases of AS occur when part of the maternal copy is missing or damaged, as is the case with Jesslyn”, said Jessica.
When was Jesslyn diagnosed?
“We realised something was amiss when she was about a year old. We ended up at a neurologist. She went through many tests, a CT scan, MRI, blood and genetic testing. She was unfortunately misdiagnosed with microcephaly”, said Jessica.
“The information we received was vastly different from the symptoms we experienced every day. We knew something else was going on. We then took her to another doctor in 2016”, said Hugo.
“She was about three at that point. We took her to a doctor in Pretoria. She knew immediately, it was AS. Testing for AS is very expensive, but because we had direction and specified DNA and genetic testing requests, our medical-aid paid for it. We were lucky. We finally had a proper diagnosis”, said Jessica.
To what extent does this affect Jesslyn?
“Some children can’t walk, Jesslyn learned how to walk at age two. This gives her some modicum of independence. Other children develop scoliosis. To date we haven’t seen any signs of it in Jess. Most AS-kids absolutely love water. As soon as she sees a basin, she will open the tap and play with the water. Jesslyn needs to wear nappies as well”, said Jessica.
“She is very sensitive to heat. If you feel hot, it will be much worse for her. She does not fuss much though. She loves being out and about. She will hug anybody!” said Hugo.
“Her pain threshold is extremely high. She does not realise when she is getting hurt”, said Jessica.
“Whenever she gets ill, we take her to the hospital because she can’t tell us what hurts. Some AS-kids have trouble with overeating, not Jess. She is gluten-intolerant however. We can see a clear difference once she has had gluten. She has terrible bloating.”
How do you communicate with her?
“We know some children who can learn up to 10 words, Jess can’t speak at all. Sign language is very difficult to learn, as AS-kids have trouble using their fine motor skills. Most children use touch screen communication. We thought about using eye-tracking communication, but she never sits still. She had a speech therapist, but at that young age, there was no improvement. Now that she is older, we would like to try again”, said Jessica.
“We understand her cues. If she is hungry or thirsty, she will bring a plate or cup from the kitchen. If she wants to watch TV or doesn’t like the program, she will fetch us the remote” said Hugo.
Ayanda, the Godsend
“Ayanda was hired as a nanny when Jess was still a baby. We needed someone to care for her when I went back to work. She has been with us through everything. We trust Ayanda. She has no formal training, but she learned on the job with Jess”, said Jessica.
“Jess went through a phase where she would take off her own nappy. It would be a glorious mess. I’d come home to find Jess dressed in fresh clothes, hair washed and braided on the couch, smiling. I would know immediately, something happened, and Ayanda sorted everything with a smile on her face.”
Josy, the best little sister
“Josy is four. She can fight with Jess, as sisters do, and she gets annoyed because they can’t play as she does with her friends. Yet, she takes charge of things. She just jumps in and out of the pool, and so, Jess learned how to swim by herself without anyone holding her.”
“Josy amazes us all the time, she knows to do things we did not teach her. When Jess has an epileptic fit, Josy grabs her face and talks to her softly and calmly”, said Jessica.
A day in the life of Jess
“She is a 24/7 child. She cannot be left alone for a second. Our house is empty, everything is put away”, said Jessica.
“We don’t go places. Should we go to a restaurant she needs to be seated away from other people because she might grab food off their plate. She easily breaks things; she is so strong. Social gatherings are up to Jess, she’ll indicate if she’s up to it or not”, said Hugo.
“I sleep with her every night. If she has a poor night’s sleep, she will get up and walk about. She could hurt herself. Sometimes she can have a fit in her sleep. I need to be there. If it was a rough night, we can’t go anywhere. It’s not just that we are tired; AS-kids are on the autism spectrum. This means that Jess can easily get over-stimulated by her surroundings. It could be too bright, too loud or too many people. If she is tired, it will overwhelm her too”, said Jessica.
“She attends the Pro Gratia School. There, she participates in activities, and she gets to be social. She absolutely loves her friends.”
What struggles are you facing?
“As mentioned before, I sleep with her every night. As much as we lean on each other, we don’t have time for each other. We can never switch off completely. Even if we have a few hours to ourselves, we spend it worrying about Jess”, said Jessica
What would you like to say to other parents who have children diagnosed with a disability?
“You need to ask for help. Reach out to other people. When you find out that your child is disabled, it is traumatic. You need to take care of yourself. You have all these dreams for your child and her growing up. I dreamed about her going to ballet at four, and going to primary school in the year she turned seven. I imagined her growing up and getting married. All of that changed overnight.”
What type of awareness would you like for AS?
“It is such a rare condition. The community doesn’t talk about disabilities in children in general. There are less than a handful of schools. We need to have events where we could meet with each other, here in the Lowveld or Nelspruit, so we have more support. We are lucky to have found a WhatsApp group for parents with AS-kids, but they are spread out far and wide.”
“We need funding for the schools. What will happen to these children when they grow up? Many parents cannot afford to fund the schools beyond the school fees. We need community support.”
What will the funds raised with this challenge go for?
“We will pay school fees, and invest in her diet. A gluten-free diet is quite expensive. Lastly, we would like to assist Ayanda. She gets a very basic salary. We would love to be able to give her something as well as she enriches our lives on a daily basis.”