Parents
Frans and Kelly du Plessis

Profession:
Director at QuayStone Construction
Founder & CEO of Rare disease society of SA

Age of parents:
30

Child’s name:
Juan

Age: 6 years

Is this your only child?
No

Diagnosis of child:
Pompe and PRKAG2, both glycogen storage diseases resulting in an accumulation of glycogen in the muscles. These conditions affect all cardiac and skeletal muscles, so basically from his head to toes. Even his optical muscles, tongue and hearing muscles are affected.

What are the biggest challenges facing your child on a daily basis?
PRKAG2 brings with it a very difficult form of epilepsy to control. We have been through a lot in the last 6 years, from cardiac arrests to various surgeries, but with all that, his seizures are still definitely the hardest thing to cope with.

What are the happiest moments you have with your child on a daily basis?
Watching him move. Every time Juan successfully climbs a stair without falling over, or gets onto the couch with minimal effort, I feel like we are winning the fight!

Are you married?
Married.

Has your special needs child had an effect on your marriage?
It can never be denied that having a special needs child doesn’t have an impact on your marriage. Chronically ill children change every part of you: from your outlook on life, to your parenting, from your energy levels to your persistence. Its not easy, but it would be harder doing this alone.

We made the decision as a couple from the beginning - to be honest about how we feel and to keep communicating to each other. I have found it challenging to find the time and energy to parent our other “healthy” child (We have a daughter, Jordyn, aged 4). It is difficult to give her the time and attention she needs, when you are running on empty. We remind ourselves often to prioritize Jordans needs and wants.

Are your family and friends supportive?
Yes and no. I have found that most people don’t know how to be supportive in a way that’s practical. We don’t always need to hear “it will be okay,” or that “ you have gotten through so much before” but rather, “don’t worry about dinner, I left you a lasagne in the oven” or “ Don’t worry about Jordyn, we have taken her to a movie so you can be with Juan at hospital”.

What has your child taught you about yourself, both positively and negatively?
I think for me, as a mom, I have learnt to not doubt my instincts, that I am stronger than I ever thought I could possibly become. I have also learnt that sleep is vital, and without it you can’t function. Living through and with Juan’s chronic illness I find I have little patience for trivial and unimportant things.

Do you take time out, if so what do you do to relax?
All my Rare Disease (www.rarediseases.co.za) work fills up all my time. It’s a hobby and its work, I am blessed to be able to do something I love so much. When I really need some ME time, I sleep. You can never sleep to much.

What has made the biggest difference to your child’s quality of life?
Enzyme replacement therapy. Juan couldn’t sit or hold a bottle at 11 months old, he used to fall over and was incredibly “floppy” from being so hypotonic. ERT has given him a new lease on life. It is really hard work doing infusions every 2 weeks. It takes 2 hours to prepare, and 5 hours for the infusion, and its incredibly expensive, but without it he wouldn’t be alive, so we are just so incredibly grateful to have it.

What is your dream for your child?
For Juan not to be in pain. The only comfort I take is knowing that his life has always been this way, so he has never known a life without muscle ache and pain. My wish is for him is to be able to run free, and not ache afterwards.