“And in this world,she is my world.”

By sharing my story, I hope to create more awareness around rare diseases and to even remind people to practice gratitude in every aspect of their lives a little more, especially when it comes to our children.

So, for those of you who are new to our journey, here’s our story and how it’s been for the last thirteen years of our lives….

I found a quote that hits the nail on the head when it comes to how we first got Jada’s diagnosis, and it’s

“Everybody has gone through something that has changed them in a way they could never go back to the person they once were.”

At eighteen months Jada wasn’t walking properly and I knew something wasn’t right. Everyone else said I was being silly and I should just give her time, but I knew that wasn’t the case.

I booked an appointment to see her Paediatrician who then confirmed that Jada’s head circumference was a concern and we should take her for a scan. At this stage you can imagine the height of panic going down already.

The reason to go for a scan was to see if her skull wasn’t growing, resulting in her brain being squashed and messages from her brain to the rest of her body were being delayed.

Doc still told me it’s a ‘simple’ procedure. They cut her head open, put a plate in, create some space and problem solved…

I think I sat there staring at her for about five minutes like she was mad, thinking I’d allow this. Little did I know, I should’ve been praying to God that were the case.

Jada’s results came back fine, her skull and brain were all normal. We received a call from her paediatrician in the evening telling us she needed to speak to us, but she would like to speak to us face to face, and we all know that she wasn’t calling us over for a glass of wine to celebrate good news!

And just like that, with no warning or no choice, my life was forever changed. That night we sat at Sandton Clinic and were told that our monkey… our baby girl… has a terminal disease. They don’t know what it is yet, but they need to do more tests to find out.

And to top it off, it seems to be a very rare disease with no treatment or cure. Oh, and not many doctors know about it either.

Well let’s just say the drive home was silent. It felt like my heart was about to beat right out of my chest; I felt like I was suffocating. I couldn’t breathe.

What just happened???

What did I do wrong? What did I eat during my pregnancy that caused this? What meds didn’t I take? Was it that I didn’t exercise or because I refused to read all the ‘How to be a parent’ books?! Where did I mess up?!

How did I fail my child…?

That weekend we were booked into Sandton Clinic to run tests to confirm if monkey had Metachromatic Leukodystrophy.

Good news was this disease had a treatment. We ‘Dr Googled’ everything about this disease. If there were treatment we would get it. If there wasn’t, we WOULD FIND IT!

So, there was treatment! Bone marrow transplant.

And as if being told you were going to slice my child’s head open wasn’t scary enough, bone marrow transplant sent me running!

But it needed to be done. So, the plan was, call Dr Esolar. Genius woman behind this all! The next day we had a skype call with her and she said we need to get to the United States ASAP!

And we did exactly that! Within two weeks we were booked into Pittsburgh Children’s Hospital to meet every single doctor and have every single test done on my poor baby, to confirm what awful disease she has.

Test after test. Tear after tear. My brave child got through it all. I thought my heart ached for her when we had routine inoculations done, well I had another thing coming in Pittsburgh!

What was most frustrating was every test came back normal, fine, negative…. we were left with the unknown.

There was only one disease left… Vanishing White Matter Disease. To be told, ‘Go home, there’s nothing we can do for her’ …. it ripped my soul to pieces. So, the result is just go home and live a ‘normal life’ until you get results back for Vanishing White Matter disease.

So instead of Jada’s 2nd birthday being a celebration of life… 17 May 2012 we were on a 21-hour flight with our terminally ill child heading home with no treatment, no cure… no hope!

On 24 August 2012 it was confirmed that Jada had Vanishing White Matter disease. And so, the reality officially sunk in… my child is dying.

Now I must become friends with this disease for it to play nicely with us. This friendship was very one sided…

Because it was just going to take and take and take from Jada.

It will take away her ability to use her limbs, To talk To swallow To hear and eventually take her life.

But Vanishing White Matter, you may have robbed her of so many things, but you will never take away that smile. That loving heart that knows of nothing other than love and acceptance.

So that’s our story, diagnosed at 2 years old and we celebrated her 13th birthday this year on the 17 May.

She is unstoppable….

In March, my anxiety was already through the roof, as I knew we had Jada’s annual check-up with her specialist Dr Aduc at Sunninghill Hospital. That anxiety peaked to absolute heartache after I got the news about a very close friend and fellow mom in Australia whose precious girl had just passed away from VWM. Holly Burns was only 11 years old.

I refer to these appointments as our reality checks. Our reminder of what’s actually happening, truly living with a child with a terminal rare disease.

At this appointment we heard new medical words…. scary ones we weren’t prepared for…

Osteoporosis
Scoliosis
Worsening of the hip
Spml- selective per cutaneous muscle
release surgery
x-rays up on the wall
Previous x-rays on the computer.
It was overwhelming to say the least.

How can all of this be going on inside of that tiny little 27kg body of hers, HOW??!! But still she’s smiling at me whenever I call her to check if she’s okay.

Can we not just climb back into our little bubble and carry with life?

The answer is NO, because the reality is, my child has an extremely rare disease, robbing her of the ability to live a normal, pain-free life, and its killing her slowly.

Her hip is bone on bone and centimetres away dislocation. Her doctor says how she isn’t in pain is unbelievable. Major surgery is not an option as four hours under anaesthetic is a death wish for any child with VWM.

We need to get her into a spinal brace as soon as possible to stop the scoliosis from worsening, because as she gets older the curve will bend, resulting in her ribs puncturing her lungs. This also needs major surgery to be corrected and could kill her (a beautiful girl Chloe lost her battle to VWM after having this exact surgery two years ago) … This is all what lies ahead for my 13-year old child.

No adult, never mind a child should have to go through this. No parent should have these fears. But here we are. This is our reality.

So here we are, almost at the end of the year and few months since our check-up and we’ve had to tackle a few of those ‘scary new words’ I mentioned.

Since Jada’s check-up in March, she has been casted and her spinal brace is in production. We did minor surgery on her hamstrings and adductors to relieve the hip dislocation, and she also had her first dose of her osteoporosis treatment at the beginning of August. She is currently recovering from her surgery, but as expected, handling it all like such a warrior.

Her little body has changed so much, and as these changes happen, she requires new medical equipment.

If I asked you how much a medical stroller cost, what would you guess? R5000? max R10 000?… they are R25 000. What about a medical bath seat or electronic wheelchair? These are standard items bought at triple the prices when it comes to equipment specifically casted for her such as her spinal brace, Ankle-Foot Orthotics. Let’s not get started on the price of supplements. My point is, raising a child with a rare disease and special needs, also means wishing you won the Lotto every month because this life comes with a hefty price tag on it too that we can’t negotiate. So, we continue fundraising to assist with medical equipment, bills and treatments currently taking place.

If you’ve met Jada or followed our
journey about this beautiful child of
mine, you will understand that the
world needs her in it… we need her in it.

Bank details:
Jada Ann Penprase
Account Name: Nedbank
Account Number: 1210705494
Type of Account: Current
Branch code: 198765