Leukodystrophy: A day with Bella

by | Apr 9, 2019 | PARENTING

This month I had the privilege to interview a beautiful woman who’s family has had a lot of life changes. This is an interview about their beautiful daughter who was diagnosed with a rare genetic condition. They also have a go fund me account as they are trying to raise money to buy a wheelchair accessible vehicle for their baby girl. Link to the go fund me account will be at the bottom of this interview.

1.Tell us about your family.

Our family consists of Me and my husband, our 3 kids Erik 7, Bella (Annabella) 5, Damien 3.5. My husband also has an Briana18yr old from a previous relationship . So family of 6 when we are all together.

2.How old was Bella when you realised something was wrong?

Bella was about 2.5 when we noticed her zoning out it wasn’t until 6 months later when she fell off a slide backwards and had no idea how she got there that we realised it wasn’t just normal kid ignoring us and mentioned it to her pediatrician.

3.What was the initial diagnosis?

Bella was initially diagnosed with epilepsy and after an EEG (Electroencephalography) and having a seizure in front of her pediatrician was put on medication.

4.Since then have there been other suggestions of what her condition is and is it genetic?

Since then and after 5 different medications we sort a pediatric neurologist as she was getting worse and we were over the medical trials and error. He then ordered an MRI and this showed white matter changes she was then diagnosed with Leukodystophy, a rare genetic disorder that causes degeneration of the white matter of the brain. There are 52 known types of Leukodystophy and a lot of unknown so it could be years before we get an actual type or what we should expect to happen.

5.What kind of tests does she have to undergo, how often and are they covered BY Medicare?

Bella has been through so many tests, lots of blood tests, repeat MRIs (5 in the last yr all done under general), genetics studies and in our latest hospital stay she had lumbar puncture and nerve conduction tests(All done under general at the same time as the MRI),metabolic studies and yearly EEGs. 90% of this is covered by Medicare but a lot of her pediatrician and neurologist appointments are only partially covered by medicare as we see them privately because public wait lists can take upto 18months. Before her NDIS (National Disability Insurance Scheme) plan was approved at the end of November we were paying for a private physio as we waited over 3 months for a public and are still waiting .after 3 months we decided to go private

6.Walk us through a day with Bella.

An average day will include Bella getting up and taking meds at 7am then getting her dressed and ready for school( she goes to a special school), making her Pedisure up as she isn’t eating a lot. Then she will play for an hr then bed to rest or nap before we send her on the bus. She then does a day at school which can include speech, occupational therapy , physio but she also has the ability to curl up and rest every couple of hours sometimes needing to sleep depending on the amount of seizures and how much activity. We send her with lunch but also the Pedisure as her lack of weight gain is an issue. She gets home at about 3:30 it is then that we go get her brother from school most of the time she will be in the pram(will now be the wheelchair) as she will sleep there otherwise I was having to carry her.

Then home where she will do quiet activities until dinner where we can spend up to an hr getting her to eat. She has medication at 6.30pm. Then shower story and bed. Some nights Bella barely makes it through the shower and is falling asleep getting dressed.

7.What changes have you had to make in your lives as a family?

It’s been a big adjustment for all of us. The multiple hospital visits have made it hard on the boys also having to do 2 different school drop offs and pick ups means a lot of juggling. We have had to lean on family and friends more than we would like too also the amount of appointments have meant I have had to stop studying to take care of Bella. Getting the diagnosis has made us re-evaluate what is most important in our lives.

8.How has this affected you as a family financially, socially?

Financially we have struggled not being able to work and having to spend thousands on neurologist, pediatricians and physio meant we have had to use all our savings, also the amount of time off my husband has had to take off to watch the other 2 kids while we are in hospital unpaid has also put a strain on finances.

Socially when we first got the diagnosis we shut down and tried to avoid things for a while, once we absorbed it and started to move forward it taught us how amazing the community, friends and family can be and that it’s ok to fall apart sometimes and there will always be someone to help you up.

9.What kind of support do you get?

To start with not a lot, I did a lot of research and found the Leukodystophy Australia Facebook page and they helped us a lot in the beginning. We have now got NDIS ( National Disability Insurance Scheme) funding which helps with a lot of things she needs but not everything. After our last hospital stay we are finding out there is a lot more out there that we weren’t aware of.

10.What advice would you give to parents out there who are in your shoes or who are carrying babies that may end up with this rare condition?

That’s a hard one it’s not an easy path and there are so many unknowns but we wouldn’t change our daughter for anything. She lights up a room when she smiles and no matter what she has more strength than all of us combined.

It’s a hard road and there are times I don’t think I can make it but then I look at Bella and no matter what you find the strength to keep going. Best advice and something it took me a long time to get is, “it’s ok to not be ok.” I would try and be the perfect parent and be so hard on myself when I wasn’t coping and would think just because I had kids I should be able to do this. After I accepted this, things became a bit easier and I started to actually accept help when people offered rather than trying to do it all.

Go fund me account: https://www.gofundme.com/annabella-needs-wheelchair-accessible-car