Tag: NF2

Running in my underwear

Running in my underwear

Last Sunday I ran through St Kilda in my underwear.

Possibly I should add more details to this story!

Running through St Kilda in my underwear was for the Cupids Undie Run which is a fundraiser for the Children’s Tumour Foundation of Australia. This foundation supports families impacted by Neurofibromatosis (NF). This is the disorder my eldest son has – he has NF2 which is the rarer form.

The fundraiser raises much needed funds for treatment, family support and research.

Many people have asked if I was embarrassed to run in my undies or said how brave I was. What they don’t understand is that as a parent you feel helpless when you can’t help or fix what is wrong with your child. So the thing I can do is help with funds. And if embarrassing myself for a short time helps raise funds then I am in. This is the second year I have done this and I will continue every year until a cure is found.

Bring on the embarrassment – I am going bigger and better every year. Because I would do anything to take away the stress and pain my beautiful boy suffers.

The peril of a kid on crutches

The peril of a kid on crutches

As part of my eldest sons treatment plan he is currently going through serial casting. This is to try and correct the positioning of his drop foot and loosen up some of the muscles that are not working as they should. So basically it is to treat a symptom of the NF2 not the cause.

For serial casting he goes into the Royal Children’s Hospital once a week to have one cast removed and another put on. The idea behind this process is to slowly stretch and reposition his foot.

The process started last Thursday when he had the first cast put on and will continue for at least four weeks. As there are no broken bones or injuries he can walk on the cast but with the current positioning that is not possible and therefore he is on crutches.

One week into the process what have I learnt?

  • The crutches that I always thought were super cool and wanted when I was at primary school are not (for parent or child) when they are your reality.
  • Everything takes longer and your patience is tested when your child can’t do things as quickly as you want.
  • You don’t notice how many little things a child of almost nine can do for themselves until you have to help them.
  • You discover that the bath is a lot deeper than you think it is when someone has to sit down while standing on one leg and hanging the other over the edge of the bed.
  • And finally as a parent you never get it right when helping a frustrated, grumpy child – you don’t let them try and do things/you don’t help them enough or you need to get something to keep their bare toes warm/why would they want a sock over the cast.

So at this stage of the process I feel very sorry for him and want to avoid him all at the same time. One week down and three to four to go……hopefully it works and the grumpiness, from both of us, is worth it.

NF2 Awareness Day

NF2 Awareness Day

May 22nd is NF2 Awareness Day.

Normally I don’t discuss deep and serious topics on my blog but this is one that is very close to my heart and awareness equals knowledge and (hopefully) treatments.  My beautiful eldest son was diagnosed with Neurofibromatosis Type 2 (NF2) about a year ago.  What started as a limp that didn’t go away and a trip to the podiatrist, turned into about a year and a half of specialists visits, hospital visits and tests with the longest list of specialists you’ve ever seen.  The initial thought was that he had NF1 which is the more common type and affects about 1 in 2500 people.  This statistic is similar to that of Cystic Fibrosis but nowhere near as well-known.

Final diagnosis is that my son has NF2 which is mush less common and affects 1 in 25,000 people.  It is a rare genetic disorder that presents differently in each patient and symptoms start at different ages but usually start to occur during teen years or a bit later (yes my son is younger given that he is only 8 now).  And most importantly there is no cure and very little in treatments.

NF causes tumors to develop in the brain, spinal cord, and nerves. NF2 was diagnosed in my son due to the presence of the characteristic tumours on the acoustic nerves.  These tumours affect sound and balance and often lead to partial or complete hearing loss. He had also previously had a cataract removed from his eye which we have since discovered is another symptom of NF2 in young children.

And his limp ended up being drop foot as a result of tumours in his upper thigh and lower spine.

The condition occurs as a result of a gene abnormality.  May 22 is NF2 Awareness Day as NF2 is a mutation of Chromosome 22.

For those who would like to know more about this disorder and the shocking impact it can have please click here to visit the Children’s Tumour Foundation website.

Good Friday – Giving that they may grow

Good Friday – Giving that they may grow

Today is Good Friday and in Melbourne that means more than just the start of a wonderful long weekend that is the lead up to too much chocolate.  It also means the Good Friday Appeal which is the biggest fundraiser for the Royal Children’s Hospital.  Last year this event raised $17.6 Million and they are trying to beat this record this year.

Up until 2017 I had never thought that much about the fundraiser.  I thought it was a great cause and I would throw whatever change I had into the collection tins when I was out and about.  Like many people it probably crossed my mind about how they get so much support being so well known and what do they do with it all.

Life all changed when my sons health was deteriorating and we were trying to get answers.  At one stage we were at the hospital every week.  The staff there are amazing with both kids and parents and it is a world class hospital.  My son has since been diagnosed with NF2 which is a rare genetic disorder and he has constant appointment and tests.  We are so lucky to have this hospital at our disposal.  For an 8 year old it is comforting to always go to the same location even if he is seeing multiple doctors and nurses.

Why I am highlighting this?  So that people that aren’t needing to go to the hospital with their children have some understanding.  My son has seen about 10 different departments/specialists at the hospital.  On top of that he has had three MRIs, a PETScan, two different braces for his legs and many other tests.  If I had to do this privately (and at the start before being referred and entering the RCH system I did) he would either be getting less assistance or it would ruin me financially.  He would also have much longer waiting times then he does in the hospital specialist clinics.

I now sing the praises of this hospital to everyone I know.  I owe this hospital so much as do so many other families.  Some facts from the RCH website:

  • Over 48,000 children were admitted to The Royal Children’s Hospital last year
  • Over 85,000 children were treated in emergency
  • 322,000 children treated at the hospital’s specialist clinics

So this morning when I was about to go and buy a hot chocolate after dropping the boys at their dads I put the money in the collection tin instead.  And after publishing this post I will be getting on the website and donating to this worthy cause.

For anyone in Melbourne (or elsewhere) who thinks this is a worthy cause and wants to donate the website is https://rch.goodfridayappeal.com.au/