Lynda and Tom Smith talk about NF

WATCH: Lynda and Tom Smith talk about NF. Video by Marina Neil and Lucinda Garbutt-Young

Transcript

00:00 [Music]

00:09 Hi, my name's Tom and I'm 10.

00:12 I'm not telling my age though.

00:14 That's fine.

00:15 My name's Linda and I'm Tom's mum.

00:17 When Tom was a baby you started noticing some things that seemed a little odd.

00:21 Can you tell me about that?

00:23 Yeah, we just noticed that his right pupil was asymmetrical.

00:27 Like it was not round like his other one.

00:30 That was our first sign that we thought that something was going on with his right eye.

00:36 And we went to our GP to follow up on that.

00:40 And then we went to - he sent us to an ophthalmologist and we went from there.

00:47 From there it progressed but it took a long time before we had a -

00:51 we didn't know anything about NF1 so nothing was mentioned to us for a long time.

00:55 So then Tom was diagnosed a little bit later.

00:58 Can you tell me what he was diagnosed with?

01:00 Yeah, after many, many visits to the eye specialist, I think it was his paediatrician

01:07 that eventually picked up on his cafe au lait spots which for Tom were quite pale.

01:11 But he had quite a few and we always just thought he was a bit different.

01:15 It had lots of birthmarks.

01:16 We knew nothing about what they actually meant.

01:18 And it was not until she suggested going to Hunter Genetics that we went and saw them

01:24 and they thought it was - that we should have him tested to see whether he had NF1

01:31 which we'd never known of.

01:32 It was all a bit scary at first but that was what we got out after a blood test

01:36 he had a sufficient diagnosis.

01:38 I'll be doing a colour run for NF.

01:40 Where are you doing that?

01:42 Sydney and we've already raised $2,195.

01:46 Wonderful. Just your family's raised $2,195?

01:48 In the last two days, haven't we?

01:50 That's incredible. Yeah, great.

01:52 And why is a run like this important? What does that mean to you?

01:56 Well, it's like raising awareness and raising a lot of money.

02:00 Funding for the specialists to find a cure, hopefully one day.

02:06 And why is the Children's Tumour Foundation important to you?

02:10 They're an incredible, incredible foundation that we've only discovered fairly recently

02:15 and they provide so much support for the families and create camps for the families

02:23 to get together and meet other families that have been impacted by NF1

02:28 and for Tom to meet other children that have what he has to make him feel not so alone.

02:33 And they are just an incredible team.

02:36 Really, really caring and out there working their best to make people aware of NF in the community.

02:44 [Music]