RAIS­ING THE IS­SUE

A COM­MIT­TED YOUNG MUM IS DO­ING ALL SHE CAN TO IN­CREASE AWARE­NESS OF A GE­NETIC CON­DI­TION SHE SAYS IS LIKE LIV­ING WITH A TIME BOMB

Life & Style Weekend - - MAGAZINE | BIG READ - WORDS: DE­NIS ERA WARD PHO­TOS: GLENN H AMP SON .......................

What woman ex­pect­ing her first child hasn’t heard the old ax­iom: it’ll change your life for­ever. Few mothers would dis­pute its ac­cu­racy, but Rachel Skel­ton could never have fore­seen the way her world would shift on its axis after the ar­rival of her daugh­ter Bella.

The Queens­land woman was liv­ing in Syd­ney with her part­ner when Bella was born in May, 2014.

She was a beau­ti­ful baby and came into the world with four birth­marks, stamps folk­lore might at­tribute to signs of luck, clues to past lives or un­ful­filled crav­ings Rachel must have har­boured dur­ing preg­nancy.

No one thought too much of them un­til Rachel took Bella home and more started ap­pear­ing on her body.

“I took her to GPS to show them,” Rachel says. “It was al­ways the same: I was a para­noid first-time mum and she was fine. There was noth­ing to worry about.

“But I just had this feel­ing there was some­thing not right.”

At six weeks old, Bella had more than 20 birth­marks and at her six-week check up, her pae­di­a­tri­cian sus­pected she may have the ge­netic con­di­tion neu­rofi­bro­mato­sis, or NF.

One of its early signs is hav­ing more than six birth­marks as a new baby.

Bella was re­ferred to the NF Clinic at The Chil­dren’s Hospi­tal at West­mead where she was for­mally di­ag­nosed with neu­rofi­bro­mato­sis Type 1.

The first thing the nurses said to Rachel was not to Google it.

The in­ter­net im­ages of NF throw up a con­fronting as­sort­ment of dis­fig­ured suf­fer­ers, cov­ered in hun­dreds, even thou­sands, of ex­ter­nal lumps and tu­mours.

“Of course I Googled it,” Rachel says. “I was try­ing to get my head around it. I was con­vinced that would hap­pen to my daugh­ter.”

The truth is no one re­ally knows what course NF will take in any­one af­flicted by it. While some cases are hered­i­tary, oth­ers, like Bella’s, are a spon­ta­neous gene mu­ta­tion which oc­curs at the time of con­cep­tion.

NF Type 1, the most com­mon form, is thought to af­fect one in 2500-3000 peo­ple in Aus­tralia.

It is char­ac­terised by spots and growths, of­ten on the skin and eyes, and tu­mours that de­velop around nerve end­ings. Some­times they don’t ap­pear un­til later in life, of­ten trig­gered around pu­berty.

While some suf­fer­ers don’t ex­pe­ri­ence ma­jor health com­pli­ca­tions, the lo­ca­tion and size of the growths can vary greatly, some­times caus­ing sub­stan­tial im­pair­ment such as blind­ness or hear­ing loss, paral­y­sis, even pre­ma­ture death.

There is no cure. The best medicine can of­fer is to rou­tinely scan suf­fer­ers at reg­u­lar in­ter­vals to keep watch on tu­mours that may ap­pear or grow in­ter­nally.

“When Bella was di­ag­nosed, I jumped right in with two feet,” Rachel says. “The only group in Aus­tralia that sup­ports chil­dren and fam­i­lies liv­ing with NF was the Chil­dren’s Tu­mour Foun­da­tion so I started vol­un­teer­ing with them.”

The Foun­da­tion’s high­est pro­file fundrais­ing event each year is the na­tional Cu­pid’s Undie Run where en­thu­si­as­tic fun run­ners don their un­der­wear to gen­er­ate a bit of me­dia at­ten­tion and pub­lic aware­ness of NF.

With noth­ing medicine could do for Bella ex­cept to watch and wait, Rachel rel­ished the op­por­tu­nity to take some ac­tion and threw her­self into pro­mot­ing the run and other foun­da­tion ini­tia­tives.

Her pas­sion didn’t go un­no­ticed. She was of­fered the job as the foun­da­tion’s na­tional cam­paign man­ager and didn’t need to think twice. She quit her job as a pri­mary school teacher and, in her own words, has been liv­ing and breath­ing tu­mours ever since.

“It’s like I live in an NF bub­ble,” she says. “It’s ap­point­ments and kids’ scans and do­ing ev­ery­thing I can to spread the word. It gives me a sense of pur­pose, that I’m do­ing some­thing for Bella and oth­ers with NF.”

At four and a half, Bella is an ex­tro­verted, quirky, nat­u­ral-born come­di­enne who loves singing and danc­ing and will tell you ev­ery time her favourite colour is “glit­ter”.

It’s hard to imag­ine there could be any cloud hang­ing over her but at her first MRI scan, doc­tors dis­cov­ered she al­ready had tu­mours press­ing on her spine.

“They were found be­fore the age of two,” Rachel says. “It was a real kick in the guts.

“Here I was telling my­self ‘at least she looks nor­mal’. I was wor­ried about the ex­ter­nal growths, about how she might look to other peo­ple. I felt so guilty. I told my­self ‘you are so vain, so shal­low to be pre­oc­cu­pied with ap­pear­ance’.

“What was worse, there was noth­ing they could do. Surgery is too risky. The growths don’t re­spond to chemo. It’s feels like a tick­ing time bomb.”

Like oth­ers di­ag­nosed with NF, Bella un­der­goes rou­tine scans ev­ery six months. Rachel de­scribes the gnaw­ing symp­toms of what she calls “scanx­i­ety”, the dread of each ap­proach­ing ap­point­ment that may re­veal new tu­mours or, just as wor­ry­ingly, show her ex­ist­ing ones are grow­ing.

“All NF fam­i­lies know what I’m talk­ing about,” she says. “It’s just that ter­ri­ble feel­ing lead­ing up to ev­ery scan and once one is over, it starts all over again wor­ry­ing about the next one.”

To push it to the back­ground, Rachel has thrown her­self head­long into her role. Her aim is to es­tab­lish a spe­cial­ist NF clinic in Queens­land, as ex­ists in Syd­ney and Mel­bourne.

As it stands, there is no um­brella treat­ment cen­tre for NF cases in the state. Some spe­cial­ists she has seen in Bris­bane are not fa­mil­iar with the con­di­tion and it is dif­fi­cult to ac­cess holis­tic care across the var­i­ous spe­cialty ar­eas.

“That is what we are fundrais­ing for,” she says. “An­other goal is to get bet­ter ac­cess to clin­i­cal tri­als for NF peo­ple in Aus­tralia.

“There is next to no govern­ment fund­ing for NF in Aus­tralia. There are drug tri­als over­seas that look promis­ing in shrink­ing or sta­bil­is­ing the tu­mours, but it’s very hard for Aus­tralians to be con­sid­ered for them.

“When fam­i­lies have been told there’s noth­ing that can be done, it of­fers them some hope. Of course they’re go­ing to jump at the chance to try some­thing, any­thing.”

Rachel’s other big quest is to in­crease aware­ness of NF so that peo­ple sim­ply un­der­stand it.

“When peo­ple have the ex­ter­nal tu­mours, I want peo­ple not to have to ask if it’s con­ta­gious and not to give it a sec­ond thought,” she says.

“I want peo­ple not to be scared of them and just ac­cept them. It’s start­ing a na­tional con­ver­sa­tion.”

Rachel has been buoyed by the sup­port she’s found within the NF com­mu­nity — it’s like a big fam­ily, she says — although she ad­mits to feel­ing the pres­sure at times.

“Some­times I feel the weight of the en­tire com­mu­nity but the peo­ple I’ve met through NF have been phe­nom­e­nal,” she says.

“We’ve also had great com­mu­nity sup­port. My old school raises funds for the Chil­dren’s Tu­mour Foun­da­tion ev­ery year which means a lot and when I speak to peo­ple about NF, they have no hes­i­ta­tion in sup­port­ing us.

“(The ma­gi­cian and for­mer Bach­e­lorette con­tender) Apollo Jack­son has re­cently come on board as an am­bas­sador.

“If I can get five min­utes of some­one’s time, if they stop and lis­ten, they want to help.”

No doubt ral­lied by Rachel’s gen­uine pas­sion for the cause.

But it has come at a cost too. The strain of deal­ing with Bella’s di­ag­no­sis un­doubt­edly played its part in the break­down of Rachel’s re­la­tion­ship with Bella’s fa­ther.

“I know now it’s very com­mon in re­la­tion­ships where there are sick chil­dren,” she says. “We had two very dif­fer­ent responses when Bella was di­ag­nosed. I jumped straight in with two feet and Brett just thought ‘my daugh­ter will be OK’. He was more in denial.

“It puts a mas­sive strain on the re­la­tion­ship of a lot of cou­ples and we sep­a­rated.”

As well as the “scanx­i­ety” that’s al­ready build­ing be­fore Bella’s next scan in May, Rachel ad­mits to liv­ing with per­ma­nent guilt, how­ever mis­placed it may be.

“When it’s a spon­ta­neous gene mu­ta­tion, when you or your part­ner don’t have the gene, as it was with Bella, a part of you thinks you must have done some­thing to cause it.

“You think I should have eaten bet­ter; what did I do for her to de­serve this just by ex­ist­ing?”

But, as in all spe­cial part­ner­ships, when Rachel finds her spir­its flag­ging, she finds her strength in Bella.

“She takes ev­ery­thing in her stride,” Rachel says. “She’s the one who says to me, ‘it’s go­ing to be OK, Mum’. She’s so strong. She has a Won­der Woman cape that she wears to her ap­point­ments that she says makes her brave.

“I couldn’t be more proud of her. Ev­ery­one who meets her loves her. She’s a lit­tle drama queen and I think she’s des­tined for the stage but maybe it’s a dif­fer­ent sort of stage.

“She was born on World NF Aware­ness Day — May 17. I didn’t know at the time. I found that out some time later and I thought what are the chances?

“I think she’s des­tined to change the world. She’ll ei­ther be a doctor who finds a cure or be up there on a stage some­where spread­ing the word. I can see her do­ing that.”

It may well be a long road ahead but, in the mean­time, her mum will be do­ing all she can to pave her way.

“THERE IS NEXT TO NO GOVERN­MENT FUND­ING FOR NF IN AUS­TRALIA. THERE ARE DRUG TRI­ALS OVER­SEAS THAT LOOK PROMIS­ING ... BUT IT’S VERY HARD FOR AUS­TRALIANS TO BE CON­SID­ERED FOR THEM.” .......................

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