Friends rally to raise funds to support fam­ily of girl with rare mus­cu­lar dis­ease

The Province - - Front Page - STEPHANIE IP [email protected]­p­rovince.com twit­ter.com/stephanie_ip

Natalie is 18 months old and looks like any other child her age: bright, shin­ing eyes and a toothy tod­dler grin.

“She’s the most beau­ti­ful lit­tle girl. You walk into a room and her big smile and her two lit­tle front teeth just light up the room,” said Tar­ryn Ru­dolph, a friend and col­league of Natalie’s mom, Mered­ith Es­sex. “You’d never think any­thing was wrong with her just by look­ing at her.”

But the sad and dif­fi­cult truth is that Natalie’s mus­cles will soon be­gin to waste.

The tod­dler was di­ag­nosed with Spinal Mus­cu­lar At­ro­phy (SMA) Type 2 ear­lier this month, a di­ag­no­sis that means she will never be able to walk or play the same way other chil­dren do.

While Natalie’s cog­ni­tive skills will con­tinue to de­velop nor­mally, her mus­cles will de­te­ri­o­rate over time and she’ll be con­fined to a wheel­chair, need­ing as­sis­tance for ba­sic things like us­ing a wash­room or show­er­ing.

Ac­cord­ing to Fam­i­lies of SMA Canada, the con­di­tion af­fects one in about 6,000 ba­bies, and about one in 40 peo­ple are ge­netic car­ri­ers.

Since re­ceiv­ing the di­ag­no­sis in early Jan­uary, Natalie’s par­ents, Mered­ith and An­drew Es­sex, have been re­search­ing and work­ing hard to ad­just to their new re­al­ity and to en­sure their daugh­ter doesn’t miss var­i­ous de­vel­op­men­tal mile­stones.

“It was com­pletely dev­as­tat­ing,” Mered­ith said of re­ceiv­ing the news. “It’s def­i­nitely a shock and we had a lot of ad­just­ing to do.”

The first thing that will need to be taken care of in the short term is buy­ing Natalie a tod­dler-sized wheel­chair, which costs up­wards of $20,000. Chil­dren with SMA are typ­i­cally taught to use a ba­sic man­ual wheel­chair at about age two.

“That’s the most im­por­tant thing for me — just get­ting her mo­bile, get­ting her go­ing,” Mered­ith said. “A huge part of this stage is be­ing able to move around and ex­plore the world around you, and she hasn’t been able to do that.”

Fur­ther off, but still just as im­por­tant, are things like buy­ing a wheel­chair-ac­ces­si­ble van — which can cost from $35,000 to $50,000 — mov­ing into a more ac­ces­si­ble home and in­stalling ceil­ing lifts. Natalie will also need new wheel­chairs as she grows out of each one. All th­ese start adding up quickly. “Part of that process is wrap­ping your head around the fi­nances, just try­ing to fig­ure out how to make things work,” her mom said.

Ru­dolph has worked with Mered­ith as nurses at Van­cou­ver Gen­eral Hos­pi­tal for 21/2 years. After learn­ing of Natalie’s di­ag­no­sis, she be­gan to brain­storm ways to help the Es­sex fam­ily.

“They’re not the kind of peo­ple who would ask for help,” Ru­dolph said. “She (Mered­ith) puts on a brave face, but I can tell she’s just heartbroke­n on the inside.”

After re­call­ing sev­eral con­ver­sa­tions about how Natalie would soon need a wheel­chair to get around, Ru­dolph launched a FundRazr on­line crowd­fund­ing cam­paign on be­half of the fam­ily to help buy a wheel­chair-ac­ces­si­ble van.

The cam­paign, which was launched Jan. 13, raised more than $5,000 in the first 24 hours. As of Mon­day, $13,065 had been raised.

Mered­ith is also a mem­ber of the Ter­mi­nal City Rollergirl­s house team, Riot Girls. Her derby fam­ily has also been quick to pitch in to get the fund go­ing.

An­drew said he and his wife were blown away by the fast-grow­ing support.

“We feel in­cred­i­bly lucky with all the support around us,” he said. “We couldn’t imag­ine tack­ling this on our own with­out our fam­i­lies.”

Mered­ith said the fam­ily has even been con­tacted by strangers of­fer­ing en­cour­age­ment.

“I think we just have to re­mem­ber that we don’t have to go through this alone, just the two of us,” she said.

The cou­ple has also regis­tered their daugh­ter with Fam­i­lies of SMA Canada, a char­ity that funds SMA re­search and pro­vides help and in­for­ma­tion to fam­i­lies now liv­ing with the dis­ease.

“There are lots of promis­ing re­search and clin­i­cal tests on­go­ing, which Fam­i­lies of SMA Canada is a lead sup­porter of,” An­drew said. “We would like peo­ple to con­sider sup­port­ing this or­ga­ni­za­tion as we feel this will be most im­por­tant for Natalie, and oth­ers with SMA, in the com­ing years.”

An­drew said the fam­ily has al­ready re­ceived a large in­for­ma­tion pack­age and gifts for Natalie from the char­ity.

“We will likely get to meet other fam­i­lies in sim­i­lar sit­u­a­tions as well,” he said. “We feel this will be very im­por­tant as we ad­just to change in our lives and in our home.”

For now, the young fam­ily is tak­ing things one day at a time, fo­cus­ing on mak­ing sure Natalie has the best chance pos­si­ble at a nor­mal child­hood.

“You don’t know what the pro­gres­sion of the dis­ease is go­ing to be … so the fu­ture is a lit­tle bit scary,” Mered­ith ex­plained.

“Ev­ery day we’re able to spend with her is a bless­ing.”

To do­nate to the FundRazr cam­paign ben­e­fit­ing the Es­sex fam­ily, visit http://bit.ly/help_­na­talie

To do­nate to SMA re­search through the Fam­i­lies of SMA Canada, visit http://curesma.ca

Eigh­teen-month-old Natalie Es­sex was re­cently di­ag­nosed with spinal mus­cu­lar at­ro­phy. Be­cause of that, she will not be able to walk as her mus­cles be­gin to waste.

Par­ents Mered­ith and An­drew Es­sex hold their 18-month-old daugh­ter Natalie, who was re­cently di­ag­nosed with spinal mus­cu­lar at­ro­phy, a pro­gres­sive neu­ro­mus­cu­lar dis­ease. An on­line fundrais­ing cam­paign is help­ing the fam­ily deal with the ris­ing...

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