Local au­thor, mother dis­cuss liv­ing with de­gen­er­a­tive neu­ro­log­i­cal dis­or­der

Frei­dre­ich’s ataxia affects ap­prox­i­mately 1 in 50,000

Maryland Independent - - Front Page - By JAMIE ANFENSON-COMEAU jan­fen­son-comeau@somd­news.com

Over the course of 30 years, Frei­dre­ich’s ataxia has robbed Jamie Cu­sick of her sight, her mo­bil­ity and much of her hear­ing and speech. But it hasn’t robbed her of her will or her voice — and the 37-year-old Hugh­esville res­i­dent is us­ing both to spread aware­ness about the rare de­gen­er­a­tive neu­ro­log­i­cal dis­or­der.

“FA sucks,” Jamie Cu­sick said, dur­ing an in­ter­view along­side her mother, Ch­eryl Cu­sick, who helped in­ter­pret Jamie’s slurred speech. “We’re try­ing to find a cure and we need help do­ing it — do­na­tions to FARA.”

FARA is the Frei­dre­ich’s Ataxia Re­search Al­liance, a na­tional non­profit “rais­ing funds for re­search, pro­mot­ing pub­lic aware­ness, and align­ing sci­en­tists, pa­tients, clin­i­cians, govern­ment agen­cies, phar­ma­ceu­ti­cal com­pa­nies and other or­ga­ni­za­tions ded­i­cated to cur­ing FA and re­lated dis­eases,” ac­cord­ing to its web­site.

For her 37th birth­day, Ch­eryl Cu­sick said Jamie de­cided she wanted to spread aware­ness about the con­di­tion, which affects ap­prox­i­mately one in ev­ery 50,000 in­di­vid­u­als, ac­cord­ing to FARA.

“We’re reach­ing out to any­body to get the word out there a lit­tle bit, and let them know that this con­di­tion ex­ists. We don’t have a cure and we don’t have a treat­ment, but we’re look­ing,” Ch­eryl Cu­sick said. “We’re still hop­ing for a cure.”

Frei­dre­ich’s ataxia, or

FA, is a ge­netic de­gen­er­a­tive neu­ro­log­i­cal dis­or­der that im­pacts the body’s abil­ity to reg­u­late iron in the body, lead­ing to the de­gen­er­a­tion of nerve cells im­pact­ing the heart, spinal cord and pe­riph­eral nerves. Typ­i­cal on­set be­gins be­tween 5 and 18 years of age, ac­cord­ing to FARA.

Ch­eryl Cu­sick said she first noticed her daugh­ter was hav­ing dif­fi­cul­ties with balance and en­ergy at the age of 7, while she was play­ing t-ball.

“She ran flat-footed and we noticed she ran weird, she put her foot down first,” Ch­eryl Cu­sick said. “I said, ‘She’s all right,’ but my hus­band said no, and so we called the pe­di­a­tri­cian.”

It took several years of vis­it­ing var­i­ous spe­cial­ists be­fore Jamie was cor­rectly di­ag­nosed, and it wasn’t un­til she was 18 that the di­ag­no­sis was con­firmed via DNA analysis.

Grad­u­ally, Jamie’s symp­toms wors­ened, and by the age of 11 she had her first wheel­chair, which she used mainly when she had to travel long dis­tances. By the age of 20, she was con­fined to her wheel­chair.

“Jamie went from walk­ing to drag­ging her­self up and down the stairs to us­ing a walker, then a wheel­chair,” Ch­eryl Cu­sick said.

FA of­ten be­gins with dif­fi­cul­ties in balance and co­or­di­na­tion and fre­quent tired­ness. Over time, in­di­vid­u­als typ­i­cally lose all abil­ity to walk, have dif­fi­culty speak­ing and suf­fer sen­sory im­pair­ment, skele­tal ab­nor­mal­i­ties, car­diac prob­lems and di­a­betes, ac­cord­ing to the Mus­cu­lar Dys­tro­phy As­so­ci­a­tion.

There is no cure for FA, only man­aged care for some of the symp­toms, but Ch­eryl Cu­sick is hope­ful some drugs cur­rently in the ex­per­i­men­tal phase may be able to stop or even re­verse the neu­ro­log­i­cal de­gen­er­a­tion.

“There’s a new com­pound, RT001, and it’s the first com­pound that has shown promis­ing hope of stop­ping Frei­dre­ich’s in the first round of clin­i­cal tri­als,” Ch­eryl Cu­sick said.

FA oc­curs when the body is un­able to pro­duce a pro­tein called frataxin, which helps uti­lize iron in the body and im­pacts en­ergy pro­duc­tion in cells, ac­cord­ing to FARA.

The con­di­tion can also lead to heart prob­lems and di­a­betes, ac­cord­ing to FARA.

FA is an au­to­so­mal re­ces­sive trait, and ap­prox­i­mately one out of ev­ery 100 peo­ple is es­ti­mated to be a car­rier but show no symp­toms. If two car­ri­ers have a child, there is a 25 per­cent chance their child will de­velop FA.

Ch­eryl Cu­sick said she and her hus­band learned af­ter Jamie’s di­ag­no­sis that they are both car­ri­ers, as is their son, Jeff, Jamie’s older brother. Jeff’s wife is not a car­rier, Ch­eryl said, and so his daugh­ter has a 50 per­cent chance of be­ing a car­rier.

Jamie was de­ter­mined to live as full a life as pos­si­ble, even as FA took more and more of her in­de­pen­dence away, her mother said. She at­tended the Col­lege of South­ern Mary­land, and was able to grad­u­ate last year with high­est hon­ors with an as­so­ci­ate’s de­gree in crim­i­nal jus­tice.

“The last few cred­its were a big strug­gle,” Ch­eryl Cu­sick said. “How do you do math in your head when you can’t hold a pen­cil or a cal­cu­la­tor? But she got through it, the col­lege worked with her.”

Stud­ies per­formed in the 1980s and 1990s found that the typ­i­cal life­span of FA pa­tients was 30 to 40 years af­ter di­ag­no­sis, but re­cent med­i­cal ad­vances have likely ex­tended pa­tients’ life­spans.

Jamie has been able to con­nect with an on­line com­mu­nity of in­di­vid­u­als with FA, which has helped to find other peo­ple with her con­di­tion, Jamie said.

Jamie still en­joys lis­ten­ing to mu­sic and au­dio­books on a reader from the Mary­land Li­brary for the Dis­abled.

“It can change the tone, speed and the vol­ume, so she en­joys read­ing like that,” Ch­eryl Cu­sick said.

She also en­joys spend­ing time in the fam­ily swim­ming pool.

She has writ­ten six books — fic­tion and non­fic­tion — about life with FA, as well as a few books of po­etry. More in­for­ma­tion about her pub­li­ca­tions can be found on her web­site at jl­cpub­li­ca­tions.com.

Hugh­esville res­i­dent Jamie Cu­sick has pub­lished several books about liv­ing with Frei­dre­ich’s Ataxia, a de­gen­er­a­tive neu­ro­log­i­cal dis­or­der.

STAFF PHOTOS BY JAMIE ANFENSON-COMEAU

Jamie Cu­sick, right, and her mother Ch­eryl Cu­sick dis­cuss Jamie’s books. Jamie Cu­sick was di­ag­nosed with Frei­driech’s Ataxia, a de­gen­er­a­tive neu­ro­log­i­cal dis­or­der.

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