52 seizures an hour:

the brave par­ents search­ing for a cure for their two daugh­ters’ rare con­di­tion

Australian Women’s Weekly NZ - - CONTENTS - PHO­TOG­RA­PHY KRISTINA SOLJO

It’s not un­com­mon for par­ents to lov­ingly joke their clumsy tod­dlers may need a crash hel­met. Yet, for the past five years, crash hel­mets have been stan­dard at­tire for Mel­bourne sis­ters Jaeli and Dali Williams. Every day, whether at school, kindy, the shops, while play­ing in the sand­pit or eat­ing at the kitchen table, Jaeli and Dali have had to wear pro­tec­tive head gear be­cause they suf­fer seizures.

“We were walk­ing along one day and Jaeli just dropped to the floor un­con­scious,” says their mother, Danielle Williams. “She fell flat onto her face and broke a tooth. Dur­ing an­other seizure, she fell back­wards and smashed her head on a cor­nice at home and was rushed to hospi­tal. We are haunted by seizures. It’s ter­ri­fy­ing – there’s no warn­ing, no pat­tern – at any time their bod­ies just stop.”

At their worst, the sis­ters, now aged seven and five, have en­dured up to 52 seizures an hour and were suf­fer­ing from at least five dif­fer­ent seizure types, from ran­domly drop­ping to the floor while walk­ing, to sud­denly thrust­ing back­wards onto the ground or jerk­ing in­vol­un­tar­ily, throw­ing what­ever may be in their grip.

“By the age of two, Jaeli couldn’t eat with­out hav­ing a seizure and throw­ing a fork across the room as her body shut down,” says Danielle. “She had gashes in her head from fling­ing back. You couldn’t just put her on the floor and do her shoes up with­out her thrash­ing back­wards and fall­ing over. She might fling back and hit a wall or hit her head, and Dali was the same. We had to watch them every minute of the day and their schools wouldn’t let them at­tend with­out them wear­ing hel­mets.

“Our house is cush­ioned, we don’t have any sharp edges, there’s no cof­fee table – every sur­face is soft and cov­ered in car­pet to try to pro­tect them.”

For years, Danielle and her hus­band, Danny, en­dured a nee­dle-in-the-haystack search for an an­swer to what was caus­ing their girls’ ill­ness. At first, Jaeli and Dali were di­ag­nosed with epilepsy, but af­ter un­suc­cess­fully try­ing 16 dif­fer­ent an­ti­con­vul­sant med­i­ca­tions they knew this wasn’t the an­swer.

Now, fi­nally, a world-first test is avail­able in Aus­tralia, pro­vid­ing the much longed for piece to a heart­break­ing med­i­cal jig­saw puz­zle. Us­ing a cut­ting-edge genome se­quenc­ing test, re­searchers at Aus­tralia’s Gar­van In­sti­tute have di­ag­nosed Jaeli and Dali with a rare neu­ro­log­i­cal con­di­tion called SYNGAP1, which af­fects just

100 chil­dren world­wide. The con­di­tion is a rare mu­ta­tion of the vi­tal SYNGAP1 pro­tein that causes both in­tel­lec­tual and phys­i­cal im­pair­ment. “We know now that there is only one other fam­ily in the world that has two kids with SYNGAP1 and they’re iden­ti­cal twins. So we re­ally are rare,” says Danielle.

Be­fore the di­ag­no­sis, the Williams beat a path to every door that po­ten­tially of­fered help, con­sult­ing 20 dif­fer­ent spe­cial­ists, in­clud­ing pae­di­a­tri­cians, psy­chol­o­gists, ge­neti­cists, tox­i­col­o­gists, Chi­nese herbal­ists, di­eti­tians and meta­bolic doc­tors.

In­cred­i­bly, the girls en­dured 45 dif­fer­ent blood tests and, in the end, the Williams were given 22 dif­fer­ent di­ag­noses of what was wrong with Jaeli and Dali, rang­ing from autism and ADHD to heavy met­als in their blood and food al­ler­gies.

Ab­so­lutely ter­ri­fy­ing

It was a flicker in her daugh­ter’s eye that brought Danielle’s world crash­ing down. Dali, with her mop of caramel curls, had just cel­e­brated her first birth­day, but when Danielle no­ticed a gen­tle but­ter­fly-like move­ment in her eye­lids, her heart sank. “All I could think was, ‘Oh, no, here we go again,’ and I just knew,” she says. For Danielle and Danny, it sig­nalled that Dali was most likely fol­low­ing in the foot­steps of her big sis­ter, Jaeli, who was suf­fer­ing what they thought was a rare and ex­tremely de­bil­i­tat­ing form of epilepsy.

“When I fell preg­nant with Dali, I asked our doc­tors if there was any chance the baby could be born with the same thing that Jaeli had, and I was told, ‘No, don’t worry, you’ll be fine.’ When she was born, I was look­ing for any lit­tle symp­tom, but she was fine and so, for 12 months, we lived in a bliss­ful bub­ble with our baby, who seemed per­fect. Then, not long af­ter her first birth­day, I no­ticed an eye roll and I didn’t say any­thing, I wanted to be sure. So I held onto it for about a week and be­gan to see more of it hap­pen­ing, and then I knew. It was dev­as­tat­ing. The thought of go­ing through it all again was ab­so­lutely ter­ri­fy­ing.”

For the first 12 months of their eldest daugh­ter Jaeli’s life, Danielle and Danny were like any smit­ten new par­ents. They were bliss­fully un­aware that some­thing was wrong with their beau­ti­ful baby. “It was 10 fin­gers, 10 toes, good to go!” Danielle says, smil­ing. By her first birth­day, Jaeli was a lit­tle de­layed with her mile­stones but noth­ing alarm­ing, and no one raised any red flags with the new par­ents. It was Danny, an os­teopath, who first no­ticed a slight twitch in his daugh­ter’s eye, a flick­er­ing of the lids, along with a slight rolling of the eyes that seemed un­usual. They went to

At any time, their bod­ies just stop.

Dali (left) and Jaeli Williams with their par­ents, Danielle and Danny. The sis­ters are a rar­ity among suf­fer­ers of a rare con­di­tion.

TOP: Jaeli dur­ing one of the many stints in hos­pi­tals she and her lit­tle sis­ter have en­dured while un­der­go­ing tests. ABOVE: Danny with Jaeli and new­born Dali in 2011.

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