52 seizures an hour: the brave par­ents search­ing for a cure for their daugh­ters’ rare con­di­tion

Af­ter years of watch­ing their daugh­ters en­dure thou­sands of seizures and not know­ing the cause, these brave par­ents fi­nally had an an­swer. Now, they are on a quest for a cure,

The Australian Women's Weekly - - Con­tents - PHO­TOG­RA­PHY KRISTINA SOLJO writes Sue Smethurst.

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, kinder, 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 Wil­liamses 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 Wil­liamses 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

see a pae­di­a­tri­cian. He told them that if it was still hap­pen­ing in six months to come back. Yet, as the flick­er­ing in­creased, Danny was con­vinced it was some­thing more sin­is­ter, so they rushed Jaeli to the emer­gency room at the Royal Chil­dren’s Hospi­tal, Mel­bourne. Her fa­ther’s gut in­stinct was right and, within a few hours, Jaeli was di­ag­nosed with epilepsy, but it was just the be­gin­ning.

Alarm­ing signs

Jaeli’s con­di­tion wors­ened – her speech was delayed, she was show­ing be­havioural is­sues and se­vere ataxia, a to­tal loss of bod­ily con­trol. Then came alarm­ing signs of self-harm­ing. “I said to our doc­tor, ‘The only way I can de­scribe her be­hav­iour is psy­chotic’, and the doc­tor replied, ‘You can’t say that for a child’,” Danielle re­calls. “I didn’t have an­other word for it – she’d go ab­so­lutely crazy and noth­ing I did would calm her down. She used to wake up ev­ery morn­ing at 2 or 3am for no rea­son, just hys­ter­i­cal, scream­ing, cry­ing. For two years, she pulled her hair out, so on one half of the side of her head she had no hair.”

The fam­ily tried ev­ery pos­si­ble med­i­ca­tion as well as herbal treat­ments but noth­ing worked.

“Jaeli’s seizures were the worst they’d ever been,” says Danielle. “We felt like we were rac­ing the clock to help our lit­tle girl. The longer the seizures per­sisted, the more dam­age was be­ing done. Our vi­sion of our happy, healthy nor­mal lit­tle girl was slip­ping away with ev­ery failed treat­ment. We were ab­so­lutely heart­bro­ken.”

And there was more heart­break to come. Dali was also di­ag­nosed with epilepsy just af­ter her first birth­day, a dev­as­tat­ing blow for the fam­ily. Late last year, the frus­trated mum took her search for answers global. She knew the symp­toms of her daugh­ters’ con­di­tion, but none of the di­ag­noses they’d re­ceived were de­ter­min­ing the ac­tual cause. Des­per­ate for answers, Danielle, con­tacted an on­line med­i­cal fo­rum, CrowdMed, and came across a med­i­cal de­tec­tive from Amer­ica who sug­gested she have a full genome se­quence done, a test which de­ter­mines the or­der of DNA.

They found a lab­o­ra­tory in Syd­ney that could do the test. Each fam­ily mem­ber had to be tested at a cost of $6000 per per­son, but Danielle fig­ured it was money well spent.

In April last year, the re­sults were in and the fam­ily fi­nally had an an­swer. “It is mind-blow­ing for us to fi­nally have a di­ag­no­sis. Af­ter five years of sleep­less nights, it is a god­send. I was over­whelmed at first be­cause we’d been search­ing for an an­swer for so long. It gave us a sense of em­pow­er­ment that we had a name for it, we fi­nally had some­thing to an­chor to.”

Even so, the girls’ fu­ture is hard to pre­dict. Both have lit­tle lan­guage and their be­hav­iours and seizures are dif­fi­cult to man­age. They can’t walk in a straight line. As yet, the life ex­pectancy of chil­dren with SYN­GAP1 re­mains un­known.

Danielle has be­come ac­tively in­volved in Bridge The Gap, a col­lec­tive of par­ents world­wide who are push­ing hard to raise money for a cure. The or­gan­i­sa­tion is fo­cus­ing on sup­port­ing re­search at The Florey In­sti­tute in Mel­bourne to de­ter­mine if any ex­ist­ing med­i­ca­tions can be re­pur­posed to treat the ex­treme seizures of SYN­GAP1 suf­fer­ers.

“We’re now more in­formed, but still so far from mak­ing a dif­fer­ence in our girls’ lives,” says Danielle. “The di­ag­no­sis has given us a life­line and hope we didn’t have. We’ll keep fight­ing for a cure, to en­sure our daugh­ters are happy, seizure-free and con­nected to their world.”

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.

De­spite their daugh­ters’ com­plex health needs, Danielle and Danny say, “We try to have fun to­gether and in­stil a sense of be­long­ing and un­con­di­tional ac­cep­tance in the girls.”

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