Lucinda’s story: ‘We have had it for four gen­er­a­tions’

The Irish Times - Tuesday - Health - - Health l Gene Technology -

Lucinda McNer­ney (45), has had a pace­maker since she was 18 to off­set the ef­fect of a con­gen­i­tal heart de­fect she was born with called Long QT syn­drome.

The syn­drome, which also af­fects two of her three chil­dren, can lead to sud­den heart fail­ure and death, some­times in adults un­aware they have the con­di­tion.

“We didn’t know the in­her­ited na­ture of it about 27 years ago, so there was not much known about it,” re­called Lucinda, who was di­ag­nosed af­ter suf­fer­ing an “event” from which she re­cov­ered. “I just got on with my life, went to col­lege.”

For some with LQT, and this in­cludes Lucinda’s fam­ily, LQT is par­tic­u­larly dan­ger­ous as it lurks in the back­ground with­out any symp­toms show­ing, un­til the con­di­tion is trig­gered with po­ten­tially fa­tal con­se­quences. The trig­ger can be any­thing from heavy ex­er­cise to med­i­ca­tions, and can af­fect all age groups.

Lucinda is anx­ious to make the world as nor­mal and safe as pos­si­ble for her two chil­dren with LQT. This in­volves hav­ing a de­fib­ril­la­tor in­stalled in the home in Cork and lis­ten­ing care­fully to med­i­cal ad­vice. She is the pa­tient representative on the Sud­den Adult Death coun­cil, which is run along with the Irish Heart Foun­da­tion.

Her el­dest child, Oisin, has the gene, and he is be­ing treated with beta block­ers. For him, it meant that he had to give up play­ing com­pet­i­tive sports with friends.

In­tense

“He [Oisin] could play a game of hurl­ing,” said Lucinda, who is from Cork, “but the train­ing would be so in­tense with your peers. Would a 10 or 11-year old stop be­cause he felt faint? That would be the worry. It wasn’t worth the risk.”

Lucinda’s youngest child, Dervla (7), was di­ag­nosed with LQT syn­drome shortly af­ter her birth. “She was born in Cork and brought by am­bu­lance to Crumlin, where she was put on beta block­ers,” said Lucinda. It meant that Lucinda, her mother (63), and two of her three chil­dren, plus some of her sib­lings had LQT.

Lucinda heard about re­search us­ing Crispr tech­nol­ogy to tackle LQT be­ing un­der­taken jointly by Dr Terry Pren­diville, con­sul­tant pae­di­atric car­di­ol­o­gist at Our Lady’s Hospi­tal for Sick Chil­dren, Crumlin, and Prof Ti­mothy O’Brien, based at the Remedi cen­tre at NUI Gal­way. The sci­en­tists were look­ing for fam­i­lies with LQT that were will­ing to do­nate skin sam­ples for re­search with the goal of cor­rect­ing the heart cells that have the ge­netic de­fect that causes the syn­drome, at some point in the fu­ture.

Lucinda said it was an emo­tional day for the en­tire fam­ily.

“We have had it for four gen­er­a­tions and we have lived with it, but it would be amaz­ing to think that you wouldn’t have that worry for the next gen­er­a­tion,” said Lucinda. “My brother is also a gene car­rier and he has two kids, one af­fected and one un­af­fected so we are go­ing to bring them all up – again.

“We want to en­cour­age as many peo­ple as we can to par­tic­i­pate in it.”

Three gen­er­a­tions of the McNer­ney fam­ily have suf­fered with a con­gen­i­tal heart de­fect called ■ Long QT syn­drome: Lucinda McNer­ney, Lucinda’s daugh­ter Aoife McNer­ney and Mar­ian Cas­sidy (Lucinda’s mother)

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