Re­cently Paul Dawe dis­cov­ered that he and two of his chil­dren suf­fer from a ge­netic, life-threat­en­ing heart con­di­tion. But, he tells Joy Or­pen, they get great help and sup­port from the Mater’s Fam­ily Heart Screen­ing Clinic

Sunday Independent (Ireland) - Life - - HEALTH CASE STUDY -

Paul Dawe (47) met his wife Rose­mary when he was just 11 years old. One of the first things he told her was that he was al­ready in sec­ondary school. This, it later emerged, was a fib. But, none­the­less, the re­la­tion­ship did flour­ish. Now the Dawes, who live hap­pily in Dun­dalk, have three chil­dren, in­clud­ing 14-year-old iden­ti­cal-twin boys.

How­ever, their lives took an un­ex­pected tra­jec­tory in re­cent years, fol­low­ing the dis­cov­ery that some mem­bers of the fam­ily carry a spe­cific gene which causes an en­large­ment of the heart mus­cle.

Paul says the warn­ing signs ap­peared a long time ago when his brother John was di­ag­nosed with a car­diac prob­lem when he was just seven. Trag­i­cally, he died just 14 years later. As a re­sult, Paul and his two sis­ters were ex­am­ined at the Mater Mis­er­a­cor­diae Uni­ver­sity Hospi­tal, Dublin. “Back then, test­ing was pretty rudi­men­tary,” says Paul. “So we got the all-clear.”

In the en­su­ing years, Paul worked hard to take care of his chil­dren. He did con­tract work for the ESB; he drove lor­ries, and is cur­rently em­ployed as a caretaker in a sec­ondary school in Dun­dalk. “I was sent for a med­i­cal when I joined the school,” Paul ex­plains. “Their doc­tor checked my heart, and he picked up a slight mur­mur. When I told him about my fam­ily his­tory, he ad­vised me to see my GP, who re­ferred me to Drogheda [Our Lady of Lour­des’s Hospi­tal].”

A car­di­ol­o­gist then rec­om­mended that Paul have an echocar­dio­gram, also known sim­ply as an echo, which uses sound waves to im­age the in­side of the heart, and to check mus­cle func­tion. He had an elec­tro­car­dio­gram (ECG) which ex­am­ines the elec­tri­cal ac­tiv­ity of the heart. And he was given a stress test, which in­volved hav­ing his heart func­tion mon­i­tored, while walk­ing on a tread­mill, the in­cline of which was grad­u­ally in­creased. Fi­nally, he went for an MRI scan, which can pro­duce de­tailed images of var­i­ous parts of the body.

Then Paul went back to the car­di­ol­o­gist in Drogheda. “I do re­mem­ber that visit vividly. While I was wait­ing, I looked out the win­dow. It was a nice summer’s day, but none­the­less, I was think­ing about my late brother John. By then, I knew for cer­tain some­thing was on the cards and I re­alised that my life was about to change for­ever.” Which it did; and quite dra­mat­i­cally. The con­sul­tant ex­plained to Paul that one side of his heart mus­cle was en­larged. He was given a di­ag­no­sis of hy­per­trophic car­diomy­opa­thy (HCM).

Ac­cord­ing to con­sul­tant car­di­ol­o­gist Dr Catherine McGor­rian, at the Mater Hospi­tal, car­diomy­opa­thy can af­fect the size and shape of the heart and the thick­ness of the mus­cle wall. This makes it more dif­fi­cult for the heart to pump blood around the body. This rang true for Paul. “I’d no­ticed symp­toms for years,” he says. “But I al­ways blamed my breath­less­ness on be­ing un­fit and not get­ting enough ex­er­cise. Now I knew the real cause.”

Since car­diomy­opa­thy is one of the causes of pre­ma­ture sud­den car­diac death, and sud­den ar­rhyth­mic death syn­drome (SADS), early di­ag­no­sis and in­ter­ven­tions are cru­cial. It can af­fect peo­ple of all ages. In many cases, it is an in­her­ited con­di­tion caused by a ge­netic ab­nor­mal­ity, so sev­eral fam­ily mem­bers can be im­pli­cated. Paul was pre­scribed beta block­ers, which help im­prove

Paul Dawe with his daugh­ter, Sarah

the func­tion of the heart, and he was ad­vised to avoid any form of stren­u­ous phys­i­cal ac­tiv­ity.

Fol­low­ing the di­ag­no­sis, Paul phoned his wife. “It was so scary. When I told Rose, she was ab­so­lutely shocked,” he re­calls. He was then re­ferred to the Mater’s Fam­ily Heart Screen­ing Clinic at Heart House. This is a char­ity-funded pub­lic screen­ing cen­tre for peo­ple at risk of hav­ing a ge­net­i­cally in­her­ited heart dis­ease. “These peo­ple may have a fam­ily his­tory of sud­den car­diac death or SADS, or may have a liv­ing fam­ily mem­ber with an in­her­ited car­diac dis­ease,” says, Dr McGor­rian, speak­ing for the or­gan­i­sa­tion.

Soon af­ter, Paul and Rose’s daugh­ter, Sarah, had an MRI scan, which re­vealed that she was suf­fer­ing from the same con­di­tion as her dad. “I was ab­so­lutely shocked,” says Sarah, a gen­tle, charm­ing 25-year ac­counts as­sis­tant. “I had never felt that I had any­thing at all wrong with me.” Like her fa­ther, she used to get tired when she ex­er­cised, and, just like him, she as­cribed it to lack of fit­ness.

Ini­tially, Sarah was not given beta block­ers, but she was mon­i­tored on a reg­u­lar ba­sis. As part of that process, she had an­other MRI scan last year, which re­vealed that the en­large­ment of her heart had in­creased. She is now wait­ing for a de­fib­ril­la­tor to be im­planted. “They had told me I might need one in the fu­ture; but I thought they meant when I was in my 40s,” Sarah says. “So I was stunned when they told me re­cently I’d need one soon. They used to put them in the chest, but now they in­sert them more to the side, where they are less in­va­sive.”

The de­fib­ril­la­tor will en­sure Sarah’s heart beats at a reg­u­lar rhythm. “I’ve al­ready met the doc­tor who will do the pro­ce­dure,” says Sarah, “and I have been told that this will not pre­vent me from hav­ing a fam­ily in the fu­ture.”

In 2015, Heart House re­ferred Paul and Rose’s other chil­dren, Bran­don and Jonathan, the twins, to Our Lady’s Chil­dren’s Hospi­tal, Crum­lin, where they ini­tially tested neg­a­tive for the heart con­di­tion. How­ever, a fur­ther test last De­cem­ber re­vealed that Bran­don had early signs of car­diomy­opa­thy. “Rose burst into tears,”

‘By then, I knew for cer­tain some­thing was on the cards and I re­alised that my life was about to change for­ever’

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