What’s rare is not al­ways beau­ti­ful

The mother of two chil­dren with rare con­di­tions on the joys and chal­lenges the con­di­tions have brought into ev­ery­one’s lives

The Irish Times - Tuesday - Health - - Health - Karen Caf­ferky

In 2014, our son Ethan was di­ag­nosed with a rare con­di­tion called pae­di­atric au­toim­mune neu­ropsy­chi­atric disor­der as­so­ci­ated with strep­to­coc­cal in­fec­tions, known by the acro­nym Pan­das. The fol­low­ing year, our daugh­ter, Au­tumn, was di­ag­nosed with a dif­fer­ent, but also rare, con­di­tion known as 22q11.2 dele­tion syn­drome (also re­ferred to as DiGe­orge syn­drome or VCFS). We knew noth­ing about ei­ther con­di­tion be­fore diagnosis and now prob­a­bly know more about both con­di­tions than most doc­tors in the coun­try.

In 2012, aged just three, our son de­vel­oped strange tics, rolling his eyes and clench­ing his fin­gers. The doc­tors could not ex­plain it and his symp­toms con­tin­ued to de­velop. By age four, the tics or chorea-like move­ments were so bad that he couldn’t walk straight or eat or drink prop­erly with­out jerk­ing. Ethan also de­vel­oped se­vere anx­i­ety and OCD, which es­ca­lated so much that we were afraid to have a con­ver­sa­tion with him for fear of say­ing the wrong thing and set­ting him off into melt­down. He was afraid of ev­ery­thing and we had to re­move all pic­tures from his room and even his bed cov­ers from his bed. He couldn’t wear cer­tain clothes or un­der­wear be­cause of the pic­tures on them.

We saw many spe­cial­ists – in­clud­ing pae­di­a­tri­cians, neu­rol­o­gists, psy­chol­o­gists, psy­chi­a­trists. Each one would ask about his his­tory, his birth, about com­pli­ca­tions, of which there were none. I re­mem­ber say­ing at the time, “if you were ask­ing me this about my daugh­ter it would make more sense” be­cause the ques­tions were more rel­e­vant to her.

Af­ter 15 months of symp­toms, we fi­nally got a Pan­das diagnosis for Ethan from a neu­rol­o­gist in Our Lady’s Chil­dren’s Hos­pi­tal, Crum­lin, which un­for­tu­nately was re­lo­cated shortly af­ter­wards. We had such hope hav­ing re­ceived a diagnosis but, un­for­tu­nately as with many rare con­di­tions, there was lit­tle or no un­der­stand­ing of the con­di­tion in the med­i­cal and psy­chi­atric com­mu­nity and no pro­to­col on how to treat it. Worse still, many in the med­i­cal com­mu­nity con­sider Pan­das con­tro­ver­sial. Some doc­tors turned us away, not even will­ing to take a re­fer­ral; most were very cau­tious and, even if will­ing to help, were not sure how. Then there were those who sim­ply did not be­lieve, as if it was based on some sort of re­li­gious be­lief rather than sci­ence.

Take ac­tion

Months af­ter his diagnosis our son had re­ceived no treat­ment, so I de­cided I had to take ac­tion to spread aware­ness of the con­di­tion and im­me­di­ately set about or­gan­is­ing a med­i­cal con­fer­ence, bring­ing Pan­das ex­perts from the US and Den­mark to Dublin.

It was a hec­tic time for the fam­ily, a lot of fo­cus was on our son and the con­fer­ence, but I also no­ticed some sub­tle be­havioural changes in our daugh­ter. Once a very placid child, she be­gan hav­ing tantrums, be­came anx­ious, started count­ing num­bers in her head and even dis­played some tics-like symp­toms, bend­ing her hands, blink­ing strangely and kick­ing her legs up be­hind her. My heart sank, think­ing that she too had Pan­das. Know­ing the bat­tle we would face again if she did was so dis­heart­en­ing.

At the con­fer­ence, I was re­lieved to meet a cou­ple of doc­tors in Ire­land who knew about it and had been treat­ing Pan­das pa­tients for some years. It fi­nally felt like we were mak­ing progress and we were able to get ap­point­ments for our son. I brought my daugh­ter along to one of the ap­point­ments and de­scribed her symp­toms. The neu­rol­o­gist didn’t think hers was a case of Pan­das but noted that she looked sick and im­me­di­ately re­ferred her to a pae­di­a­tri­cian, which would even­tu­ally bring us to our sec­ond rare diagnosis.

Our daugh­ter’s birth was a lit­tle more mem­o­rable than her brother’s, for all the wrong rea­sons. Dur­ing labour Au­tumn’s heart rate dropped and sud­denly there was con­cern for her well­be­ing. The room quickly filled with medics scur­ry­ing about and en­sur­ing her swift de­liv­ery. To us she looked per­fect and my hus­band went to call the grand­par­ents with the happy news. While he was gone I was asked whether I taken drugs or drank al­co­hol while preg­nant, which I had not, and strangely enough whether I recog­nised my daugh­ter. Shortly af­ter birth she was taken and spent her first days in an in­ten­sive care unit, where at one point she stopped breath­ing. Af­ter three days, she was given the all clear and sent home with us, much to our relief. She was very tiny and spent the next two years un­der the care of Tem­ple Street Chil­dren’s Uni­ver­sity Hos­pi­tal hav­ing numer­ous and var­ied ge­netic tests and ap­point­ments be­fore be­ing dis­charged. She had many chest in­fec­tions as a child, slight asthma and had prob­lem with con­sti­pa­tion, pains in her tummy and gen­er­ally looked un­well, but over­all she was a lit­tle trooper who just got on with things.

Ap­point­ments clashed

Dur­ing 2015, the pae­di­a­tri­cian to whom she was re­ferred ar­ranged a sched­ule of tests for Au­tumn in­clud­ing cys­tic fi­bro­sis, growth hor­mone and fur­ther ge­netic test­ing. Life was very busy for us go­ing from ap­point­ment to ap­point­ment with both chil­dren. Some­times ap­point­ments clashed and my hus­band would have to take one child and I would take the other. All this time we were deal­ing with Ethan’s symp­toms that we had not yet got un­der con­trol

Aware­ness is vi­tal to mak­ing their lives a lit­tle eas­ier; bet­ter un­der­stand­ing of th­ese con­di­tions will lead to im­proved med­i­cal sup­port, psy­chi­atric sup­port and sup­port in school to en­able our chil­dren and chil­dren like them to strive

and we were still fight­ing hard to get the cor­rect treat­ment for him.

In Novem­ber 2015, we even­tu­ally got a high-dose an­tibi­otic for our son that was to be key in bring­ing his symp­toms un­der con­trol. The same month, we got a call to say our daugh­ter had a ge­netic mi­crodele­tion called 22q11.2 DS, a con­di­tion she was born with – she was now eight years old. Our world was sent into dis­ar­ray yet again with a new con­di­tion we had never heard of, with one small con­so­la­tion be­ing that doc­tors could not deny its ex­is­tence. 22q11.2 DS is a miss­ing piece on the 22nd chro­mo­some and brings with it 180 dif­fer­ent symp­toms af­fect­ing al­most every sys­tem in the body: heart, palate, kid­neys, im­mune sys­tem, brain. It is the most com­mon syn­drome af­ter Down syn­drome. No two peo­ple liv­ing with the syn­drome will have ex­actly the same symp­toms.

We have spent the past year go­ing from ap­point­ment to ap­point­ment as­sess­ing how the syn­drome af­fects Au­tumn – car­di­ol­ogy, im­munol­ogy, ENT, palatal assess­ment, the list goes on. There is no cure for her con­di­tion but symp­toms can be man­aged. We have nav­i­gated through th­ese ap­point­ments, mainly our­selves, with great guid­ance and sup­port from 22q11 Ire­land, a vol­un­tary char­ity set up by de­ter­mined moth­ers of chil­dren with 22q, headed up by Anne Lawlor.

Our lives have changed in­ex­pli­ca­bly in the last few years; our wor­ries used to be about creche fees, traf­fic jams and neg­a­tive eq­uity. Now we live in rented ac­com­mo­da­tion, I am un­able to work full-time due to the ex­tra ap­point­ments and care re­quired by our chil­dren, and every penny we have is spent on their health. I feel sad when I see other fam­i­lies or­gan­is­ing their busy lives around their chil­dren’s ex­tracur­ric­u­lar ac­tiv­i­ties when ours are or­gan­ised around our chil­dren’s med­i­cal ap­point­ments, 32 and count­ing so far this year. It is fair to say that we are con­sumed by our chil­dren’s rare con­di­tions. I spend my time read­ing med­i­cal re­search ar­ti­cles and shar­ing them with other par­ents and doc­tors at every op­por­tu­nity, even when they may not ap­pre­ci­ate my en­thu­si­asm. It’s a lonely place; our chil­dren’s of­ten in­vis­i­ble con­di­tions make it dif­fi­cult for oth­ers to un­der­stand.

Del­i­cate bal­ance

Our son’s health is such a del­i­cate bal­ance that his symp­toms can ex­ac­er­bate at any time. We are al­ways watch­ing, wait­ing, as­sess­ing and mostly guess­ing what is the right thing to do next. Doc­tors don’t have the an­swers for us. I am for­ever hope­ful that he will come out the other side of all this rel­a­tively un­scathed as he grows and his im­mune sys­tem de­vel­ops, but there are no guar­an­tees. Our daugh­ter’s diagnosis is per­ma­nent. Dif­fer­ent is­sues may arise at dif­fer­ent times in her life, both phys­i­cal and psy­chi­atric, and we are not sure what the fu­ture holds for her. Like all peo­ple liv­ing with this syn­drome, life will be a lit­tle more chal­leng­ing for her to nav­i­gate but we will be there to help her reach her full po­ten­tial.

So when I say “what’s rare is not al­ways beau­ti­ful”, that is no re­flec­tion on our two beau­ti­ful chil­dren, it’s a re­flec­tion on th­ese rare con­di­tions that make their lit­tle lives more dif­fi­cult and have robbed some of their child­hood. Rare means hav­ing to work harder and fight harder for treat­ment, sup­port and ben­e­fits. It means hav­ing to ed­u­cate ev­ery­one as you go – doc­tors, teach­ers and friends. Aware­ness is vi­tal to mak­ing their lives a lit­tle eas­ier; bet­ter un­der­stand­ing of th­ese con­di­tions will lead to im­proved med­i­cal sup­port, psy­chi­atric sup­port and sup­port in school to en­able our chil­dren and chil­dren like them to strive.

That’s why I’m here put­ting my fam­ily in the pub­lic eye and writ­ing this… with plenty of op­ti­mism for a great fu­ture for our chil­dren.

Some doc­tors turned us away, not even will­ing to take a re­fer­ral, most were very cau­tious and, even if will­ing to help, were not sure how. Then there were those who sim­ply did not be­lieve

PHO­TO­GRAPHS: BRIAN FAR­RELL

Karen Caf­ferky and her hus­band, Joe Hurl, with their chil­dren: Ethan, who was di­ag­nosed with a rare con­di­tion called pae­di­atric au­toim­mune neu­ropsy­chi­atric disor­der as­so­ci­ated with strep in­fec­tions (Pan­das); and Au­tumn, di­ag­nosed with a dif­fer­ent, but also rare, con­di­tion known as 22q11.2 dele­tion syn­drome.

Left and above right: Karen and Joe have been work­ing to raise aware­ness of their chil­dren’s rare con­di­tions

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