The chal­lenges of rais­ing a child with Rett Syn­drome

Medicine Hat News - - LIFESTYLES - Dr. Bhar­wani is a gen­eral sur­geon, free­lance writer, photographer and au­thor of A Doc­tor’s Jour­ney and Doc­tor B’s Eight Steps to Wellness. His lat­est book is avail­able at Shop­pers Drug Mart and Coles Book Store (Medicine Hat Mall), Nut­ter's (Dun­more Road)

Rett syn­drome (RTT) is a rare ge­netic neu­ro­log­i­cal and de­vel­op­men­tal dis­or­der that af­fects the way the brain de­vel­ops. The con­di­tion was first re­ported in 1966 by Dr. An­dreas Rett (an Aus­trian pe­di­atric neu­rol­o­gist) but has only re­cently be­come widely rec­og­nized as a dis­crete dis­ease en­tity.

It is a progressive in­abil­ity to use mus­cles for eye, body move­ments and speech. It is one of the most com­mon causes of men­tal dif­fi­cul­ties in fe­males.

Rett syn­drome af­fects ap­prox­i­mately one in 10,000 live fe­male births. There is less than one per cent chance of hav­ing a sec­ond child with Rett syn­drome.

It is rarely seen in males. Males have a dif­fer­ent ge­netic com­bi­na­tion from fe­males. Boys who have the ge­netic mu­ta­tion that causes Rett syn­drome are af­fected in dev­as­tat­ing ways. Most of them die be­fore birth or in early in­fancy.

Rett syn­drome is caused by a change in the DNA (mu­ta­tion) named MECP2 that is found on the X chro­mo­some.

Pre­sen­ta­tion of the dis­ease

Most ba­bies with Rett syn­drome seem to de­velop nor­mally at first, but af­ter about six months of age, they lose skills they pre­vi­ously had such as the abil­ity to crawl, walk, com­mu­ni­cate or use their hands.

Over time, chil­dren with Rett syn­drome have in­creas­ing prob­lems with the use of mus­cles that con­trol move­ment, co­or­di­na­tion and com­mu­ni­ca­tion. Rett syn­drome can also cause seizures and in­tel­lec­tual dis­abil­ity.

The most pro­nounced changes gen­er­ally oc­cur at 12 to 18 months of age, sud­denly, or over a pe­riod of weeks or months.

Seizures oc­cur in about half of cases. The girls typ­i­cally sur­vive into adult­hood, but are at risk of sud­den un­ex­plained death.

Rett syn­drome is de­scribed in four stages, al­though symp­toms will of­ten over­lap be­tween each stage. Signs and symp­toms of Rett syn­drome can be sub­tle in the early stages. If you be­gin to no­tice phys­i­cal prob­lems or changes in be­hav­iour of your child af­ter ap­par­ently nor­mal de­vel­op­ment then you should con­sult your doc­tor.

Ge­netic test­ing

If your pe­di­a­tri­cian sus­pects Rett syn­drome af­ter eval­u­a­tion, he or she may rec­om­mend a ge­netic test (DNA anal­y­sis) to con­firm the di­ag­no­sis.

Treat­ment

Al­though there's no cure for Rett syn­drome, po­ten­tial treat­ments are be­ing stud­ied. Cur­rent treat­ment fo­cuses on im­prov­ing move­ment and com­mu­ni­ca­tion and pro­vid­ing care and sup­port for chil­dren and adults with Rett syn­drome and their fam­i­lies.

Treat­ing Rett syn­drome re­quires a multi-dis­ci­plinary team ap­proach. Chil­dren with Rett syn­drome need help with most daily tasks, such as eat­ing, walk­ing and us­ing the bath­room. This con­stant care can be ex­haust­ing and stress­ful for fam­i­lies. Fam­i­lies need in­tense sup­port as well.

Sur­vival is rel­a­tively good and pa­tients are usu­ally over the age of 10 and 70 per cent are 35 years old.This pro­longed sur­vival im­plies pro­vid­ing multi-dis­ci­plinary care over the long term. There is a high in­ci­dence of un­ex­plained sud­den death in adult­hood.

For more in­for­ma­tion and sup­port con­tact Rett Syn­drome So­ci­ety of Al­berta at www.rettsyn­dromeal­berta.org and visit www.rett.ca

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