Researchers at the Sahlgrenska Academy have discovered a previously unknown congenital disease that is caused by a genetic defect resulting in muscle cells not being able to store energy from sugar. In the worst case, the disease can lead to the heart stopping.

The researchers identified three sisters who had previously had an undetermined disease. Their parents must have both been carriers as that is what is needed for this congenital heart defect to transpire. The eldest of the siblings collapsed suddenly while on a playground and died. She had previously been treated for epilepsy with diminished energy and strength.

It wasn’t till after her death and a post mortem exam that they discovered that her heart was not “normal”. When the next sibling started with similar symptoms, they biopsied her heart and found the same… the heart muscle lacked glycogen, one of the major sources of fast energy for muscles.

How is that imperative? When the heart muscle, which is constantly at work, is strained it must derive energy from glycogen. This research could also prove to be a stepping stone for type 2 diabetes as well as saving many of children’s lives.

Post from: Blisstree

A Fatal Congenital Heart Defect Is Identified

That is just what one very special 15 year old young lady got to do last week. MacKinzie Kline was born with heterotaxy syndrome, meaning her heart has one ventricle instead of two. She has never let this slow her down though. she has dreamed big and reached for the stars. She has surpassed everyone’s expectations and can play a mean game of golf.

Kline’s drive will be rewarded this week. The 15-year-old rising junior golfer who was born with a congenital heart defect will play in her first LPGA Tour event, the $2.6 million Ginn Tribute near Charleston.

How cool is that? Annika Sorenstam gave her a tournament exemption, being that she was hosting it. Mac was also granted a landmark ruling by the LPGA in her favor. She is able to ride a cart due to her heart defect, as well as use her oxygen throughout her round of golf.

But don’t ask her is she is disabled. “Disabled is not a word we use around our house.” And don’t expect any pity parties. Mac and her parents live the closest to “normal” life as they can. Well as normal as a family that has a rising amateur golf star on their hands!

Kline hopes sharing her story will prove to others they don’t have to be defined by their defects. “I hope it reaches a lot of people,” she said. “Kids should know they can still do the things they want.”

You go MacKinzie! By the way, she even had to have surgery last year to repair a hole that had developed in her heart. You are an inspiration for all of us, regardless of age. I only hope that my girls are as strong willed and determined as she is. What a great story!

via Fox sports

Post from: Blisstree

MacKinzie Kline Set To Play In First LPGA Tournament, Regardless Of Her Heart Defect