• Victims– Infants between the age of 3 months to 2 years old

– Rarely in teens and adults

• Prognosis– The prognosis for people who obtain this disease is

“poor”. There are not any specific statistics that can be shown. I have come to this conclusion by seeing each case I have looked at and they say that the prognosis is “poor”.

• Medications– The most common treatment for Leigh’s disease is thiamine or Vitamin

B1

– Oral sodium bicarbonate or sodium citrate may be prescribed to manage lactic acidosis

– A high-fat, low-carbohydrate, diet may be recommended

• Cause– Mutations in Mitochondrial DNA or by deficiencies of pyruvate

dehydrogenase

• Future of Leigh’s Disease– They are trying to understand what causes this disorder and to apply it to

new findings to new ways to diagnose, treat, and prevent this disease

•

June 6, 2003

Kira Pauline Bekker was born today at 12:31AM. She weighed a healthy 7lbs. And 9 oz. She was 21.75 inches long. She had black hair and fair skin. Has a 2-year old brother, Lucas.

•

Her 1st 5 months of life

For these 1st five months of her life she endlessly cried. When see was 3 months old and it wasn’t getting any better they took her to the family doctor. He noted her poor muscle strength and her irritability. Then he immediately referred them to a pediatrician that they met with that afternoon. The pediatrician thought she had something wrong with her brain.

•The months after her first 5 months of life

Kira had to undergo several tests. She had routine genetic screens, other blood work, VEP which showed see was blind, ABR showing she had a hearing impairment, CT scans which were normal, EEG showing she had very abnormal brain waves, and MRI’s showing she had delayed mylenation.

•Halloween 2003

Kira was hospitalized for seizures and they treated her with different anti-seizure medicine. One was a steroid that had many side effects but the most concerning was that it would make her immune system weaker which would make her more pron to get colds and infections. At the time they worried that any more colds or infections would make her more irritable. What they didn’t know at the time was that each cold or infection could speed up her disease.

•November 28, 2003

They took her to the emergency room because she was having difficulty breathing. They thought it was the onset of coupe so they sent her home. The following day she was returned to the hospital by ambulance because she was in distress. Once she was on a monitor they realized her heartbeat was at 47 when the normal infant resting heart rate shouldn’t be any lower than 80. She was then rushed to the ICU unit where she stayed for the next 12 days. Kira’s brain stem had been severely damaged. This is the basis of her diagnosis for Leigh’s Disease. They put her on a diet and many vitamins.

• New Year 2004 Her parents began to treat her for comfort not her disease. So they took

her off the diet and vitamins because it was not improving her symptoms, luckily nothing happened by doing this. After almost 2 months in the hospital they decided to take her home and treat her there were everyone was more comfortable. They had health care workers come to help them care for Kira. At night they had people come during the night to care and watch over her. May, their nanny, helped with Kira and Lucas during the weekdays. Her doctors came for regular visits. They felt she didn’t have much time to live but she continued to fight.

• May 2004 They decided to have her go through surgery to place a feeding tube

directly into her stomach. She extremely disliked having the tube taped to her face. Her surgery was a success and she handled it very well. It made everyone's life easier.

• June 2004 They celebrated her 1st birthday. Everyone was thrilled. They helped

celebrate her birthday with a Fundraiser their 1st of many. They raised over 50,000 dollars for the Alberta Children’s Hospital.

• Fall 2004 The doctors warned them that the winter season would be hard. She

battled several colds and viruses each one taking a toll on her immunity and strength.

• Christmas and New Years Things seemed to get better and everyone was in good spirits.

• January 4, 2005 The nurse that night awoke them thinking she was gone but her mom

picked her up and she began breathing. She fought until early afternoon when she passed peacefully with her mother and father holding her.