Jacob Crites of Granite City was born with a very rare Mitochondrial disease known as “Leigh’s Syndrome”, and there is a benefit fundraiser for him on August 21st at Bindy’s Bar.
Benefit Info:
Saturday, August 21, 2010 7:00 until ?
Bindy’s Bar and Grill (Next to Kmart)
3705 Nameoki Road Granite City, IL
Tickets $8 per person for appetizers
Jacob’s Story
Up until 14 months of age, Jacob was developing with the normal infant milestones. Throughout this time, he only had issues with seasonal allergies and one episode of an ear infection. He was not walking independently but would take a couple steps on his own.
On April 7, 2010, Jacob began what we thought was a stomach virus because of a few vomiting episodes. On April 11, after waking from a nap, Jacob was sitting on the floor playing with his big sister and began to have a metabolic stroke. This began with the loss of coordination in his right arm and numbness/droopiness in the right side of his face. We rushed Jacob to the ER at our local hospital. After a CT Scan (check for brain bleed), spinal tap (check for meningitis), and blood work for infection, the test results were normal. During the two hours we were at the ER, we noticed Jacob having less control of his body. He also lost the ability to focus his eyes and began having involuntary movements, which we later learned was Choreoathetosis. We were then taken by ambulance to St Louis Children’s Hospital to begin a 2 week stay.
The pediatric neurologists ordered an EEG (to test for seizures) and an EKG (to test his heart), both test results were normal. Many blood tests were ordered, but by this time he had become extremely dehydrated and his blood clotted before the nurses could get it out of the room. An MRI was ordered and a second spinal tap to once again check for meningitis and perform additional tests.
The results of the MRI showed damage to his basal ganglia from the metabolic stroke. The good news is that he didn’t have any cognitive damage, so his ability to learn is still there. After receiving some results from blood work, the neurologists determined that he didn’t have a metabolic disorder, it was a mitochondrial disorder, but the question was which one. A blood DNA test was ordered.
During our hospital stay, Jacob received physical, occupational, and speech therapy. As a result of the damage to his basal ganglia, Jacob lost all of his muscle tone as well as the ability to swallow. Jacob’s weak and floppy body was similar to a newborn baby. By the third day in the hospital, Jacob was able to focus his eyes and began to smile and even giggle. An ophthalmological exam was performed, the test was normal.
Jacob was receiving IV fluids but was not getting the nutrition he needed by mouth. He received an NG feeding tube, but after 3 days of pulling the tube out of his nose, it was recommended to perform surgery to insert a G-tube. This would allow him to get his necessary nutrition as well as enable us to take him home. He received this on April 22, as well as having a muscle tissue biopsy to test for mitochondrial diseases. We were finally discharged from the hospital on April 25. At that time we did not have a diagnosis as the DNA blood test and muscle tissue biopsy would take about a month to come back.
On May 19, 2010 the results of Jacob’s DNA tests came back, and were later confirmed by the muscle tissue biopsy. Results were that he has Leigh’s Syndrome in 100% of his blood cells.
As of July 2010, Jacob receives a cocktail of vitamins (Thiamine, CoEnzyme Q10, Riboflavin, and Vitamin C) and continues to receive therapy several times a week. He can now successfully hold his head up, roll over, eat several bites by mouth, and point with his right hand. He is working very hard at learning to sit up and point with his left hand. Jacob will be receiving leg braces in late July to help him strengthen his legs as well as getting evaluated for a communication device since he cannot form any words. Through all of this, Jacob has kept his personality and is a happy, loving boy. He still loves to go outside, play peek-a-boo and scaring mom and sissy when they come into a room.
What is a Mitochondrial Disease?
These diseases result from failures of the mitochondria. There are between 500 and 2000 of them in every cell of the body, except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised.
What is Leigh’s Syndrome?
First diagnosed in 1951, Leigh’s is an inherited and progressive neurometabolic disorder. Crucial cells in the brain stem have mutated mtDNA, creating poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn, affects the central nervous system and inhibits one’s motor skills.
Leigh’s has a general onset in infancy or childhood between the age of three months and two years, often after a viral infection. In rare cases, teenagers and adults have been affected as well. One estimate of the incidence of Leigh’s disease is 1 in 77,000 births. However, this may be an underestimate since mitochondrial diseases tend to be under-diagnosed and misdiagnosed.
What are the Signs and Symptoms?
The child affected often appears normal at birth but typically begins displaying symptoms within a few months to two years of age. The disorder worsens rapidly; the first signs may be loss of head control, poor sucking ability, and loss of previously acquired motor skills, meaning the control of particular groups of muscles. Loss of appetite, vomiting, seizures, irritability, and/or continuous crying may accompany these symptoms. As the disorder becomes worse, other symptoms such as heart problems, lack of muscle tone (hypotonia), and generalized weakness may develop. In rare cases, Leigh syndrome may begin late in adolescence or early adulthood, and in these cases, the progression of the disease is slower than the classical form.
What are the Goals for Treatment?
At this time, there is no cure for Leigh’s Syndrome. Treatments generally involve variations of vitamins, often in a “cocktail” combination. This “cocktail” will help alleviate symptoms as well as slow down the progression of the disease. Treatment will not reverse the damage already sustained. Often times, patients will go through extensive therapy sessions (physical, occupational, and speech therapy) in order to improve the quality of life.
What is the Prognosis?
The prognosis for this disease is poor. Life expectancy is usually about a year to three years within the onset of symptoms. Some patients live to be 6 or 7 years of age and in rare cases patients have survived to the mid-teenage years.
Additional Information
Much of the information contained on this page has been taken from the following sites. Please visit them for more information on mitochondrial disease and Leigh’s Syndrome:
www.umdf.org- United Mitochondrial Disease Foundation
www.wemove.org- Worldwide Education and Awareness for Movement Disorders
