On February 7, 2009, I gave birth to a beautiful baby boy. He weighed a healthy 7 lb. 14 oz. and was perfect in every way. We were blissfully unaware of the struggle we had ahead of us. When Lex was 7 weeks old, we took him to his pediatrician because he had a low-grade fever. Our pediatrician always did a thorough exam, but this time was different. I knew right away that he was seeing something very wrong. He said Lex was “floppy” and wasn’t tracking with his eyes (his eyes did not follow an object being passed in front of them). We took him in to see a pediatric neurologist within a week. The neurologist did another very thorough exam including checking different reflexes. He told us that Lex seemed ok and there was no need to run any tests. I should have felt relief, I but didn’t. Our pediatrician has been seeing our kids since 2004 and has never steered us wrong. Therefore, I kept a close eye on his progress or should I say lack of progress. By 6 months of age, he was not reaching any of his milestones. He couldn’t roll over or sit up. He was even having trouble suckling.
We were referred to another neurologist that was more aggressive in diagnosing. He ordered a MRI of his brain and several blood and urine tests looking for all kinds of metabolic disorders. The blood and urine tests came back normal. The MRI showed some demyelination of the white matter. The neurologist explained that the white matter helps to send communications to neurons. He compared it to train tracks. The “tracks” in Lex’s brain where damaged. Luckily, babies’ brains are constantly making new connections. Therefore, as long as his damage was caused by something like cerebral palsy and not a progressive debilitating disease, we could help him make and keep new connections. Six months later, he had another MRI and a new batch of blood tests. Again, all the blood tests came back normal. The MRI showed no change. No change was good. This meant it didn’t get worse and we were probably dealing with cerebral palsy (CP). His testing all pointed to CP, but his symptoms didn’t. Most people with CP have very tense muscles, while Lex’s are floppy. He also didn’t have a traumatic birth and he was a full term baby.
We were sent to a geneticist for more testing. They did DNA sequencing and checked for some other rare disorders. Again, everything came back normal. Lex’s neurologist then gave us a choice. We could stop the testing and he would be comfortable giving him the diagnosis of CP, or we could do some more testing to make sure. The testing (a muscle biopsy and lumbar puncture) would be invasive and expensive. He explained if the tests came back positive, there is no cure and no treatment. The decision was very difficult to make. He had already been through so much in his little life. We decided to go ahead with the testing. Even if there is no cure now, there might be one day. I wanted to be sure of what he was facing for the rest of his life.
We traveled to Atlanta, Georgia, to see Dr. Shoffner. Lex was put under anesthesia for about an hour while they got a muscle sample from his thigh, (about a 2-inch incision) did a lumbar puncture, and of course more blood work. We would have to wait almost two months for the results. We found out that Lex has mitochondrial disease caused by a genetic mutation in is mitochondrial DNA. Mitochondria are commonly known as the powerhouse of the cell. Most cells in your body (with the exception of red blood cells) contain mitochondria. The mitochondria make energy for your cells to function. Mutations in the mitochondria will make the mitochondria fail to produce energy. When the mitochondria fail to make energy for your cells, your cells die. If enough cells in your organs die, the organ will start to fail. There are many types of mitochondrial disease. Lex’s type does not have a name because it is very rare. Only 17 people in the world are known to have his specific mutation. Unfortunately, there have been no studies on his mutation and we have no idea what his disease has in store for him. He will be 4 years old in February and is functioning on the same level as a typical 2 year old. He has low muscle tone that causes delays in both fine and gross motor skills and suffers with muscle pain frequently. He walks with a walker because his poor posture is causing scoliosis. He has a speech delay and is just starting to learn to talk. He has a lot of sensory issues that cause him to have anxiety around large crowds and new places. He gets physical therapy (for gross motor skills), occupational therapy (for fine motor skills), and speech therapy. He is also in ballet class to help with balance and posture. Lex has to work harder than most kids just get through a normal day. Despite everything he has going against him, he wakes up every morning with a smile plastered on his face eager to start the day.
The UMDF was formed by families affected by mitochondrial disease. The UMDF provides support to families and funds mitochondrial disease research. Since 1996, the UMDF has funded nearly $11 million in research projects aimed at finding better treatments for mitochondrial diseases, with the ultimate goal of a cure. This research has increased the understanding of mitochondrial function, improved diagnosis and moved us closer to treatments and, ultimately, a cure for those who face this devastating disease.
Grants have supported research for one to three years at institutions across the United States, Canada, Europe, and Australia. Recently, projects have included studying what mechanisms in abnormal mitochondria cause muscle dysfunction, enzyme replacement therapy and other potential treatments, as well as developing models for specific mitochondrial disorders.
Mitochondria produce more than 90 percent of the body’s energy. When these tiny parts of the cell can’t do their job, the body doesn’t get the energy it needs, resulting in a wide range of debilitating and sometimes fatal symptoms. Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1,000 to 4,000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine, we now know the disease is approaching the frequency of childhood cancers. Many people who suffer from mitochondrial disease are frequently misdiagnosed due to a lack of specialists. This is why we need your support.
Through research, the medical world will one day have the resources to help children like Lex. Through the UMDF, money donated to this fund goes to research in Lex’s name. Until then, please help his family and the UMDF “redefine hope” for everyone affected by mitochondrial disease through a donation to the Lex Santo Research Fund.
We need more research to find a cure.
We thank you for your love and support,
The Family of Lex Santo