Thursday, December 6, 2012

Lex's road to diagnosis

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 does 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 didn't follow an object being passed in front of them). We had 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, but didn't. Our pediatrician has been seeing our kids since 2004 and has never steered us wrong. So, I kept a close eye on his progress ( I should 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, baby's brains are constantly making new connection. So, 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 can do some more testing to make sure. The testing ( a muscle biopsy and lumbar puncture) would be invasive and expensive. He explained that 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 2 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 power house 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 cause 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 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. If you have any questions about his symptoms or diagnosis, please feel free to ask.

Saturday, November 17, 2012

The Day Our Lives Changed

One year ago this month I got the call from Lex's neurologist to inform us of his diagnosis of mitochondrial disease.  I very clearly remember being told that it was a diagnosis too complex to go over in a phone conversation and we would need to come into the office to discuss it. The days between that phone call and our appointment felt like years.  I went through a whirlwind of feelings. From confusion to disbelief to anger and sadness. I also felt very alone with no one that understood what was happening. Although I have an abundance of supportive family and friends, they were in the same confused state I was.  I stayed awake for several days and did nothing but read everything I could find about this mystery disease that I had never even heard of before now. So many questions, how was I supposed to sleep? How did this happen to him? What does this mean for Lex's future... Our families future?  Will he even live to have a future?  I wasn't getting answers any faster by reading about it online.  I was just getting more reasons to worry. We spent his entire life before this taking him to specialists and having every test imaginable with everything coming back "normal". We thought with almost 100% certainty that Lex had atypical cerebral palsy.  We thought he had a brain injury from birth and if we worked really hard with him while he is young, we could "train" his brain and he would get stronger and live a long "normal" life. We didn't expect for any of these tests that looked for such horrid diseases to actually come back positive for one.  One phone call and our lives were changed forever.  Although nothing about Lex had actually changed, knowing his diagnosis completely changed the way we live our lives.  We have to allow his body plenty of rest, where we used to push him to his limits to make him stronger.  We adjust our schedules to make sure he always gets the time he needs to recover from the day and fuel his body with food.  We look at things different now too.  Little things don't matter so much anymore.  We have less money and more medical bills ( and will for the rest of his life), but as long as we have his health it is worth it. The thing that has changed the most is the way I look at Lex. After that phone call, I started to see him as a victim. He was a fragile little boy that was a victim of  life. Through this year I have come to realize that he is no victim and certainly is not fragile. I now see him as the strongest kid I know. One that is brave and attacks life head on. He is an inspiration to me and my family. He has inspired us to spread awareness about his disease in hopes that one day the words mitochondrial disease are as well known and understood as the words autism and cancer. Maybe, one day when another mom gets that same phone call she can enter this new world with the support of people that understand this disease. Maybe she won't have to foolishly see her child as a victim like I once saw mine, but as the hero he is.