Amanda Scott and Jason Rule knew it was love at first sight.  As a young inseparable couple finishing college, their life took a turn when Amanda became pregnant.  A bit nervous about the future, both of them greeted their new lives with excitement.  Their daughter, Payton was born and everything seemed to be wonderful.  Wanting to be a teacher, Amanda had a lot of knowledge about early childhood development.  So when Payton couldn’t support her head well, she knew something was going on…but neither parent could have imagined the road young Payton was about to take.  Here is a list of some of her personal symptoms and a brief version of the path she took to get a final diagnosis.

Some of the symptoms she showed over time:

• Payton’s parents took her to her pediatrician and he told them not to worry.  That she was a “floppy baby” and that in time she will catch up.  He diagnosed her with Hypotonia, more commonly known as poor muscle tone.  Time was the prescription.
• At 4 months old, she lifted her head.  However at 6 months old, she wasn’t sitting up yet.  Doctor had the same diagnosis.  But the parents felt something was off. 
• Their daughter continued to have low strength was in constant need of help.  Their doctor then suggested physical therapy.  But by 14- 15 months old, Payton still wasn’t walking and was extremely wobbly.  Their doctor still insisted that she was just a late bloomer.  
• At 22 months, Payton finally took her first steps.  Within a few months Payton’s hand showed a slight tremor.  The doctor said the same thing- part of Hypotonia and they shouldn’t worry.  At that time, Amanda and Jason got a second opinion.  Unfortunately it was the same. Over the next few years, Jason and Amanda took Payton to numerous specialists.  All of them kept telling them the same thing.  
• Amanda then found Dr. Anne M. Connolly, professor of Neurology and Pediatrics who happened to specialize in children with motor skills issues.  After running tests on her nerves, Dr. Connolly believed she had the answers…Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), a rare disorder where the immune system attacks the body…and treatment is promising.  Payton was started on the intense treatment, but within 6 months she had not gotten any better.  The doctor rethought her diagnosis and decided to run a genetic test…finally giving them an answer.

Final Diagnosis:

• Charcot-Marie-Tooth Disease (CMT) – a genetic condition that affects the nerves.  In most healthy people, nerves are surrounded by myelin which helps in transmitting information to the body.  In patients like Payton, the myelin doesn’t form properly and the nerves get damaged and are unable to send proper messages to the muscles causing patients to lose control of their movements.

What is ahead for her:

• There is no cure for CMT and Payton’s form is extremely rare.  So there isn’t a lot of information about what to expect.  She sort of has her “own disease”.  All of her symptoms were related to this disease.  As her nerves progressively get more damaged, Payton will lose more control over her body. 
• Dr. Connolly recommended physical therapy, especially swimming.  This is a lifelong treatment that may help to slow down the progression.

Why did this take so long to figure out?  The genetic cause fro her disease was only discovered about a year before her diagnosis.  Today, Payton is an active 6^th grader.  Although she knows one day she may end up in a wheelchair, she is living a full, active life.  Her courage is amazing…and I only hope a cure for CMT is found soon.