Eliza’s Journey

Eliza was diagnosed with late-infantile Metachromatic Leukodystrophy (MLD) on September 11, 2007 after months of frustration and misdiagnosis.  Up to this point, Eliza was a “typically developing child” who reached all of her milestones on time, if not early.

In April 2006 she developed sudden onset Esotropia, which caused her eyes to cross.  Her first MRI came back normal and two surgeries were performed to correct her eyes.

Although she was able to walk, her gait was very wobbly and she fell often.  Doctors assured us that this was normal and that it was just taking a little longer for her gait to develop.  However, Eliza’s walking did not improve and she could not run or jump.

In April 2007, Eliza started walking less and less and reverted to crawling again.  Her ophthalmologist checked her eyes once again and referred us to a neurologist.

Initially, the neurologist suspected Spinal Muscle Atrophy (SMA) but this was quickly ruled out from a nerve conduction test.  It was then assumed that Eliza had Charcot-Marie-Tooth Disease (CMT).

Eliza continued to get weaker and weaker and more and more tired.  We started to see a decline in her arms and hands as well as her legs.  We could not believe how quickly she was declining despite our efforts with physical therapy.  Nurses assured us that this decline was normal for CMT but we were not convinced.

We began seeking additional opinions from various doctors throughout the U.S.  Another neurologist agreed that Eliza was declining too rapidly and encouraged us to have more tests performed.

In July 2007, Eliza was given the diagnosis of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP).  We were thrilled because CIDP is an autoimmune disease that is somewhat reversible!  We thought that with enough hard work we would have our mobile little girl back.

However, Eliza’s entire body became extremely stiff and she was in tremendous pain.  In September, an emergency MRI was ordered that confirmed our greatest fear.  Eliza had Metachromatic Leukodystrophy- a progressive and terminal disease.

One short month after her diagnosis, Eliza lost the ability to crawl, sit up, talk and eat independently (she now has a feeding tube).  She can no longer see but she enjoys listening to the sounds around her.

It is amazing how much MLD has changed our lives; we hope it has changed us for the better.   Eliza has taught us how to live life to the fullest and not take anything for granted.  We get excited about the smallest things- smiles, sneezes, and her little stretches as she yawns.  She has touched countless lives, without being able to say a word.  She is truly a silent example to all who come in contact with her.  We feel fortunate to be her parents and to learn from her.  She has taught us far more than we will ever teach her.