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MWS Stories

United States > Sammie

© Mowat-Wilson Syndrome Foundation

© Mowat-Wilson Syndrome Foundation

Sammie was born on June 23, 1997.  She was a whopping 8lb 14 oz!  During her first few hours of life, she gave us the scare of our lives and was transported from our hospital to Dartmouth Hitchcock Medical Center in Lebanon (NH) to their Level III NICU.  She spent a week there before finally coming home.

We always knew that something was just not right.  Samantha did not reach the milestones like a typical baby.  She was late in holding her head up, smiling, rolling over etc.  The next few months were filled with visits to specialty physicians including Cardiologists, Neurologists, Ophthalmologists, Otolaryngology’s and several trips to Children’s Hospital of Boston for what are now considered to be minor issues.

When she was about 9 months old, we met with our Pediatrician and discussed Samantha’s development and a diagnosis of Developmental Delays was given to us.  We were once again referred to more specialists and now therapists.  Sammie started an early intervention program that consisted of physical, occupational and speech therapy.  We were also introduced to our newest specialist, the Geneticist.

Our first visit with the Geneticist was scary and relieving at the same time.  He did not have any answers for us as to what Sammie’s condition was.  She was tested for a number of conditions and they all came back negative.

When Sammie was just one year old, she had her first seizure.  This is when we were introduced to another specialist, the Neurologist and all of the tests.  At this time, Sammie was diagnosed with a seizure disorder.

Sammie continued to grow and develop, though her development was much slower than the typical child.  She crawled when she was about 1 year old.  She got her first tooth at 1 1/2 years old.  She walked at about 18 months. We continued to see all of her specialists on a regular basis and genetic testing was ongoing.

Not to be forgotten – But right in the middle of all of this, our second child – Isabelle (and Sammie’s biggest fan) was born on May 15th, 2001.   She is a healthy and a beautiful girl and continues to impress us with her compassion and understanding of her big sister’s issues – though it isn’t always easy.

When Sammie was about 8 years old, we finally got some news!  A diagnosis was found and she was diagnosed with Mowat Wilson Syndrome.

Today, we are pleased to say that Sammie, although non-verbal,  is a very happy and healthy girl !!   Her only major medical issue continues to be her seizure disorder, which is controlled by daily medication.  She is a 5th grade student in the public school system and is learning to communicate with symbols and an electronic communication device.  She is also learning everyday skills through her therapies.  Cognitively, Samantha is at a 12-18 month level but that does not stop her from being the happiest 11-year old that I know!

Sammie has been participating in the Special Olympics since she was 8 years old.  She participates in Swimming, Basketball, Track & Field, and Bowling.  We hope to get her on the ski slopes next !!

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