What is Mowat-Wilson Syndrome
A Merrimack family is rallying behind a daughter diagnosed with Mowat-Wilson Syndrome
When a child is diagnosed with a long-term, chronic illness or syndrome, what happens to the family and where do parents turn for support? In the case of the Leo family of Merrimack, the family became even closer and the parents, Debbie and Mark, turned to each other when the answers were few and far between. They also credit their 14-year old daughter Samantha’s doctors and the medical community as a whole for helping them transition from what they once thought might be to what life really was and would be.
The Leos’ need for support and better understanding of what was to come began long before their daughter was finally diagnosed with Mowat-Wilson Syndrome, a rare multiple congenital anomaly syndrome, which is characterized by a distinct facial phenotype consisting of a high forehead, frontal bossing, large eyebrows, deep-set but large eyes, large and uplifted ear lobes, a saddle nose with prominent rounded nasal tip, a prominent but narrow and triangular pointed chin among other characteristics; moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations, congenital heart defects and more.
Born a healthy 8 pounds, 14 ounces, Samantha demonstrated all signs of being a healthy newborn. Shortly after her birth, hospital staff at Southern New Hampshire Medical Center noticed she was very puffy and swollen for a newborn and ran some tests, none of which indicated anything other than she had retained some fluid. By the next morning, her condition had worsened and she was transported to Children’s Hospital at Dartmouth (CHaD) for intensive/emergency care. Medical personnel felt that Samantha had somehow developed excessive fluid retention while in the womb, which put pressure on her lungs and heart.
After a multi-day stay, much testing and consultations with a neonatologist, pediatric cardiologist, pediatric pulmonologist, the Neonatal Intensive Care Coordinator and social workers, the Leos learned that what had transpired was not the result of anything either of them had done prior to or during Samantha’s birth and that there was nothing significant to report. She was transferred back to Southern New Hampshire Medical Center just three days later and then home two days more after that with a clean bill of health.
After this initial blip with their daughter’s health, life was good and the Leos embraced their little girl and their new life together with delight. Eventually though, the couple sensed something was wrong. Samantha did not reach anticipated milestones and was delayed in many areas. At a year old, she had her first seizure. Days were filled with trips to cardiologists, neurologists, ophthalmologists, otolaryngologists and the geneticist. Samantha was tested for any number of conditions and one by one, each result was negative. Early intervention was begun consisting of physical, speech and occupational therapy, but still the Leos had no real diagnosis for their daughter.
“It was a lonely journey in the beginning,” said Debbie Leo, an administrative assistant for Marguerite’s Place, Inc. in Nashua. “I think we lived in our own little world for a while, maybe the first four years, and we really didn’t know where to turn or understand what the implications of her condition were.”
The Leos ran on autopilot for a while, and just did what they had to do without thinking about the long term.
“We were also in denial, hoping that one day Samantha would ‘grow out’ of her conditions and that someday, she would be just like other kids,” said Mark Leo, a provider network manager with Health Net Federal Services (TRICARE). “Once we came to accept the fact that Samantha was always going to be different, it opened our minds and hearts to be ready for the challenges we would face, even though we had no idea what they would be.”
They joined a couple of support groups but found they were not a good fit and relied heavily instead on Samantha’s doctors, who provided insight and guidance when they needed it.
“Even to this day, they have been of great comfort and remain steadfast supporters of what we have chosen for Samantha,” said Mark.
When the diagnosis was finally made for MWS nearly eight years later, there were only about 70 other people in the world that had been identified with the syndrome, which had just been discovered in 1998. Searching the Internet for additional information, the Leos could only find medical jargon, much of which they did not understand.
“The only thing we saw from the articles was that our daughter looked just like those other children,” said Debbie. “Our geneticist gave us the name of a website for MWS families and we started our new relationship with this small group. We shared our story and were welcomed by everyone.”
Social media has played a big role in allowing the Leos to meet other families. There are three MWS groups set up at present and they belong to each, making many friends.
“Mark and I have been very lucky to meet four other MWS angels and their families,” said Debbie. “Most people have one, if that, other MWS family near them so to have five families so close is just amazing. Having this support from other parents going through the same things we are is great. We no longer can say we are alone.”
Although Samantha is older than most of the other MWS children they have met, the Leos are relieved to have a place to turn to for advice or guidance. Just being able to share an experience, good or bad, makes them less scared of the road ahead. They also are glad to be able to give advice to parents just beginning their journey.
A second daughter was born to the Leos in 2001, their youngest daughter, 10-year old Isabelle, who has taken life with her older sister Samantha in stride.
“We both believe we did a good job at balancing our time and attention between the two girls,” said Debbie. “Even with all the attention that Samantha has needed, Isabelle rarely complained. I don’t think she understood it 100 percent, but she rolled with it.”
The couple recently struggled with the decision to allow Samantha to become a residential student at Crotched Mountain School, where she had previously commuted daily, so she could receive one-to-one support continuously and truly expand her opportunities and skills.
“As a parent, you always want the best for your child. All parents do,” said Debbie. “Trust yourself. Trust your instincts. Trust your gut. People will try to give you advice but unless they have walked in your shoes, they have no idea what your life is like. Sometimes it will be hard, but the end result could be wonderful.”
For Samantha Leo, that tough decision made by her parents was one that led to many good things. She is now more socially involved, has more patience and has learned to feed herself with minimal assistance.
The family has involved Samantha, who is non-verbal, in every facet of their life from camping to skiing, and she recently enjoyed her first prom at Crotched Mountain School. For Mark Leo, the opportunity to dance with his eldest daughter at her prom was an awesome experience he won’t soon forget. In spite of the challenges the family has endured throughout Samantha’s childhood thus far, they have faced them together and had a great deal of fun together as well.
“We have always been a strong team,” said Debbie. “The areas that I struggle in, he is strong and vice versa. I think we are able to stay strong because we have the same ideals and we both know what to expect from each other. When it came to parenting Samantha, we did not have any book or guide we could read and our family and friends did not have experience with the things we were going through. So we wrote our own book and we always did what we thought was best for Samantha.”
Pamme Boutselis is a marketing/communications consultant and writer. The mom of four grown kids, she blogs about their experiences as a family in "Along the Way." Follow her blog at http://alongthewaypammeb.blogspot.com or on Twitter @pammeb.