Our son, Lennon, was the happiest surprise of our lives. He is infectious, lovable, and unique. But his life has been anything but typical; he’s not even three and has faced many challenges.
My pregnancy was closely monitored since I’m a type one diabetic. When I was 28 weeks pregnant, the doctors discovered something abnormal during a fetal echocardiogram. Our doctors confirmed he had pulmonary valve stenosis with dysplastic ventricular septal defect (VSD). This meant that Lennon had a couple small holes in his heart, and the chambers of his heart weren’t properly formed.
Lennon was born at 38 weeks and 2 days in 2018. Instantly, we noticed a few things were different. He had extra folds of skin around his ears and neck, his eyes were slightly spaced out, he had a wide nose and undescended testes. He also had intestinal malrotation (also known as twisted intestine), feeding issues, and sleep problems. We met with a genetics team who tested him for a couple genetic syndromes. The tests came back negative, and the team saw no reason for additional tests. When he was stable enough, we were able to take him home. We left feeling hopeful.
The feeling of hope was short-lived. We noticed Lennon wasn’t hitting his milestones. His vision wasn’t progressing, and he was struggling to gain weight. When he was 5 months old, his right arm would dangle next to him and go cold. Around this time, our doctor also diagnosed him with several eye problems – and referred Lennon to physical, occupational, and speech therapy. Our doctor listened to our concerns and helped us get more genetic testing for Lennon. We knew something was wrong.
When we got the genetic testing information package, tiny writing on the last page said, “potential diagnosis Mowat-Wilson Syndrome.” Naturally, I HAD to google it. The list of “problems” was long and intimidating. Mowat-Wilson Syndrome is caused by an abnormality in the gene called ZEB2. It can result in abnormal facial features, developmental delays, heart defects, visual impairment, hearing impairment, and seizures. I remember inspecting Lennon in bed that night, thinking, could this be our answer?
The genetic testing results took 3 months to get back. After 2.5 years of begging for an answer, the results confirmed Lennon had Mowat-Wilson syndrome. It took one 35-minute appointment to crush all the dreams we had for our little boy. But good came from the appointment as well.
We were told the mutation causing the syndrome was a de novo mutation – meaning my husband and I didn’t give him this syndrome. I could finally stop blaming myself and my diabetes for Lennon’s problems. We could have more children that would likely not have the syndrome. This wasn’t us.
As we digested the news, we felt at peace. We wouldn’t change anything about Lennon. He had taught us more in his 2.5 years of life than I learned in the 23 years before he came. He is our entire world, and we can’t wait to see him continue to shine. We hope to have more children and plan to raise them to be kind and emphatic to others.
Currently, what we struggle with the most is information and education about Mowat-Wilson Syndrome. None of our doctors had ever heard of it. No one in our community has had a child with this syndrome. Lennon has gone through so many tests and procedures. It is even more frustrating to realize how much he endured before we even had a diagnosis. We vow to learn more about rare diseases and to advocate for our son.
Learn more about Mowat-Wilson Syndrome