MWS Family of the Month – Harper’s Story

By Harper’s mom

Our daughter, Harper, is a perfect 7-year-old kid. She is happy, hilarious, smart, hardworking, kind, and stubborn. She loves her sister and tolerates our dog, she LOVES her friends and Roblox, and she has Mowat-Wilson Syndrome.

My husband, Adam, and I were so excited to get married and start our family in 2013. When we found out in 2015 that we were expecting our first child, we had all the overwhelming joy, fear, and hope that all expectant parents experience. My pregnancy seemed typical. The 20-week anatomy scan was normal, and, as far as we knew, we were to have a healthy, typical baby.

Harper came into the world in a blaze of glory. After 22 hours of grueling labor followed by an emergency C-section, she needed some assistance to start breathing. I think part of me knew from the beginning that she was different – she looked a bit different (striking really) and seemed to behave a little differently than other newborns. Our pediatrician also noticed her unique facial features, but there was never enough reason for concern.

Soon, we started noticing that she was missing her milestones. That’s when our diagnosis journey began – nearly six years of endless doctor appointments, countless therapists, hours spent figuring out the medical system and how to pay for it, tears, glimmers of hope, repeated assurances that it was “just a delay, be patient,” a lingering gut feeling that there was more to learn about Harper, and many, many sleepless nights.

When she didn’t start walking on time, we were told that she would need orthotics and physical therapy. Then, we noticed that she wasn’t talking much and if she had words, she would suddenly lose them. We started speech therapy multiple times a week. Not long after she started speech therapy, we added occupational therapy because we were told it often goes hand in hand with speech, but that, “she would get there and catch up.” So, we marched on, but something in me wouldn’t stop screaming, “something is wrong! These doctors are not understanding that she is different.”

We pushed for a sedated hearing test and an MRI – both came back normal. I cried with therapists, begging them to help me understand what was going on with our sweet daughter who wasn’t making any progress. With perseverance, we were referred to a genetics doctor at Children’s Hospital of Philadelphia (CHOP). Her distinct facial features, paired with her developmental delays, were enough for our pediatrician to refer us to genetics. After a full physical exam, the doctor ordered a chromosomal micro-array. Guess what – it came back normal. Back to square one.

We marched on with therapy and made one final plea to our neurologist to help us get one more genetic test (a full exome sequence). She agreed and ordered the test. It took extra advocacy by us and the doctor to get the full exome sequence approved, and ultimately the hospital agreed to cover the cost of a private company to run the test. Another round of blood work for Harper, myself, and my husband, and then we waited. In the meantime, after years on a waitlist, we saw a developmental pediatrician, who seemed certain that it was autism.

Finally, a genetics counselor called and said, “Mrs. Batchelor- we received the results of your daughter’s exome sequence, and she has autosomal dominant genetic disorder caused by a mutation in the gene called ZEB2. This mutation leads to either loss of function or decreased function of this gene.” “I’m sorry – can you repeat that?” I said. “Mrs. Batchelor,” she continued, “Harper has a rare genetic disorder called Mowat Wilson Syndrome. Can you and your husband come into the office on Monday? And don’t Google it.”

I felt like I was in a car crash. The whole world disappeared for a moment.

From that minute forward- our entire world changed. We had our long-awaited answer after more than five grueling years watching our baby endure endless testing, working her little butt off in therapy, and schlepping her baby sister from appointment to appointment. It was clear – our perfect little girl has a rare disease. A disease so rare that at the time less than 300 cases were reported in the entire world. The genetics doctor told us that Monday that he was aware of MWS and considered it when he ran the initial test years before, but that she just didn’t seem to have the same disabilities that others with MWS have.

What we didn’t realize is that this was just the beginning. Many more appointments, specialists and testing were going to be part of our immediate future. Since MWS can affect so many different parts

of the body, I worked with the team at CHOP to schedule visits with cardiology, neurology, ophthalmology, gastroenterology, orthopedics, immunology, neuropsychology, and audiology. We have learned that Harper’s version of MWS does not include some of the physical conditions that others face. MWS’s impact on her is primarily intellectual and speech-related.

We also learned that the need for advocacy was just beginning. Most doctors we visited knew nothing about MWS and hadn’t taken the time to read even the limited available information. After educating her neurologist on the increased risk of seizures, we had a one-hour EEG done, which came back normal. I said, “Nope- we’ll take the overnight EEG.” After some back and forth and the reassurance of the neurologist that everything seemed fine, she finally agreed to an overnight EEG. The results showed that Harper had three seizures in her sleep within the span of 6 minutes. We immediately began Keppra to help keep the seizures at bay, and continued the intensive OT, PT, and speech therapy in and outside of school. In the last month, Harper received a diagnosis of intellectual disability, but only after receiving several “inconclusive” test results. Again, Harper is unique even among the rare disease community. She doesn’t quite fit the mold. We choose to see this as the mystery of her potential – we simply don’t know what Harper’s future holds and we won’t know until she shows us.

Despite a lot of limitations, Harper can walk, run, ride a bike with training wheels, swim, dance, make friends, and play video games. Despite a lot of limitations, Harper can do anything.

She is breaking down barriers and continues to work unbelievably hard. She has taught and continues to teach us and her 5-year-old little sister, Hope, the true meaning of happiness, acceptance, patience, resilience, bravery, compassion, empathy, and the beauty in the unique abilities that all human beings possess.

When Harper was born and when she wasn’t meeting milestones, we were completely overcome with fear for her future. Today, we are constantly overwhelmed with pride in where she is now and where we know she can go tomorrow.

Released April 8, 2023