Meet Wynne Grace Mateffy
Our story began on December 12, 2014, when our daughter Wynne was born. We were thrilled to meet our beautiful daughter, but just three hours after her birth, we faced our first hurdle: Wynne’s blood sugar tested low and she was sent to the NICU for a mandatory 48 hour stay. Eventually everything checked out and we were sent home. We thought we had already been through the worst of it! We didn’t know yet that the battle had just begun.
The Road to Diagnosis
The first one to notice that anything was wrong was our pediatrician. Wynne wasn’t gaining weight or head control at the rate she wanted to see, so we were sent down a path of medical exams and appointments—a heart exam, an ultrasound on her spine, an ultrasound on her liver, a visit to the neurologist, twice-weekly physical therapy, weight checks every few weeks...
As each exam came back okay, we thanked God and prayed he would give strength to the families who did not have such a great result. We thought (and so did our doctors) that we had done our due diligence—every organ in Wynne’s body had been examined! We hoped that we could relax and enjoy our new life as a family of three. Unfortunately, this didn’t last for long. Wynne started having seizures at around 2 months old. We took her to the ER and were admitted immediately.
The hospital stay lasted three days and got worse with each hour. There were endless tests—EEG, EKG, MRI with general anesthesia, ultrasounds on all of her organs, urine collections, blood draws—and a revolving door of specialists. The doctors had a metabolic hypothesis right away, based on Wynne’s brain and liver showing signs of distress (via seizures and elevated enzyme levels). That’s when they told us about the spectrum of metabolic dysfunction. If she fell on the mild end, she could be treated with special diets or with enzyme supplements; her condition would be chronic but very manageable like diabetes or asthma. Even if she was at the midpoint of the spectrum, her dysfunction could be quite manageable. We prayed for this side of the spectrum. Wynne wouldn’t run marathons, but she could still go to college! A few weeks later, we went back to the hospital for what we thought was a routine feeding evaluation. However, when the doctors observed aspiration across all thicknesses of formula, Wynne was immediately admitted to the hospital and given a feeding tube.
A Catastrophic Diagnosis
On March 9, 2015, we were given the catastrophic diagnosis: Zellweger spectrum disorder. The diagnosis ranges from death in the first year to living into early adulthood with significant disabilities. There’s no test that will tell us where Wynne will land; we just have to observe her progression. There is also no treatment and no cure for the disease. All we can do is manage her symptoms. While the doctors initially thought Wynne could have a five to six year lifespan, they are now projecting months and not years. We believe she was able to see and hear at one point but we are now told there is no evidence of hearing or vision.
Wynne has an incredible medical team behind her, with experts in every field following her case. Every doctor around the world with an interest in ZSD has weighed in and given their recommendations. They have all been amazingly willing to correspond. We have also been able to cut down on frequent visits to the hospital, thanks to a home nurse who visits the house weekly. Anytime there is a crisis, they can be there within the hour.
We plan to shower her with love every day that we have her! She is a special gift to us and we wouldn't trade her for anything!
We plan to stay positive as much as possible in the face of this unimaginable diagnosis and make sure that some good things come out of this. Wynne is still the best thing that has ever happened to us and we would like her positive impact to extend to many more people.