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.
A Mother's love note
A Mother's love note
Wynne is pure love. She can’t see or hear, won’t graduate from college* or run a marathon but she is our greatest gift. This is hard to comprehend, especially as young parents, whose children are supposed to outlive them; to go on to develop and thrive.
While meeting with one expert in Wynne’s disorder early on, he encouraged us not to keep her in a bubble. We took this advice to heart and took on the impossible task of living a lifetime in whatever time we have with her. Her ‘baby bucket list’ quickly took shape and allowed all of us to keep living & exposing her to our favorite things during this difficult time - helping us to create memories we'll have forever. As another Mom of a child diagnosed with Zellweger syndrome said, "this doesn’t need to be a really sad story", for us nothing could be truer but we didn’t know it right away.
When we had our hellish ‘seizure’ weekend explained above, I asked our Doctors if she would ever smile. They said they weren’t sure. This was something I completely took for granted before all of this. When we came home from the hospital, exhausted and defeated, I will never forget when her mouth curled into that first exuberant smile. First the left side, then the right, taking real concentration. It lasted for what felt like an hour & I believe she was telling us she is OK. Her smiles come and go now, but we have HAD them and savor every one she shares. She has given us new purpose and a reframing of our perspective on life. I know more about what is important (the simplest things) and what the ‘present’ means. I live in it wholeheartedly with her every day - squeezing everything we can out of each moment.
Wynne doesn’t have any muscle control, she can’t roll, push up, hold her head up or sit without support. But we are lucky that she loves to be touched, cuddled, held and makes the sweetest sounds to show us she’s happy. She loves water and splashes her legs and arms around in a warm bath. She makes the most blissful sleeping sounds and she likes it when we blow in her hair and kiss her nose. I love to kiss her on the lips (given her susceptibility to infection I am careful about this) but it is a gift to myself and to her that I am not willing to relinquish. She always seems to respond and know it’s her Mom.
She is beautiful with a head of thick brown curls, buttery soft skin, long brown eyelashes, sparkling blue eyes, button nose and raspberry lips. She’s also incredibly tall and statuesque (99th percentile in height)! To me she is magic. My angel. Who would have thought my greatest gift and teacher could be someone who cannot see, speak or hear? I know her light will shine on in us and those who have been touched by her and her story, long after she is gone. If we are blessed with more children, I think I will be a better Mom and I am a different person – a better person – because of Wynne.
Truthfully, there are also been incredible amounts of tears in the last year. I have felt anger and unfairness to my core. I hate this disorder and that it will take my sweet beauty from me. If there was anything I could do to change Wynne's fate I would do it in a heartbeat. I've never felt so helpless. It's a heavy weight to carry. No parent should have to hear that their child has a terminal illness and there isn’t anything they can do about it.
I think of all the parents who have heard these terrible words about their children before us...they have given us the strength to face each day since we've learned of Wynne's diagnosis. Loving their babies with everything they have through this pain. I sincerely hope together we can work toward others never being faced with this. We are committed to helping solve this terrible disorder - to spread her sparkle.
This isn’t the path we envisioned when we found out we were expecting, but we love our little girl and will continue to shower her with love and care to the best of our ability. Now and forever our days are better because of her. Thank you my dear sweet baby Wynne. You have given us immeasurable amounts of love, blessings and happiness. All I want is to hold you forever but I know someday you'll live even closer...in my heart.
Love you schmoopie face.
*Wynne has received an honorary degree of recognition from our alma mater The University of Wisconsin-Madison from the School of Medicine and Public Health. She now likes us to call her Dr.Wynne, Medicine Woman.