Campaign Story

Hi! My name is Erica. My boyfriend and I just welcomed the most beautiful little girl into our lives! She was born on April 22, 2022… at 3:05pm. She was born via c-section at 36+3. She weighed 4lbs 2oz and was 17 3/4 in. My pregnancy was planned and wanted so much! We found out I was pregnant September 5, 2021. It didn’t take long for the sickness to hit me and unfortunately it never did end… until she was born. My boyfriend and I had decided to each do a 23&Me DNA test. I bought the health and ancestry version of the tests for both of us. We received our results not long after we found out I was pregnant. The results were worrisome to me because they came back showing that both myself and my boyfriend were carriers of a specific mutation. We both carry a mutation for something called “D-Bifunctional Protein Defiency.” I brought up our newly discovered genetic information to my OB at my very first prenatal appointment. The OB told me she was going to refer me to talk to a genetic counselor. This never happened. I continued to express my concern regarding this situation… yet it seemed irrelevant to the doctors. My pregnancy continued and it was seemingly one issue after another. I ended up being sent out of town to see the Maternal Fetal Medicine Doctors at one of the best Children’s hospital in Western NY. I once again expressed my concerns regarding our carrier statuses. FINALLY around 31 weeks… the doctor at MFM decided to do some genetic blood work on me. She said it came back “low risk” and I felt relieved that I had finally been heard & everything was OK with my baby. Fast forward to 4-22-22… Our beautiful baby girl, Scarlett was born. She was little… but seemingly perfect in every way! As time went on… we had some trouble with feeding. Her suck/swallow reflex wasn’t very strong yet. We figured she just needed some practice… being that she was a “late-preterm” baby. Then she began having trouble maintaining her blood sugar. Two days after she was born… she was transferred to the NICU. She was doing well… until she had a seizure. That prompted her to be put on a continuous monitor to monitor her brain activity and watch for anymore seizures. She also ended up having an MRI on her brain very soon after. The results of the MRI came back and they told us she had something called Polymicrogyria (PMG). That news rattled us… but we were committed to doing whatever we had to in order to give her a beautiful life. As we tried to wrap our heads around that diagnosis… the very next day we were told that the doctors had received her new born screen blood test results. They told us that her blood work showed that she had something called “Zelweggers syndrome.” Then we were told that the survivability of this disorder is 6 to 12 months. Our world was shattered!! It turns out that our beautiful Scarlett received both copies of the mutation I was so worried about her father and I passing on to her. Unfortunately, it now seems very unsafe for us to have a baby naturally… as we are terrified of this happening again. Our next option seems to be IVF… and assisted reproduction. We will need to have our embryos genetically tested… and only have healthy embryos implanted. If you can… please help make our dreams come true… and help to heal our hearts.

Thank you!