MWS Family of the Month – Maci’s Story
By Karissa (Maci’s mom)
Our journey began in 2015, when my husband and I found out we were expecting our second child. She was longed for and already loved from the very first moment! Our 2-year-old son, Jake, was so excited to become a big brother!
Early, non-invasive genetic screening told us in the 1st trimester that our baby was at very low risk of having a genetic abnormality, and that we’d be having a little girl this time around! I started buying all the outfits and headbands then!
At our 20-week anatomy scan, my OB told me that she couldn’t visualize all of the baby’s heart, but this was possibly due to positioning or limitations of the technology. We were referred to Maternal Fetal Medicine for a level II ultrasound the next week. At this appointment, we were told that our baby girl, Maci, appeared to have Hypoplastic Left Heart Syndrome—essentially, half a heart, along with two other more minor cardiac defects. They told us that everything else appeared healthy on ultrasound. The doctor suggested an amniocentesis to check for the more common genetic syndromes associated with this heart defect. This would help us be more prepared for her birth. The amino later came back clear. It was believed, based on multiple in-depth scans and genetic testing throughout the pregnancy, that Maci was otherwise healthy.
My pregnancy progressed mostly without issue, with the exception of some mild preeclampsia around the 7 month mark. At a check up at 37 weeks and 5 days, it was determined that the right side of Maci’s heart (her “good” side) was starting to enlarge, and she had stopped growing. My amniotic fluid was also low, and the preeclampsia was slightly worse. They decided she was “better out than in,” as she probably needed intervention for her heart before her health became any worse in-utero. I was induced, and on April 14th, 2016 at 1:59am, a 6lb 6oz Maci came into this world! She was beautiful, and thankfully, let out a big cry for us, which helped us feel like we had a determined little girl on our hands!
As a nurse, one of the first things I noticed after her birth, other than Maci’s beauty and her blueness, was some unique facial characteristics. I told my husband that I thought she had a genetic syndrome, and once she was stabilized at the Children’s hospital, I requested a consult for a geneticist.
As various medical testing was done on day one, we learned even more. Maci’s kidney function was not great and an ultrasound of her brain showed abnormal vasculature. Her first echo post-birth confused the doctors. Her cardiac anatomy looked different than they anticipated. An MRI was done to clarify what the echo showed, and this told us that her health was much worse than we thought. She did have HLHS, but she also had more. She was diagnosed with Double Outlet Right Ventricle, a dysplastic tricuspid valve causing severe tricuspid regurgitation, a left pulmonary artery sling causing tracheomalacia, several VSDs, and Partial Anomolous Pulmonary Venous Return. At that time, I knew my daughter no longer had an isolated case of a heart defect, but most likely a genetic syndrome causing this constellation of health issues for our precious baby girl. She’d have so many more obstacles than I imagined, and my heart broke for her, again. And, what else were we missing?
Next, a team assembled in our CVICU bay, and explained with a PowerPoint, just how complex our daughter was, and that they did not think surgery was a good, or humane option. There were some cardiac defects that could not be operated on, and they believed that if they tried to intervene on any of the other defects, that Maci would not survive—or if she did, would never come off of life support. We were faced with devastating decisions to make—none of them what we wanted for our baby girl. We chose to take our baby girl home on hospice, at just one day old. We planned to love on her, hold her, kiss her little cheeks, and let her drink milk if she desired to do so. We were told she would probably pass in the next few days and we were given morphine and ativan to ease her transition from this world.
But Maci survived. In between some scary moments, she continued to wake, and be very alert, she breastfed, and continued to do things that newborns do.
Our journey took another unexpected turn when our pediatrician called me personally and asked if he could contact a surgeon at Boston Children’s Hospital, who he thought might be able to help.
The surgeon called me later that day, and was optimistic. We immediately traveled 15 hours to their ER, and Maci had open heart surgery at almost a month old. It was an experimental type of tricuspid valve repair, on top of other extensive repairs, and she recovered surprisingly well.
In the coming months though, issues periodically popped up.
Maci started having GI bleeding, apparent discomfort, and repeated vomiting with breastmilk, and then the same with almost every kind of formula we tried. She also struggled tremendously to have bowel movements and was diagnosed with chronic constipation. She required IV nutrition for several months while we tried to get her gut to heal and find something she could tolerate nutritionally. She later tested negative for Hirschsprung’s.
We realized Maci wasn’t tracking objects well and she was thought to possibly be blind. She also had strabismus.
At 4 months old, she was diagnosed with Pulmonary Vein Stenosis…another diagnosis with a high mortality rate.
After two UTI’s, she was diagnosed with a duplex kidney and VUR as well.
She had a lot of medical and health setbacks. I felt like something else knocked her down every time we got the last issue under control. But through it all, she was such a joyful and loving little girl. Her body was broken, but her spirit was not. She radiated joy!
When life slowed down medically, we were able to focus more on what syndrome might be causing all of this. We made several trips to two different geneticists, and had several tests run for possible syndromes, but all came back negative. I posted on the page that I updated for Maci, explaining how we were searching for a cause, but were coming up short. We welcomed any suggestions.
When Maci was about 10 months old, a mother messaged me on Facebook, saying that Maci looked so much like her son, who has Mowat-Wilson Syndrome.
I looked up MWS and the pictures that filled my screen looked like siblings to my girl! I knew this was the answer! I will forever be grateful for this mother who reached out.
Four days after her first birthday, Maci officially got her diagnosis of Mowat Wilson Syndrome.
Having her diagnosis helped us to know what to look into, and helped us connect with other parents who could give us so much advice and support. It was like we had an instruction manual with ideas of what each issue could be instead of searching blindly. We could better help Maci now. What a blessing!
Maci continued to develop into a beautiful, loving, and determined child. Her vision improved eventually and she was diagnosed as having delayed visual maturation. We found a highly broken-down formula she could tolerate (although never figured out why she couldn’t advance her diet any further). She became pretty stable cardiac-wise. She started signing at 10 months old and progressed to using hundreds of signs, started saying words at 12 months, and walked independently at 21 months. She went on to become verbal and was very good at communicating her wants and needs. She even began to read and write, and did so well with pre-school. She was all ready for kindergarten! We had some beautiful, and fairly stable years with her.
Maci had a deep bond with her family. She stayed busy with her older brother (who spoiled her rotten and gave her everything she ever wanted). She became a big sister to Everly, and quickly became her best friend. She was mommy’s shadow and best cuddle buddy. She was daddy’s music buddy—having hours-long rock out sessions where they sang with all their hearts to their favorite music. She was very close with her grandparents, aunts, uncles, and cousins.
Maci thrived for 5 years, but went into heart failure and had no surgical options left after her three open heart surgeries. She developed high lung pressure, Pseudotumor Cerebri, and liver and kidney failure. She lived to be 5 years, 5 months, and 5 days old.
We were devastated at losing our sweet girl and we miss Maci more than we can put into words.
We hope people always remember her loving, silly little self and how awesome of a human she was! It felt like she was an angel on earth—so pure. We will forever be thankful for the MWS community and will always be advocates for other MWS individuals and families.
Released March 3, 2023