We welcomed Haven Mae into this world on  October 14th, 2024. She is our fourth child and everything from those first few days were normal and similar to the births of our other children. We left the hospital three days later, but received a terrifying phone call at home the following morning from the state. They asked if our baby was breathing and conscious but would not tell us anything going on. We had a regular visit with the pediatrician already scheduled so we went straight to their office. The doctor evaluated Haven and said she looked well, when the hospital then called and asked us to come to them (2 hours away). We asked the pediatrician what was going on but all he said was that he was asked to see if she had signs of acidosis or hyper ammonia. We then got to the hospital where they confirmed she was stable but did take more bloodwork to narrow down her diagnosis since she set off 3 of the newborn screenings; propionic acidemia, methylmalonic acidemia, and cobalamin disorder. Although her c3 was very high, everything else in her new bloodwork was relatively normal. In disbelief, I also asked for genetic testing which came back showing she has two VUS mutations. We also got enzyme testing done for her. Learning and navigating such a complex and devastating diagnosis so rapidly and unexpectedly was one of the hardest parts in those early days.

Haven is now 21 months old and doing great. She is a happy toddler who loves to play with her siblings. She is on a restricted diet that we are still  adjusting to, as well as expanding for her. The trickiest part is navigating the toddler stage in relation to food while she tries to exercise control and independence. She loves movies, dancing and singing songs. Her favorite thing to do is collect the eggs from our chicken coop every morning and get slobbery kisses from our dog. She tries to keep up with her big brothers outside, and loves playing with baby dolls and coloring with her sister. She has a big personality already and her siblings adore and encourage it. My hope for Haven is that we properly navigate this and find the best balanced diet for her that she can not only enjoy but that will nourish and protect her. I pray for wisdom and guidance over all of the  medical professionals treating Haven and all of our sweet babies, that their treatment plans preserve and protect their little minds and bodies as best we can so they may live the beautiful and joyful lives they deserve.