Mia’s Story

Everyone’s journey begins differently. For us it started with these amazing deep dark brown eyes looking up at me from a completely soft, mushy and doll like body; in medical terms she was floppy. Our pediatrician told us to hold on till her three month exam. That most likely she was just catching up from her rough start. Fast forward three months. My dark eyed, dark haired little mama is now three and a half months old and she is just as floppy and now we notice that she is drooling with breast feeding and exhausted after every feed. Although she is gaining weight, it’s “not within the normal range” her pediatrician seemed concerned and off we went with prescriptions and referrals in hand, like visas and passports to another place.

I didn’t know at that time that “not within normal range” would become our entrance stamp. In the eight years since that visit we have seen countless doctors, of more specialties than I could ever have dreamed of when we started this process and although all of our journeys are different, I feel there is a connecting thread between all of us. That moment of sudden knowledge; Whole Exome sequencing – SETBP1 heterozygous, De Novo, likely pathogenic. That phrase, like Emily Perl Kingsley so eloquently wrote, this was our first glance at Holland. The place where all of our journeys converge. For us the journey to diagnosis took 6 years and many setbacks. We had insurance coverage issues at first, then we had issues with what genetic testing they would cover. Finally we had checked all the boxes and the day came when it was happening. My husband, myself, Mia and our oldest Emma, getting our cheeks swabbed and the swabs being sent off. It was anticlimactic but in those tiny vials was the hope we had been waiting for and so we waited for 4 months until the answer came.

Two years later, here I sit, watching that same little lady with the big dark eyes and dark hair from over the monitor of my computer and with a diagnosis, closer to answers but with so

many more questions. The thread is what binds us but not where the journeys end. For some of us it is a starting point. For others of us it is the answer to what our heart knew and could describe but had no name. Yet for others of us we are somewhere in between. Still “not within normal range” but with a deeper understanding of what that means for our little ones individually and collectively. For our family, it has been a blessing to find a community where our journey can have a voice and where our voice can have an impact even if it’s a whisper now.
– Miriam