In all my years, I never envisioned living life with steadfast grief. Not grieving the loss of a child. Grieving the loss of the life I saw for my child. Grieving the loss of the life I envisioned for my family. I am the firstborn...type A...the rule follower...a closet organizer. I appreciate and crave order. But grief has no playbook. And it leaves behind one hell of a mess. Denial Zella the zebra came into this world in mostly the same way as her older three siblings. There was no fanfare upon delivery, just another silently breathed prayer of thanks followed by a slew of sleepless nights and tongue-tied nursing struggles. The diagnosis that followed her arrival nearly 18 months later caught us off guard. We were determined to make the most of it, and honestly as an ... [Read More]
ADNP
Another Year of ADNP Syndrome
As we head back to school this week, I am reminded yet again of the truly amazing team of physicians, therapists, teachers, and babysitters that surround Zella daily. Thanks to their encouragement, in the last few weeks of summer Zella has hit milestones we never believed she would reach, namely walking. Simultaneously she has struggled with new self-injurious behavior, but team Z has pulled through and everyone is working hard to cooperatively manage these new challenges. Zella is loving her new preschool program at Apparo Academy. Teachers and staff have already gone above and beyond to make her feel right at home in her new space. If it takes a village to raise a child, it takes a sprawling metropolis to raise a child with ADNP syndrome. The only way to fully recognize the ... [Read More]
Father’s Day: An Ode to Jake
When the bones are good, the rest don't matter...yeah the paint could peel, the glass could shatter. Let it rain, 'cause you and I remain the same. When there ain't a crack in the foundation, baby I know any storm we're facing will blow right over while we stay put. The house don't fall when the bones are good. Although I hear people speak to the huge, sometimes insurmountable difficulties marriage can bring, I have to admit...I have very little experience on that front. And don't misunderstand me - it has virtually nothing to do with me. I happened to have married one of the most selfless humans on the planet. This is perhaps my greatest achievement. You see Jake is no ordinary pediatrician-informatician-ADNP ambassador-father of five-husband. He is the dad who has ... [Read More]
Results are in.
Helsmoortel-van der Aa syndrome. Zella has an incredibly rare genetic disorder with a CRAZY name. For now I'll refer to it as ADNP syndrome, its' other name. Here are a few characteristics of the disorder (as per OMIM)... *hypotonia*feeding problems in infancy*recurrent infections*short stature*joint laxity*hand abnormalities*congenital heart defects*seizure activity*vision problems*dysmorphic facial features*intellectual disability*sleep abnormalities*severe reflux ...and the list goes on and on. Thanks to a $22,000 test done by GeneDx, we have our answer. But only thanks to our Lord do we have the strength to continue to help Zella grow and develop into the person He made her to be. To our knowledge, this syndrome does not look to be one where she will end up regressing, although it ... [Read More]
