Update on Poppie

Last night was the hardest night of our lives.

We received a call from the Pediatrician to let us know that Poppie's lab results came back and based upon her enzymatic activity she had Classical Galactosemia. We were devastated. A lifetime of strict dietary changes, developmental delays, speech delays, sterility in females, learning disorders and other physical and health issues was in our future. We stayed up until 2 am alternating doing research with staring at our gorgeous little girl and crying. We made plans on which small private school we would send her to (to avoid school lunches which could kill her and give her the extra support for any learning or other delays), what our traveling life would look like (difficult) and where we would live to give her the best life possible. We made some difficult calls to my parents and waited with heavy hearts to let Nick's parents know in the morning. I emailed our doula to let her know that I had 2 gallons of frozen breastmilk to donate and asked about how to best wean (I am hyperlactating, wouldn't you know, which makes weaning very, very difficult and painful).

And then a miracle.

The phone rang at 8 this morning and it was our Pediatrician with great news. Because this is such a rare condition, once she was flagged as abnormal, all the genetic research docs immediately started testing her blood and following her results. There has been a bunch of email chains about Poppie going on behind the Pediatrician's back. And this morning, the Geneticist call our Pediatrician to let him know that the genetic results came back on Poppie and she has a variant called Duarte's variant, which is typified by one abnormal major mutation and one minor mutation on the chromosome. It also indicates a normal life, ability to breastfeed and complete disappearance of any sensitivities by childhood. Poppie should be able to have children and lead a very normal life.

The blood results which the Pediatrician was reading do indicate galactosemia, but full diagnosis must be accompanied by genetic results, which we (doctor and us) didn't realize. A Duarte variant child can have fluctuating enzyme activity, but it is the genes that tell us what her life will look like and what those enzyme levels are capable of doing to her body.

Needless to say, we have been on a wild roller-coaster ride, but we would do it over and over and over again if this was the final results.

Thank you for all of your love, support and prayers. This child is blessed in so many ways, but most of all to have such an amazing tribe of people who will forever be there for her.

xoxo