More news on Poppie

Both of our babies are sleeping right now, so I have a minute to catch my breath and catch up with all that has happened in the past week. We had another pediatrician appointment this morning and had a long conversation with our geneticist who has been monitoring Poppie's results since they came back abnormal and for the first time in days, I feel like we can sigh a collective sigh of relief.

Poppie indeed is Duarte variant galactosemic, which is just a few enzymes shy of normal. She should have no lasting side effects of her condition, but may have a slight intolerance to lots of lactose (no ice-cream sundae birthday parties, at the worst). Her genotype is D/G, which means that Nick and I are both carriers of galactosemia, but we will need further testing to see if we can ever produce a classical galactosemic child (typified by G/G genotype who produces no enzymes and has the worst effects of the condition). Finn is either normal (N/N) or a carrier of the condition (N/D or N/G).

The numbers that gave the Pediatrician enough alarm to call us on Friday with the news that she was classical galactosemic are out of the normal range and look scary on paper. But, with further clarification from the geneticist, Poppie has roughly 20% enzymatic activity, which is enough to process the amount of lactose that a normal adult consumes. As a young baby, while she is eating 100% breastmilk, her levels will be a little on the high end, but once she starts solids, those figures will go down. However, if she can't handle the milk well (doesn't thrive, loses weight or shows other side effects) then we will go onto a partial-soy formula diet until we reach the solid food stage. Which isn't as bad as it could be.

Tomorrow, we are meeting with the metabolic geneticist physician, who is the leading researcher in metabolic disorders in the US. He will examine Poppie, answer all of our questions (of which we have many) and test us for the genotypes we carry so we can make a decision about future children. But all, in all, today feels hopeful.

I also just want to thank everyone for their thoughts, prayers and meditations on Poppie's health. I also want to sincerely thank our doctor and doctor-to-be friends who have called, stopped by and offered support, advice and a general calm to what was a very scary situation for us. Our 'tribe' is magnificent and we are so, so blessed to be a part of this extended network of amazing, loving, talented and supportive human beings.

xoxo