Many people have asked where things stand with Daisy’s testing so I wanted to share a status update.
Daisy had a skin biopsy three weeks ago where a dermatologist removed a small section of skin from the back of her arm (technically called a “punch” biopsy because they use a tool kind of like a hole punch - yuck). The purpose of removing this bit of skin is to isolate fibroblasts within skin cells which can then be cultured and tested. The skin fibroblasts were grown at Children’s Hospital of Philadelphia and will be transferred this week to the Lysosomal Storage Disorder Laboratory at Jefferson University Hospital, also here in Philadelphia.
At the lab, Daisy’s skin culture will be tested for a number of lysosomal storage diseases - a group of 50+ rare metabolic disorders that result from defects in lysosomal function. Essentially, these are inherited disorders that affect the way cells process and recycle enzymes and protein - critical processes for the human body. These disorders mostly affect children and often cause early death.
Doctors feel Daisy’s isolated fetal ascites could have been caused by one of these disorders. In particular, they have seen some symptoms that are leading them to look specifically at the following diseases (I've included links to further information about each should you be interested - disclaimer: they are all pretty scary):
Niemann Pick Type C
MPS Type Four A
Congenital Disorders of Glycosylation
We hope to have more answers soon. It has been difficult to coordinate all of the post-NICU care. We are working with Nemours Dupont for Daisy's pediatric care but some of the metabolic experts are at Children's Hospital of Philly and some of the testing is done at Jefferson Hospital. There are a lot of moving parts and a lot of administrative work required on our end to make sure all of the specialists are communicating and information is streaming to where it needs to go.
While we believe Daisy loves being at home and she seems to thrive here, I am noticing that she cannot "see" us and has difficulty "tracking" with her eyes. She does not have great control over her eye movement and is still not really able to support her head - it flops from side to side constantly throughout the day. I have to often remind myself that while Daisy came into the world over two months ago now, she was supposed to be born June 10 - which would make her just over ten days old now. So maybe much of this is just regular "baby stuff."
As you might imagine, we are really, really anxious for answers. We have been trying to understand Daisy's medical condition and get a picture of her future since the ascites was detected in March. Four months later, doctors still don't know what caused her to fill with fluid or why she experiences difficulty breathing and feeding, why her tone is low or why her EEG and MRI results are not normal. It is hard to be told over and over and over that things are not "normal" when no one seems to know why. We have researched every disorder inside and out, we've asked every question we can think of, we have pressed the doctors and nurses and specialists to do more, but we have to be patient and accept that we may never have a full picture of what Daisy's future will look like. We may just have to let it unfold and allow our faith and hope to guide us...