New York Bound

So, the genetic testing Mia had came back "inconclusive". The lab was unable to process many of the tests. Our geneticist told me she wondered if it is because Mia is chronically transfused. Nothing, not even genetic testing, goes easily for sweet Mia.
Today, I received the written results for the testing. The lab report states "borderline DNA hypomethylation at DMR1, upstream of the H19 gene was detected". Now, from what I understand, loss of DNA methylation is observed in about 1/3 of patients diagnosed with Russell Silver Syndrome. Mia is "borderline". What that means is anyone's guess. Anyone, except perhaps for Dr Madeline Harbison, one of two world recognized experts in Russell Silver Syndrome. Dr Harbison, or Dr H is she is fondly known as, works out of Mt Sinai Hospital in New York City. A mere 5 hour drive from us. On Friday, Mia will be seen by Dr H. For a minimum of 4 hours. It is my hope that she can make some sense about Mia's very complicated situation. There is no other child with beta thalassemia major and Russell Silver Syndrome in the medical literature. No other person alive has both of these diagnoses simultaneously. I think Dr H is excited by the chance to take a look at Mia and get to know her. She sounds hopeful that she can help us, despite the lack of gestational age, birth weight and length, and other helpful information to have in discerning this particular diagnosis. Because Mia was adopted, and we have no information about the genetics of her birth family or of her birth itself, it has made determining diagnosis a bit challenging. As her mother, I need an answer. I need to know if my child has this syndrome. My mother's gut tells me she does, but it is difficult navigating life without confirmation. Everything, from insurance coverage for medications to school assistance requires diagnoses. There are complications which must be monitored for, if she does have this diagnosis. Mia has had enough challenges in her short life this far. She deserves an accurate diagnosis. She deserves to be seen by the leading expert in her suspected syndrome. And hopefully, after Friday, we will have more definitive answers.