I was wrong. I now know what is worse than hearing "I don't know". Complete radio silence.
It has now been 6 months since our trip to the NIH in July. In August they received her genetic raw data to analyze it and said it would take about a month, and from there they would send us vials for a growing list of more tests they wanted to run. The genetics team we saw when we were at the NIH was going to consult with her lead doctor and the lead doctor would then consult with Phoebe's main doctor here in NJ. While we were waiting to hear from them we were to complete any tests we could here at home, including the skeletal survey, bone age test and repeat CT, then send all the results and images down to the lead doctor at the NIH.
We have completed all the tests in NJ that we could, and I have all of the images and reports to send, but how can I send the results down when I email the lead research nurse the beginning of December and still have not gotten a response?!
We have heard nothing about the analysis of Phoebe's genetic raw data, the box of vials for further testing has not been sent to us, and Phoebe's main doctor here has not had a consult with the lead doctor at the NIH.
While I understand the size of the NIH and how vast their number of cases/people that are being researched and cared for, Phoebe is one of those cases. We applied to a program, and were chosen by the NIH because of their interest in Phoebe and her medical mystery. To hear nothing from them, to not even get responses when we call or email them....I'd rather hear "I don't know".
Which is exactly what I stated in the sternly worded email I sent today.
I can say that I did get a response to my email today. And while it did state "My apologies for having not gotten back to you in December. Please know that Phoebe's care is very important to us and we understand you are eager for Dr's input." it also said "Regarding the genetic analysis. That information hasn't been completed yet as far as I know...One month was probably a very poor estimation on my part as Dr's new research nurse. Please be assured that we will make you aware of any new information that we have as soon as possible."
I am not entirely comforted by her words. And while I am prepared to reenter the radio silence yet again, I can assure you it will only be silent because of them. I will not be silent. I will be loud. I will be ROARING. I will be emailing and calling Phoebe's team of doctors daily, researching symptoms and disorders, compiling lists of things we can test for and things we can try to help her, I will be advocating for her and others who are battling rare disease.
Rare Disease Day may officially be the last day of February every year but for my family, and others like mine, it is every day. And it's time to break the silence.