I have repeatedly reached out to the Nurse Researcher assigned to Phoebe's case, hoping to hear even the smallest amount of news. But each email and phone call went unreturned. The frustration and helplessness of feeling like there is nothing you can do for your child is only worsened by not being able to get ahold of the highly specialized research team who is supposed to be helping you help your child. I do know that Phoebe is not the only patient of her lead NIH doctor and I do know that the NIH is very busy. But to not hear anything, at all, for two years....is not right. A point I made in each of my emails.
I had all but given up hope of ever hearing anything when I received an email from the very first contact I had at the NIH, a Senior Nurse Consultant, requesting a phone call. It had been over two years since I had first spoken to her, but I remembered her well. The same dedication, drive and passion she had expressed in helping Phoebe when we first learned we were accepted into the Undiagnosed Program was still present.
She was disappointed with the lack of communication I had received, especially with knowing how many unanswered emails and phone calls I had made. She recognized that even if the NIH had no new information for me, the Nurse Researcher should have been reaching out to me so they could get any new information I had. Since it had been two years, that would mean I have two years of medical records that the NIH didn't. That those two years contain important information that they need, because even if the doctors and specialists in NJ couldn't make sense of what the results mean, the NIH could use it in the giant puzzle they are constructing.
Her disappointment was also the driving force in her decision that she would be my main contact with the NIH from now on. She also emphasized that if I ever go a couple of weeks without hearing from her, I should email her or call her to get a status update. While I was happy to have a new contact that was driven and dedicated to helping us find answers for Phoebe, I wasn't sure what status update I would be looking for. Her response renewed my hope in being able to one day find an answer, a diagnosis.
She explained they wanted to enroll Phoebe in a WES research study. WES stands for whole exome sequencing. What this entails is sending Phoebe's, mine and her father's blood off so our entire exomes can be sequenced. (sequencing would take three months to complete) After sequencing is complete, the NIH would receive the results and begin to analyze them. (analysis would take a couple of weeks to a month) The hope is the whole exome sequencing would allow the NIH to identify what genes are the cause of Phoebe's medical issues.
But there is no guarantee that if they identify genes that are faulty that they will know 1)what they are, 2)how they contribute to Phoebe's medical issues, 3)a definitive diagnosis or 4)how to treat her.
Because there is a chance the results of the sequencing can leave us, well anyone who participates, with more unknowns than answers the results the NIH receives are assigned an identification number and entered into a global research database along with accompanying symptoms. (only the researcher entering the information in the database would know Phoebe's identifying information). By doing this, researchers around the world would have access to clinical information of everyone in this database. The hope of this database is that if one researcher is unable to identify a disease or possible treatment, another researcher might hold the answers, or at very least some new ideas.
The NIH sends out blood for WES once a month in a batch. Phoebe's and my blood is still at the NIH so as soon as the paperwork for the research study is signed they hope to get our samples sent out with the next batch. (hoping for April, May at the latest). Phoebe's father was unable to make the trip with us to the NIH two years ago, so they are arranging for his sample to be sent from NJ. But this also means it will take a little longer for his sample to be sequenced since there is more paperwork involved.
So for now, I await the paperwork so I can fill it out and send it back to the NIH.