I should have posted right after our appointments last week but, I hit a wall. I am completely burnt out and overwhelmed after our visits.
I returned the email to the 7 doctors who were so kind to email me. To my surprise, not only did I get immediate responses that I reported on last week, but Wednesday, on our drive down, my email was blowing up with doctors wanting more details. Two from NIH wanted to talk to me. I finally had to pull over in Ogden and let Spencer drive so I could answer emails and phone calls from these very concerned doctors I have never met.
I had an hour long visit with Dr. Giri out of the NIH Genetics division. She agreed with the other docs that we are likely dealing with 2 separate genetic diseases. The more she explained things, the more I understand and agree. One thing everyone agrees on is the seriousness of Shelbie's situation. I have been told by several of these doctors that we have an extremely complicated and rare genetic situation going on. I feel like we are in a race against time. Until they can determine what is causing all these brain issues with Shelbie, they don't know how to treat her but things just keep progressing as we sit here scratching our head.
Our appointments with Oncology went well mostly. We started with a Nurse Practitioner who was so rude and not smart! Shelbie's counts came back 3 times higher than normal so I said, "She's sick that's why the counts look normal but they are very high."
"No she's not. She's fine!" The NP said.
"When her normal white count is 1.5-2 and she is pulling off a white count today of 6...she's sick. She's been sick for over a month and we can't seem to get her better."
"I'm telling you, she's fine!" The NP said.
Whatever...I don't argue with ignorance. Meanwhile, my phone was blowing up with text messages! I glanced down to find all three of my kids sending the most hilarious GIFS of stupid medical problems and dumb doctors. It was one right after the other and I could hardly contain myself.
We got to Spencer and she asked if we had received results on his stool cultures to determine why he is sick every single day...We haven't. She proceeded to tell me everything was normal. "So that's great news, he's totally fine."
"Except it's not. How do you explain his continual weight loss, diarrhea etc? He can't even eat anymore without being violently sick in the middle of the meal." I asked.
"No, he's fine."
When we got to Sam, I just told her he was good as gold. I just wanted her to leave the room. And she did.
When our actual doc came in...I was relieved! We finally got somewhere.
He recently went to an international conference on hematological disorders and our old doctor, Dr. Shimamura was a speaker. He was able to meet up with her afterwards and they were able to discuss our case. They will continue the conversation next week. I also shared with him all the contact information for the 7 doctors who specialize in DC and he plans to conference with them. I am so grateful for him!
He was pretty worried to see the latest results on Shelbie. He is quite concerned that the Arachnoid Granuloma could be the cause of her stroke. He wants to do an angiogram but will wait to order that after he has met with these other docs. We also talked about the possibility that she could have the genetic immune disease I mentioned in my last post Adenosine Deaminase 2 Deficiency. It sure sounds like a possibility. Again, it's going to take some research before jumping into it.
We got some results back and Sam's immune system has officially crashed and his carbon dioxide is extremely high which is a sign his lungs are struggling. I'm waiting to hear back on what we do now. Curiously enough, Sam is home sick again! This time, non stop vomiting. Poor kid. Can't catch a break.
In other news...Shelbie and Spencer are struggling in California. I begged and pleaded for them to just come home tonight. Shelbie is barely keeping up and Spencer is really sick. He thinks he has pneumonia. So, now I have Shelbie watching over Spencer. My insurance doesn't cover him down there so if he ends up in the ER...I'm toast. For now...I'm praying we can avoid a disaster.
Clearly, we can never, ever expect anything in life to be normal. I am so frustrated with things right now. I was kind of looking forward to being alone and catching up on work and sleep but so much for that. It's non stop text messages from three sick kids.
Oh well...such is life.