You can see all the pictures and bios submitted at:
Phoebe's picture and a brief bio are a part of NORD's Handprints Across America for Rare Disease Day!
You can see all the pictures and bios submitted at:
ABC News Health held a tweet chat on February 17 to raise awareness for Rare Disease.
7 tweets from that chat were chosen for an article as a way to explain Rare Disease. Phoebe's tweet and picture were chosen as one of the 7!
Roar Phoebe, Roar!
Phoebe has had two follow up appointments in the last two weeks.
On the 11th, we were back in the ENT's office to see if the prevacid had helped Phoebe with her reflux. We had run out of the prescription the Saturday before, but they did not want to refill it until they knew if it was helping or making even the slightest difference.
Unfortunately I could not report that the medication was doing anything for Phoebe. The only thing I had noticed was that harsh gulping sound Phoebe would make when she would swallow sometimes was happening more frequently, and now it was happening with all foods, even drinking.
The ENT knew we had a follow up coming up with the GI to discuss this, so she opted to not scope Phoebe, not refill the prevacid and wait to see what the GI wants to do next.
Phoebe saw her GI on the 10th. Not only would we be discussing this gulping sound, but the doctor wanted to see if the added supplements have been helping Phoebe go to the bathroom.
At this appointment I was able to report good news. The added supplements have been helping Phoebe! Instead of a once a week/week and a half "number 2", she was now going 4 to 5 times a week. The supplements she suggested and in the doses she suggested were working. The only thing that had not changed was been the size and consistency. Because of this she wants us to add more oil into her diet to help.
When we began to discuss the gulping, we both knew there was the possibility of an endoscopy in the future. But before we schedule it, the doctor wants to have some more information about Phoebe's eating behavior first.
What the doctor wants to know is if Phoebe can go a meal without drinking. Dinner is the only meal we have all the kids eat before getting something to drink so they do not fill up. Dinner is also the one meal that is a guaranteed fight to get Phoebe to eat.
She also wants to know if Phoebe is favoring certain foods. Are there foods that will undoubtedly being about this gulping and because of this does she avoid these foods? Is it always the same foods or is it all foods at any time?
She wants me to record these things down and bring Phoebe back in three months to further discuss an endoscopy. I emailed the head doctor in charge of Phoebe's care to get his opinion on these follow ups. While I am in no rush to do an endoscopy, I do not want this to continue to get worse or there potentially be a problem going on that is being overlooked.
Photo: 1st day without swelling since last Wednesday, but she's still all smiles waiting for her GI follow up
Two to three months ago we had Phoebe's blood draw so we could do genetic testing in hopes that we would be able to figure out exactly what is going on with her and finally know what our treatment options are (if there are any).
The geneticist wanted to run two genetic tests. The first test is a overhead view. Basically it is like taking an aerial shot of a town to make sure that all the buildings that are supposed to be there are there. This test would only take about a month to get the results.
The second test is a detailed, very specific test. Basically it is like going inside all the buildings of the town and seeing if all the boards, nails, floors, doors etc that are supposed to be there are there. This test would take about 3 months to the results.
So when we had Phoebe's blood drawn the end of November/beginning of December we figured that we would have all the results we would need by March, April at the latest.
At the end of January, we got the first test results back.
As the geneticist expected, all of the buildings that are supposed to be there are there. This proves that what is going on with Phoebe is happening on a deeper, more intricate level. These results would now be used as proof to the insurance company to show the need for the second (and more expensive) genetic test.
As of the end of January, insurance was still holding firm in their denial of covering this second test. (They also were still holding to their denial of the first test they had previously okay'd, and rejecting appeals that were sent in)
The lab will not start running the second genetic test until insurance gives approval.
So instead of having all of our results by March/April, we are waiting as the lab and insurance continue to fight it out, hoping insurance will finally say okay so we can start the test, and when they finally start the test, we will have a three to four month wait for results.
I emailed our genetic counselor on Thursday asking what could be done in regards to the second test getting approved and started, as well as what could be done in regards to getting the first test's denial overturned.
But when insurance is fighting you tooth and nail on everything, the only response I can get is "we are working on it."
I know the geneticist and genetic counselor are doing their best. They have been amazing this whole time. They have dealt with my emails and phone calls, calmed my nerves, walked me through their processes, answered all my questions (even ones I didn't think to ask) and supported me during my breakdowns. They want an answer and plan for Phoebe as much as I do.
But, what can I do? Tell me who to contact. Tell me what to say. Tell me what I need to send them. Tell me what to do. There has to be something I can do! Isn't there?
The true author of this blog is my daughter Phoebe. This is her life. I am blessed beyond words to be her mommy and to be able to share her story with you.