KP Photography truly captured Phoebe's innocence and beautiful spirit during our family photo shoot today!
Phoebe is eligible for the special education preschool program in our school district for her medical issues as well as her developmental delays.
Today is her first day of school in this program and I have mixed feelings. The last two times we have tried preschool her system was unable to handle it. With no improvements to her health and her issues still flaring up with no warning, I am scared and nervous this attempt will be like the others.
But in true Phoebe style, we are choosing to Roar and take each day as it comes! She has an amazing team working with her at the school, that is committed to making the program fit Phoebe's needs rather than forcing Phoebe to fit the program, and amazing doctors who have given us all the notes, restrictions, guidelines and letters to keep her as safe as possible.
So here we go...ready as we will ever be to Roar at Mt Prospect School!
Phoebe's genetic snipet test that was done in December was being denied by insurance. Because of this denial and the high cost, the lab did not want to start running the full genome sequencing Phoebe needs.
We went through every level of appeal with the snipet test and last Thursday I participated in the last level of appeals...an appeal panel. Three people with no prior knowledge of the case read her whole file pertaining to this test. My participation in this panel was to state further information and reasons why this test should be covered, as well as to answer any questions the panelists might have.
Today I received the decision letter from the panel and they are approving and covering the genetic snipet test from December! We don't know how much of the test will be covered, or what our expense will be, but this is still a win!
I would like to add that we did not discuss the full genome sequencing test during this panel. We still have a few levels of appeal available to us with that test, and the panelists did not want us to lose those appeal levels by considering it with the snipet test.
Phoebe's endoscopy biopsy results came back with no findings. Her GI doctor does not want to put her through more tests since she goes though so much already and her difficulty swallowing has not caused any serious affects. This is now another thing that is hard to explain with no definitive answer.
With the results of the esophogram coming back with no findings, Phoebe's GI scheduled her for an endoscopy with biopsies.
The hardest part of the procedure was the fasting. She cannot have anything to eat 8 hours before the procedure, and with a scheduled start time of 11:30, it was bound to be an obstacle of keeping food and drink out of her sight and mind.
At 10 am we settled into her room in the day hospital. The nurse asked what movie Phoebe wanted to watch and she chose "Brave". Her movie choice complimented the shirt she wore perfectly. Her shirt said "I'm a fighter".
The child life specialist helped keep the time flowing while we waited for Phoebe's endoscopy to begin. They were running a little behind, but between the movie, coloring and playing Phoebe didn't notice at all. Shortly after noon, we wheeled her a few feet down the hall from her room for her procedure.
In the procedure room Phoebe smiled, giggled and played with the doctors and nurses. Everyone commented how they had never seen a child so happy and relaxed while undergoing anesthesia. I stood by her bed side rubbing the side of her cheek, telling her she was just going to take a little nap and I would be waiting for her in her room. She smiled, yawned and fell asleep. I leaned down and kissed her cheek and walked back to her room.
A short 15 minutes after I had left her side, Phoebe was brought back to her room. She was still asleep and would be for a little while longer. They said kids usually sleep for a half hour longer than their procedure, so a nurse would be staying in her room with us to monitor her vitals and help wake her up. Little did we know it would not be that easy.
Phoebe gave us some difficulty waking up. It took us an additional forty five minutes to wake her up. It was definitely the scariest forty five minutes of my life. Her vitals were good and stable but she was not opening her eyes or moving when we tickled her or moved her. I started to pinch underneath her toes and started to get some wiggles and movement. By the time she opened her eyes I felt as though I had aged ten years. She was very groggy and wanted to go back to sleep, but she was awake and looking at me.
Once Phoebe was awake enough to eat some crackers and drink some juice they wanted to see if the anesthesia wore off enough for her to walk. Poor Phoebe was still so groggy and tired that she had to hold both of my hands to help keep her up to walk. As we walked out of her room she saw a big table full of toys and her eyes lit up! The nurse told her that she could pick any prize she wanted from the table for being so brave!
With her prize chosen and being able to swallow and walk some, they discharged us to go home.
The biopsy results should be in on Friday, so all we can do now is wait.
1- Watching "Brave" wearing her "I'm a fighter" shirt
2- Phoebe and baby Cruella wearing their gowns
3- Coloring and watching "Brave"
4- Phoebe's eyes are finally open!!
5- Phoebe has been discharged and is ready to go home
The genetic "snipet" test that was done in December was denied by the insurance company the end of June. Since this test was initially ok'd by the insurance company to be preformed, we filed a complaint with DOBI and contacted Assemblyman Bramnick's office (both were instrumental with helping us last year with a similar issue) and a second level appeal was put in motion. We heard yesterday that the appeal will take place August 20 and they are allowing me to be a part of it (something that did not occur last year).
Phoebe's esophogram yesterday came back with no findings. While I am happy that it didn't show anything, it puts her GI back to the drawing board of trying to figure out why Phoebe has been having the swallowing issues that she does.
Back in February, Phoebe's GI doctor wanted us to watch her for a few months to see if she can go a meal without drinking, or if she needs the aid of a liquid to help the food go down. She also wanted to know if there were any foods that Phoebe was favoring or avoiding.
After waiting a few months, we made a follow up appointment to discuss what we have observed.
Phoebe is still making the harsh gulping sounds when she swallows, but it isn't just food any more. She makes this sound when anything is going down her throat. Food, liquid and even saliva. When it comes to eating, Phoebe uses a drink 95% of the time to help the food go down. The few times that she does not use a drink, you can actually see her swallow slowly and the discomfort from the food descending.
Because of this, the GI doctor ordered an esophagram. An esophagram is when you drink a barium drink while images are being taken of the drink going down the throat, through the esophagus, into the stomach and down into the intestines.
My main concern was the amount of radiation Phoebe would be subjected to. Other doctors of hers have refused to do CT scans because of the radiation, and I just wanted to make sure that her two lead doctors were ok with this test first.
After a conference between the doctors and myself, they gave the go ahead for the test.
So today we went to the hospital to have the test done. She was scheduled for 11 am, and was not pleased with that at all. Since it was a test that required fasting, she was not allowed to eat or drink for 6 hours prior. And with waking up at 7:30, she was really hungry and thirsty by the time we arrived at the hospital.
Phoebe did not like the barium drink at all. As soon as she took one sip she spit it out and started to cry. But with some encouragement and coaching for me, she toughed it out like a champ for the whole hour.
Now, we just have to wait for the results.
Deciding what to do in regards to full genome sequencing has been rough for us. I spoke with someone at Assemblyman Bramnick's office today in length (as he has been helping us since the complaint to DOBI was sent) and he is trying to find out how we can try to get a liason for Phoebe with the insurance company since her condition is a continually ongoing "beast" (my word not his).
I have also talked to Phoebe's lead doctor about the undiagnosed program at the NIH (since they would do a full genome sequencing, and while Phoebe's symptoms point to ALPS, doctors don't think it is a form they have seen/heard of before or it is a mixture of diseases) and asked if he thought it was worth a shot to try to get Phoebe in. He said it may be easier to get into Harvard but it was definitely worth a shot.
Within hours he had a referral typed and packet ready to send. With the medical records I have on top of the records he has, over 100 pages of results along with ultrasound discs and letter's of necessity were sent to the NIH. The beginning of this week we got a request from the NIH for Phoebe's growth history, neonatal history and pictures of Phoebe's symptoms and how things affect her (which I'm glad I document all of her swelling, growths etc with photos). Upon receiving these requested items, they said it would take 6-8 weeks for them to review everything and make a decision.
Phoebe's immunologist at CHOP wrote and sent a letter of medical necessity for the genetic testing to her insurance company.
In this letter the doctor states that Phoebe's treatment options range from an immunosuppressant to bone marrow transplant, and that genetic testing could help ensure that they are giving Phoebe the right form of treatment rather than putting her through unnecessary courses of treatment.
How, with this letter and 3 years of Phoebe's medical history, can they still be denying this testing?
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.