Happy 7th Birthday to our rare gem! Phoebe, you have the most unwavering courage and strength, especially for someone so young. Your spirit radiates in everything you do! Your ability to greet each day with wonder and amazement in your eyes is a gift, one I hope you always have! I look at how you handle going through all that you do and you inspire me! You are teaching so many people along your journey and giving a voice to so many! You are a champion, my little fighter! I am honored to be your mommy! I love you puddin!
It has been a while since I have posted an update. With the summer ending we started our marathon of doctors visits to get letters, medical forms and other documentation needed for Phoebe's IEP, as well as just having our regular check up intervals with specialists. We are only a month into school and the visits/work needed to help keep Phoebe safe at school while still giving her as normal of an experience as possible hasn't let up. Add that on top of the other girls starting school, me working, me starting my BSN program and every day life....it's a balancing game. And while I have gotten pretty used to handling it over the past 5 years, when there is a medical emergency like my mom's eye surgery last week, sometimes I just need a moment to breathe. So I do apologize for not keeping you all more up to date on what has been happening with Phoebe. This update may be long but here it goes...
Phoebe is still on a altered school schedule. This year has been trickier than the previous two years, because 1st grade being required in NJ. (kindergarten is not). So a lot of what we have been doing throughout the past few months is getting Phoebe's restrictions documented in letters from her doctors. The reason we are still doing it....Phoebe is rare. There is no blue print or guide to tell us how to manage her care at school. We need to account for every detail of her day including gym, recess, other specials, walking in hallways, walking to the bathroom, using stairs vs using the elevator, having a stroller handy, extra earned recess, PT, OT and what she can do during the times something is going on that she is not able to participate in. We are by no means done figuring this all out for this school year.
What we have figured out so far is Phoebe is not to do gym or recess, and that includes extra earned recesses. Her lung issues are exacerbated by physical exertion, add to that her muscle fatigue and you get her doctors feel that it is not worth the risk for her to participate in these things. Also going along with her lungs and fatigue is Phoebe being accompanied when walking in the hall to go places in the school, including the bathroom. No matter how short of a trip it is, her doctors want someone with her. And, because her specials are on multiple levels of the school, her doctors think it is safest for her to use the elevator instead of the stairs to get to these places. In place of gym, she is receiving her PT and OT so she is not being pulled out of academic portions of the day. She also gets a double special with another first grade class for her second gym period of the week. In place of recess, Phoebe is reading, doing puzzles and playing in an area inside the school. I know some may ask "doesn't she feel left out by missing recess?". I asked Phoebe that very question and her response is "No mommy. I get to play with toys by myself! Anything I want without waiting!".
Now medically, it is even more complex as to what we are doing. We are still waiting to hear from the NIH about our return visit. They have a list of tests they do want to run, but are waiting for final word from the genetics team who has been researching and pouring over her genetic raw data. This way all the tests they want to run are being done on the same visit, instead of orchestrating multiple visits or materials being sent to NJ. While this is frustrating as it has been over 14 months since we were at the NIH, I keep telling myself that it has been 5 years since this began with Phoebe, so we can continue to be (sometimes) patient and wait.
In the meantime in NJ...
Phoebe's immunologist and geneticist are working to get a different type of genetic testing done for Phoebe. Mitochondrial DNA testing. She has been complaining that her legs feel heavy, she is tripping more, her legs are giving out more causing her to fall more, and she is asking for help when going up our stairs in our house because she does not feel safe going up or down them alone. What does this have to do with mitochondrial DNA testing? The mitochondria is the power house of the cell and has it's own DNA. New research is showing disorders associated with mitochondrial DNA. This is a potential lead in diagnosing her hypotonia and muscle fatigue. But new means rare (which is nothing new for us with Phoebe) which means insurance not wanting to approve the testing (again not new for us) because not a lot is known about these disorders or what to do for them. We have only just begun the process of getting approval for this testing, so it is a waiting game while jumping through hoops to get insurance what they are asking for so the test will be covered. Luckily, I have saved all the addresses I need for help if they repeatedly deny the test.
Phoebe's pulmonologist saw her today. With how short of breath Phoebe gets, especially when she exerts herself, he is suggesting an exercise test that will be done at Columbia.This will help give us an idea about how her lungs and heart are working, but it will also give us a look at how her body is using the oxygen she is taking in. The test is not too invasive. She will wear a mask on her face while she runs/fast walks. He did his own test with her today to see how she breathing and how her muscles were feeling by having her run back and forth in his hallway. She managed to do 5 laps, which is great, but he could see she the fatigue setting in more with each lap and how her lungs were overworking for her to breathe. He noticed that each lap took longer than the previous one and she began tripping more and more with each lap. So he is conferencing with Phoebe's cardiologist (who happens to work at Columbia as well as SMG) about arranging this exercise test for Phoebe.
All we can do now is wait..... Wait to hear what our next steps are for approval with the mitochondrial DNA testing..... Wait to hear when we go to Columbia..... Wait to hear when we return to the NIH......And wait to get into another appointment with her immunologist because Phoebe has even more enlarged lymph nodes, and they have begun to protrude worse then they have in a while.
As we wait, especially when it gets hard to wait patiently, as it is starting to, I close my eyes and say to myself "Roar". Cause when I open my eyes and see her strength, mine is renewed.
"I got the eye of the tiger, a fighter
Dancing through the fire
'Cause I am the champion, and you're gonna hear me roar
Louder, louder than a lion
'Cause I am a champion, and you're gonna hear me roar!"
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.