What really melted my heart was when Phoebe said "we Roar mommy!"
I walked into Phoebe and Naomi's room to get the ready for the day, to find they had already picked out their shirts.
What really melted my heart was when Phoebe said "we Roar mommy!"
Happy 4th Birthday to my sweet little Phoebe! I am so proud to be your mommy and I love you more than you will ever know! You are the strongest and bravest little girl I know and I will continue to help you Roar! God knew what he was doing when he made you mine!
Phoebe's immunologist called me today to let me know that he had talked in detail about Phoebe's case with a geneticist in Morristown. He wants me to call him right away to make an appointment.
Hopefully we will be able to get in to see him soon and see where Phoebe's levels are at.
That way we will know if we can start immunosuppressant treatment or if we have to find another option.
I heard from Phoebe's immunologist today and we went over how her visit to CHOP went.
During our discussion, he mentioned that there was a slight change in plans on how we would proceed with Phoebe.
The most worrisome levels that we have right now are her NK cells. She as very few of these cells, and the few that she does have have very little function. We need to repeat this testing first, before starting any kind of treatment.
If her levels come back normal, her last test could have been a fluke or an error and she can start her immunosuppressant treatments. If her levels come back as low as the last test, we will not be able to start her immunosuppressant treatments.
He also told me that he needs to look into the full genetic testing we need done. While he agrees that we need to do this, he wants to find the best way to get it done. If we draw the blood in New Jersey and overnight it to a lab for the testing, we would have to pay for it all up front and then fight with insurance to be reimbursed. Since it is a 20 thousand dollar test, he does not want that to be the way we go about this.
He wants to do some leg work and conference with the immunologist in CHOP to see what the best way to proceed will be. Limiting Phoebe's travel is one of his top priorities.
Phoebe's favorite princess, Cinderella, made a special appearance at her birthday party! A special guest for a very special girl!
Photos: 1- Cinderella's Pumpkin Carriage
2- Cinderella's Glass Slipper Pillow
3- Phoebe dancing with Cinderella
4- Phoebe and Cinderella's mouse friend Jaq
5- Cinderella crowning Phoebe as an official Princess
6- Cinderella bowing at Princess Phoebe
7- Princess Phoebe and Cinderella
I have excellent news!! We have found our "Patch Adams"!!!!!
We saw the immunologist at CHOP this morning and she spent 90 minutes going over Phoebe's entire health history, labs, biopsies, symptoms, and did a thorough physical exam! What she said still has me crying tears of joy and hope!
She has a plan!!!
She thinks there are a few rare issues going on with Phoebe that have been causing the issue with getting a definitive diagnosis.
She wants to do some repeat testing on the levels that are the most worrisome and she wants to do more detailed testing including a complete genetic work up! She said the genetic work up will be a fight with insurance because it runs about 20k, but she said "If you are up for a fight, so am I!"
She also said it's horrible that this has been going for 2 years and no one has tried to "treat" anything that has been going on. She says Phoebe deserves a better life than that.
She wants to try a treatment regimen!!!
She wants to start her on an immunosuppressant injection medication once a day and see how she does in a month!
If this medication helps we should see a major improvement in Phoebe's symptoms and overall health in a few weeks!!!
She is also going to work with our immunologist here (who she knows professionally through CHOP) so we won't have to travel so frequently to see her. She knows these trips take a lot out of Phoebe and she wants to minimize stress to her system!!!
It is far from over, but hopefully the meds will help and Phoebe can start to have the life she deserves!!!!
With our stay in Philadelphia being extended so we can see another specialist at CHOP Thursday I decided Phoebe and I should have a fun mommy daughter day!
I took Phoebe to her very first movie in a movie theater to see "Dolphin Tale 2", we went to visit a good friend of mine from High School and her two sons and because we are members we went to the Philadelphia Zoo!
Photos: 1- Fountains at the Zoo
2- Little Monkey Phoebe
3- Posing with Leopards
4- Posing with Tigers
5- Bonding with a Tiger
6- Phoebe wanted her face painted like a Blue Tiger
7- Swan Boat paddle boat ride
8- In the theater for her first movie
They extended our stay so we are in Philly til Thursday.
The oncologist was really nice, and actually spent an hour with me and explained things to me.
Basically, with how little is known about the immune system and all of it's diseases and disorders, they need patients to fit into certain bubbles to have a definitive diagnosis. Phoebe and all she is experiencing does not fit into one of these bubbles, so we can't get a definitive diagnosis, at least yet. At any time she could have the specific labs and presentation that puts her in a specific bubble or they could classify and name a new bubble that she fits in.
He explained what she has been experiencing could mean the "gates" just haven't fully opened yet and this could all be the tip of the iceberg. Or it could mean they have not named/identified exactly what is going on with her. (both very common with rare disorders) This also could be her "normal", where she doesn't get better but doesn't get worse. Only time will tell and all we can do is wait.
He also said that the only thing he could definitely say is that this is an autoimmune disorder, and regardless if it is named or unnamed the protocol is the same. We treat each symptom as it appears.
He said medically, they are getting better with naming things and classifying them, and that they are slowly chipping away at the big bubble of immunity, but there are no real advances in treatments for the wide variety of diseases and disorders they are finding.
If her symptoms get worse or all her levels go out of whack, they will then put her on an immunosuppressant.
The reason for our extended stay is he wants us to see an immunologist because the levels of her NK cells and their functions are worrisome.
So this next specialist will determine our next step and tests.
Tonight we had an event at Kayla's Creative Arts Studio. Those who registered would get a three hour BYO Painting Class where we would learn how to pain Van Gogh's Sunflowers while listening to the soothing live jazz music.
An amazing group of people came and enjoyed a relaxing evening of wine, snacks, music and art.
Every chance we get to share Phoebe's journey and help educate people about rare diseases is such an honor and a blessing!
Photos: 1- Jazz musicians play while we paint
2- Painting the flowers
3- Finished works of art
4- My own handmade Van Gogh
It has been three weeks since our appointment at Cincinnati Children's Hospital. Throughout those weeks we have been slowly receiving the results of Phoebe's tests. With the number of tests they ran we knew that it would take two to three weeks for all the tests to be complete and interpreted. I received an email late yesterday from our case manager informing me that the last test had come back and that the Fellow we had met with would be calling me one day this week to discuss the results, what they mean and what our next steps would be.
I got that phone call today.
I would love to say that this phone call gave us a direction, a path, answers even, but it didn't. In fact, it did the exact opposite.
The reality of a rare disease is that answers are few and hard to find. What little is known about a rare disease becomes the definitive criteria for diagnosis, medication, and treatment plan. The known gets put in box, and each person must either fit perfectly in that box or you get met with a shrug and an "I don't know".
What I got met with today was that they do not have enough information to definitively confirm a diagnosis, of any kind. She has a few levels that have them really concerned, a handful of levels they want to monitor and some good levels. She will need further work ups and more detailed testing, but they want to wait so, as he said, "we don't perform unnecessary testing when we don't know the full scope of what we are dealing with".
The box that these doctors are trying to get Phoebe to fit into first started to be studied at the NIH in 1990. It wasn't until 1995 that the NIH named this newly identified condition. And as the Fellow said "Immunity is a complex creature. We do not know or understand every aspect of it or the diseases associated with it. We may never know."
I have known from the beginning that we would only be able to treat symptoms as they happen, but telling a mother to sit and watch as her child goes through things is torture.
I explained to the Fellow, doctors do not see what every day life is like for those dealing with illness. All they see is how the patient is doing during an exam. I told him they cannot make a conclusion about a patient's life and how their illness affects them every day based off a brief 10 minute encounter and lab results. Especially when both can change very quickly. As the parent caring for the child, what I say about how she is doing and what she is experiencing should be taken more seriously. Especially since out of the 10,080 minutes in a week, one doctor on average will only see her for 20 minutes, while her family sees her the whole 10,080.