It has been a month since Phoebe was hospitalized for four days for mouth ulcers and the perilous toll they were taking on her body. The pain from these ulcers was so severe that she did not eat or drink for three days, dehydrating her, and causing her glucose to drop to dangerous levels. The cause? The medicine she was on to try to give her relief in her normal daily life.
At her follow up discharge appointment with her immunologist earlier this month, they officially stopped Phoebe's medication. The ulcers are a side effect that effects 15% of patients. With Phoebe falling into this 15% and how severe they affected Phoebe and the condition it put her in, her doctor felt that it is not safe to restart the medication.
While her parents absolutely agree it is not worth the risk to restart this medication, the decision to stop it has put them back to where we were in October... no answers, no treatments, and no relief from the pain and swelling for Phoebe.
Two weeks ago Phoebe's blood test showed that we had the right dose of medication for her levels to be in therapeutic range! Since she is in range, she can have her blood checked every other week instead of every week. So tonight we are at the lab to check her levels!
Even though she is still fighting that lingering cold, and is still experiencing swelling and pain she is so happy to have a decrease in the times she gets her blood drawn!
It has been four weeks since Phoebe started her medication. Each week, she has to have a blood draw to check it's level to see if the doctor needs to adjust her dose so it is in the right therapeutic range for her. Each blood draw these past four weeks have shown the levels of medication to be too low in her system, and her dose has had to be increased each time.
While they knew it would be a process to find the right dose and that the right dose is what's needed to see if Phoebe will have some relief from the swelling and pain, it doesn't make it any easier for her family to see her still having a rough time.
Finally, after 3 long years we are going to try a course of treatment!
Phoebe has 20 enlarged nodes in her neck. This is the first time that her entire neck has been affected and it is also the first time this many have been affected at one time.
The right side of her neck, which is usually the only affected side, has the largest node at 1.7 cm. But the left side has a node that is very close in size at 1.4 cm. Both of these are just tenths of a centimeter away from the size of the lymph node that was surgically removed in 2013.
Her immunologist said it is clearly evident that things have progressed to the point that we should start the immunosuppressant Sirolimus. That instead of Phoebe holding to her "normal", things are getting worse.
He went over the side effects to watch for, what he hopes the medication will do, and the schedule of blood monitoring that we will need to do while she is on this medication. And while at first glance the side effects gave me reason to pause, they are the same whether she is on the medication or not. We still have to watch for the same signs and symptoms, she still has a risk for infection, and she still has an increased risk of cancer.
From Phoebe's Mom...
October 13 - Happy 5th Birthday to my brave little Phoebe! You, my sweet girl, are such a blessing! Your smile is infectious, your giggle is heart warming, and your spirit is breathtaking! You inspire me with the way you face every day with strength and courage! I am so honored and proud to be your mommy! Hand in hand we will continue to roar together! I love you baby girl!
Phoebe is eligible for the special education preschool program in our school district for her medical issues as well as her developmental delays.
Yesterday was 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!
From Phoebe's Mom:
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 esophagram and 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.
Our friend's, (Dan & Adrienne Green) 3 year old daughter, Phoebe, has been diagnosed with a rare and life-threatening genetic blood disorder. Autoimmune Lymphoproliferative Syndrome (ALPS) is an inherited disorder of the immune system. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen, which leads to gross enlargement of these organs. ALPS can cause numerous autoimmune problems such as anemia (low count of red blood cells), thrombocytopenia (low count of platelets), and neutropenia (low count of neutrophils, the most common type of white blood cell in humans). Her medical bills are skyrocketing, and it's just the beginning. Her parents will need to travel the United States for specialists at their own expense. Because ALPS is so rare, even though it is life threatening, none of the costs are covered by insurance. Please share this page and forward it to whomever you can. Together, voice by voice, Phoebe's roar is getting louder!
Here is her Medical History Blog: