Phoebe’s story written by Mom

Phoebe is an immunocompromised child living with and battling rare disease. Life for Phoebe is very different from that of a healthy child. Instead of a backpack full of school supplies, she has a backpack full with a thermometer, Tylenol, various size band-aids, gauze pads, cloth tape, neosporin, foaming wound cleaner, antibacterial gel, wipes, doctors numbers and a detailed list of what to do in each possible scenario.

Instead of running around carefree, Phoebe has to be careful to not get a cut, scrape or splinter. She has a history of neutropenia, which is where your body cannot fight off bacterial infections. With a temperature of 100.3 or higher and low neutrophil levels, she is admitted into the hospital to receive IV antibiotics that are much like what is given to patients undergoing chemo treatment.

Instead of scars from playing and being a kid, Phoebe has two scars on the side of her neck from surgeries. She experiences recurrent growths of her lymph nodes and the scars are from the two excision of large lymph nodes. Her last excision was to remove three nodes that had fused together and were growing as one. They totaled 2 inches in length and were growing down into her neck. She currently has more lymph nodes that are enlarged and more become noticeable with each passing week.
Instead of playing sports with her sisters in the backyard, Phoebe has to be careful of her abdomen because her liver and spleen are enlarged. Instead of reminding her to take small bites, Phoebe is hesitant to eat a lot of foods and barely has an appetite. She takes a pause before swallowing and makes a harsh gulping sound when she finally does. We give her nutritional drinks each day to ensure she is getting proper nutrition and make sure we always have a supply of yogurt, ice pops, and a variety of other soft foods for her.

Instead of running around with endless amounts of energy, Phoebe has small bursts of energy that do not last very long. The majority of the time she is tired and just wants to lounge on the couch under her blanket. Instead of the occasional fever that accompanies a cold, Phoebe gets recurrent fevers multiple times a week, without her having an illness or infection. Fevers will come out of nowhere, last a day or two, or sometimes the whole week. The combination of being tired, a fever and the discomfort of swallowing has brought us into the emergency room for IV fluids because Phoebe was dehydrated. You know your child is really not feeling well when you offer her ice cream, ice pops, anything she wants to get fluids into her and she refuses them all.

Instead of always feeling like a beautiful princess, Phoebe sometimes feels like the “ugly duckling”. Her body, most especially her face and neck, swells multiple times a week without evidence of infection or illness. Some people stare
at her when she is swollen because her face looks disproportionate –the right side will protrude very noticeably and these stares are not lost on me or on Phoebe. She knows when people are staring at her. She gets embarrassed, self-conscious and buries her head so she can’t be seen. This is what hurts me the most. No matter how beautiful I tell her she always is, she does not always believe me.

Her doctors believe she has an ALPS like condition. ALPS (autoimmune lymphoproliferative syndrome) is a condition that causes multiple white blood cells to rapidly form, affecting multiple organs and systems and carries a lifelong increased risk of lymphoma and other cancers which can be fatal. Key characteristics of this disease is the accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.

This disease was first named in 1997, and there is still not a lot known about it, how many types exist, and all the ways it presents in the body – which means Phoebe remains undiagnosed. 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”.

Without a definitive diagnosis, insurance denies coverage of necessary testing. Testing that is being done to help diagnosis that patient and potentially offer a treatment plan. Insurance claims these blood tests are “experimental”, “unnecessary” and “not safe or effective treatment”. It doesn’t matter what you or your doctors say in your appeals to try to
get the testing covered, insurance doesn’t want to hear it. And if a doctor for the insurance company hasn’t heard of the disease you are testing for? Well, then they tell you “that disease doesn’t exist”. Without insurance covering these tests, out-of-pocket expenses become astronomical very quickly. Savings accounts get depleted, credit cards get maxed out, paying bills becomes harder to do and the medical bills keep rolling in. I have been told from the beginning that we would only be able to treat Phoebe’s symptoms as they happen until we know what we are dealing with, but telling a mother to sit and watch as her child goes through things, feeling helpless, is torture.

 

Phoebe’s blog
 Roar with Phoebe
Roar with Phoebe
Roar with Phoebe