On the 6th day of #RareChristmas Phoebe wants you to know...with rare disease "when you hear hoof beats, you think zebras!" Doctors are taught in medical school "when you hear hoof beats, think horses." They are trained to look at your symptoms and try to make them fit into these perfect little boxes of diseases they know about, diseases they can treat, symptoms they can make go away. But this is not the case with rare disease. Not every disease fits into these little known boxes. Not every symptoms can be made to disappear by taking a certain medication or following a certain regimen. Not every disease can be cured by going to a doctor. On almost every one of Phoebe's trips to the hospital, at least one doctor tries to push on us that they have "figured it out, have the magic cure, know how to fix her". They look at the symptoms she is experiencing and think horses, because that is what they are trained to do. It is every once in a while, like we experienced today, you come across a doctor who doesn't try to fit her into that box. Who hears the history and symptoms and knows she is a zebra. And the doctors who are aware that there are zebras out there, make all the difference in the care Phoebe and the other rare warriors receive. #12DaysofRareChristmas
Phoebe fought the best she could to stay home, but she couldn't fight it anymore. IV fluids and lab work were needed at the ER today.
The staff at the ER was some of the best we have had while there! They gave her a mask to help protect her and were attentive to her extensive history. They consulted with her main doctor to ensure she was getting the right care and not once did anyone try to push that "miracle plan" that would be the one to "cure her". (As many have done in the past)
She needed the IV fluids for dehydration, which is unfortunately something she goes through regularly, which makes her a pro at needles...no crying, no flinching, just sticks her arm out and stays still. Her lab work, showed what it always does, confusion.
She is happy to be home, lounging on the couch under her blanket eating a bagel and, as she promised the staff at the er, drinking a large cup of water.
On the 5th day of #RareChristmas Phoebe wants you to know...the disease is always there. Some days are good, they're filled with laughter, joy, smiles, and playing around. Some days are bad, they're filled with tears, sadness, pain and being curled up in a blanket. But no matter the day, good or bad, the disease is always there, and it's presence is always known. The symptoms never go away, they just lessen or intensify, with no rhyme or reason to why they do. So you make the most of the good days, because you never know when they will change. And you fight through the bad days, hoping they don't last too long. #12DaysofRareChristmas
On the 4th day of #RareChristmas Phoebe wants you to know....the spoon theory by Christine Miserandino. The theory is simply a story that explains what it is like to live with a chronic illness or disability. A person who is chronically disabled or ill only has a limited amount of expendable energy each day. The spoon theory uses a metaphor of spoons to turn energy into a measurable concept. A person living with chronic illness or disability only has a certain number of spoons in their possession each day, and every small action a person takes can result in a lost spoon. Once a person loses a spoon, it is very hard to get that back until after a full night’s sleep. Simple actions like getting out of bed, taking a shower, walking, and driving can require enormous amounts of energy that people don’t have. These chronic illnesses or disabilities can be visible or invisible. You cannot look at a person and tell if they have a chronic illness or disability or not, and these illnesses are not always physical in nature.
On the 3rd day of #RareChristmas Phoebe wants you to know...living rare comes with limitations. You are not always able to do things other children your age do. You are not always able to experience things your siblings have as they have grown. You are not always able to participate in activities and gatherings with friends and family. Phoebe experiences many limitations each day. And no matter how routine her limitations are, or how "used" to them she has become, she still longs to be just like her sisters, able to do all the things they get to do. #12DaysofRareChristmas
On the 2nd day of #RareChristmas Phoebe wants you to know...living rare measn fighting to stay out of the emergency room. With the excitement of Christmas, looking at the lights, waiting for Santa and the joy of playing with her new toys, Phoebe has a difficult time pacing herself. She doesn't want to miss anything and does not take the rest or fluids she needs. There past few years she has needed trips to the ER the day after Christmas for IV fluids and rest. And while we have not had to make a trip to the ER yet today, she is balancing on the edge of possibly needing to go. So it is with the tricks her team of doctors have taught us that she is fighting very hard to stay at home. #12DaysofRareChristmas
On the 1st day of #RareChristmas Phoebe wants you to know...living rare usually means you have a large team of doctors that you visit frequently. Phoebe has a team of 16 doctos in 12 specialties across 3 states that work on her care. Having a team of doctors that size means she has an appointment with on of them just about every week, sometimes she has multiples appointments a week, and occassionally she is lucky to have a week with no appointments at all. But whether or not we have appointments during the week, we are in constant communication with her team of doctors discussing her case, reviewing results, brainstorming ideas, or updating on her current status. #12DaysofRareChristmas
Phoebe had her repeat CT to check the status of her middle lobe atelectasis and enlarged tracheal lymph node. Even though she still has shortness of breath and difficulty breathing, along with coughing, but we still hoped we would see some improvements since her breathing has been relatively managed on the two inhalers she has been on for the past three and a half months.
When comparing the two CT's side by side, her results proved to be more frustrating than we expected.
This CT was done without contrast (her original CT was done with contrast) so we did not get an image of the enlarged tracheal lymph node. So we do not know if the lymph node is the same size or if it has gotten bigger. Phoebe's lymph nodes enlarge due to hyperplasia (enlargement due to an increased rate of cell reproduction). Because they are enlarged from rapid cell growth and not just inflammed from fighting an infection, they do not reduce in size. They only get bigger. This lymph node will be something we need to find a way to monitor without needing multiple CT's, especially with it being on her trachea.
The CT did show the middle lobe atelectasis has improved. But they did find residual linear bandlike changes in the area. They also found multiple nodules through out both of Phoebe's lungs. The nodules range in size from 1 mm to 3-4 mm each. But what does all this mean?!
The linear bandlike changes are permanent scar tissue caused by the atelectasis. Irritants that we breathe in along with acute infections (like pneumonia) and chronic respiratory diseases (like asthma) all damage our lungs. This damage does not always completely disappear. Much like our skin when we get cut that leaves a permanent scar, showing where the damage was done.
The nodules, are a bit more complicated. Nodules in our lungs can be from irritants that we breathe in that get trapped inside the sacs of our lungs. In adults, the size of the nodules are what signals to a doctor if there is something to be concerned about, as well as determining what further testing is needed and how often to repeat imaging.
In children however....they do not have enough research to indicate any of that. They do not know what the size of the nodules mean in children, or how to safely follow or monitor the sizes of the nodules. The radiation risk to children from having frequently repeated CT's is high enough that the typical course to follow is to do nothing but manage the respiratory symptoms as they appear.
We have been waiting since the middle of October for today's appointment with Phoebe's GI doctor. The moment we became aware of her weight loss, Phoebe's team of doctors and I wanted to get her into her GI to see if she has a malabsorption problem. Especially given that she has such a good appetite and is eating a high number of meals a day.
As soon as the doctor came in the room she pulled up Phoebe's spread sheets to show her history of percentile rankings of heights and weights taken by all the doctors at Goryeb. (And since Phoebe has 10 specialists at Goryeb, there is a very thorough history in her records). What she noticed was drastic, steady declines in her height, weight and BMI since March of this year.
Up until March, you saw Phoebe's normal growth pattern. She would fluctuate a pound or two, plataeu for a little, but the record showed an incline. Everything after March showed nothing but decline. The BMI percentile was the most alarming to the GI doc. In March Phoebe was above the 50 percentile for BMI. But at today's appointment, she was below the 30 percentile. And she has not grown in height enough to warrant that kind of dramatic drop.
True to Phoebe form though, her blood work did not give us a clear cut reason for her weight loss. What happened next is one of the reason's why I love Phoebe's team of doctors so much and why, despite still having no answers, I know we have the best team working on Phoebe's care.
Phoebe's GI doctor said "children with chronic pulmonary, cardiac or neurologic problems have been proven to have a harder time gaining weight let alone maintaining their weight. Because of the extra work these systems have to do to work properly and the difficulties they can experience, the amount of calories a healthy 6 year old would consume are not enough for these children."
I have always kept Phoebe's entire team up to date on everything she goes through, tests other doctors order and findings other doctors find. I have always felt her entire team needs to be as up to date on everything as much as possible. Because of this, the GI doctor was aware of the pulmonary issues Phoebe has been facing, most especially in the past 5 months.
This doctor could have easily looked at us and said that since the problem did not appear to be specifically GI related, she was signing off on this issue. Instead, this doctor (like the others on Phoebe's team) looked at the whole patient, all the systems of the body, all the complications and difficulties Phoebe has, and tried to connect the dots of how all these other systems and difficulties play a role in her weight loss.
Phoebe's CT results, shortness of breath, difficulty breathing, and poor pulmonary function test results could be a major contributing factor to Phoebe's weight loss. And by following her spread sheet, the more difficulty Phoebe was having with her lungs/breathing, the more we saw her weight drop.
The GI doctor suggested we do two things. The first is a stool test to see if Phoebe is losing too many fats, Though she is predicting this test will come back normal, she wants to make sure we cover all our bases given Phoebe's history. The second is a food diary to calculate the caloric intake over three days. The diary will then be submitted to a dietician who will analyze what Phoebe ate while taking her vast medical complications and history into consideration. The dietician's recommendation will hopefully give us a better game plan than "eat 7, 8, 9 meals a day".
We submit the completed diary tomorrow evening. Since it's a holiday weekend, I don't believe we will hear anything until the end of next week, at the earliest.
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.