On the 7th Day of Rare Christmas Phoebe wants you to know...our New Year's wish is always the same. That we finally get answers. Answers to questions we have been asking for years. What are the names of the diseases Phoebe has? What are the treatment options we could use to help control Phoebe's symptoms? How do these diseases progress? What are the prognoses of these diseases? Are there doctors who specialize in these diseases? What is the genetic component to these diseases? Are my other daughter's carriers of these diseases? Questions that we need answers to. Answers that could not only help Phoebe, but could also help the other individuals facing health challenges like she is. So every New Year's Eve we vow to continue the fight and search for answers. Answers we can give to Phoebe, our family, the medical community, and all the rare undiagnosed families throughout the world.
On the 6th Day of Rare Christmas Phoebe wants you to know....it is important to find your happy place. For Phoebe, her desire to be just like her sisters, able to do everything they can do, able to experience everything that they do, is something that she struggles with each day. Her health complications and symptoms make her reality one where she doesn't always get to share their experiences or do everything she wants to do. Early on in our journey we knew we would need to find a happy place for Phoebe. Somewhere where she could forget about her limitations and feel free. Luckily, we found such a place early on in our rare and undiagnosed journey. Our first family vacation was to Disney World. The moment we walked into the park and Phoebe laid her eyes upon Minnie Mouse we saw a joy we had never seen before. Phoebe had found her place. The place that made her forget all about the doctors, specialists, tests, procedures, and treatments. The place that made her feel that she was just like her sisters. When they tell you Disney is magic, I can assure you that it truly is. The services that they provide for individuals like Phoebe is unmatched. She gets to experience every character encounter, every ride, every parade, every show...just like her sisters, with her sisters. Disney gives Phoebe the feeling that she struggles to find everywhere else. For that, I will be forever thankful.
Photo 1: Phoebe being in the Magic Kingdom and seeing Minnie Mouse for the first time
Photo 2: Family vacation to Disney World November 2018
On the 5th Day of Rare Christmas Phoebe wants you to know....living rare can feel like a constant battle between wanting to be like the other children and knowing your body won't allow it. Phoebe especially struggles with this. Unless Phoebe is in the midst of a flare up, it can be difficult to tell that she is plagued by health difficulties. One thing we hear often from others is "she doesn't look sick". And while this may be true a portion of the time, it does not mean that there is not serious complications affecting her, even when she is not experiencing a flare up or health crisis. In Phoebe's eyes, she "doesn't look sick" either. She looks like all the other kids. And what Phoebe wants more than anything is to be able to run around, play, and do all the things the other children get to do. But she knows she can't. For the most part. Sometimes, things are so exciting that Phoebe wants to try. And we encourage her to try. This way she can really learn her own body and limitations, and be able to recognize how far to push herself and when not to. She has been getting better at knowing what her body will and will not allow her to do, as well as telling us when she is having difficulty breathing or her legs are getting tired or hurting. But unfortunately, Phoebe sometimes still pushes herself too far. When this happens her symptoms become exacerbated. And while she has begun to recognize when she has pushed herself too far, the desire to want to participate in everything with other children is still so great inside her. What has happened as we have navigated these six (going into seven) years of Phoebe being rare and undiagnosed is that we have gotten really good at ready her body's cues and signals so we can intervene before things get out of hand. And while this works really well when she is with one of us, there are times Phoebe is at school, on the bus, with friends and other family members that may not know all the things to look for. It is during these times that we have to stress that even though she "doesn't look sick", and she wants to push herself to try, there is a limit to what she can do. Including things that she simply cannot do. Phoebe, knowing her body better and better, understands more and more why there are some things she cannot do at school or when she's out. But it doesn't take away the desire to be able to be like everyone else.
Phoebe has been making slow recovery progress, which is normal given all that she goes through medically. We are still alternating tylenol and motrin, and it is controlling her fever, staying within the range of 100 to 102. While we don't like seeing the number 102, it is the occasional spike she experiences throughout the day instead of the norm we are trying to break away from.
She has been reluctant when it comes to her medications and treatments this time, which we were expecting since she has more than normal right now. In addition to her normal medications (which already consists of 6 medications) and alternating tylenol and motrin, Phoebe is taking Tamiflu twice a day, albuterol nebulizer treatments every 3 hours and saline nebulizer treatments as needed. So far these medications have not produced any adverse reactions and have been providing the relief they are meant to provide. For that we are thankful, but we are also counting the days until we can start to scale back on the medications/treatments this flu has required.
For now Phoebe is still miserable and exhausted. Her coughing has made sleeping difficult and only done in short spurts throughout the night. Her nose is raw and red from how much it is draining and how often tissues are needed. Her muscles are sore and weak, making tripping and falling more frequent than normal. But what I am most proud of with Phoebe is how much she is drinking. She is not drinking a lot at one time, but she is drinking throughout the day and keeping herself hydrated! Something that is never easy for her to do in this state.
But what this flu has also taught us is that there is another white blood cell in short supply in Phoebe's body. We were first made aware of Phoebe's health issues from lab results showing her neutrophil counts were very low (white blood cells that fight bacterial infections) making her neutropenic. From there we discovered Phoebe has an extremely low amount of NK cells (white blood cells that fight cancer) and the few she has have little to no function. With Thursday's labs we learned another white blood cell that is meant to fight infection is very low in Phoebe's body. Her lymphocyte count is 0.56. Her immunologist said her number being this low shows us just how much Phoebe's immune system is affected and how it is getting worse. (comparing these results from Thursday with well visit lab work, her numbers do show a downward trend, though this is the first they have ever been this low or dropped this drastically)
These new results have been sent to the NIH as well as her oncologist for consult. So for now we wait. Wait to for other opinions, to find out what testing is next, and for Phoebe to fully recover from the flu. But through it all she stays true to the champion that she is, fighting with a smile.
On the 4th Day of Rare Christmas Phoebe wants you to know...when you are living undiagnosed there seems to be no light at the end of the tunnel. The twists and turns that your health take parallel the "I don't know" answers you get from doctors. Every time something happens...a new symptom appears, an existing symptom worsens, a lab results shows something new, an illness deteriorates your already weakened system...the unnamed conditions plaguing your body get harder to treat. How can you treat a condition when you don't know what the condition is? What if there is more than one condition? Will treatment help for all of them? What treatments will interact with one another? How can you effectively treat symptoms if you don't know how the condition will react to the treatments? Will it make it worse? Will it have no effect at all? The truth is, the honest answer, the only answer, is "I don't know". It's in those "I don't know's" that the light at the end of the tunnel disappears into the dark. Leaving a feeling of hopelessness and fear. Fear of never having a name for the condition(s). Fear of never having effective treatment. Fear of your child not seeing middle school, high school, college. Fear of never being able to protect your child from all the struggles and pain their health is causing them. But even in the darkest feeling of hopelessness there is light. It isn't a light at the end of a tunnel. It's the light in your child's eyes. Just one look into their eyes. That's all it takes. One look and no matter how hopeless things may appear, you remember exactly why you are fighting. Fighting for a name. Fighting for treatments. Fighting so rare and undiagnosed patients don't have to settle for "I don't know" as an answer. You are fighting to make sure there is a light at the end of that tunnel. For your child. For other people's children.
On the 3rd day of Rare Christmas Phoebe wants you to know...fighting infections, even common ones like the cold, are more dangerous when you are living rare. For the past few months, Phoebe's symptoms and flare ups have only gotten worse. Every time she is sick her temperature spikes to over 103 degrees, and despite alternating tylenol and motrin to bring the fever down, it persists, going no lower than 102. And these high fevers are lasting 7 to 10 days. With every one of Phoebe's systems being affected, these long lasting high fevers take a horrible toll on her entire body With high fevers one can experience muscle weakness, elevated heart rate, elevated respiratory rate, and dehydration. Phoebe already has cardiac, respiratory, muscle and hydration issues without these fevers or being sick. So when she gets sick, her regular issues and symptoms become much worse, and at a quicker rate. Typically one will think a fever is the body's proper way of responding to an illness or infection, and Phoebe's fevers are showing a normal response. Unfortunately for Phoebe her body does try to fight infections and illnesses, but her immune system is so compromised that it becomes overwhelmed very easily, and it begins to attack her entire system, not just the illness or infection. Her doctors have described this as "shut down". Her body cannot handle fighting what is making her sick and the effects of the rest of her systems being fought against, that when her body cannot take it anymore it begins to shut down. It is scary and it is dangerous. And it is heartbreaking to know that she is at this risk with each illness and infection she gets. This is why it is so important to remember that what may be "just a cold" to you, is far worse and dangerous to immunocomprised patients.
Phoebe was brought to the emergency room via ambulance early this morning. When she got to the hospital her temperature was 104.1, respirations 32, heart rate 155-163, saturation 94%. They did a Chest xray, labs, and nasal swab. Xray came back ok, and her CBC showed levels indicating an infection (more detailed results are pending). Her nasal swab indicated a culprit! It came back positive for Flu A!
They started IV fluids, and received instruction from her immunologist (her lead doctor) to give her a dose of IV antibiotics and her first dose of Tamiflu. They also alternated motrin and tylenol to help bring down temperature.
With her latest set of vitals showing improvement they consulted again with her immunologist and decided it was safer to discharge her (never an easy call with Phoebe).
We are home now, and she is resting comfortably with me. She has a prescription for Tamiflu, an appointment with the immunologist first thing Saturday morning, and an appointment with the pediatrician tomorrow. Now we begin our round the clock treatment regiments and pray to stay ahead of this so she doesn't have to go back to the hospital.
On the 2nd day of Rare Christmas Phoebe wants you to know...living rare can affect your job. For 8 years I have been the one to navigate this journey with Phoebe. Every doctor, hospital, emergency room, test, treatment, lab draw etc, I have been by her side. Taking her all over the country, fighting for answers, seeking out specialists and researchers hoping they could help us. But for first 6 1/2 years I was a stay at home mom and student. Studying to become a registered nurse while being a nurse/advocate for Phoebe. Now that I am a nurse, working full time, I am still responsible for all of those. Only now I am faced with the constant decision of when to leave Phoebe to go to work and when not to. Is she stable enough that I do not need to be at home, or is she unstable enough that I need to stay with her, always ready. Then there are the times I have to leave work early because Phoebe has gotten so bad so quickly that she needs to be rushed to the hospital. No matter the situation, I know the effect it can have on my job. All I can do is pray that they understand.
On the 1st day of Rare Christmas Phoebe wants you to know...living rare on holidays can look a lot different then they do for others. While Christmas is a holiday that is meant to be full of excitement and energy for kids, for Phoebe her excitement drains her energy very quickly. Leaving her weak and tired shortly after reaching the tree to see what Santa has left for her. Instead of ripping through wrapping paper, Phoebe has to take frequent breaks due to shortness of breath and muscle fatigue. By the time she is opening her last present she is laying on the floor exhausted, wanting to curl up under her blanket for a nap. Because shortness of breath and muscle fatigue are two of the ever present symptoms Phoebe has, we have learned to work around them, making sure Phoebe is a part of as many special memories as possible. One way we do this on Christmas is by taking our matching pj photo first thing in the morning before a single present is touched. Christmas memories are priceless. And though we may get them differently than family's not living rare, we wouldn't trade ours for anything.
PEC (Parents of Exceptional Children) is an organization in our school district that aims to provide the support that families, educators, and community organizations need to help individuals with disabilities reach their full potential. Each year this organization hosts a Christmas party and Santa photos for PEC families. It has become one of our annual traditions for the girls to enjoy this wonderful event. And the Santa photos are always one of my favorite pictures of the season!
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.