On the 11th Day of Rare Christmas Phoebe wants you to know....please be aware of your facial expressions, comments and questions. They can really hurt someone. They can distort the self image these beautiful, brave fighters see when they look in the mirror. Phoebe has seen and heard many not so nice comments, questions and facial expressions about how she looks, how she talks, how she moves, how she breathes, how she uses inhalers, how she has to take frequent breaks, how she has to wear a mask...etc, etc. And seeing the expressions, hearing the comments has greatly affected the way Phoebe sees herself. I was most recently reminded of just how much it distorts Phoebe's self image when I was braiding her hair in front of our bathroom mirror. She was standing in front of me in my bathroom as we laughed and joked together about funny things that had happened that morning when she wanted to look at our reflections in the mirror to see how her hair was looking. In that split second that she looked at herself in the mirror her smile faded. I could see the sadness in her eyes as she looked at her face and neck. Her lymph nodes, always swollen, were prominent with the illnesses she has been fighting. Both sides of her neck, no matter where her eyes looked she saw these growing nodes. Her face, always slightly disproportionate, was so swollen that the disproportion was highly noticeable. The right side of her face was more larger than the left, giving her eyes the appearance of being uneven. As her sadness from what she was seeing grew, she hung her head. It was as though she was replaying comments, questions and facial expressions in her mind as she looked at herself in that mirror. Now Phoebe has asked me before "Mommy, why am I not pretty?", and in that moment when she hung her head I didn't give her a chance to ask me that question again. I immediately told her "Phoebe, you are perfect in every way, just the way you are. You are as beautiful as a princess. And not just on the outside, but on the inside too. You are kind, loving, talented, an amazing sister/friend, and I am the luckiest mommy in the world because you are my daughter." As I was saying these words to Phoebe, she didn't crack a smile. All she could do was look at me, because her heart still hurt. It's those moments, like Phoebe and I experienced while braiding her hair, that I hope inspire others to be aware of things they say or ask, and their facial expressions. Too often we all make the mistake of thinking we cannot be heard, seen or understood with what we are saying or facial expressions we are making. But the truth is, more often than not we are heard or seen. And words as well as facial expressions can hurt, very deeply.
On the 10th day of Rare Christmas Phoebe wants you to know....sometimes no matter how hard you try, some things cannot be avoided. With Phoebe being diagnosed with the flu a week ago the doctors were concerned it would progress into her lungs. The thing is, every time Phoebe gets sick it goes straight to her lungs. Her history of hyperplasia and middle lobe atelectasis put her at an increased risk of experiencing lung difficulties and collapses when an illness spreads. Knowing this we, along with her doctors, always try our best to avoid her lungs becoming affected during an infection. When Phoebe was diagnosed with the flu the hope was by starting frequent round the clock nebulizer treatments for her already increased work of breathing and lower than desired saturation level, alternating tylenol and motrin to control her higher than normal temperature, on top of taking Tamiflu for the flu that we would be able to stay in front of this to prevent her lungs from becoming affected. Unfortunately, we were unable to make that a reality. Today at Phoebe's check up to see how she is recovering from the flu the pediatrician heard crackles and wheezes in both lower lobes. Bronchitis. Phoebe, having finished her Tamiflu, was immediately started on an antibiotic and her nebulizer treatments, which had started to be decreased, were readjusted to help support her bronchitis battle. From the moment Phoebe got sick last week to the moment we walked into that pediatrician's office today, we had done everything we could to help Phoebe recover from the flu without getting a secondary infection. But Phoebe's immune system is just too weak.
On the 9th Day of Christmas Phoebe wants you to know...going to school can be challenging. Enrolling your child in school is supposed to be an exciting time for any parent. Your little baby is finally old enough to enter school, ride the school bus, go on field trips, participate in class parties and experience all the milestones that come with being in elementary school. But living with rare undiagnosed diseases makes going to school, participating in these activities and experiencing this excitement challenging. For Phoebe, navigating public school has proven to difficult to say the least. When she began her journey in our school district we knew she was going to need certain services. For transportation Phoebe needs to ride a certain school bus that has air conditioning and heating that helps her regulate her body temperature. Having her take this bus also helps with her breathing during the hot/humid and really cold/frigid days throughout the school year. During Phoebe's school day she has temperature guidelines for when she can go outside that also help assist with these things. If the temperature is above or below a set temperature she is able to stay within the school and rest. Other modifications that Phoebe gets while being in school have included an abbreviated length of day, the ability to use the elevator when she is having pain/difficulty walking, having assistance walking the long hallways, ensuring bathrooms as close by with easy access, not participating in gym and certain recess activities due to her muscle and lung issues, and having built in breaks throughout the day. We also have accommodations she needs in place to be able to attend field trips with her class. With having services like these it could be easy to ask "What challenges are you facing with school?". The first answer is we do not have a diagnosis. Therefore the school board fights and argues about these services and how we receive them. Often times it comes across as a because you do not have a name of a disease that can researched to prove what you are saying, why should we provide these for you. The countless letters from doctors, recommendations from doctors, conversations with doctors, two page list of symptoms, and copies of pertinent medical history have not been enough to ease the challenges we continue to face. The second answer is Phoebe so desperately wants to fit in with her classmates and be able to do things that they do that she always seems happy in school. Because being in school with her classmates makes her feel (sometimes) that she is one of them. The excitement of being able to attend school and participate in the things she is able to is why Phoebe pushes herself in school. In her mind, if she pushes herself she will be able to do more. No matter if she is hurting or not feeling well. This becomes a challenge because she doesn't tell her teachers when she isn't feeling well or when she is pain. She is scared that she will miss something or have an activity taken away from her. She suffers silently. But by suffering silently she is being viewed as a child who can handle all the events and activities of the day. And things with her health and body can be easily missed this way. While facing these challenges I cannot help but think to the years to come. If we are having difficulty now, what will we face in the much larger middle school or massive high school? With only being in second grade middle school is a long way off. But from what these challenges have taught me, it is better to begin thinking about these things now than waiting and scrambling when she is in fifth grade.
Photos: First Days of School for Kindergarten, 1st and 2nd Grades
On the 8th Day of Rare Christmas Phoebe wants you to know....February 24-February 28th is Rare Disease Week on Capitol Hill. What is Rare Disease Week? It is a week where patients, caregivers and advocates come together to give Rare Diseases a voice with Legislatures. Rare Disease Legislature Advocates Website states "Rare Disease Week on Capitol Hill brings rare disease community members from across the country together to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators. All events are free for patients, caregivers and other advocates but advance registration is required for each event." Though we have not been able to attend Rare Disease Week in person, we have sent Phoebe's story down with advocates to be shared with legislators. If you are interested in learning more about Rare Disease Week on Capitol Hill, you can visit https://rareadvocates.org/rdw/. On this site you can read about the schedule of events for the week, as well as register to attend.
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.
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.