Today is Rare Disease Day. A day to raise your voice for the rare and undiagnosed community. A day to bring awareness to these incredibly brave, resilient, amazing patients who face "I don't knows" from their doctors. Today is a day for them to show their stripes. And for us to join them in showing that alone they may be rare, but together....we are strong!
On the 12th Day of Rare Christmas Phoebe wants you to know...12 things about Rare Disease.
1) There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day 2) 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population 3) If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country 4) In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease 5) 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear 6) Approximately 50% of the people affected by rare diseases are children 7) 30% of children with rare disease will not live to see their 5th birthday 8) Rare diseases are responsible for 35% of deaths in the first year of life 9) The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases 10) According to the Kakkis Every Life Foundation 95% of rare diseases have not one single FDA approved drug treatment 11) Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease 12) The zebra, with its distinctive stripes, is the official symbol of rare diseases in the United States. To learn more or get involved in raising awareness for rare disease you can go to Global Genes website at https://globalgenes.org/rare-diseases-facts-statistics/ or National Organizations for Rare Disorders website at https://rarediseases.org/ 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 |
AuthorThe 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. Archives
June 2021
Categories |