Phoebe, as a Jack's Kid, got to throw out a first pitch at the Softball Tournament this year. The love, support, encouragement, and friendship Phoebe and our family receives from the entire Jack's Kids family is truly a blessing beyond words. We are honored to be a part of such an amazing organization and encourage everyone to learn more about the amazing things the selfless volunteers of Jack's Kids do for the kids and their families by visiting their website at https://jackskids.org/
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.
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.