On the 12th day of #RareChristmas Phoebe wants you to know....Rare Disease Day is February 28, 2017. "The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign...seeks to raise awareness amongst policy makers, public authorities, industry representitives, researchers, health professionals..." The impact of raising awareness for these diseases was particularly felt on December 23, 2016. On that day the FDA approved the FIRST treatment for SMA (Spinal Muscular Atrophy). This milestone is why we fight. Many children were no longer with us when this drug was approved. Hopefully those who are still suffering and those who will be diagnosed with this devastating disease can benefit from this now approved drug. This is only the beginning. Over 95% of rare diseases have no treatment. By raising awareness, the hope is to reduce that percentage, giving more children a better quality of life. Please consider becoming an advocate, a voice for the rare disease commnunity. Visit globalgenes.org, rarediseaseday.org and/or rarediseases.org to learn more #12DaysofRareChristmas #RoarWithPhoebe
On the 11th day of #RareChristmas Phoebe wants you to know....that there are not a lot of support groups designated for patients living with rare disease, especially if you are undiagnosed. It's not like other disases and disorders which have support groups for the patient, parents and even siblings. But even if there are not organized support groups for your rare disease, if you look around you you will see you have an amazing support system....your family and friends. They are fighting right along side of you. The people who love you will be the soft place you can fall on your bad days. Giving you strength when you feel weak, encouragement when you feel defeated and comfort when you need to fall apart. The people you love will also be there to help you enjoy every moment of your good days. Making cherished memories by celebrating every milestone, participating in holiday traditions, getting to go on day trips to your favorite places, and enjoying time together on play dates filled with laughter. Phoebe and our family have been so blessed by the love and support of our family and friends. Living in world where she feels so different a lot of the time, it is because of them she feels a sense of normalcy and fitting in. For that, we will be forever grateful.
On the 10th day of #RareChristmas Phoebe wants you to know....it is hard to stay positive when you are battling rare disase. We are now in the 5th year of Phoebe's battle as an undiagnosed rare disease patient. She has watched her older two sisters go through elementary school, getting to experience school events, recess, art class, music class, gym, after school activities, field day and more. And just as any little sister does, she has looked forward to one day being old enough to go to their school and do all the things they were getting to do. But Phoebe is not able to do all the things that her sisters were able to do. Perhaps the hardest part for her is that she is aware that her body will not let her do all things she wants to do, that she has watched her sisters and now classmates do. And the longer she goes through this, the more aware of her differences and the fragility of her health she becomes.. It is not easy to stay positive when you are always going to doctors or hospitals and nothing ever changes, you still feel the same way you did when this all first began. #12DaysofRareChristmas.
On the 9th day of #RareChristmas Phoebe wants you to know...living rare means never losing your voice. When you are living with rare disease or caring for someone who has rare disease, you will find you have to explain yourself.....a lot. You have to explain to the doctors what daily life looks like for you/them. You find yourself fighting to keep from yelling because symptoms, patterns, behaviors, emotional breaks are all too often dismissed or overlooked. You are constantly having to bring things to their attention, trying to make them take your concerns seriously, praying if they finally hear you something can be done to help. It can easily feel like you are losing your voice. But remember, at the end of the day it is you, not the doctors, who is living, eating, breathing, sleeping rare...24/7/365. It is you who knows what is your/their normal and what is not. Never lose your voice. Speak up. Be heard. #Roar! #12DaysofRareChristmas
On the 8th day of #RareChristmas Phoebe wants you to know...families affected by rare disease have the same hopes for the new year each and every year. Hope for treatments. Hope for diagnoses. Hope for answers. Hope for cures. Hope for more research. Hope for more identification and naming of diseases. Hope for more awareness. Hope that this year sees more laughter and fun than doctors and hospitals. Hope that limitations can be lessened and experiences can be gained. No matter what this year will bring, we will continue to fight for all of these things. By never giving up the fight, we hope on New Years Day we won't just be hoping, instead we will be celebrating that they happened! #12DaysofRareChristmas
On the 7th day of #RareChristmas Phoebe wants you to know...just because you have never heard of a disease, does not mean it does not exist. We have faced, multiple times, doctors from our insurance company tell Phoebe's specialists "I have never heard of that, therefore it does not exist." This mindset has resulted in denial of coverage for testing Phoebe has needed. There are diseases that have names today that less than a decade ago were only known by a group of symptoms and a research code. There is more information about some diseases today than there was fifty years ago. Not every doctor is going to know about rare disease or even have heard of some the names of rare diseases. But to tell a family something does not exist simply because you have never heard of it, goes against the oath you took as a doctor. These diseases do exist. And these patients, who are fighting battles you could not even begin to imagine, deserve to have the same access to care, treatment and testing as those who suffer from diseases you have heard of. #12DaysofRareChristmas
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.
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.