Rare Disease Day is 8 days away!! Show how much you #CareAboutRare by going to globalgenes.org/careaboutrare to create your own framed image and #RoarWithPhoebe by sharing it on your social media accounts with #WRDD2017
What's worse than hearing "I don't know" over and over again from doctors? We are now into the 5th year of Phoebe's undiagnosed rare disease battle. We have traveled the country to see doctors in the tops of their fields, sent records and labs to facilities specializing in research, and assembled a team of 16 specialists who work tirelessly on Phoebe's care. Through it all, they have all come back with the phrase "I don't know." It's a gut wrenching feeling to be told that there is something medically wrong with your daughter, potentially multiple disorders, but they have no idea what they are. I didn't think there could be anything that would make me feel more frustrated than that phrase.
I was wrong. I now know what is worse than hearing "I don't know". Complete radio silence.
It has now been 6 months since our trip to the NIH in July. In August they received her genetic raw data to analyze it and said it would take about a month, and from there they would send us vials for a growing list of more tests they wanted to run. The genetics team we saw when we were at the NIH was going to consult with her lead doctor and the lead doctor would then consult with Phoebe's main doctor here in NJ. While we were waiting to hear from them we were to complete any tests we could here at home, including the skeletal survey, bone age test and repeat CT, then send all the results and images down to the lead doctor at the NIH.
We have completed all the tests in NJ that we could, and I have all of the images and reports to send, but how can I send the results down when I email the lead research nurse the beginning of December and still have not gotten a response?!
We have heard nothing about the analysis of Phoebe's genetic raw data, the box of vials for further testing has not been sent to us, and Phoebe's main doctor here has not had a consult with the lead doctor at the NIH.
While I understand the size of the NIH and how vast their number of cases/people that are being researched and cared for, Phoebe is one of those cases. We applied to a program, and were chosen by the NIH because of their interest in Phoebe and her medical mystery. To hear nothing from them, to not even get responses when we call or email them....I'd rather hear "I don't know".
Which is exactly what I stated in the sternly worded email I sent today.
I can say that I did get a response to my email today. And while it did state "My apologies for having not gotten back to you in December. Please know that Phoebe's care is very important to us and we understand you are eager for Dr's input." it also said "Regarding the genetic analysis. That information hasn't been completed yet as far as I know...One month was probably a very poor estimation on my part as Dr's new research nurse. Please be assured that we will make you aware of any new information that we have as soon as possible."
I am not entirely comforted by her words. And while I am prepared to reenter the radio silence yet again, I can assure you it will only be silent because of them. I will not be silent. I will be loud. I will be ROARING. I will be emailing and calling Phoebe's team of doctors daily, researching symptoms and disorders, compiling lists of things we can test for and things we can try to help her, I will be advocating for her and others who are battling rare disease.
Rare Disease Day may officially be the last day of February every year but for my family, and others like mine, it is every day. And it's time to break the silence.
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.
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.