โบนัสฟรี 500 2019_ห้ามเล่นการพนัน ภาษาอังกฤษ_slot machine online _เล่นสล็อตฟรีได้เงินจริง_สโบเบ็ต https://www.google.com/https://rarediseases.org Alone we are Rare. Together we are Strong. Thu, 21 Feb 2019 17:32:11 +0000 en-US hourly 1 https://wordpress.org/?v=5.0.3 Rare Disease Day is a Global Movement https://www.google.com/https://rarediseases.org/rare-disease-day-is-a-global-movement/ Wed, 13 Feb 2019 16:07:47 +0000 https://rarediseases.org/?p=37426 NORD marks 10 years as official U.S. Rare Disease Day sponsor Since the Rare Disease Day campaign was first launched internationally by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place across the world, reaching hundreds of thousands of people and resulting in extensive media coverage and growing public Read more >

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NORD marks 10 years as official U.S. Rare Disease Day sponsor

Since the Rare Disease Day campaign was first launched internationally by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place across the world, reaching hundreds of thousands of people and resulting in extensive media coverage and growing public awareness. This year, NORD is proud to celebrate its tenth anniversary as the official sponsor of Rare Disease Day in the United States.

Each year, Eurordis releases a video as part of their Rare Disease Day tool kit. Make a mark for both the #ShowYourRare and #ShowYourStripes challenges with striped face paint!

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India’s Story in Honor of Rare Disease Day https://www.google.com/https://rarediseases.org/indias-story-honor-rare-disease-day/ Tue, 12 Feb 2019 18:43:52 +0000 https://rarediseases.org/?p=37369 The following story was submitted by Sarah Stuker in honor of Rare Disease Day. In this story, Sarah shares her family’s journey of searching for and receiving a diagnosis for their daughter, India, of Spinocerebellar Ataxia.? Share your story for Rare Disease Day here. This story is about our little girl, India, who will be Read more >

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The following story was submitted by Sarah Stuker in honor of Rare Disease Day. In this story, Sarah shares her family’s journey of searching for and receiving a diagnosis for their daughter, India, of Spinocerebellar Ataxia.?

Share your story for Rare Disease Day here.


This story is about our little girl, India, who will be two years old in March. Very early on she was developmentally delayed. Over a period of about one?year, she was diagnosed with global developmental delay, strabismus, dysarthria, ataxia and hypotonia. Eventually, our daughter’s neurologist wanted to do a genetic test. What we found was what we never expected: a diagnosis of a very special case of Spinocerebellar Ataxia. Usually the onset of this disease is much later in life and it is inherited. Unfortunately, India’s was a very random de novo mutation and onset for her was very early on. It’s scary because not only do we not know a lot about this disease but neither do very many others. Our hearts break not only for India, but for everyone suffering from this awful condition.

Overall the experience of our journey has felt like a blindfolded walk in the dark. We don’t know what we’re doing yet, or where we’re going and there are so many unknowns! While we live in a state with very few resources or expertise on conditions like this, we have been blessed to have attentive physical and occupational therapists, a great pediatrician and an awesome neurologist who are all working together to help her the best they can. Still, in order to get the best?treatment possible, we are moving out of state soon to be closer to specialists for her.

We have great days and then we have days where it’s difficult not to cry each time she falls down or hurts herself for no reason at all. It just doesn’t seem fair that someone as sweet and little as her has to deal with this. It was a long road with a lot of testing to get a diagnosis, but we understand how many people wait so much longer than we did. For that, we feel fortunate. At least we know. However, we don’t know what India’s future holds and we don’t know what this awful disease will do. What we do know is that we are hopeful that with the right therapies, encouragement and constant reminders that she is unstoppable, her future will be bright despite this disease. We hope and pray that someday there will be a cure for Spinocerebellar Ataxia, or at the very least an effective treatment.

Rare Disease Day is important to myself and my family because before our journey began, we had no idea how many rare diseases were being ignored and going untreated. We plan on getting involved by spreading the word as much as possible! We want to tell as many people as we can about NORD and Rare Disease Day, and we are hoping to raise awareness so that no one has to go through it alone anymore.

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McCarthy Story in Honor of Rare Disease Day https://www.google.com/https://rarediseases.org/mccarthy-story-in-honor-of-rare-disease-day/ Tue, 12 Feb 2019 17:30:37 +0000 https://rarediseases.org/?p=37360 The following story was submitted by Lindsey McCarthy in honor of Rare Disease Day. In this story, Lindsey shares her family’s journey of receiving a diagnosis for their son, James, of a CNTNAP1 mutation. Read on to learn how the McCarthy’s have worked to find other families who are affected by this particular gene mutation Read more >

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The following story was submitted by Lindsey McCarthy in honor of Rare Disease Day. In this story, Lindsey shares her family’s journey of receiving a diagnosis for their son, James, of a CNTNAP1 mutation. Read on to learn how the McCarthy’s have worked to find other families who are affected by this particular gene mutation and how Lindsey grew inspired to offer the same type of support for others who are affected.

Share your story for Rare Disease Day here.


My son, James, was born with an ultra-rare genetic disorder of the CNTAP1 gene at our local hospital but was quickly transferred to a children’s hospital about thirty minutes away. At the time, we didn’t know what was wrong with him, or why he couldn’t breathe on his own. We found out his diagnosis on Valentine’s Day, 2018, a little over a month after he was born and two weeks from being discharged from the NICU.?He recently turned one and has outlived the life expectancy of children born with this disorder.

Because of this genetic mutation, James’ brain has a hard time communicating with his muscles. His vocal cords are paralyzed, he has very low muscle tone, eats through a gastronomy tube and breathes through a tracheostomy tube in his neck. He has physical therapy, occupational therapy and feeding therapy weekly, along with doctor’s and specialists’ appointments. I quit my job as a 4th-grade teacher so that I can be there to support and learn about my son as much as possible. Little by little, we see some improvements in his abilities, but other days are more of a struggle. He recently started smiling for the first time and is able to move his arms and legs at times, and his doctors and therapists are excited to see growth in his abilities. Although the growth is small, we choose to celebrate every “inch-stone” we can. Most of our doctors are very supportive of our journey and are very intrigued by James because this is the first child that any of them have met with the CNTNAP1 mutation. In fact, our doctors didn’t know anything about the CNTNAP1 mutation until meeting James. We teach them what we know, and they continue to learn from my son.

Unfortunately, we don’t know much about what James’ future looks like. We are currently working with a researcher out of Boston Children’s Hospital who has already started the process of finding a cure through gene therapy. The oldest child that I have found in my research with this disorder is 12 years old. I’m hoping that with research we can find a cure for my son, and the other children with this horrible genetic mutation. Until then, we will continue with James’ therapies daily and celebrate each day that we have with him and continue to support him with each inch-stone he continues to make.

Rare Disease Day is important to my family because it is important for people to be aware of rare diseases. My husband and I didn’t know that we were both recessive carriers of this genetic mutation until our beautiful son was born. Now that we know, we’d like to find other families who have this rare disorder so that we can support each other. Having a baby, or a child, with such a debilitating disorder, is challenging but having support from people who are also going through it has helped my family tremendously. We have learned so much from the four other families that I have found. I hope to offer the same support to other families I know are out there.

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Apellis Pharmaceuticals Recognizes Rare Disease Day https://www.google.com/https://rarediseases.org/apellis-pharmaceuticals-recognizes-rare-disease-day/ Mon, 11 Feb 2019 20:46:39 +0000 https://rarediseases.org/?p=37390 Apellis Pharmaceuticals is a clinical-stage biopharmaceutical company focused on the development of novel therapeutic compounds for the treatment of a broad range of life-threatening or debilitating rare diseases through the inhibition of the complement system at the level of C3. Apellis was founded in 2008 with a dedicated focus to boldly control C3, and isเว็บ บอล ฟรี เครดิต Read more >

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Apellis Pharmaceuticals is a clinical-stage biopharmaceutical company focused on the development of novel therapeutic compounds for the treatment of a broad range of life-threatening or debilitating rare diseases through the inhibition of the complement system at the level of C3. Apellis was founded in 2008 with a dedicated focus to boldly control C3, and is the first company to advance chronic therapy with a C3 inhibitor into clinical trials.

Apellis is committed to improving the lives of patients impacted by rare diseases and will proudly be showing its stripes all month and on Rare Disease Day 2019, February 28.

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Ana’s Story for Rare Disease Day https://www.google.com/https://rarediseases.org/anas-story-for-rare-disease-day/ Fri, 08 Feb 2019 17:37:38 +0000 https://rarediseases.org/?p=37308 The following story was submitted by Danika Amott in honor of Rare Disease Day. In this story, Danika shares her family’s journey of receiving a 17q24.2-17q24.3 unnamed deletion and Carney Complex diagnosis for their daughter, Ana.? Share your story for Rare Disease Day here. We met five pound, six-week-old Ana in the hospital where she Read more >

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The following story was submitted by Danika Amott in honor of Rare Disease Day. In this story, Danika shares her family’s journey of receiving a 17q24.2-17q24.3 unnamed deletion and
Carney Complex diagnosis for their daughter, Ana.?

Share your story for Rare Disease Day here.


We met five pound, six-week-old Ana in the hospital where she was recovering from pneumonia and a staph infection in the brain at 2 weeks old. 17q24.2-17q24.3 deletion includes many unknowns. The deleted PRKAR1A section that causes Carney Complex, affecting 750 other people, has been researched to pinpoint a few major symptoms. They include heart tumors, sudden death or stroke, and tumors on endocrine organs and all other areas of the body. Adrenal tumors cause PPNAD and then when removed, Addison’s disease. High levels of cortisol from adrenal tumors cause Cushing’s disease and others. Tumors have a tendency to regrow, making this truly a lifetime disease. Scans and blood work are life-saving for people with Carney Complex. Ana is frequently in to make sure her heart is clear. Endocrine tumors cause her to have high cortisol which affects her sleep and behavior.?

We were told initially that Ana was the only person with her gene deletion. However, after creating a Facebook group, we found 10 others with similar deletions. Almost all have intellectual disabilities, food avoidance and/or feeding tubes. Her deleted gene segments also affect dental and mental health systems and many other seemingly random issues.

Although Ana has some learning disabilities, she is extremely bright. When she started refusing food and losing weight we saw an allergist for her “itchy throat,” and we officially discovered her allergies. Interestingly, as we have discovered and removed more and more allergens, so many of her mental health issues went away. This was a huge concern to us because her birth mother, who has the same deletion, was diagnosed with schizophrenia, among other mental illnesses, and is intellectually disabled.

All Ana wants is to share her enthusiasm for life and to “be normal.” Her extremely short stature has been the?cause for many meltdowns as kids tease her. Because of her learning disabilities and many allergies, we tried homeschooling for a couple of years and while she caught up in math and finally learned to read, she really missed school.

We have been so blessed to be accepted to a charter that has a no food policy. This means no food rewards from teachers, rogue treats from parents, etc. It has been a long time trigger to see others get food that she can’t have, so this small change has been amazing for her. I have to cook almost everything from scratch so keeping something in a cupboard at school or church just doesn’t work with a few packaged foods available. Imagine having to watch others eat fluffy frosted cupcakes, donuts and candy while you get an apple offered multiple times a day or worse, “just ask your mom when you get home.” Now that school is covered, we are down to church and weekly church activities for the majority of emotional food worry.

Ana goes to the NIH for a study on Carney Complex, which has no cure but we are always hopeful. There are no studies or doctors for the rest of the deletion. At the NIH, Ana has had the pleasure of meeting a few other Carney Complex patients. There is an amazing benefit to knowing someone else who is dealing with the same thing as you. These young kids do such a great job at living their lives, but what we often don’t see in public are the tears that they shed over their friends and their fears. Last year, two of the dear friends she met at NIH passed on, both from cancer. She got to know her “best Carney Complex friend that is my age at NIH” and it was a hard hit to find that she had already had heart surgery to remove a tumor. Previously the literature on Carney Complex said tumors happened after age 22. We still deal with doctors who think that she doesn’t need scans because she’s too young, when from our Facebook group we know that there have been several young children with tumors, strokes or sudden death.

Mourning the life that you think you should be able to live and can’t is a tough thing. Seeing food everywhere that you can’t have; wondering how long you will live; the sleepless fear when you find out that your best Carney friend your age had another heart tumor and surgery only a year from her first; panicking when your chest hurts because you think you’re going to be incapacitated by a stroke or die suddenly; hearing the doctors talk right in front of you about the chances of death by tumor or food allergy; listening to the other doctor yell at your mom because he thinks you need to eat the allergens so you don’t lose weight, then another the same week saying don’t eat them or you’ll die – it is all very hard.

Wanting to be excited about growing an inch but worrying because the doctor said sudden growth spurts could be acromegaly; listening to a doctor telling mom you must be making up your migraines and blurry vision because you want to get out of school, that you’re making up chest pain to get attention; another doctor directing you to go to the ER if you have chest pain so you’re hyper-aware of any chest pain; being intellectually able enough to absorb every single thing that anyone says about you or your disease; therapists, therapists, therapists; being the one to be blamed first all the time because of previous behaviors and other people knowing how to be quietly mean when you are never quiet; being in constant anxiety for meeting new friends in the rare disease community because you don’t know if they will die even though you really love being friends since they “get it” – all part of life with Carney Complex, gene deletions, food allergies and rare disease.

This is why we choose to celebrate Rare Disease Day in 2019. Awareness brings understanding from others and, by getting Ana’s diseases out there, we have a better chance of finding others in a similar circumstance who feel alone, who were also told, “you are the only one.”As more people know about her particular rare disease, we have a better chance of someone picking it up for a study. It’s 2019. It’s time for inclusion. It’s time for empathy. It’s time for a cure.

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