Summerly’s health issues, along with her 22q, include seizures, aspiration, feeding intolerance, reflux, hypocalcemia, lymphopenia and hypoparathyroidism. Her current care team includes her pediatrician, geneticist, plastic surgeon, speech therapist, nutritionist, GI, immunologist, neurologist and endocrinologist.

Although 22q11.2 deletion syndrome is known as a “rare genetic disorder,” it is actually the second most common genetic disorder, after Down syndrome. However, there is still a lack of awareness and information about it.

Although my daughter was diagnosed after birth, I believe she could have been diagnosed prior to birth due to an abnormal prenatal ultrasound. The ultrasound led us to seeing a maternal fetal medicine (MFM) doctor and a genetics specialist. They ultimately ruled the echogenic focus finding on her heart “no concern,” because they were only looking for Down syndrome.

About 1 in 4,000 people are diagnosed with 22q11.2 deletion syndrome. However, medical experts believe this number to be even higher due to people living with this syndrome unknowingly. 22q can affect every system in the human body, with nearly 200 mild to serious symptoms.

I work to raise awareness and provide education about 22q through my website, www.my22qt.com.

The post Summerly’s Rare Journey appeared first on NORD (National Organization for Rare Disorders).

I want others to know that we don’t have answers. I want them to know that a text checking on your family is okay and to not be afraid to ask questions. However, please do not push your thoughts on what you think I need to do for my child. Help uplift and support, not judge.

The idea of health equity is important, because not everyone’s health will be the same. Times change, and so does our health. In time, maybe doctors have more insight to help kids who are rare like Sarah.

Undiagnosed Day takes place on April 29. All diseases were once undiagnosed. Join NORD as we honor the undiagnosed rare disease community throughout the month of April.

The post What the Public Should Know: From the Mother of an Undiagnosed Child appeared first on NORD (National Organization for Rare Disorders).

I suffer from neuromyelitis optica, or NMO disease (sister of MS, also known as Devic syndrome) and chronic pain. I experienced my first attack in the summer and now am in the thick of my second one (a relapse), and was officially diagnosed in October with NMO.

NMO has made me half-blind (hopeful for my eyesight to come back) and suffer from nerve pain and body pain, among a lot of other symptoms. I start treatment in two weeks and have to stay on IV infusions every two weeks for the rest of my life. It has changed my ability to work as a teacher.

NMO currently has one FDA approved treatment and others coming out soon. But after every attack or relapse, it worsens the central nervous system. This disease needs more awareness as it is similar to MS but does not have as much exposure, societies, or foundations. Blind “Master Chef” winner Christine Ha (one of Gordon Ramsey’s favorites) actually went blind due to this disease. She’s helped put NMO on the map more.

The chronic illness community is tired of the pressure of “showing up” and it’s time we are heard. Chronic pain affects more than 1.5 billion humans worldwide and people need to hear what it’s truly like to live with it in order to create a more empathetic view. The chronic illness community wants to be heard and not overlooked and the rare disease community needs more awareness. People are suffering and NMO disease among other rare diseases can be fatal and debilitating.

I want others to know that’s it’s OK to put yourself and your health first when you’re suffering. The article I’ve written about my personal story can be read here:  https://savannahwall.wordpress.com/2019/11/01/chronic-pain-im-done-apologizing-for-not-showing-up/

The post Savannah’s Story in honor of Rare Disease Day appeared first on NORD (National Organization for Rare Disorders).

I was diagnosed with afibrinogenemia when I was just one day old. The day I was born my heel sticks would not stop bleeding, which immediately had the delivering doctor puzzled. I was then rushed to a different hospital, four hours away, where there were specialists that could figure out what was wrong. Being so very rare, this type of bleeding disorder was something that some of the hematologists and most physicians had not heard of before. My parents were informed within a few days of my diagnosis that I might not be able to live a very long life because my body does not produce fibrinogen. At 24 years old, I am still alive, and it has now been proven that you can, in fact, live without fibrinogen. I live my life to the absolute fullest, and plan on continuing to do so for the rest of my life.

When I was younger, I was able to play softball and tennis with minor injuries. In high school, I was captain of my varsity volleyball team and played on the junior Olympic volleyball team. Due to a volleyball injury, a pulled groin muscle turned into a four and a half month internal bleed, which lead to missed school and a lot of needle pokes for infusions. Most recently, I made the decision to start a prophylactic treatment for my bleeding disorder, but unfortunately my veins are unable to handle the weekly treatments, so I underwent surgery to receive a port. The port placement was not the simplest, which then led to several additional health concerns, with micro bleeds in my neck and issues with the placement itself. However, I am determined to get this figured out so I can continue with my prophylactic schedule, and learn to infuse myself in the comfort of my own home. All of the bruises, sprained fingers, spontaneous muscle bleeds, and hospital and clinic visits have really shaped me into the person I am today. Yes, it would be great to not have a bleeding disorder, but it is something that I have really grown to love about myself. I am proud of the person that I am, knowing everything that I have overcome, and the strength that I have gained along the way.

As this is a lifelong disease, I hope that one day there will be a cure, or better treatment options. Right now, the IV infusion that I receive for my bleeding disorder takes upwards of two hours to administer. If there could be easier ways to get this dose, especially in a shorter amount of time, or if the half-life of the medication could be longer, it would be quite beneficial to not only my life but to everyone else in the world affected by this bleeding disorder.

I share my story to try to show others with the same disorder as me or any type of chronic illness that it is possible to get through the difficult times, as long as you stay positive and optimistic. I want to inspire others and let them know that they are not alone with their struggles. My bleeding disorder has influenced my career path in life, where the desire to help others started for me at a young age, due to others helping me with health concerns relating to my own bleeding disorder. I graduated in 2017 from the University of Maine, with my Bachelor’s Degree in Abnormal Social Psychology and a double minor in English and Child Development/Family Relations. After graduating with my undergraduate degree, I started graduate school, where I am currently working on my Master’s Degree in Health Psychology. Once I graduate this coming year I will continue on to get my PhD in Health Psychology, with the goal of eventually being a health psychologist, where I will work within the bleeding disorder community to help the affected understand their condition and how to cope with it.

The post Bridget’s Story in honor of Rare Disease Day appeared first on NORD (National Organization for Rare Disorders).

I was diagnosed with primary immunodeficiency when I was four years old. With primary immunodeficiency, the assumption is that “it’s just an infection” or that it’s normal because “kids get sick.” The problem was that I was never getting better and was fighting for my life every time I was sick. It took countless life threatening infections and misdiagnoses before my pediatrician heard the hoofbeats of another infection and realized he was hearing a zebra and not a horse. After getting diagnosed, I then started a treatment called IVIG. With treatment and continued check ups, the outcome of my disease is very positive and I manage to live a semi-normal life. My treatment is in no way easy and comes with a list of side effects but I’m so incredibly thankful to even be getting a treatment that keeps me out of the hospital.

However, receiving a diagnosis with a rare disease is only half the battle. All throughout my life I have struggled with feeling alone, misconceptions regarding my disease, and anxieties regarding the future that come with having a rare disease. Being rare was always something I was proud of and I have always felt very comfortable with discussing my disease and story. What I struggled with the most growing up with a rare disease was loneliness. I was not like other children and spent a majority of my childhood in a hospital or doctor’s offices. I didn’t meet anyone with my disease until I was around 12 years old. I still remember the excitement I had when I finally met someone that understood how hard treatments were and sympathized with my battle with my disease. Although I have kept in contact with many individuals with my disease, it’s hard to not feel alone sometimes and can be frustrating when many around you can’t relate or understand what I am going through when I’m having a hard time. My next struggle with having a rare disease is the many misconceptions regarding my disease. Misconceptions that have presented in the past include rumors that I have acquired immunodeficiency syndrome, doctors questioning whether I’m confusing primary immunodeficiency with autoimmune deficiency, and choosing not to get vaccinated as a personal choice even though my body does not produce memory immune cells and does not make a healthy immune system. This means that vaccinations could be more harmful than helpful in my case.

It is very frustrating that most misconceptions regarding my disease are from health care professionals. My worst and most current experience regarding health care and my disease was when I was hospitalized for a blood infection. The infectious disease doctor who was treating me was not educated on my disease and was convinced that he would be able to cure me from the immunodeficiency by giving me a vaccine. Not only was I frustrated that I was being treated like a science experiment while I was sick, I felt hurt by the false hope that he was trying to persuade me of. Having grown up in a hospital setting, I have found a passion for medicine. I am currently almost finished with my first year of pharmacy school at Midwestern University-Glendale.

Moving forward, I want to advocate as much as I can to health care professionals regarding rare disease with the hopes that these experiences and misconceptions lessen. In addition to these misconceptions and loneliness, having a rare disease means often means having many anxieties regarding the future and the unknowns of the disease. I fear getting another infection while in pharmacy school. I fear not having access to my life-saving and expensive medication that keeps me healthy. However, being able to advocate for myself and having a support system such as NORD lessens those fearful thoughts. There’s nothing more motivating than knowing I have a herd of zebras, all with unique stripes and stories, behind me for support and encouragement.

The post Ashlee’s Story in honor of Rare Disease Day appeared first on NORD (National Organization for Rare Disorders).