My husband and I were overjoyed when our oldest son Andryusha was born. We had taken my pregnancy very seriously and our baby seemed perfectly healthy when we first brought him home from the hospital. However, by the time he was about three months old, his near constant crying, poor sleep habits, difficulties with eating and muscle weakness caused alarm among his doctors. It took seven years and countless hospital visits, blood tests and examinations before doctors near our home in Kyiv, Ukraine were able to definitively diagnose him with a rare neurological condition called GRIN2B disorder.

We felt confused and helpless once we finally had Andryusha's diagnosis. We learned that GRIN2B disorder is characterized by low muscle tone, seizures, and delays in speech and development. Since there were no other children in Ukraine with the condition, doctors could not answer our questions or provide us with any recommendations on how we could best care for our son. We held on to hope by working tirelessly to provide Andryusha with the resources he needed to be as happy and healthy as possible.

Before the war in Ukraine erupted, we spent much of our time traveling to therapy centers across the country. He participated in motor skill development activities, acupuncture therapy, equine therapy, and even dolphin therapy. While there are currently no approved treatments for GRIN2B disorder, these efforts helped him maintain his strength and improved his quality of life in small steps.

The progress we were beginning to see was halted once the war began, making it impossible to access the resources he desperately needed. There were days we couldn't leave the house and while we were reluctant to leave our hometown of Kyiv, it soon became obvious that we would need to relocate to another country to save our two sons' lives.

Shortly after the start of the war, we were relieved to hear from members of the global GRIN2B community, who helped coordinate a plan to help us leave Ukraine. Leaders of the GRIN2B Foundation and GRIN Therapeutics ensured that we were picked up by a driver and brought safely to the Ukrainian-Polish border. I will never stop thanking them for helping to save our family.

After we left Ukraine, the GRIN2B community helped us to move into a stable housing environment in Barcelona. Since settling in, we were able to meet with a doctor who works with other patients with GRIN2B disorder who was able to provide us with access to medications and supportive therapy that Andryusha needs. For the first time in his life, he is now able to go to a special school. In fact, one of his classmates has the same condition that he has. She is the first person we have met who also has GRIN2B disorder.

While the last two years have been extremely difficult, one thing has stayed consistent: our hope that a treatment will become available to Andryusha during his lifetime, especially as further research of GRIN disorders continues to progress.

The phone rang. Shrill and persistent as it echoed through our house. I heard my Dad's voice as he shared the news that had arrived in the mailbox at the end of our gravel driveway earlier that day. His tone made me crane my head to listen. I figured out my grandmother must be on the other end of the line, but from the desk in my bedroom, I couldn't decipher why he was talking about results and genetics. Or what any of it had to do with my grandmother and her two sisters having ovarian cancer in the 1980s.

Later that evening, he sat my sister and I down in the living room and told us that he and other members of our family were one of the first 10 families in Canada studied for the BRCA1 gene mutation. That day, he got the results confirming that he was a carrier. A carrier? A mutation? He went on to talk about my aunt with breast cancer and the news my second cousin had been diagnosed with breast cancer at only 27 years old. My teenage brain grappled with what this all meant. I studied his pursed lips and the grave expression on his face as he apologized and said he may have passed down an inheritance neither of us wanted.

"I want you both to get tested when you're 19. We need to get ahead of this thing," he said. It all seemed a little abstract to me as I asked to be excused to study for my biology test the next day.

Fast forward a couple of years. My sister flew in to see me on a rainy weekend in the fall of '99. Instead of gossiping about boys or trading stories about our college adventures, we drove two hours, through low cloud and sleet, to sit across from a genetics counselor who asked us questions like, "how will you feel if one of you has the marker and one of you doesn't?"

I didn't like her. Or the brown carpet stretched up a foot or two onto the walls where crown moldings should be. Or the way the counseling process seemed to last an eternity. I just wanted the results I knew were there — inside the file on her desk. The office felt claustrophobic and my palms began to sweat.

In retrospect, I knew she was only doing her job and trying to prepare me. But at the time — in spite of her kindness — I channeled the anger I couldn't feel at my Dad's family or the universe directly across the desk at her.

I can't remember if she gave us the results together or separately. I just remember the shock, my numb responses, the onslaught of words coming out of her mouth like "screening" and "prophylactic mastectomy." When she finally stopped talking, my legs nearly gave out from pins and needles, but I stood up, pasted on a smile, and robotically thanked her for her time.

As we drove back through the corridor of grey skies, I remember looking over at my sister and saying, "I'm glad it's me, not you. Don't worry, I'll be fine."

For the next 10 years, I grappled with anger and confusion about what to do. I couldn't bring myself to cut off my breasts to remove my risks. Ever since my parents brought my baby brother home from the hospital when I was 9, I wanted to be a mom and I equated motherhood with breastfeeding. So, I did what any terrified girl would do in her 20s — always planning to get married one day, I rolled out "the talk" about my high risk and the option to get a preventative surgery after kids about six months into every relationship.

Even with this perspective, life still isn't simple. Information is both power and a burden. I don't carry it lightly.

Terri Wingham is the founder and CEO of A Fresh Chapter, a nonprofit that empowers cancer patients, survivors, and caregivers to move beyond the isolation and trauma of cancer.

In 2012, I had already been working as a Nurse Practitioner in oncology for over 16 years, when I got a call one evening from my sister Catherine letting me know she had found a lump in her left breast and it was cancerous. Just 2 months later I received a call from another sister — my niece Valentina had been diagnosed with ovarian cancer. She was only 22 years old.

I made sure that I was at every doctor's appointment I could possibly make with Catherine. I helped her in any way I could by taking notes, and keeping track of all the when's, where's and how's that were being thrown at her. She leaned into me and I stayed by her side through the chemo, surgery and radiation to follow.

I celebrated with her when the treatments were all done, and cried with her when 1 year later the cancer returned — rapidly metastasizing through her body even while starting a clinical trial. During this same year, I watched from a distance as my niece went on to develop breast cancer and ultimately metastasis to the brain.

In 2014, Catherine passed away quietly in hospice care and my heart broke into a thousand pieces as I stood by her bedside holding her hand while she took her last breath. The day before she passed she asked me to promise that I would get genetic testing done.

Two years later through a routine mammogram screening I was found to have extremely dense breasts. This combined with my detailed family history of cancers prompted my doctor to refer me to a genetic counselor for testing. Finally I was keeping my promise to Catherine, and while no currently identified gene mutation was found, I was still classified as high risk of developing breast cancer myself.

Determined to learn more about how I could move forward in a way that nourished and supported my health, I enrolled in and completed an integrative and functional nutritional program. Since then, I have dedicated myself to helping other women with hereditary or familial risk of breast cancer.

To learn more about Millie and her services visit meliawellness.com.

Osteogenesis Imperfecta. OI. You knew nothing of those big words or that acronym before Isaiah.

At your 20-week ultrasound, you were anticipating finding out your baby's gender. You'd just recently started feeling little kicks and flutters; you were elated. You watched your baby on the screen, too distracted by your excitement to notice the ultrasound technician's silence and grimace on her face as she focused on measuring bones. You were too preoccupied by that beautiful little heartbeat to see your baby's curved and broken arms and legs.

After your ultrasound, you and Dave were left alone in the ultrasound room for what felt like an eternity. When you were finally brought to another room, you asked the doctor not to tell you the gender — you had big plans for that reveal; she thanked you and took a deep breath. You now understand she was scared for you. She was scared for your baby. And she didn't know quite what was going on.

You were asked about dwarfism running in your family. Your heart picked up its pace. You were told your baby was in the 5th percentile of growth. Your head began to tingle. You didn't expect to hear the word "lethal" to describe anything to do with your baby, but when the doctor said "it could be a lethal form," you began sobbing.

Oh, Vicky, it's going to be OK. You are one of the lucky ones; "lethal" doesn't describe Isaiah's OI. You will have that baby, your son, who you have already fallen so in love with. Things will just be different than you imagined.

Your baby's bones will break, but they will heal. Before Isaiah, you were a teacher of reading and math and now you are a teacher of how to care for an OI baby. Isaiah isn't his OI. Isaiah will be happy. Isaiah will be resilient.

I have lived my whole life playing a genetic version of Russian roulette. In this version the gun is half loaded, leaving me with a 50/50 chance of getting hit.

As far back as I can remember there has always been a rare disease in my family. It had no name, treatment or cure. It was so rare that none of the doctors knew what it was. As a little girl I remember wondering what happened to my grandpa on my mother's side. When I asked I was told, "he died from the family disease." One summer when I was about twelve years old my mother took me to visit a great aunt of mine. I saw she was using a walker. "She has the family disease," I was told. A few years later as a teenager my mom's sister came to live with us. "She has the family disease," I was told. This was the first time I would see it first hand.

These are the basics of the rare "family disease." The first symptoms start when the person is in their 30s. It is passed down from parent to child. It starts with hearing loss, then sometime after that comes the peripheral neuropathy causing balance issues. Then the dementia begins. In the end the person is bed ridden, unable to speak, and unable to feed themselves.

I don't remember when I first knew my mom had the family disease. Some memories you bury deep. I do remember that over a 15 year period I watched my mom go from being a night nurse to being bed ridden herself. At the time of my mother's passing I was 31. The family disease still didn't have a name. There was no test to take to see if you would get it. Still no treatment, no cure.

I was in 2nd grade when my aunt Joy passed away. It wasn't a pretty passing although she was a beautiful person. She was my first education on the concept of death. I remember hair loss and staples and feeling her cold, lifeless hands.

People continued to die as I continued to grow. I was 18 when I underwent genetic testing and learned that I had an 87% lifetime risk of developing breast cancer and a 50% lifetime risk of developing ovarian cancer, as well as higher risks of skin, stomach, pancreatic and other cancers. I wondered who would hold my cold hands.

The genetic counselor told me there were options, that my life could be saved and so I began my routine screenings. I started to feel sick even though I didn't have cancer. I am and have always been thankful to my mom for encouraging us to get genetic testing done because I know that it saved my life.

When I was a senior in high school my mom was diagnosed with an aggressive triple-negative breast cancer. I was rummaging through her closet after school one day. I found a red wig and I broke down sobbing. She was preparing herself for the hair loss that would inevitably come. I was angry because she had blonde hair, not red, so the wig was the wrong color because my mom wouldn't look like my mom.

She fought for us and she lived to tell the stories. She still lives and she gets to see the smiles on her grandkids' faces when she bakes them cakes shaped like bunny rabbits.

At the age of 31, I was finished having kids and I was ready to get the show on the road. I had my healthy, non-cancerous breast tissue removed via preventative double mastectomy. I had years and numerous oncologist consultations to confirm that this was the right decision for me.

Find Sarah on Instagram: @SarahMessaliDavis

From the moment of Joshua Frase's birth, doctors were saying that the odds were he wouldn't live through the day. How could he? None of the striated muscles in his body functioned normally, including the frail diaphragm muscles surrounding his lungs. But there was something about Joshua present in that delivery room that the doctors couldn't see; Joshua had the will to live.

Joshua would spend his almost 16 years on earth battling with Myotubular Myopathy, a debilitating and mortal disease that stole normalcy from his life. His life consisted of hospital visits that were too numerous to count, and middle of the night conversations with his parents after near death experiences. But through it all, Joshua's tenacious spirit gave him the courage to dream of the future. He dreamed of becoming a scientist who would help find a cure for his disorder. MTM kept his body frail, but he never let it touch his mind or his spirit.

Vision, Fortitude, Resolve — those words have been at the bottom of every email that Alison Frase (Joshua's mother) has sent for the past two decades. The day after Joshua was born, amidst every bad report the doctors gave her, she looked at her newborn son on a ventilator and said, "Let's give him a chance to live." Those words changed her life, and at that moment, she became her son's advocate.

Paul Frase (Joshua's father) carried Joshua through the playground of life one activity at a time — hiking through the woods, on a tour of the White House, on a scavenger hunt — all so his son could experience what "normal" kids did. Carrying Joshua through life created a bond that most fathers and sons never experience.

Emmalyn Reese Hudson graced us with her presence 8 years ago at 35 weeks gestation weighing in at 5 lbs, 7 oz. Our beautiful baby girl was so tiny and perfect, and I couldn't believe how blessed we were to be her parents. A few days later, we brought our seemingly healthy baby girl home. On our second night at home around 10:30 pm, we received the devastating phone call that no parent ever wants to get. In an instant, our new baby bliss turned into sheer panic, fear, and grief.

The nurse solemnly told us, "I don't want to alarm you, but your newborn baby is very sick and needs to be brought to the hospital immediately." She told us to pack our bags because Emmalyn would be transferred to the Children's Hospital two and a half hours away after she was stabilized. We were given no details about what was wrong except that her Newborn Screening came back positive for a rare genetic disorder.

After 8 days in the Children's Hospital, we took our baby girl home with a diagnosis of Glutaric Aciduria/Acidemia Type 1 (GA-1). GA-1 is a rare genetic metabolic disorder in which the body lacks the necessary enzyme needed to break down certain amino acids. There is no cure for her disorder but we manage daily with specialized metabolic formula, medication, a carefully measured low protein diet, frequent blood work, and strict emergency protocol management.

Fast forward 8 years: Emmalyn is living a full, happy, and healthy life. She is brilliant, funny, loving, compassionate, beautiful, and exceptionally brave. Without newborn screening and the quick response by her medical team, she could have lost all her motor skills or her life. Looking back now, the worst phone call we ever received will also be the best call of our lives in that it was what saved Emmalyn's life.

My name is Danaé Bartke and I was diagnosed with Homocystinuria in 1995 at the age of 10. We discovered the diagnosis because my younger brother had bumped his head on a table in school and then complained that he could not see. After a week or so, my mom took him into an eye doctor who referred us to the Wheaton Eye Clinic. They discovered that his lenses had detached from his retina and popped through his pupil. He then had immediate eye surgery to remove the lenses in both of his eyes.

The doctor told us it could only be one of two conditions. Garrett was disqualified from one because he was not old enough, so it left us with only one possibility: Homocystinuria. Immediately, Garrett was tested and it came back positive. The next step was to have myself and my six siblings tested. Out of the rest of us, I was the only one who also tested positive.

I can't say that I was a very sweet child. My brother and I gave my mother a very difficult time. We hated the food, hated our Hominex, and we did not really follow the diet like we were supposed to. In 2009, I had a really big fork thrown in my road. As a result of not following the diet as well as I should've, I developed a blood clot in my wrist. After a week in the hospital I was released with a new lease on life.

About two weeks after being released from the hospital I received a letter from the PKU Organization of Illinois inviting me to a low protein cooking class. I had neither heard of them nor did I know there were any other disorders that had to follow a low protein diet. I was so excited. In the course of a couple of years we went from having no community to a community that was just so helpful and kind. In 2016 I became the President of the PKU Organization of Illinois, and upon arriving back from a meeting in Prague I co-founded what is now HCU Network America.

Looking back at everything that I have been through in the last six years makes my head spin at times. In 2013 at the age of 41, I was diagnosed with DCIS and IDC. My former surgeon gave me some really poor advice. He told me not to bother getting genetically tested. He told me not to have a mastectomy and he never sent me for a breast MRI.

About a week after my lumpectomy, I found out I was BRCA2 positive and that's when all the fun began. Countless doctors appointments, three opinions and I was off to the chemo chair and later a bilateral mastectomy. None of this shit is pink or glamorous. Chemo was hell. The surgeries and the 5 years on meds were awful. I had to switch my meds three times due to side effects. When one person gets cancer, the whole family gets cancer. I have been NED for 6 years. Not a day goes by that I take it for granted.

It's breast cancer awareness month. OK, so we are all pretty much aware. So let's bring some very needed focus on genetic testing and metastatic breast cancer. Genetic testing is absolutely vital because it determines your care plan and treatment. I've been advocating for myself and others for the past 6 years. Sometimes it's emotionally taxing, but it's an extremely important cause for me.

I wish I knew about BRCA so that I could have had a prophylactic bilateral mastectomy. So here's my advice to everyone: ask questions, get second opinions, and if you don't like your team of doctors get yourself a new team. If you have a family history of cancer, go and talk to a genetic counselor and get yourself tested.

Read more on Irene's blog, mutantstrong.com. Find Irene on Instagram: @mutant_strong.

It's funny how life has certain events that occur that give you a life learning curve. You hear all the funny facts and jokes about family history, but never the whole entire story. As you get older, you find out more personal information about your family history, but most importantly the genes that are passed down — and this is my family history.

My ancestors are of Ashkenazi Jewish descent which means a higher risk for certain diseases because of specific gene mutations. In 1967, my Poppy was diagnosed with lung cancer and was told he had 6 months to live. He fought long and hard with one lung for 30 years. As I watched my Poppy battle 2 cancers I often thought to myself — can I get cancer? Will I get cancer? I didn't know anything about the BRCA genes.

My name is Tracy and I was diagnosed BRCA2 positive at the age of 21. My journey began when I had just graduated high school and found a lump in the shower when I was 18 years old, which led to a lumpectomy — thank god it came back benign. One year later I had another lumpectomy which was also benign. I decided to have genetic testing done in 2004 and found out I was BRCA2 positive.

Fast forward to 2015: I decided to move forward with surgical preventative action. First a robotic hysterectomy, then in December 2015 a prophylactic bilateral mastectomy with reconstruction. This journey has not been easy and can be overwhelming at times. After multiple surgeries, I am in a great state of mind, healing well and feeling my most authentic self.

Prior to starting my surgical journey I created a private group for women called BRCAStrong — a safe place to talk about being a Previvor or Survivor. I never thought I would have over 2000 women members nationwide. In 2019, I officially made BRCAStrong a 501c3.

Visit BRCAStrong.org to learn more.

It is said that a goldfish will grow only as big as it needs to suit the size of its tank. The bigger the tank, the bigger the fish. This is known as the Fish Tank Philosophy and is something I have kept in mind as I raise my daughter. I choose to give my girl the largest and broadest environment possible. I want to see her rise to her full potential so I manage my expectations and try not to set limits for her.

Don't get me wrong, it's not like its easy. I've hit on all the feels of welcoming Down syndrome into my life. I've done the grief-driven "she won't do this" and "she won't do that" and "I can't do this." I've come back with the gratified "you know what? That's okay." I've touched on all the defeated "she's not there yet"s and the "she probably won't be doing that"s. And I've come away feeling proud to be wrong.

I watch her spinning in circles, side-stepping, and tapping her little feet to the sound of any theme song on television and I think back to this time last year when I was confident that she wouldn't be walking until the age of three. I watch her learn the colors, the alphabet, and how to use the toilet starting at the age of two.

My daughter is more alike than different and those parts that are different? Well those are my favorite parts. This is what the world seems to be confused about. The word "disability" seems to be synonymous with the word "inability" and that is simply not true.

If you've just received the news that your child has Down syndrome, my biggest piece of advice to you is to educate yourself fully. Find a family who is living their life after they received the very same news. You will see the raw, the real, and the sometimes ugly, but you'll also see the GOOD and that there really aren't limits for someone with Ds if you don't place them.

To read more, visit Baby Lemonade Blog.

When I was 5 years old, my dad passed away from a rare, deadly genetic disorder called adrenoleukodystrophy (ALD). This condition primarily affects males and results in severe neurological impairment, ultimately resulting in death unless diagnosed and treated before symptoms develop. In my dad's case, he lost his ability to talk, walk, swallow, and understand what was going on around him.

ALD is an X-linked disorder. Since males only have one X chromosome, my father unavoidably passed the ALD gene to me, making me a carrier of the disease. Recent studies have shown that over 85 percent of female carriers eventually develop symptoms, which can include difficulty walking, bladder and bowel dysfunction, and even cognitive impairment. Many carriers themselves have no idea their symptoms are related to the disease they carry.

As a passionate feminist, I am well aware of the fact that males have traditionally come first when it comes to research and medical treatment. The most nerve-wracking part about being an ALD carrier is the fact that there are no known measures I can take to prevent these symptoms or treat them if or when they arrive.

In addition to physical symptoms, female carriers have very little support with regard to difficult decisions they must make concerning their reproductive options. All X-linked recessive carriers have a 50 percent chance of passing the genetic mutation to their children. Being a carrier of an X-linked disease can be incredibly isolating. However, I have been fortunate to meet and form relationships with so many brave carriers of ALD and other X-linked disorders, which has made me feel much less alone in this journey.

It has also spurred me to take action. I created a 501(c)3 nonprofit organization called Remember the Girls, to raise awareness of the issues we face as carriers. As carriers, we deserve to be seen. We deserve gender-specific research, and we deserve to be able to afford to have children without the fear of passing our disease on to them.

For more information, visit Remember the Girls.

My name is Daniel Shockley, retired U.S. Navy, Operation Enduring Freedom and Operation Iraqi Freedom veteran. I am a colon cancer survivor; I have a rare genetic mutation and an ostomy. At the age of 51, I received a life-changing diagnosis after having my first and only colonoscopy. I was diagnosed with Attenuated Familial Adenomatous Polyposis, or AFAP. AFAP is a subtype of Familial Adenomatous Polyposis (FAP), which causes an increased number of colon polyps and therefore an increased risk of colon cancer.

It was in May 2012 when I learned of AFAP. The outcome of my colonoscopy revealed a large mass in my colon, rectum, and anus. Based on these findings, I was immediately referred to Tripler Army Medical Center for a consultation with their certified genetic counselor, where DNA testing was ordered. The test results revealed I had an Adenomatous Polyposis Coli (APC) mutation, confirming the AFAP diagnosis. AFAP is estimated to affect less than 0.03% of the global population.

I was informed that if the large mass and polyps were left unattended, there was a 100% chance of me developing colon cancer. It was determined that I would need a total-proctocolectomy with ileostomy surgery — a procedure that removes the entire colon, rectum, and anus. The surgery was successfully conducted in July 2012. As a result, I have an ostomy pouching system, a prosthetic medical device that provides a means for the collection of waste.

I embraced being diagnosed with AFAP from the beginning. My mindset can be best described as: I tend not to think about things I am unable to control. What I can control is my positive attitude, and after five decades on God's green earth, it has brought me this far.

Read more about Dan's story on the U.S. Army website.

When I was 17 years old, I was unexpectedly diagnosed with Usher syndrome, a rare genetic condition that causes combined and progressive deafness and blindness. With no present cure for Usher syndrome, the doctors revealed I would lose most, if not all, of my eyesight and hearing.

The diagnosis came as a complete shock. While I was born with moderately severe hearing loss, my vision was nearly perfect. It was not until my sophomore year of high school that I started to notice the night seemed darker than usual. The ensuing confirmation that I would eventually lose my sight was absolutely devastating, but it also provided me with intense motivation to make the most of the vision I still had left.

I am now 26 and have compressed a lifetime of experiences into the nine years since my diagnosis; from backpacking in Thailand and volunteering with elephants, to staying in a glass igloo in Finnish Lapland, to camping in the Sahara Desert. Today, I am living in Nashville, TN, and pursuing my MBA at Vanderbilt University.

I have consistently challenged myself to not let my disabilities hold me back. The reality is that I am still learning how to navigate life with Usher syndrome. The moment I get used to my current state of vision, my eyesight deteriorates even more. There is no guide book on how to go through life with Usher syndrome. Nevertheless, embracing the unexpected difficulties is the only way to stay positive — in addition to constantly reminding myself that we all have our own struggles in life, and we are not alone in our adversity.

Follow Hannah's adventures at wanderlightmoments.com and on Instagram: @wanderlight.moments.

"I've spent most of my life as a medical mystery. I've lived my life since birth with an invisible illness no one could figure out. I've always felt this need to prove myself to friends or family members who questioned if I was just 'too sensitive' or 'lazy.'"

When I was a child with asthma, anxiety, unexplained weight gain, pain, fatigue, and food allergies, I knew I was different. My anxiety was so bad I would throw up from the smallest amount of stress. The pain was so bad, at times, I thought I was dying. When I was 15, I was diagnosed with Polycystic Ovarian Syndrome.

At 16, we moved into an older house. Little did I know the mold in the basement would trigger my first official "mast cell attack." I woke up one day before school covered in hives. My eyes were swollen completely shut. I went into anaphylactic shock and had to be given an EpiPen shot to keep from dying. This happened almost every day with anaphylactic reactions every few months for the next three years.

Several doctors, medications, and diets were tried. It wasn't until I was referred to a specialist at a very prestigious hospital that I slept my first night without feeling like my body was on fire. For a few years, I could go to college, work, date, have friends, and even function to the point where I could hide any issues I had. The crippling anxiety never left, though — like an old friend that was always in the background to remind me I wasn't the same as everyone else.

Read the full story at Love What Matters.