Nadia Billous (GRIN2B-related disorder)
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.
Learn more about the Andryusha family’s story here.
Terri Wingham (Breast Cancer and BRCA1)
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.
How will you feel if one of you has the marker and one of you doesn’t? What if you are the one who has it? What if you are the one who doesn’t?
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. As you might imagine, this never went well.
During this era, I started seeing a genetics oncologist, Dr. Pike, at the B.C. Cancer Agency. I met her at the age of 23 and saw her every six months after a mammogram or an MRI. Each appointment, when she asked if I had considered my options, she would smile reassuringly when I either told her about a new relationship I hoped would get me closer to marriage and kids or when I teared up over my latest heartbreak. Her kindness became a beacon during some of my darker moments.
The screening itself was a double-edged sword. It reassured me that if cancer happened, we would catch it early, but every single time I slid into the MRI machine or stood with a technician squeezing my breasts between cold plates and telling me how young I was, I felt my chest tighten and I wouldn’t take a proper breath again until I got the “all-clear”.
In some ways, my cancer diagnosis at the age of 30 still came as a shock. The universe had not granted me the loving partner and the family I had wished for, which only seemed like a fair trade for cancer. On the other hand, it felt inevitable. At least I could face the monster that had lurked in the shadows for more than a decade. And, a monster it was. The knowledge of the genetic predisposition didn’t make chemotherapy any less hellish, nor did it ease the incredible physical pain of my double mastectomy and reconstructive surgeries. But it did save my life. My triple negative, grade 3 tumor was snuggled up so tightly to my chest wall that a mammogram did not detect it. The first core-needle biopsy came back negative. I believe I am here – writing these words 10 years later because a radiologist at the B.C. Cancer Agency didn’t feel 100% confident that she had gotten the right tissue sample during the core-needle biopsy and ordered a follow-up MRI guided biopsy. With the type and grade of breast cancer invading my body, I believe if I hadn’t had access to my genetic family tree, I would have not discovered my cancer in time.
Even with this perspective, life still isn’t simple. The day I went in for my final breast reconstruction surgery, I learned my second cousin—who had become my rock through cancer—had been diagnosed with stage 3C ovarian cancer. My gratitude for being healthy and alive and my sadness about her diagnosis—coupled with my fears of a future ovarian cancer diagnosis—forced me to ask myself some tough questions.
What if I die young? How can I make my time on earth really count? How might I honor the synchronistic chain of events that led to my family being chosen for a study, decades before a test like this entered the mainstream?
I chose to carve out a new path for my life. I left my career as a professional headhunter and created A Fresh Chapter —an organization dedicated to healing the emotional scars of cancer through volunteering, perspective-shifting experiences, and programming designed to reframe adversity and redefine what’s possible.
I am still grappling with my genetic legacy and continue to face difficult decisions. Even though my dreams of motherhood hadn’t become reality, I made the choice to get a prophylactic oophorectomy in December of 2016. At the time of this writing, I am still weighing the pros and cons of removing my ovaries. I’m only 40 years old and it’s not a simple choice, as either path is littered with potential risks and complications.
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 to discover renewed confidence, possibility, and purpose in their lives. Today, she spends most of her life living out of a suitcase while running programs around the world.
Millie's Story (Previvorship, Breast Cancer & Ovarian Cancer)
In 2012, I had already been working as a Nurse Practitioner in oncology for over 16 yrs, 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. While feeling a chill immediately wash over me I managed to ask how could she know it was cancerous when she was only just telling me now she found it?! She explained to me, in a small voice that she hadn’t “Just” found it…. She had found it a week or so week before, had it biopsied and hadn’t wanted to worry me by telling me until after having the results. And this was the day she received her results. It was also unbeknownst to me, the day my life would forever change in ways I could never have imagined. Catherine was 48 years old.
Just 2 months later I received a call from another sister whom I could barely understand because of her crying. She had called to tell me her daughter – my niece,Valentina – had been diagnosed with ovarian cancer after complaining for months about bloating, loss of appetite, pressure in her lower back lower back, changes in her bowel movements, and tiredness. She was only 22 years old.
By now my head was spinning, and my world crumpling… My niece lived several hours away from me and so I could only call to find out updates and visit when I could on weekends. Meanwhile, I made sure that I was at every doctor’s appointment I could possibly make with Catherine who lived closer. 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 to promise that I would get genetic testing done. She herself had planned on it but died before she could do it.
Two years later through a routine mammogram screening I was found to have extremely dense breasts. I already had a history of fibroadenoma, Type 1 diabetes and was of an ethnicity known to have a higher incidence of breast cancer. This combined with my detailed family history of cancers prompted my doctor to refer me then 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. I was referred to a breast surgeon for continued follow up. I am now on an aggressive surveillance protocol requiring a yearly MRI with contrast, 3D mammogram and ultrasound. My breast surgeon let me know that new pathogenic gene variants are being found all the time and I will need to repeat the genetic testing at least every 10 years. She also let me know that it would have been easier to identify a gene mutation if Catherine or my niece had their genetic testing done (which neither had).
I was told that should my breast tissue become even slightly more dense I would need to consider chemo-preventive medication in addition to my surveillance regimen. This information has changed the trajectory of my life as I embarked on my own personal health journey to take back control of the direction of my health.
Determined to learn more about how I could move forward in a way that nourished and supported my health as a whole person and position myself for the best outcome possible, I enrolled in and completed an integrative and functional nutritional program.
Through this program I expounded on my clinical knowledge of oncology and learned more deeply about aspects of health that impact the human body down to the cellular level. I learned how the power of nutrition, active living and stress management actually worked to minimize inflammation, regulate hormones and support a healthy immune system so that even those with known gene mutations, or as yet, unknown variants such as myself have a better chance of survival.
Since then, I have dedicated myself to helping other women with hereditary or familial risk of breast cancer by offering hands-on support to them during their doctors appointments, helping them achieve healthy lifestyle changes and by connecting them with resources they need to move forward.
To learn more about Millie and her services visit : www.meliawellness.com
Isaiah's Story (Osteogenesis Imperfecta)
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. Your baby was growing big and strong. (Or so you thought.) 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.
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 5 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 are going to be hard at first. You’re going to hear a lot of new terms like “tachcypneic” (meaning your baby breathes fast), and Pamidronate (the medicine your son will get to help strengthen his bones).
You’re going to learn about oxygen saturation and how to place an NG tube down your son’s nose so he can eat.
Don’t panic. Isaiah is strong.
And so are you and Dave. You will find support groups full of people who you will later consider family, and they will help you, teach you, befriend you. They will help you find a specialist who will fight along side you when Isaiah will go into respiratory failure. He will help you get the best care possible at what you will later believe is the best hospital in the world.
Isaiah isn’t his OI.
It’s going to be OK. I promise.
Rachelle's Story (HSAN1E)
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.
Round and round the cylinder spins….pull the trigger…
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. I asked what was wrong with her, “She has the family disease,” I was told. A few years later as a teenager my mom’s sister came to live with us. I asked why, “she has the family disease” I was told. This was the first time I would see the “family disease” first hand.
These are the basics of the rare “family disease.” The first symptoms start when the person is in their 30’s. It is passed down from parent to child. It starts with hearing loss, then sometime after that comes the peripheral neuropathy causing the person to have balance issues. Then the dementia begins. From then on, it just gets worse. In the end the person is bed ridden, unable to speak, and unable to feed themselves. Their organs begin to shut down leaving nothing left of the vibrant person you once knew.
Round and round the cylinder spins….pull the trigger…
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 for a little boy in a coma to being bed ridden herself, unable to speak, feed herself, or hold her newborn grandson. I know that I was left with feelings of guilt, anger, helplessness, and intense sadness.
At the time of my mother’s passing I was 31. The family disease still didn’t have a name. None of the doctors still didn’t know anything about it. There was no test to take to see if you would get it. Still no treatment, no cure. The disease would take the lives of several more family members before it would make its way back to me and my four siblings.
Round and round the cylinder spins…pull the trigger…
Sarah's Story (BRCA2 Previvor)
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. I remember my mom’s tears and my aunt Barb asking me if I wanted to hold Joy’s hands longer but I didn’t want to because they were cold and I didn’t understand why. My teacher pulled me aside in class to read me a story about death. I don’t remember anything about the book other than there being fall leaves on every page and my teacher crying and I didn’t know why she was crying because she didn’t know my aunt Joy, but I understood that death makes everybody sad.
People continued to die as I continued to grow. I was a 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 (physical exams, blood work, mammograms, pelvic ultrasounds and breast ultrasounds). 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 right after she was diagnosed. She wasn’t home from work yet and I had a bad habit of testing out her lotions and perfumes without her permission. 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. I heard the garage door opening as I was holding the wig so I shoved it inside of her drawers, went in to my room before she could find me with the wig and then pretended to be upset about the upcoming AP tests that I didn’t give a shit about.
She went through endless rounds of chemotherapy, more surgeries than I could count and infections that caused her to knock on death’s doorstep more than once. She lost her hair and sometimes she wore the red wig but sometimes she went without any wig. I let go of my anger because I realized it was really just sadness and fear. She lost her energy and I started to see her bullshit smiles when she was in pain but wanted to protect me from sadness, just like my son can read the bullshit smiles on my face now. 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 (and replaced with implants) via preventative double mastectomy. I had years and numerous oncologist consultations to confirm that this was the right decision for me…
Joshua's Story (Myotubular Myopathy)
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, and they describe her character well. The day after Joshua was born, amidst every bad report the doctors gave her concerning how long her son had to live, 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. With shoulders squared, she faced the world of MTM and all the unknowns, which surrounded an orphan disease.
Paul Frase (Joshua’s father) sat in the living room with his wife one afternoon and joked that he was ‘just the muscle’ behind the Joshua Frase Foundation, but the truth is, as the Joshua Frase Foundation wouldn’t be where it is today without Alison’s tenacity and ‘never quit’ attitude, the Joshua Frase Foundation also wouldn’t be where it is today without Paul’s muscle. Paul’s job as an NFL lineman was more than just a dream job; it was the vehicle the Frase’s would use to start their foundation. Every Sunday when Paul put on his team uniform, he was using his muscles to build a platform to raise awareness and funding for research for this deadly disorder, as his son, whose muscles failed him on a daily basis, fought for his life. Paul 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, and to all night church lock-ins, all so his son could experience what ‘normal’ kids did. Carrying Joshua through life created a bond that most fathers and sons never experience. When Paul won the Ed Block Courage Award an unprecedented second time in his eleven year NFL career, he knew it was because his son showed him every day what it meant to be courageous, to stand firm in the face of adversity, and to keep getting back up time and time again when life knocks you down.
Shannah's Story (GA-1)
Emmalyn Reese Hudson graced us with her presence 8 years ago at 35 weeks gestation weighing in at 5 lbs, 7 ozs. and 18 inches long. Our beautiful baby girl was so tiny and perfect, and I couldn’t believe how blessed we were to be her parents. Her Apgar score was an 8, and she seemed otherwise developed and healthy despite being premature. She did have an elevated white count which required her to have a round of IV antibiotics and another day of observation. 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. That moment, one I will never forget, is when our daughter became a brave and fearless Rare Disease warrior.
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 then told us to pack our bags because Emmalyn would be transferred to the Children’s Hospital two and 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. The next couple weeks were a blur of tears mixed with overwhelming fear, uncertainty, anger, devastation, and immense heartache.
After 8 days in the Children’s Hospital, we took our baby girl home with a scary 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 the amino acids lysine, hydroxylysine, and tryptophan which are building blocks of protein. The excessive levels of intermediate breakdown product will then accumulate and cause damage to the brain, including the basal ganglia. 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, strict emergency protocol management, and extra caution during cold/flu season.
Fast forward 8 years: Emmalyn is living a full, happy, and healthy life. I homeschool to keep her from being exposed to all the contagious illnesses in the school system. She has abnormal MRI’s, slight developmental delays, learning disorders, speech delays, macrocephaly, and secondary carnitine deficiency which are all common for her disorder. She is brilliant, funny, loving, compassionate, beautiful, and exceptionally brave! 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.
Without newborn screening and the quick response by her medical team, she could have lost all her motor skills or life due to metabolic acidosis, encephalopathy, and striatal necrosis. There is still much more to learn about her disorder, many people to educate and inspire, improved protocols to be established, gene therapies to be developed, and an eventual cure to be found.
Danae's Story (Homocystinuria)
My name is Danae’ Bartke and I was diagnosed with Homocystinuria in 1995 at the age of 10. We discovered the diagnoses 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. At 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, at the time, told us that it could only be one of two conditions that had caused the detachment. Garrett was disqualified from one because he was not old enough, so it left us with only one possibility: Homocystinuria. The eye doctor at the Wheaton Eye Clinic then got in touch with Dr. Paul Wong and told him of the case. Immediately, Garrett was tested and it came back positive. The next step was to myself and my six siblings tested. Out of the rest of us, I was the only one who also tested back positive for Homocystinuria.
After the diagnoses Dr. Wong took us through a couple of treatments to see which ones we had responded too. The first one was just a regiment of B6. From that, we discovered we did not have the kind of Homocystinuria that was responsive to B6. He then started us on B6, B12, baby aspirin, folic acid, Hominex-2 and a low protein diet. After that we were on track; at least for a bit. 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. Our father had died a year prior to our diagnoses, so our mom did not have the time or energy to battle us every step of the way. Eventually, I did adhere to taking the Hominex and attempted to follow the diet. I wasn’t the best patient, but I did make an attempt.
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. Dr. Wong advised me to go immediately into the Emergency Room at Rush and he would have someone there to meet me. After a week in the hospital I was released with a new lease on life. I realized how lucky I was and that if I was going to have a healthy, productive and long life, that I was going to have to take my diet seriously.
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 the PKU Organization of Illinois nor did I know there were any other disorders out there that had to follow a low protein diet. I was so excited! After the cooking class, we then went to the Annual meeting where we met Malathy from Taste Connections. From her, we found out about the first national conference for Homocystinuria. We went to that in March 2011. 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 2014 I joined the PKU Organization of Illinois board. In 2014 and 2015 I was in charge of the PKU Press. The PKU Press is PKU Organization of Illinois newsletter. It lists the events for the Spring and Fall. It also has special interest pieces, tips, recipes and much more. In 2016 I became the President of the PKU Organization of Illinois. As President, I oversaw the Board of Directors and various committees. I put myself on every committee to get a solid understanding of each function.
In 2016, I traveled to Prague for the first Methylation Defects Patient-Expert Meeting. There I was able to meet with world-renowned researchers in the Methylation Defects field, along with other patient organizations and families. It became very apparent that we needed an organization in the US for the Methylation Defects. Upon arriving back, Margie McGlynn and I began work to start up what is now HCU Network America!
Irene's Story (Breast Cancer and BRCA2)
I never thought I would…..
Looking back at everything that I have been through in the last six years makes my head spin at times. So it’s been a minute here. in 2013 at the age of 41, I was diagnosed with DCIS and IDC My former surgeon gave me some really poor advice. Luckily I didn’t take it.
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. This is the reality of a cancer patient.
It’s breast cancer awareness months. Ok, so we are all pretty much aware. So let’s bring some very needed focus on genetic testing and metastatic breast cancer. The only cancer that kills is stage 4. If we can find out why people get mets, we can somehow make this disease chronic like HIV. Genetic testing is absolutely vital because it determines ones 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 never thought that I would be sitting here and writing about my cancer journey. If someone told me that this was going to be my life, I would have changed things. I wish I knew about BRCA so that I could have had a PBM (preventative 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
Tracy's Story (BRCA2 Previvor)
It’s funny how life has certain events that occur that give you a life learning curve. No one really finds out about their family history until they’re young adult. You hear all the funny facts and jokes of stuff that happens when the family was growing up and maybe certain situations to teach you about life, 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 through family and this is my FAMILY history.
In 1922 my Poppy (my grandfather) at age 2 my came on a boat from Poland and arrived in New York Harbour through Ellis Island with his five brothers, Mom and Dad and lived in an area near the Grand Concourse in the Bronx, New York, walking up five flights of steps daily. My ancestors are of Ashkenazi Jewish descent which means a higher risk for certain diseases because of specific gene mutations. My great grandfather had cancer but, back then they were unable to identify which kind of cancer he had.
In 1967, my Poppy was diagnosed with lung cancer and was told he had 6 months to live. One month after diagnosies he had one lung removed and began cobalt treatments for 6 months 5 days a week. He was a warrior and fought long and hard with one lung for 30 years. In the late 80’s he was diagnosed with prostate cancer and fought that like the champ he was. 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! In 1995, the cancer returned in his sternum, close to where he had his first bout of cancer. He went for chemo once again even though the doctors told him Joe it is not going to help this time. He fought for almost 2 years before he lost his fight.
Speaking of family history 2 of the 5 of my Poppy’s brothers had cancer. One had prostate and the other had colon and prostate cancer. What’s in your genes?
Now let’s talk about my nana and her 2 sisters who are all breast cancer survivors. My Nana is my mom’s mom. Her oldest sister Selma was diagnosed with breast cancer in her 40’s (1960’s) and lost her battle after much suffering within one year of her diagnosis. Then we had my nana who in 1999 was diagnosed with breast cancer and had a lumpectomy with radiation. My Aunt Joan my Nana’s youngest sister had breast cancer as well with radiation and tamoxifen for 5 years.
My mom’s brother did the BRCA gene testing and came back negative but my second cousin Sandy (my Aunt Selma’s daughter) was BRCA 2 positive and also had a lumpectomy.
Based on family tree and cancer history in my family, to me it was a no brainer not to have genetic testing!
A little bit about me and how my whole journey started. My name is Tracy and I was diagnosed BRCA 2 positive at the age of 21 years old. 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 this came back benign. One year later I had another lumpectomy which was also benign. After yearly checks at the age of 21 years old they found another lump. At the time I asked my breast surgeon what are my options and did he think it was cancerous. I decided to go under close prevalence with a close watch and MRI’s, mammograms and ultrasounds every 6 months. It was then I decided to have genetic testing done. I moved forward with genetic testing in 2004 and found out I was BRCA 2 positive.
Fast forward to 2015 I decided to move forward with the surgical preventative action against breast and ovarian cancer. The first procedure I underwent was a robotic hysterectomy and went into surgical menopause rather quickly. December 2015 I underwent 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. During this journey I lost myself and now feeling whole again. As a woman it is important to know your family history due to everything that’s going on in life and in this world you will never know what’s going on with your body unless you’re constantly being checked. Don’t take any risk, your life is very valuable to you and your family.
Prior to starting my surgical journey I created a private group for women called BRCAStrong, this group was a safe place for women to talk about being a Previvior or Survivor and ask each other questions, support each other and guide one another as best as you could. I wanted to let other women know that they are not alone, never did I think that I would have over 2000 women members nationwide. In 2019, I officially decided to make BRCAStrong a 501c3.
BRCAStrong.org is a nonprofit 501c3 organization built on the very foundation of supporting Previvors and Survivors. Whether you are choosing the route of routine monitoring or preventative surgery, we can help you through the journey. The diagnosis can be overwhelming and isolating. You are not alone! BRCAStrong will navigate you through the process with others who are making the same decisions and facing the same fears. Empowering women living with mastectomies is imperative. We can help women network with the right foundation and physicians to properly support their needs.
“Our mission is to support, educate, inspire and empower Previvors and Survivors, to eliminate the feeling of isolation and helping you feel whole again.” BRCAStrong funds women who are in need of post mastectomy garments and lymphedema sleeves.
BRCAStrong strives to alleviate the emotional and financial burdens of women facing genetically predisposed breast and/or ovarian cancer through advocacy, direct assistance, empowerment, fundraising initiatives and events.
“My BRCA2gene started the fight but I am going to finish it.”
Amber & Kara's Story (Down syndrome)
Don’t Limit My Daughter Because She Has Down Syndrome
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 & broadest environment possible. I want her 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, its not like its easy. I’ve hit on allll 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’m not done yet either. I’m still riding that rollercoaster, knuckles white, but I’m definitely seeing a real picture of my daughter’s potential the more she grows.
Kara is constantly surprising me.
I see her interacting with her 6-month old sister and I think back to when she was that age. She reserved all her love for her mom & dad, leaving nothing for anyone else (read: major separation anxiety). Now, she draws people in with a little wave from under her chin or with one of her famous embraces.
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, & how to use the toilet starting at the age of two. I think back to the moments after we received our diagnosis and thought that these things wouldn’t be happening in a conceivable amount of time.
My daughter is more alike than different and those parts that are different? Well those are my favorite parts.
It isn’t a bad thing to be different.
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.
My daughter has Down syndrome, but that isn’t what I see when I look at her. We have felt the sting, the isolation, the disorientation of a Down syndrome diagnosis, but what really surfaces is the sheer JOY that she brings into our lives. I see my kid shine as brightly as any other.
We’ve seen her struggle, watched her conquer and have stood behind her every step of the way.
I have to believe that this world is changing because if not, the direction we’re heading is a devastating one. People like my daughter CAN be successful & inspiring.
A diagnosis does not define someone and it’s about time that we stop acting as if it does.
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.
I don’t mean run to the only doctor you know or open the first text book you can get your hands on. What I mean is, 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.
Taylor’s Story (Adrenoleukodystrophy Carrier)
What It’s Like to Carry the Rare Disease That Took My Father’s Life
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. ALD affects people differently, but in my dad’s case, he lost his ability to talk, walk, swallow, and understand what was going on around him. Some males with ALD also experience vision and hearing loss.
ALD is an X-linked disorder which means it manifests on the X chromosome. Since males (XY) only have one X chromosome and women (XX) have two, my father unavoidably passed the ALD gene to me, making me a carrier of the disease. ALD is known to be a recessive disorder, which typically means that carriers are completely asymptomatic. However, for ALD and a number of other X-linked, recessive genetic disorders, it has been determined that carriers often do develop symptoms of the disease, ranging from mild to severe. In fact, with ALD, 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. There has not been sufficient medical research or attention with regard to the physical symptoms developed by X-linked carriers or their treatment, and in many cases the symptoms female carriers face are overlooked or misdiagnosed by the medical profession. Thus, 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. Our symptoms oftentimes get brushed off as PMS or anxiety. To me, 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. Since ALD is a progressive disease, if I decide to have children in the future, the route I will take to ensure I have healthy children is in vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). This would allow me to have children who are completely free of the ALD genetic mutation. Unfortunately, many states do not require insurance companies to financially cover this procedure, and as it is extremely expensive, many female carriers are simply unable to afford it and are left with a very difficult decision: potentially having a child with a severe genetic disease or to give up their dream of having biological 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. Last year, I created a 501(c)3 nonprofit organization called Remember the Girls, to raise awareness of the issues we face as carriers. I hope to continue to build Remember the Girls, and create a coalition which unites female carriers of X-linked genetic disorders and raises awareness of their unique and pressing issues. 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.
Although I am unsure of what else the future holds for me, one thing I know for sure is that I will spend the rest of my life advocating for carriers, rare disease patients, and their families.
Dan's Story (Attenuated Familial Adenomatous Polyposis)
Living With A Rare Disorder
My name is Daniel Shockley, retired U.S. Navy, Operation Enduring Freedom and Operation Iraqui 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 a condition known as Familial Adenomatous Polyposis (FAP), which causes an increased number of colon polyps and therefore an increased risk of colon cancer in those who have it. I’ll explain how I used my life-altering experience with AFAP, as well as my military background, to reach out to the AFAP and colon cancer communities to increase awareness of hereditary cancers.
It was in May 2012, at the age of 51, when I learned of AFAP after my first and only colonoscopy. As a retired member of the U.S. Navy, the procedure was conducted by the GI Clinic, Veteran Affairs Spark M. Matsunaga Medical Center (VAMC) in Hawaii. The outcome revealed a large mass in my colon, rectum, and anus. Based on these findings, I was immediately referred to the Tripler Army Medical Center (TAMC) 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 <0.03% of the global population. I had numerous follow-up appointments with my colorectal surgeon, along with my genetic counselor, where I was encouraged to read about AFAP to familiarize myself with this condition. It was during these visits that I was informed if the large mass and polyps are left unattended, there was a 100% chance of me developing colon cancer. It was determined, based on the best practices of medicine, that I would need a total-proctocolectomy with ileostomy surgery. This surgery removes the entire colon, rectum, and anus. Leading up to my surgery, I was conducting my own research on AFAP, the surgical procedure, and life after surgery as an ostomate. The surgery was successfully conducted at TAMC 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 and have undergone what is considered to be a life-saving and life-changing surgery. My mindset from the onset can be best described as: I tend not to think about things, especially medical issues, 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. Why change now? Therefore, I keep the faith, remain positive and overcome adversity at every step of the way.
Hannah’s Story (Usher Syndrome)
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 and started having more trouble seeing in low light situations. The ensuing confirmation that I would eventually lose my sight was absolutely devastating, to say the least, but it also provided me with intense motivation to make the most of the vision I still had left.
Genetic testing established that I have Usher syndrome Type 2A, which means that while my vision loss is progressive, it is likely to be a slow deterioration, giving me time that I was nothing but grateful to have.
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 Finish Lapland, to camping in the Sahara Desert, the list of visual memories I have created goes on. Today, I am living in Nashville, TN, and pursuing my Master of Business Administration at Vanderbilt University.
I have consistently challenged myself to not let my disabilities hold me back. Recently, I explored underground caverns in Tennessee. Nearly fully night-blind at this point, trekking through dark caves was not an easy undertaking. Looking back, I should have better prepared and brought a real flashlight instead of my weak iPhone flashlight. 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.
Unfortunately, there is no guide book on how to go through life with Usher syndrome. Nevertheless, I do know that embracing the unexpected difficulties is the only way to stay positive through all of this, in addition to constantly reminding myself that we all have our own struggles in life, and we are not alone in our adversity.
There are thousands of people who are affected by Usher syndrome; thousands of people who struggle to see and hear every day. By sharing my story, I hope to raise awareness about Usher syndrome, not only to accelerate a cure, but also to encourage others with or without Usher syndrome, to remain positive and keep seeking the light.
Read my full story here.
Brandy’s Story (Ehlers-Danlos Syndrome)
“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. I couldn’t go to school or function like the other kids. The pain was so bad, at times, I thought I was dying.
When I was 15, I was diagnosed with Polycystic Ovarian Syndrome. The hormonal issues that come with both conditions are extreme: fits of rage or anxiety over nothing, insomnia, fear of going in public, and thoughts of impending doom. My family, who had their own issues to deal with, bared the brunt of a teenager with a chronic health condition. At 16, we moved into an older house. I was excited about having a larger room in the basement. Little did I know the mold in the basement, that didn’t affect anyone else in my family, would trigger my first official ‘mast cell attack.’ I woke up one day before school covered in hives. My eyes were swollen completely shut. My lips were triple their size. Nothing could explain the searing, burning pain of full-body hives. 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, from steroids to even the suggestion of chemo when nothing really worked. 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. I was put on a new drug at the time for organ transplant patients, which just so happened to stop hives for some reason. I didn’t care what the side effects were (and there were plenty). I just wanted to be an average teenager.
That first night, on my parent’s couch, I slept like I’d never slept before. 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 without anyone knowing I had a chronic illness. I was eventually even able to come off the medication. 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. Sometimes that was hard to hide.
Stress from school or a breakup would send me into a place where I couldn’t stop my emotions. I felt like I was drowning, and I eventually tried to end my life. The pain was so much. I felt like I had no control. I was sent to an inpatient facility for teens. When the doctors saw I was on steroids and several different medications, I was sent home after two days and told to get a hobby. When I came home, it was almost more frustrating because now I was looked at as mentally ill. I was put on antidepressants and told my illness was all in my head. It made me question myself. Was I really just crazy? Something deep down inside of me knew I wasn’t.
These stories are written by patients. They are not intended to nor constitute medical advice and are not fact-checked by a certified genetic counselor.