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.
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 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!
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.