Category Archives: Rare Diseases

Behind the Mystery of: Rare and Genetic Diseases is a series produced with the intention of introducing and uniting patient, physician, and scientist with research, education and opportunity to revolutionize the way our health care system works for the Rare and Genetic Minority.

Lessons I’ve Learned Living With A Rare Disease

When I was nine days old my parents received a phone call from our doctor. There was something abnormal on my newborn screening test. I was diagnosed with Phenylketonuria (PKU). PKU is a rare metabolic disease in which the body cannot adequately process protein. Since then I’ve been on a low-protein diet, and I’ve had to drink a special formula full of PKU-friendly protein. For the first 31 years of my life I didn’t know anyone with PKU. I had adjusted to my lifestyle, not realizing the incredible benefit of connecting with other people with this disease. That all changed in November 2011.

I’ve been a professional news videographer and documentary filmmaker for the last 13 years. And so, in November 2011 I produced a short documentary about living with PKU called “My PKU Life”. It has since gone viral on YouTube and has been viewed all across the world. The film is now available with Russian, Portuguese, Dutch, and Italian subtitles. As the response to the film grew and grew I realized my life had changed forever. I’ve since become an advocate for PKU, newborn screening, and rare diseases. My career as a videographer has taken me across the world to Siberia and Ireland. But last year I had the unique honor of speaking at newborn screening symposiums in Finland and Brazil. As a creative professional it was indescribable to screen my film in those countries. But on a personal level it meant so much to me to speak about my life with PKU, and more importantly, to say thank you to the incredible newborn screening researchers and policymakers from across the world who helped me live a normal, productive life.

When I started to speak about PKU I realized I had to do some serious soul-searching. I had never spoken publicly about my life with this rare disease, and despite my practice of keeping a journal I had never written about it. I had adjusted to my lifestyle, and was comfortable with not speaking, writing, or even thinking much about my unique life with this disease. But I ultimately realized my life with PKU has taught me some valuable life lessons, and I think these apply to anyone affected by a rare disease.

First, I can’t control the fact that I have PKU, but I can control what I do with it. Control is an illusion. As much as I might wish that I didn’t have PKU, I still have it. I can’t control that. I can, however, choose to do something positive with it. Just talking about PKU on social media, for example, can make a difference.

Life is much easier when you’re not alone. Despite being alone with this disease for most of my life, recently I’ve been able to connect with hundreds across the world on social media. I can choose to remain isolated, or I can choose to develop relationships with others. I’ve chosen the latter, and have seen how connecting with others can make a profound difference.

Strength comes through weakness and vulnerability. As much as I’d like to take a “rugged individualist” approach to life, I have to face the facts. I cannot survive without my metabolic formula. It is medically necessary, despite what some policymakers and insurance companies might think. I am dependent on access to this medicine to maintain my healthy and active lifestyle. Some people view such vulnerability as a weakness, but I see it differently. If I’ve learned one thing in my life it’s that strength is an illusion. We are all vulnerable. But vulnerability is the foundation of healthy relationships. Living with my rare disease has taught me humility, thankfulness, and patience.

I cannot worry about what other people think. I will never change their minds. Some people will never understand the challenge of living with a rare disease. In my experience, some people don’t understand anyone who has health problems, much less people with rare diseases.  I’ve spent most of my life overly concerned with what other people think of me. But I’ve reached a point in life where I really don’t care anymore. I want a good reputation like anyone else, but not at the expense of my soul. If someone doesn’t understand or doesn’t care about my challenges living with PKU then I simply can’t obsess about that. Instead, I choose to be thankful for those who do.

Life can change in an instant, for better or worse. Therefore, I always have reasons to be thankful for what I have. In an instant it can be gone. When I was in Russia in 2011 there was a bombing at the Moscow airport. The blast occurred in the international arrivals area. I had been standing in the blast zone just days before the explosion. I’ve had some surreal experiences in life. When I was in TV news I covered the local angle of national stories like the Columbia Shuttle Disaster in 2003 and Hurricane Katrina in 2005. But being in a foreign country when a terrorist attack occurred, and when I had been in the blast zone just days before, was beyond surreal. Honestly, it was terrifying. When I came home I brought with me a new sense of thankfulness. I might live with a rare disease that can be incredibly challenging at times, but I am alive. I can never take life for granted, because in an instant it can be gone.

Thankfulness has become my lifestyle. I might live with PKU, but my life is much different than most people living with a rare disease. PKU can be screened and diagnosed at birth. And equally as important, it can be treated with a low protein diet and metabolic formula. But what about people who live with one of the other 7,000 known rare diseases? What about those situations where there is a diagnosis, but no known treatment? Or what about those cases where no one knows what is wrong, when the disease is completely unknown and parents live in constant uncertainty?

The PKU lifestyle is a great example of the benefits of research and development in the world of rare diseases. Every child born with a rare disease should have the same opportunity at life that I have had. That’s why World Rare Disease Day is so important. We need to continually remind people that rare diseases exist, not just to invoke sympathy, but to encourage people to take action. We need to continually remind policymakers of the value of newborn screening which detects various rare diseases. We need to encourage further scientific research to make sure that any child born with a rare disease can have a healthy life. To see any of these dreams become a reality we must continually advocate for rare diseases.

On behalf of all of us living with a rare disease, we need your voice! Please do something to let people know we exist. And if, like me, you’re an adult living with a rare disease, speak out about your condition and your lifestyle. I know how easy it is to remain silent, but those of us who are able have a responsibility to speak on behalf of those who are not. You might think it’s a cliché to say, “We can all make a difference.” But the greatest lesson I’ve learned is that it is true. If you will speak up you might be surprised at who listens.

By: Kevin Alexander, M.A.
President – Creative Control Films:

Kevin Alexander was diagnosed with Phenylketonuria (PKU) at birth. PKU is a rare genetic disease in which the body cannot metabolize protein. He has followed a low-protein diet and consumed metabolic formula, and has subsequently lived a normal, productive life. He is President of Creative Control Films and has over 10 years of experience in digital cinema & video production. In November, 2011 Kevin produced a short documentary called “My PKU Life”. The video has since gone viral in the PKU and rare disease community, and has subsequently been viewed all across the world. The success of the film has encouraged Kevin to become more active in advocacy for PKU. He is a guest expert and host of videos appearing on the Patient Power PKU Health Center website. His advocacy work, however, is not limited just to PKU but extends to newborn screening as well. He was the Keynote Speaker at the PerkinElmer Annual Newborn Screening Symposium in Naantali, Finland, and at a newborn screening symposium in Curitiba, Brazil. He is also a member of the International Society of Neonatal Screening and serves on the National Advisory Committee for Genetic Alliance.


National Rare Disease Day: Von Willebrand Disease

With National Rare Disease Day right around the corner, I thought I’d share how this day is important to our family. My (step) son was diagnosed with Von Willebrand’s Type 3, the most severe, when he was just a year old. After many stays in the hospital, the diagnosis brought relief and fear to his father and mother.  While they finally had answers to what their son was going thru, they had a new fear of what the future would hold.

According to the National Hemophilia Foundation, “Von Willebrand Disease is a bleeding disorder caused by a defect or deficiency of a blood clotting protein, called von Willebrand Factor. The disease is estimated to occur in 1% to 2% of the population.” This factor is critical to beginning stages of clotting.

“This glue-like protein, produced by the cells that line the blood vessel walls, interacts with blood cells called platelets to form a plug which prevents the blood from flowing at the site of injury.  People with von Willebrand Disease are unable to make this plug because they do not have enough von Willebrand Factor or their factor is abnormal. “

They say Von Willebrand’s is genetic but Joshua’s mother nor father have ever been diagnosed. In fact, when tested, all results show up negative. So, it’s unclear how and why this has affected him.   When I met Joshua’s father, I had no clue what Von Willebrand’s was. I had never heard of it. Joshua quickly taught me the ins and outs of the disease and what it means to care for himself.

This disease affects his life but we never let it become his life. While he’s not able to play contact sports for fear of injuries, which could be severe for him, he is a top soccer player who has the dream of going Pro. He’s well on his way, playing for two top teams and has recently joined the ODP (Olympic Development Program) to strengthen his skills.

If he gains too many bruises from a soccer game or even from playing outside, he has to be treated with the Von Willebrand Factor. While he’s not fond of treating, he’s fully capable of treating himself so we don’t have to call a nurse in. At 11 years old, he’s one brave young man and I can’t possibly describe how proud I am of him.

I know his father gets frightened sometimes when seeing a new bruise. He lived the early days with Joshua……when he could have easily died. When he was very close to dying. He lived the unknown…before they had answers. I also know how frightened I get. Having not dealt with this for Joshua’s entire life was scary for me. What did it mean? When helping him with his treatments would I hurt him? Was I doing it all right?  The first time I saw him stick himself with a needle, I cried.

An 11 year old boy has the strength and the courage to know what to do in a state of emergency to care for himself. I know adults that could never do what he does. When I told him I was writing this article, he just so happened to be treating himself that day. At his suggestion, I took a few photos of the process of a treatment.

Here’s a bruise Joshua got playing soccer. Seeing a bruise like this is a red flag that it’s time for a treatment. While it may be nothing, you have to be safe.

This is the factor we inject Joshua with. It’s AMAZING how quickly this can stop a bleed.

Mixing the medicine

Getting the needle in place. He’s pretty good at hitting his vein the first time!

In the factor goes…..

Will we always deal with this with Joshua? Yes. Unfortunately, we will. If he falls too hard…if he cuts himself…..if he bruises too big…..there’s always a fear of an internal bleed….we, as parents, will always worry. But, we will never allow Joshua to stop living. He can live a perfectly normal life. He may have to be a little more careful. He may have to avoid some activities other kids love doing like something as simple as jumping on a trampoline. But he focuses on what he CAN do.

I am so proud that, even as a young child, our son can teach others how to treat themselves. He can teach them how to live and how to never let your disease control your life. He shares his strength at a hemophilia summer camp and was recently asked to attend an infusion clinic to show other children they can treat themselves too!

So, National Rare Disease Day is important for our family. This day is about raising awareness worldwide of the experiences families face with rare diseases.  Experiences your own friends and family are facing. Experiences you may not even be aware of.


My theme for 2012 was vitality, as I mentioned in a previous post. After reflecting on what vitality meant for my experiences in 2012, I thought of what has now become my motto for this year. “My disease may be in my genes. But it will never chose my destiny.”

The easiest way to describe Gardner’s Syndrome is that having it means I have a 100% chance of having colon cancer at some point in my life. For a period of time after I was diagnosed, I thought cancer was a part of my future and there was nothing I could do to change it. It was only after I had been in remission for two years that I even considered going to college. After I was accepted to college, I still worried that my disease would return, leaving me in debt without finishing my degree. Cancer was living my life for me before I even had it.

I still haven’t had cancer. In fact, this past summer I had no polyps. Even though I have been in remission for almost 8 years, I still find myself asking “what if” before I face my yearly colonoscopy.

When I first started writing, before this blog, all my “what ifs” were about my fears. What if I get a desmoid tumor? Will I have children who have my disease? Would having children, knowing that there is a 50% chance they will have my disease, be cruel? What if I have cancer this year? If I have my colon removed, what will be next?

When I wrote about all my “what ifs”, I only was focusing on the future. I don’t even know if cancer will be in my future. Right now, I am in healthy and in remission. But when things become stressful, it’s so easy to focus on the future. But I no longer believe that all of my “what ifs” are going to be a part of my future.

No matter what happens, I will always have a mutated APC gene on my chromosome 5. What I do with this knowledge will determine my destiny. I know that if I did nothing, I might have had cancer by now. With Gardner’s Syndrome, doing something is better than nothing. I have knowledge than many people who face cancer don’t, I know that I am at a huge risk for it. While cancer catches most people by surprise, I have time to prepare for it.

This year, one of my goals is to fight back against Gardner’s Syndrome. The past 7 years that I have been in remission, I haven’t done much to fight back besides taking a pill everyday. But this year, I’m changing my diet and getting serious about exercising regularly. Basically, I plan on doing everything that typical people do to protect themselves for having colon cancer.

In the past, it seemed like my disease was my destiny. I thought my life would revolve around my health. It’s easy to write about being scared of cancer, having children with my disease, and desmoid tumors because I have seen my family go through it. It’s easier to give up than to fight my fears. I know that because I have almost given up before.

But maybe, somehow, this disease could be a part of my destiny. How could having a disease be a part of my destiny, or anyone’s destiny for that matter? For me, I see my disease as a gift and a blessing. I have had to see things and go through things that I hope no one ever has to experience. But challenges will always be a part of life.

Today, I started my final quarter of college. As I am writing this, I am asking myself how my disease has shaped my life. I have chosen to fight back and remission has allowed me to pursue opportunities and take a path in life that I may not have taken if my life were different.

I know what the outcome would have been if I gave up. But in not giving up, the possibilities are endless. I will never know how long my remission will last. But I think it’s time to stop asking “what if my polyps come back” and to start asking “what if my polyps never come back”. I will never know what my future holds. Right now, I don’t have polyps. If I live my life guessing when I will have to part ways with my colon, I won’t just be possibly missing life with a colon one day…I’ll have missed out on living. I have control of my destiny. My disease will always be a part of my life. But I can chose what roles we play. I could be the bystander and let my disease control my destiny. Or I could be the artist, and turn my disease into something beautiful.

By: Alyssa Zeigler

Alyssa the fourth generation of her family that has been diagnosed with a hereditary colon cancer disease. She was diagnosed with Gardner’s Syndrome when she was 14. Having Gardner’s Syndrome basically means that she would have a 100% chance of having colon cancer at some point in her life if her disease went untreated. At the time of her diagnosis, she did not have cancer yet but she had polyps. Her family chose to try to avoid surgery and instead opted to try a NSAID medication to see if her disease could be slowed down. Eight years later, Alyssa’s disease is in remission and she is currently living polyp-free!

Alyssa is currently student at Western Washington University where she studies psychology and will be graduating in March. After graduation, she hopes to continue blogging. Alyssa hopes to pursue a career that involves helping others. Some careers that she has in mind include nursing, advocacy, or special education. She is currently working with the F.A.P Foundation to help create social resources for people whose lives have been touched by hereditary colon cancer diseases.

Alyssa has also written a memoir about her experiences living with Gardner’s Syndrome and hopes that she can publish it as an ebook by February. She hopes that her story will encourage others to find meaning from their own experiences. She also enjoys hobbies such as playing sports, photography, and writing. Her blog can be found at

Reliving the Nightmare

I have some form of neutrophilic dermatosis. Sweet’s Syndrome is a close diagnosis. I have either a very rare variant Sweet’s or another form of neutrophilic dermatosis yet to be determined. The following is a series of photos of my skin from my last bad breakouts (I still have daily breakouts, but I have not had a breakout this bad since.)

I am finally willing to share a few more of my photos from my outbreak last July. I have been hesitant to share more because every time I see them I actually remember that pain and have a physical reaction.

I’ll be updating this post again soon with photos from July 29 if I can find them.

July 28, Day 2

High Fever, Chills, Severe Pain



This is also how my chest looked. My chest is still scarred more than six months later.

CLOSEUP OF LEGS (notice the white edges, then red and purple inside)
This is how my upper legs looked all over, front and back. My buttocks, stomach and lower back also were covered like this.

Trust me, this is far more painful than it looks.

Notice the edema. My entire body was swollen, but it was most noticeable in the hands.

LOWER LEGS (Upper legs were so much worse, but I’m still not ready to share those photos.)

July 29, Day 2

This is after I got home from the ER, where I had been all day. Notice how “inflated” my hands and fingers are.

Notice how swollen my hand is in the second photo below. The bullus spots look like giant blisters.


July 30, Day 3

This is the day after my visit to the ER and after 80 mg of Prednisone.


With Biopsy Site


By: Rhonda Negard

Rhonda was diagnosed with Sweet’s Syndrome in July 2012 after suffering from its symptoms for 16 months. This rare disease has taken its toll on her body but not her spirit. She releases her frustrations by blogging about the disease in order to spread awareness to the media, medical community and the public. Her goal is for the medical community to learn about this horrible disease so patients will be diagnosed sooner. More research for effective treatments, beyond long-term corticosteroids, is the second goal. The more research that is done, the sooner an effective treatment, or even a cure, will be identified. All of this means less suffering for those with Sweet’s Syndrome. Rhonda is married to a military serviceman and works from her home as a graphic designer.

And then I’m all like, “I’m a chronic illness GENIUS.”

In the 22 years that I’ve stuck it out– I’ve owned companies, met my soul mate, am raising my second poodle, live in a decent apartment, am one credit shy of my degree, published articles, published books, met some heroes, made some friends, and one more thing….

…was diagnosed with not one, but two rare diseases with doctors estimating there must be one more that remains undiagnosed.

Considering the fact that I’m TWENTY TWO as in not EIGHTY TWO I can sometimes get a little pissy about the 10 medications I take every morning to wake up, the five hours I spend every week getting infusions, and the fact that even during my best months—I can’t always maintain my client base with my continuously interrupted schedule.

Lately it seems that If you were looking for a pattern to my life, it would be one step forward and two steps back.

I’ve learned some things since my body up and crapped out on me: Chronic illness is complicated.

See–Chronic illness doesn’t care if you have things to do. It doesn’t care if you can’t walk down the aisle on your wedding day. It doesn’t care if you have to struggle to sit through your graduation ceremony. It doesn’t care if you sleep well, eat well, or take your medicine on time. It doesn’t care if you’ve got a big meeting in the morning, or a special dinner later tonight. Chronic illness is kind of an asshole. And if you have it—sometimes you’re going to feel like one too.

Like when you miss your best friend’s birthday party because of it.

Or when you hem and haw about buying plane tickets to New York because you just don’t know how you’ll feel on those days.

Or when your dog just wants to play and you just can’t.

Sometimes it serves a purpose. Like knowing all the best pick-up spots for chicken soup. Or always having a spare painkiller/anti-histamine/lozenge/sleeping pill in your purse for the friend in need. Or just being the one who constantly makes the whole group take bathroom breaks when one of them has just drank a 42oz Gatorade.

But however limiting, degrading, time and energy thieving chronic illness might be—life with it is (ironically) all about making choices.

The more I learn about my disease, the more I try to take responsibility for it. I recognize that whatever I do right now is going to affect me later on. I know that NOT speaking up and going to the doctor when symptoms strike usually means that they’re going to get worse, not better. And I realize that not sucking it up and dealing with it on certain occasions can mean the difference between the people around me respecting me or alienating me.

Life with chronic illness is about managing expectations while keeping the hope alive enough to still make plans for the future. Its knowing that there is nothing wrong with wanting when there is still the hope of having.

I’ve thought about a lot of ways I could cope with all the mishegoss in my life. After some research I realized that support groups are depressing and misery?—boy, it just LOVES company. I also got that listing off my complaints one by one to my boyfriend is probably as painful to him as his recounting a particularly intense chemistry experiment to me.

Which is why I’ve been kind of stumped about whether or not to start a blog. Rewind: To me, blogging is like the number one solution to any problem in my life. Unemployed? Start a blog! Stressed out by pet ownership? Blog about that sh*t! Ten pounds overweight? BLOG IT FROM THE MOUNTAIN TOPS!

But what could blogging about a chronic illness really accomplish? Was it going to make me feel better? Last time I checked blogs can’t pull out an infiltrated IV—I don’t even think they even qualify to dispense ibuprofen.

So I did my research and started to see what chronic illness bloggers were actually getting out of their websites. After some reading I started to get it—here were all these posts bitching and complaining and getting melodramatic about the woes of not being able to get through the grocery store—and I realized: that was such a simple problem. Hell, I’ve had that problem for years—and now I know how to deal with it. Because I’ve been there.


I’m like a chronic illness genius compared to these ND&L’s (Newly Diagnosed and Lost.)

I have notebooks full of tips on how to not die and how to even LIVE on a daily basis. I could probably, actually help someone have a significantly less sh*tty day!

Poof. Blog created. Let’s do this: LETS FEEL BETTER!


The difference between being diagnosed with a rare disease and being diagnosed with breast cancer is a powerful comparison made by Nicole Boise on yesterday’s segment of Unveiling the Mystery: Rare and Genetic Diseases on Lifetime TV’s Daily Morning Talk Show: The Balancing Act.

Click on the picture to see the video!

It’s so absolutely PLAIN to anyone with a rare disease, but few people actually take a moment to fathom what it must feel like to walk into a doctor’s office and to know with a few simple and readily available tests that:

  • -You have a disease
  • -You have local support
  • -You have national support
  • -You have millions of dollars being donated daily to the research of your disease
  • -There are millions of resources on a financial, emotional, and educational level at your disposal
  • -The stigma associated with your disease is one of bravery, championship, and fight

Whereas when you have a rare disease you’re walking into a situation where not only do you personally know nothing about your illness—but neither do your doctors, your friends or family, local mental health resources, and sometimes even Google doesn’t turn up many results!

“Rare Disease is not RARE,” says Boice, who cites over 7,000 diseases which fall under the criteria of “rare.”

Nicole founded The Global Genes Project, an organization literally formed to organize for a sense of advocacy to those in the rare disease community—from children to adults, genetic to immune issues, and for patients across the globe who seem to stand alone in their efforts.

The work of the Global Genes Project is extremely important. Without their tireless efforts to unite this community of patients who fight in their search for answers, information and cures—to the desperate parents who fight for the children who can’t yet fight for themselves—there is absolutely something to be said for idea of strength in numbers.

My Daughter and Cystic Fibrosis

Pregnancy with my daughter Maggie went so smoothly I feel guilty talking about it. Besides some mild morning sickness and a flash of heartburn here and there, we were both so incredibly comfortable with her in the womb that she was still in there two weeks beyond her due date. But that’s where the comfort and ease ended. Once labor started, life got rough. Maggie and I both developed fevers and when she was finally born 16 hours later, she was taken to the Neonatal Intensive Care Unit for evaluation. Doctors tested her for anything that may have caused her fever, but they never found the source. After four days, she was sent home with a clean bill of health. But the relief and promise of good health was short-lived. Just two days later our lives were forever changed by four painful words from the pediatrician, “She has cystic fibrosis.”

Unlike my husband, I had never heard of cystic fibrosis (CF). I didn’t understand the words. I had no idea what it meant for my daughter or how drastically our lives had just been altered. I prayed repeatedly for the doctors to be wrong, for the tests to be wrong. But they weren’t. At just 6-days-old, my daughter’s life was given an expiration date and I was left wondering why.

Maggie is one of only 70,000 people in the world living with CF, a life-threatening, progressive, unpredictable, and incurable genetic disease. Despite the fact that only 30,000 Americans have CF, 1 in 33 Americans is a carrier of the gene and in 1 in 400 couples, both partners are carriers. Of those couples, there is a 25% chance any child they create will have CF. Maggie has only a 50/50 chance of living to see her 37th birthday.

Within a few days of Maggie’s diagnosis, we were visiting specialists and learning how to take care of our daughter. Her daily routine would include hands-on chest percussion therapy and pills to help her digest food. But that was just the beginning. Over time, we would add nebulized medications, special vitamins, inhalers, and a $16,000 machine to help clear her lungs of mucus.

Now, Maggie is almost four years old and already has mild lung disease. To keep her as healthy as possible and alive, each day she does her treatments without fail. As soon as she wakes up, she uses an inhaler of Albuterol to open her airways. Then she does a 10-minute nebulized medication called Pulmozyme to break up the mucus in her lungs. This is followed by 20-30 minutes of The Vest, an airway clearance device that vibrates, shaking her lungs so she can cough any mucus out. Throughout her day she takes over 16 enzyme pills to help her absorb food (her pancreas doesn’t work) so that she doesn’t die of starvation, as well as numerous medications and vitamins to help her stay healthy. Before bed, she uses the Albuterol inhaler and does another 20-30 minutes of The Vest. When she’s sick, she does nebulized Albuterol and The Vest four times a day for 20-30 minutes. None of this guarantees that she will stay out of the hospital, won’t need a lung transplant, or will even live to see age 37. But it does help. In the 1950s, children with CF could only expect to live to age eight. So while the treatments are inconvenient and Maggie doesn’t always want to do them, they are a blessing because they are literally keeping her alive. As she ages, more will be added to her routine, because CF is sneaky and progressive, and can take a person from healthy to dying with one respiratory illness.

Until a cure comes, every cough is frightening and ever sneeze makes us jump. While we do have fear for Maggie’s future, we also have hope, because the CF Foundation and Vertex pharmaceuticals are working on the next best thing to a cure – medications which target the underlying cause of CF, rather than therapies to treat the symptoms. These drugs, which are still in trials, hold the possibility of a normal, healthier life span for children like Maggie. And isn’t a long, healthy life all a parent really wants for their child?