TLC's 'Two in a Million' Introduces People With Rare Conditions


TLC’s new series “Two in a Million” premiered on Wednesday — a show that pairs people who share a rare condition. In each episode, two people with “some of the world’s most unusual disorders” spend a week together “sharing hardships and incredible triumphs, visiting world-renowned doctors and finding answers to important questions,” according to a press release.

In its first episode, Gioavanni, 7, (who we’ve written about on The Mighty before), and Owen, 9, meet. The boys both have Schwartz-Jampel syndrome, a rare genetic disorder characterized by abnormalities of the skeletal muscles, abnormal bone development, permanent bending or extension of certain joints in a fixed position, and/or growth delays resulting in short stature, according to the National Organization for Rare Disorders (NORD).

Former Raw TV intern Jonna McIver came up with the show after filming a student documentary on Owen.

“When we saw (the film) in the office, it made us all cry,” Adam Hawkins, senior vice president of development at Raw, told CNN. “We realized that it explored ideas about loneliness and isolation that we then worked up into a bigger series idea. We wondered, what if Owen had ever met anyone else with the same condition — and what it would be like if he did.”

Thanks for joining us for #TwoInAMillion last night, we hope you enjoyed the story. Here’s more information on Owen & Giovanni’s disease, Scwartz Jampel Syndrome (and some adorable photos from last night’s ep) Posted by TLC on Thursday, April 7, 2016
  This season’s six episodes will also feature people with ectodermal dysplasia, an inherited multisystem disorder that typically affects the hair, teeth, nails, sweat glands and/or skin; lamellar ichthyosis, a genetic skin disorder; osteogenesis imperfecta, a group of disorders affecting the connective tissue and characterized by fragile bones; Jarcho-Levin syndrome, a genetic disorder characterized by distinctive malformations of bones of the vertebrae and ribs; and Goldenhar syndrome, a disorder that involves malformations of the eyes, ears and spine.  




Learning to Live in the Moment With My Daughter With a Rare Disorder


In August 2012, just one month after my daughter’s first birthday, I found myself sobbing hysterically in my doctor’s office following a series of scary panic attacks. “Was there much stress in my life?” she asked. “Yes,” I responded. “My grandfather recently passed away, and the chief of staff at work had suddenly died just two days ago. And…and I am worried about my daughter.”

Glenda McCoy's daughter
Glenda’s daughter during her first hospital stay.

At day care, she made her mark in the nursery as the fastest crawler of the bunch, even earning the nickname “Flash” for her speed. She was reaching developmental milestones ahead of time, and I recall worrying she would be walking as early as nine months.

Instead, as the months passed, I watched her peers, and eventually younger children, take their first steps while my daughter continued to crawl. I felt silly to worry. After all, she was only 13 months old…then 14 months…then 15 months. Many moms reassured me their own children didn’t walk until later. My husband’s aunt didn’t walk until she was almost 2. Research reassured me that walking as late as 17 months was within the “normal” developmental range. “Any day now” and “You’ll wish she wasn’t walking when you’re chasing her all over the place” were common phrases I heard during this time.

When she still was not walking by 15 months old, I decided to seek the assistance of physical therapy. I silently struggled during this time. My motherly instincts told me something more was going on. Despite weekly visits to occupational and physical therapists, she still wasn’t walking as she approached her second birthday.

Photo of trees by Glenda McCoy
A scene Glenda witnessed that gave her hope.

I sought solace in the outdoors, taking daily walks on my lunch break at work to observe and photograph the beauty around me. Only then was I able to stop worrying. Photography was my therapy, my outlet, my voice. I looked for hope everywhere and would take a photograph to remind myself that hope existed and was right in front of me; however, I needed my camera to show me.

But still, there were many lonely, stormy days.

As she approached her second birthday, I began to ask myself the really hard questions. Why wasn’t she walking? Would she ever walk? Is there something more we should be doing? Is there a more serious underlying issue?

We decided to take her to a neurologist who agreed it was best to perform an MRI to see if there was anything going on in her brain.

I had prepared myself for bad news, but nothing can prepare a mother for the news that her child is dying of a rare genetic disorder. Now I fully understand why the mind erases tragically painful moments. As my legs gave out beneath me, I fell to the floor in utter despair and heartbreak, screaming at the top of my lungs that this wasn’t really happening. I have no doubt a part of me died with this news.

Photo of Glenda McCoy's husband and daughter
Glenda’s husband and daughter at the park after her first MRI.

I don’t remember much after that moment — and wouldn’t remember much of the next few months — except looking over at my daughter on the floor beside me and seeing her sweet smile. I felt dread when I was told she was going to die, but she was alive in that moment. She was hungry. She needed her diaper changed. She wanted to hear a bedtime story and hug Mommy and Daddy before going to sleep. A voice told me I had to stand up and take care of my daughter.

I let her be my guide each day. I would ask her what she wanted to do, and we simply did it.

Each day became a little easier, and my breakdowns came less frequently. Once again, I turned to my camera for comfort. When I looked into the lens, I was living in that frame. There is no tomorrow in that moment — just that second captured for all time. I can blur out the background and focus on my daughter’s smile, the twinkle in her eyes, the space between her two front teeth, the dimple in her cheek or her little hands splashing in the water. The world stops and I am at peace.

I don’t know what tomorrow brings. None of us do. Each day I share my photographs with friends and family on a Facebook page dedicated to her and tell them a story that doesn’t always require words or sometimes can’t be expressed with them.

As we continue ahead on our journey, I see a brave, happy and joyful child who meets every obstacle or challenge with the biggest smile and the most positive attitude. I see a future with many more photographs of accomplishments, milestones and laughter. In all of my pictures, I see an abundance of love and know I’m giving her the life she deserves.

The hands of Glenda McCoy’s daughter
Glenda’s daughter’s hand.

The past few years have been excruciatingly painful and tough, but I have learned a very valuable lesson: You never know what the next second of your life will bring. My daughter guides me daily and reminds me that each moment is precious; each day is a gift. She has taught me the significance of the quote by the Italian writer Cesare Pavese: “We do not remember days, we remember moments.”

I have learned to enjoy and live in the present because it truly is the only moment that matters. I’m a new person with a new perspective — and I have the sweetest little girl to guide me in my new life.

Follow this journey on Hope for Katherine Belle.


8 Things I Wish I Knew When My Child Was Diagnosed With a Rare Disorder


In less than two weeks, we will be celebrating the one-year anniversary of our daughter’s diagnosis day. When she was 8 weeks old, after a month of being officially diagnosed with epilepsy, we learned the cause of her seizures was due to a genetic mutation known as CDKL5 (a rare genetic disorder that results in difficult to control early onset seizures and severe to profound developmental delays). In honor of this day, I would like to share a list of the eight things I wish I knew when my daughter was initially diagnosed with a rare disorder.

1. You will need time to grieve.

Grief is not solely reserved for those who have physically buried a child. While you have not lost your child to death, you have lost the “healthy child” you anticipated you would have. It takes time to come fully to terms with your child’s diagnosis. Do not rush the process. Even a year after the diagnosis, there are still days that result in grief. Grief over the past, grief over the present and grief over the future life your child may lead. Grief comes in waves and you should not expect to just “get over it.” It is OK. Allow yourself time to grieve over the expectations you had prior to the “finality” of the diagnosis.

2. Do not be consumed by your grief.

While it is more than appropriate to grieve, it is important not to let that grief overshadow the physical presence of your child. You never know how long your child will be here on this earth and you don’t want to waste your precious time with him/her missing out on the joys of parenthood that do exist. Live each day with as close to zero regrets as possible, so if God forbid you have to say goodbye sooner than you anticipated, you will not look back and say, “I wish I…”

3. Having your child receive his/her diagnosis at an early age will not necessarily change the outcome. 

baby sitting in car seat on the floor
Randi’s daughter sitting in her car seat.

Not everyone is “fortunate” enough to have his or her child diagnosed when he/she is 8 weeks old. We thought for sure that our daughter being the youngest child diagnosed with CDKL5 would mean that she would surpass the other children in the ages she would attain developmental milestones. We thought since we had so many parents giving us advice regarding what they would have done had their child received their diagnosis early, that our daughter would be able to accomplish more and avoid more of the hurdles. In the end, you can be as “prepared” as humanly possible, you can think you can outsmart the disorder, but when your child has a rare disorder, the rare disorder will still run its course.

4. Having a diagnosis will give you closure in one sense, but will also leave you with doubts regarding the future.

You will hear many times that “At least you know,” or “You are so lucky your child was diagnosed at such a young age.” This is true on one hand, as you have a support group available, you have a “projected route for your child’s journey”, and now all the symptoms your child displays make sense. On the other hand, you are seeing first-hand the ugly side of the diagnosis. You will witness the struggles that potentially lie in your child’s future. You will see babies and young children die along the way. You are seeing a glimpse into the potential life your child will lead. You can no longer hide yourself from the facts. You are no longer able to be blissfully ignorant. This can leave you feeling sad and defeated. It is OK. Take it all in and know that every child is different. Your child will write his or her own story and follow her own path. Just follow their lead.

5. You are not a failure.

There will come times following your child’s diagnosis that you will look at other children and see their accomplishments and feel like it is your fault your child has not accomplished the same milestones. All children develop individually at their own speed and have their own unique strengths. What your child can and cannot do is not a reflection of how much time, energy, effort and love you are pouring into your child.

6. Do not judge the parents who have older children with your child’s diagnosis. 

When you look at children who are older with the same diagnosis as your child, your thoughts may wander to, “Well, if they knew early on, then they would have been able to do this and that by now.” You may think enrolling your child in every therapy imaginable will make all the difference. Keep in mind that all those children were babies themselves and their parents did what you are doing now, and they will always do right by their child as you will do for yours. Just because you do not see their child meeting milestones does not mean these parents are not working with their child every day.

7. Lean on the parents of other children with your child’s diagnosis for support and guidance. They will be your best tool.

If you are as lucky as we have been to have an amazingly active and supportive online community that has children with your child’s diagnosis, become part of it. Immerse yourself, make friends and get to know the other children and parents. They will be there in your time of need. They get it. They will lift you up when you are down, they will sing praises when your child excels. No one knows what you are going through better than fellow parents. No matter what part of the journey each parent is on, each mom and dad will welcome you into their lives as if you are family, because you now are.

8. Trust your parenting gut.

You will spend a lot of time in and out of doctors’ offices and hospitals. You will find professionals who have your child’s best interest at heart and others who will not. Regardless, no one is a better judge of what is going on with your child than you! Trust your intuition and trust your knowledge. You know more about your child than any doctor does. Always go with your gut!

Follow this journey on Sonya’s Story or on Facebook.

The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.


3 Things I Want to Tell the Mom Receiving a Rare Diagnosis


Today may feel like the hardest day of your life. Whether or not motherhood is something you planned and dreamed about, you likely fantasized about the life of the person you carried inside of you. Would she look like me and have red hair, enjoy gymnastics and cheerleading, have a great sense of humor, and/or become the first female president?

Whatever it is you imagined for your child, it probably was not a rare disease. Disease, struggle, and/or early death is not something anyone wants for their child.

little girl on grass with walker
Glenda’s daughter at her school’s Easter egg hunt.

1. It is OK to mourn the health and life you wanted for your child.

Doing so does not mean you love your child any less or make the statement that you don’t want a child with a disability. Of course you want your child to live a long, healthy life with as little struggle as possible. It is natural to grieve the life you wanted for your child and to do so unapologetically.

2. As this grief lessens, you will imagine a new life with your child.

My daughter is constantly inspiring me with her determination, strength and perseverance. I cannot even begin to imagine what is in store for her because she is my teacher. Before this diagnosis, I naturally viewed everything from my worldview; now I have the opportunity to see it from her perspective. She does not seem to feel sad or angry or disappointed about her disease. This is her life and the only life she knows. Allow your child to show you that a well-lived life isn’t always the way you imagined it.

3. Don’t let anyone define your child.

People will put your child in a box because that’s how information gets organized. Encourage others to think outside that box. It’s easy to put a label on somebody and file them away with other “stuff” we don’t understand. Your child deserves better, and if you don’t advocate for them then nobody will do it for you. Just as your child taught you your new worldview, share your new perspective with others.

little girl in white dress smiling
Glenda’s daughter.

Follow this journey on Hope for Katherine Belle.

The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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Dear Doctors: Please Don’t Call Our Daughter One of 'Those Kids'


Nearly a year ago, my husband and I were the happiest expecting parents ever. We were taking pictures of my huge baby belly shortly before contractions started and we had to head to the hospital. When I look at these pictures, I remember exactly how I felt, and I know that the smile on my face was from the very bottom of my heart. We were blissfully unaware that our lives were about to be turned upside-down.

Sanaa, her husband, and daughter Mia pose with a bouquet of flowers.
Sanaa, her husband, and daughter Mia

Our baby girl was born with an extremely rare syndrome affecting her eyes, heart and skeleton. Since her birth we’ve lived in hospitals, spent endless hours in specialists’ waiting rooms, and learned more medical jargon than we’ve ever thought we would.

We are extremely grateful to the health care professionals involved in our daughter’s care. Our baby was born blind and surgeons made her little eyes shine. They allowed our little girl to see the world, and for that we’ll be eternally grateful. We are also grateful to the kind nurses who took care of her, and sometimes us, after each surgery. We are also grateful to the amazing therapists who are going with us along the way and allowing our baby girl to develop amazingly well despite hospital stays and endless treatments.

Nevertheless, there’s one thing I’d like the health care professionals to know: Please be mindful of the words you use. Your words have a bigger impact than you know.

I recently left a specialist’s office feeling sad. It was a routine checkup, and I had no reason to feel the way I felt. I had to question my own feelings to realize that it was because of the words he used to talk about my baby. He explained that “these kids often have poor appetite.” I felt a sudden urge to come back to his office just to ask him: Which kids were you referring to? Did you mean the cute baby girls? Did you mean the adorable and affectionate 1-year-olds?”

The truth is that it wasn’t the first time my baby has been referred to as one of “these kids,” and it hurts every single time. It hurts because I feel it’s stigmatizing and because it defines my baby girl by what she has. The syndrome is what my baby has, not who she is. We are fighting every single day so that the syndrome she was born with doesn’t have a negative impact on her life, and doesn’t define who she’ll grow up to be.

My baby girl is barely a year old. She’s spent way too much time in hospitals. She’s had a few major surgeries and there’s more to come. But you know what? Our daughter is just the precious little baby girl we were waiting for when we were taking these pictures shortly before her birth. She’s our sunshine, and she’s everything we dreamed she would be: a loving, joyful, curious and bright little one. She gave us the same joys her older brother gave us in his first year of life. She blessed us with her first smile and first giggle. Like other parents, we watch our videos of her over and over again: the first time she crawled through the living room, the first time she stood up…but the video we watch the most is the one where at 2 months old she opened her eyes following surgery and saw the world for the first time. Words can’t describe how we feel when we watch this video.

We are not the parents of one of “those kids” with a unbelievably rare syndrome no one has ever heard about. We are the parents of amazing little fighter Mia G.

To the health care professionals: It took us more courage than we knew we had to rise up to the challenges of raising a child with a serious medical condition. Please make sure we don’t need to find more courage just to overcome your words.

The Mighty is asking the following: Describe a moment when you were at a hospital and a medical staffer, fellow patient or a stranger made a negative or surprising comment that caught you off guard. How did you respond to it? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.


10 Practical Tips for Parents Feeling the Shock of a Rare Disease Diagnosis


This is a day you will never forget: The day a doctor tells you your child has a rare disease. I recall doctors using medical terminology I’d never heard before while showing me MRI images I didn’t want to see because I didn’t want it to be true.

The initial shock felt like a really bad nightmare. How had I lived 36 years without ever hearing about this horrible disease? It was incomprehensible to me that this disease even existed in the first place, let alone that our precious child has the misfortune of having it. How was this even possible? Why is this happening to my child?

Statistically, we had a better chance of winning the lottery, but the news was the complete opposite. The clinical diagnosis was worse than I ever imagined: I was told my then-2-year-old had a progressive neurological disease with a life expectancy of four to 10 years.

Every experience is different, but here are a few practical things I’ve learned by being the mother of a child with a rare disease:

1. You are the expert when it comes to your child.

My daughter’s initial diagnosis was incorrect. That’s right. Turns out she has a completely different disease. We are all conditioned to believe doctors know all the answers, when in reality they do not. What they do offer is a background of extensive medical training and perhaps most important, the experience of seeing countless patients with a similar presentation of symptoms, etc. so they can diagnosis and treat you. However, when your child has a very rare disease, most have never seen a patient like your child. An excellent doctor will acknowledge that the parents are the experts when it comes to their child’s rare disease and ask for your input.

2. Instincts are more scientific than a doctor’s best guess.

Again, when the diagnosis is rare, parents may know more than the professionals.

3. Ask a friend or a family member to go to appointments with you to take notes (or record the appointment). 

Medical terminology and genetic information gets confusing fast, especially when hearing it about your child.

4. Don’t be afraid to seek grief counseling.

This diagnosis will change your life in an instant and take you on a wild, emotional roller coaster ride. Your marriage, family, career, finances, emotional well-being and personal health will suffer from this diagnosis. Seek guidance.

5. Take care of yourself. 

You hear it every time you fly on an airplane: Please secure your own oxygen mask first before you try to help others. I constantly fail in this department, but it really is one of the best things you can do for your family.

girl standing on beach
Glenda’s daughter

6. If you don’t advocate for your child, nobody else will do it for you. 

You can do as little or as much as you want, but it all begins and ends with you. That said, there are many individuals and organizations here to help you navigate your way. Some of my best resources are other parents farther along on this journey. Network with them via social media and ask for their guidance. Rare disease organizations, patients and parents are gaining a stronger presence each day.

7) You are not alone. A rare diagnosis can feel really lonely, but there is a community here to support you. They may not live in your community per se, but social media is a powerful tool to unite virtual communities across the globe. Although our children may have different diseases, we all share a similar journey. Find a group you feel comfortable with and share your story.

8. Don’t rule out science.

Our child was diagnosed through whole exome sequencing after being misdiagnosed by two doctors. Advancements in genetics are being made dailyDaily.

9. Allow others to help you.

Your friends and family will feel helpless. Sometimes the best gift you can give others is allowing them to help you.

10. You will learn to live in the moment and enjoy your child even more.

Which might be the greatest gift on this journey, albeit a hard-earned one. There are tough days ahead, but there’s also an abundance of love, joy and precious moments with your child.

black and white photo of young girl
Glenda’s daughter

Follow this journey on Hope for Katherine Belle.

The Mighty is asking the following: Create a list-style story of your choice in regards to disability, disease or illness. It can be lighthearted and funny or more serious — whatever inspires you. Be sure to include at least one intro paragraph for your list. If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

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