Madison in a swing wearing glasses, a little girl with a rare disease

How My Brother's Early Death Inspired Me to Capture Families With Rare Conditions

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When my mom was pregnant with me, she had the 300th amniocentesis performed in the United States. Amnio is used around the fourth month of pregnancy to detect genetic abnormalities in a developing fetus. My mom had reason to worry. Her first child, Rafi, died before I was born. He had Tay-Sachs disease. He was 3 years old.

Rare genetic diseases such as Tay-Sachs are not as rare as you might expect.

According to Global Genes:

30 million people in the United States are living with rare diseases, which equates to 1 in 10 Americans or 10 percent of the U.S. population.

In the US a condition is considered “rare” if it affects fewer than 200,000 persons.

Approximately 50 percent of the people affected by rare disease are children and 30 percent of them do not live to see their 5th birthday.

95 percent of rare diseases have not one single FDA approved drug.

Fortunately, my mom received good news following that 300th amnio more than forty years ago. I’m healthy. My kids are healthy. But I often think about what my parents’ lives must have been like while caring for my brother Rafi, and all those other families coping with similar diseases. A child with a rare disease requires commitment from the family every moment, of every day. It steals precious time as families battle insurance companies, search for solace and struggle to manage everyday tasks.

Coping with such illnesses can also provide moments of profound dignity, grace, transcendence and joy. As a professional photographer, I’m working on a book that will provide a record of such moments, illuminating what it means to be a family, as well as what it means to be human, no matter how compromised your existence or how brief your time on earth.

To support the project and see some of the work in progress, please visit my Kickstarter campaign. All proceeds from the book will be donated to research for rare genetic diseases affecting children. Thank you for your support.

The Mighty is asking its readers the following: What’s one secret about you or your loved one’s disability and/or disease that no one talks about? Check out our Submit a Story page for more about our submission guidelines.

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When I Learned My 8-Month-Old Wouldn't Survive Past 3 Years

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Helene's son, Samuel.
Helene’s son, Samuel.

We weren’t supposed to have a fourth child. We had agreed to stop after our daughter was born. But I changed my mind and convinced my husband we should have another child and that our family just didn’t feel complete yet. When Samuel was born, he shocked us all at 10 pounds and 14 ounces. He was huge and perfect and he fit right in our already busy lives. He was the easiest baby, always smiling and loving all the attention bestowed upon him by the older ones. He was so strong. At 3 months old he could turn onto his tummy and at 6 months old, he could push himself backwards across the living room or stand on all four.

But he didn’t grab or manipulate his soother, his bottle or his toys. I figured he might need glasses since poor eyesight runs in my family. The optometrist agreed he was farsighted and because his retina was somewhat discolored, she would refer him to see an ophthalmologist a few months later. By then Samuel’s eyesight had declined even more, he informed us the cherry-red spots in Samuel’s eyes indicated a systematic issue and told us a geneticist would see him a few days later. My husband was very sick that morning, so we decided I would go to the appointment alone with Samuel to avoid spreading this illness to other children. I expected to discuss our genealogy and maybe do blood work.

She quickly examined Samuel and asked if he startled often, which he did. I can remember thinking she knew exactly what that issue was. She quickly told me my beautiful, perfect baby would die before the age of 3 years old. He had a rare genetic neurodegenerative disease more often found in French Canadians and Jewish populations. He had Tay-Sachs disease. I am French-Canadian and I had never heard of it. Samuel would lose all the skills he had learned, one by one. His ability to crawl, turn over or hold his head. His body would become progressively weaker and he would have difficulty swallowing, digesting and breathing. He would soon have seizures and lose muscle and mental function and by age two become unresponsive to his environment.

There was no cure, no medical trials or natural history studies available to him.

Nothing modern medicine could do to help my precious child.

I was to take my sweet baby home and simply love him.

I was in shock. I took Samuel home and left the house without answering my husband’s question on how it went. I couldn’t say it. I couldn’t admit it. I couldn’t process it. I told no one and only came home once I knew everyone would be sleeping. How do you tell your husband that our 8-month-old son would die? At 5 a.m. my husband woke up, and since I was still awake, I decided to tell him before the kids woke up. He was in shock, in disbelief, enraged and crying.

Our families lived hours away, so later that day my husband called his family to let them know. I couldn’t talk to anyone about it so I decided to write my siblings and my closest friends an email. I told them Samuel would die and not to contact me until I was ready. That night, my big sister arrived without warning and I hugged her fiercely. I realized how much I needed her; our parents died many years before and she knew how devastated I was. All I wanted was to hold Samuel, curl into a ball with him in a dark corner and stop time.

We announced it to our other children and other friends later that week. Many told us they couldn’t imagine how we felt. I disagree, every parent can imagine it. We simply would never want to.

Author's son, Samuel, smiling in play chair
Samuel.

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What This Autistic Mother Wishes Social Workers Understood

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Dear Social Worker,

Please understand that when you are dealing with an autistic child, you may also be communicating with an autistic parent.

Misunderstandings can happen with any parent, but when a mother with autism is being misunderstood…

You may interpret her communication as obstructive when she has a social communication disability. She is doing her best. When you are starting to “get your back up,” please stop and rethink and rephrase.

You may think she is aggressive and shouting. She may struggle to moderate her tone of voice, and may lack some self-awareness, particularly in times of great stress and anxiety when her adaptive skills are lowered.

You may think she is not engaged with you and not seeming to take an interest in what is happening in the meeting. That mother’s whole body — how she feels, sees, hears and smells her environment may have reverted to a basic “fight, flight or freeze” protective mechanism.

You may think she is overly focusing on the disability of her child. That mother might be reading everything she can find, doing more research and asking more questions than what some professionals may find comfortable. She is trying desperately to help her child and find answers. And maybe, she took very literally the advice you gave her to “give an example of the worst day.”

You may think she is overly controlling when she tries in vain to control her situation. She may not know the hierarchy of the system — who can and cannot be useful, who can or cannot make decisions, who is or is not influential.

You may think she will not accept help offered, and is not coping, because she has not been told the processes with which she needs to engage. The uncertainty of not knowing what is coming next, how long it will last, or what her role is can be overwhelming.

You may think she has not formed a strong maternal attachment to her child, when she knows her child. She knows how they need time to process their own pain. She knows when her child is overloaded, the worst thing she can do is to touch and give additional input to her child.

You may think a lot. But the facts are, nearly half of dads with an autistic child will have autistic traits themselves. Girls are referred for an assessment far less often than males, and in the U.K. over 80 percent of general practitioners admit to not knowing enough about autism to feel comfortable making a referral.

infographic about autistic moms. Info is contained in text.

There are families right now that need you to listen and “do.”

Do become aware of how women with autism may present differently than men.

Do give her any paperwork at least three days before a meeting.

Do make sure meeting rooms are comfortable and sensory-friendly.

Do give her natural light.

Do give her a position where she can see who may be walking behind her.

Do give her a flowchart of the system, and show her what stage she is in.

Do make your communication clear, concise and without hidden meanings.

Do tell her who will be working with her, their role, their limitations and what they can do to help her.

Do allow a trusted friend or advocate to be with her.

There are many good social workers in the U.K. and beyond working well with families. Be one of them.

Regards,

An autistic mother struggling to be heard

Learn more at Autism Women Matter.

The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability, disease or mental illness. 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.

Lead photo source: Thinkstock Images

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What I Remember on Days I Don't Feel Beautiful With Chronic Illness

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When I met my husband six years ago, I was a svelte size four or maybe, on a “bad” day, a six. I worked with a personal trainer and ran three miles most days. I had a closet full of trendy clothes and like most women, a deep desire to be considered beautiful. While I certainly wasn’t considering a career as a supermodel, most days I felt “pretty cute.” But it felt tenuous, like a few extra pounds or the wrong haircut could take it all away.

I wanted my husband, Ryan, to feel proud to introduce me to his friends. I wanted him to look at me from across a room and think, “I can’t believe she married me.” But the fatigue, pain and infections that had begun to pick up speed during our dating days overtook me early in our marriage. By the time our five-month wedding anniversary rolled around, I was in the neurology unit of our local hospital, and Ryan was walking me to and from the bathroom. Let me tell you, it was super sexy. I picked up weight at an alarming rate. The texture of my hair changed. It began to fall out. I was too tired to put on makeup or change out of my pajamas most days. My high heels were exchanged for joint-friendly flats. I wasn’t feeling like much of a “prize.”

It took several years for the doctors to uncover the root of all of the sickness (Lyme disease, an immunodeficiency disorder called common variable immune deficiency and rheumatoid arthritis [RA]). So for quite some time, I just felt ugly. The perplexing thing was, my husband didn’t seem to notice. While I was often disgusted by my appearance in the mirror, he wasn’t. While I hated myself for being so ugly and needy, he seemed to love me just the same. How was that possible?

But then when I thought about it, the times in my life I’d felt most beautiful didn’t have anything to do with makeup or high heels. They were the days in front of my students in the classroom when someone “really got it.” They were the days I chose to love fiercely when I could have run away. They were the days I snuggled with my son reading bedtime stories, exhausted and enamored. Was it possible these were the things that made me “beautiful?” Could I be a different size and still be beautiful?

This morning my stiff, claw-like RA hand dropped my brand-new mineral makeup in the sink with running water and ruined it. Even after a half a can of dry shampoo, my hair was so greasy it looked like I’d tried to fry a hamburger on it. And I looked at myself in the mirror and cried for the first time in a long time. We were running late. I didn’t have time to cry. Or shower. So off we went, as a family, which happens so rarely. As we sat at lunch, my husband looked over at our daughter and said, “You are so beautiful. You look just like your mommy.” How could he know my struggle with this very thing on this very day when I hadn’t said a thing?

On the way home, I turned to him and said, “I’m sorry I’m so ugly and a pain in the butt.” He looked sincerely shocked. And then I remembered. The things that make me beautiful to him, to my kids, to the people who love me, have nothing to do with my size. They have nothing to do with my mineral makeup or (lack of) luxurious hair.

So to the illnesses that helped me find my true beauty, that help me find it again and again, day after day… Thank you.

P.S. Hey reader — Hair or no hair, regardless of the numbers on the scale or the clothes you have on right now: You are so beautiful.

Parents with children smiling on green lawn with lake in background
Stacey, her husband Ryan and their children.

The Mighty is asking the following: What’s one thing you thought on the day of your or a loved one’s diagnosis that you later completely changed your mind about? 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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The Reality of Hope and Positivity for Someone With Chronic Illness

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“You’re so negative!”

“You never know, your miracle could be right around the corner.”

“Instead of researching all that could go wrong, why don’t you just trust that something could go right?”

“So, this treatment is helping? You’ll be back to yourself in no time!”

“Think positive!”

“You’ve got to have hope things will get better if you want them to.”

If you’re living with a chronic illness, chances are you’ve heard at least one of these more than once from well-meaning people, and indeed, I used to think that was how I was going to survive — and beat — this beast.

After four years of living with chronic migraine disorder, in 24/7 pain, 365 days a year, I’ve learned a lot: This monster is genetic and neurological, there’s no cure, treatments only put a small dent in it for many sufferers, depression often comes with the territory and small victories matter.

I’ve also learned that when you’re living in the kind of sunshine and happiness most people picture as hope and positivity, each successive treatment that fails can crush your soul bit by bit. So I’ve had to alter my perceptions of hope and positivity in order to keep them alive.

To those who say I’m negative or hopeless, I have this to say:

You can’t make informed decisions about your care if you are not realistic.

Positivity and hope are not unicorns pooping rainbows and butterflies. For many of us, they are the acceptance of our condition and the strength to wake up and face each day and not give up.

It’s finding the best in a life filled with pain and uncertainty.

It’s not about spending life in pursuit of that one magic cure that may not exist — it’s about knowing the real chances that this or the next treatment may not work, but trying them anyway… and if it helps, well, then we can have a pleasant surprise.

And if it doesn’t, we’re not going to fall apart, because we didn’t put all our hopes in that basket. It’s how we don’t break each time something else fails.

It’s about knowing the real odds that even if something does help, it will likely not improve our lives drastically or dramatically, and learning to live with the small victories as if they’re an Olympic gold medal.

It’s about knowing that not only is each day an unknown and sometimes the next hour and the next minute are unknowns… but we will navigate them the best we can.

It’s about realizing you may not attain the dreams and hopes you once had in life, not because you don’t have the desire, but because there are limits both physically and mentally now that keep you from doing so… and reaching for new dreams and hopes, even if those are just a day at a time.

So don’t tell me I’m being negative when I don’t get excited by the next fad miracle cure, when I say I may never finish college, when I’m pragmatic about the odds of a treatment giving me my old life back or the possibility I’ll always carry the burden of pain through the rest of my life.

I am cautiously optimistic, realistically hopeful, and pragmatically positive — and if you aren’t in my boat bailing out the rainwater with me, don’t tell me I’m wrong for how I weather the storm.

The Mighty is asking the following: Tell us one thing your loved ones might not know about your experience with disability, disease or mental illness. What would you say to teach them? 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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6 Things I've Learned as the Parent of a Child With Tourette Syndrome

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My son has Tourette syndrome (TS), a neurobehavioral movement disorder causing motor movements, or tics, he cannot control.  And that’s just what is obviously visible on the outside. Many children with TS deal with obsessive-compulsive disorder, attention deficit hyperactivity disorder, and various learning disabilities. The Tourette Syndrome Association of Texas estimates up to one in 33 children have TS in some form. Even so, it’s widely misunderstood, and we have much more to learn about what causes TS and treatments.

young boy swimming in the waves at the beach
Leslie’s son.

I would never try to speak for my son about what it feels like to live with TS, but I can tell you, after years of processing this diagnosis, what Tourette syndrome has taught me. Maybe all parents could learn something from this part of my story.

1. Most of the time it’s best to “call it like it is.”

Be as honest with your children as you can. If they learn mom or dad has rough dark days, too, they may be better able to manage theirs. They will also more likely want to talk to you about the difficult moments. I believe we should all learn to laugh at our personal challenges, because they don’t define us. However, sometimes those challenges, like Tourette syndrome, can make us want to throw up our hands, scream and cry. It’s not easy. Let’s just call it like it is.

2. “Let go and let God.”

Sometimes being “in control” means letting go. If we as parents constantly strive to show our children perfectly managed households and expect perfect grades and perfect behavior, we may set them up to disappoint us and themselves. We cannot always control the cards we are dealt in life. If we let go, we realize we really don’t need control in the first place.

3. “Being still” is sometimes impossible, but that’s OK.

Some people can “be still” better than others. Telling a child with TS to “be still” is insulting, I feel, and may do damage to their self-esteem. They have no control over their motor or vocal tics. If you think about it, all children were not made to “be still.” They were made to move and play and grow and learn. Let’s let them be children.

4. Remember we all learn differently and at a different pace.

It’s easy to say this phrase, but not so easy to embrace it when we live in a world of developmental benchmarks and educational standardized tests. This mindset has been difficult for me to accept, but on days when I truly am at peace with it, it brings a great deal of freedom.

5. Work hard to control the stress in your household.

We all know how even small amounts of stress overtime can make us sick. Physically sick. Stress and anxiety can send a child with TS into overdrive, triggering tics that stick around for a while. I have seemed to thrive on stress at times in my life, and worn the amount of stress I can handle like a badge of honor. I believe teaching our children ways to manage stress will make us all healthier and happier.

6. Help your children discover their gifts. 

I figure this is my most important role as a parent. We should work with our children to show them how to use their gifts and talents. I often get so focused on trying to fix my children’s challenges, I miss the chances to help them discover their strengths. The world may make it difficult to see a child’s gifts, but I believe we should ask God for patience in waiting to see those gifts revealed. As my son grows and uncovers his passions and purpose, I’ll be the one watching from the wings with a huge smile on my face.

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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