Robbie and her mom.

Why I'm Choosing Happiness When Facing My Daughter's Ultra-Rare Disorder

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I was born happy. Growing up, my family was known for our happiness. But when we were told my daughter Robbie has a rare neurodegenerative disorder, hereditary spastic paraplegia type 47, and the nine other known children with this disorder have severe physical and intellectual disabilities, I admitted to my husband that I believed I would never be happy again. I thought my joy in life had been depleted. He quickly told me, with a confidence I thought foolish, that this was not true. To me, it seemed he didn’t grasp the gravity of the situation. It turns out I was wrong, and I have never been so pleased to admit he was right.

After a short grieving period, I found myself soaking up every second of delight my children could bring to me. The turning point occurred when I asked myself two questions: Do I want to live a life where I am anxious and terrified daily of a disorder that, being so rare, has been deemed impossible to predict? No. Do I want to spend our time together consumed by the challenges that could come? No. I realized I needed to live for the day I was in. I became determined to see more smiles, happiness, and laughter than tears or disappointment out of my children at the end of every day. It became clear that, regardless of what happens in the future, I want our children to remember their early years as flashbacks of silly dance parties, constructing elaborate costumes from cardboard and decorative tape, indulgent smiles, and sticky hands from a coveted ice-cream treat.

I have never more understood the value in counting your blessings. While Robbie’s disease trajectory is unpredictable, we have been told her case is presenting mildly at this point. The support from friends, family, and our amazing team of therapists has been phenomenal. My husband is my rock: consistent in his strength, security, and sense of humor. My son is patient and gentle with Robbie, a kind soul who genuinely enjoys his sister.

And then there is Robbie. She is, quite frankly, the essence of joy. Her smile is utterly irresistible, with laughter surprisingly robust for such a quiet little girl. To meet her really is to adore her. It amazes me daily how so much personality can be projected out of a child with so few words and who faces so many challenges. On countless occasions, medical professionals have said her personality will help her go far, and of this I am certain. These are just a few of my many blessings.

Since my decision to live for the day and to appreciate the smaller moments, every day has been a good day. There have been sad days and hectic days, busy days and long days. But I have not had a bad day. Every day my daughter shows progress is celebrated. Each milestone is marked with giddiness and elation, a happiness my children relish and, in turn, exude in their daily life. Should the time come when our fears become a reality, I will take a moment to grieve. And then I will re-evaluate what I consider to bring me joy and strive to attain it. In these moments, if my pleasure in life does not come innately, I know I have a choice. And I choose happiness.

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Photo by The Right Click Photography.

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To Mom and Dad, Who 'Get Me Through It All' With Cerebral Palsy

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Recently, I found the huge folders full of my medical reports. Inside were pages full of evaluations from doctors, therapists, and psychologists. Flipping through the piles and piles of notes was like getting to sort through my own little time capsule. In the hours I spent reviewing my life with cerebral palsy during the late 90s and early 2000s, I couldn’t help but think “Wow. Everything I went through, Mom and Dad went through too.” `

Thinking about the medical world I was thrown into brings back so many emotions. Mom and Dad, thank you, first and foremost for allowing most everything we did to feel “normal.” I never realized how often one of you was taking me to doctor’s appointments. In these settings, I was surrounded by adults who tended to speak around me rather than to me. At times, I felt like a little spy keeping my ears open and watching everyone like a hawk, trying to figure out if anything was going to hurt that day. With three surgeries under my belt by age 5, no one could fool me by saying that little cup full of medicine “tastes like cherry!” or that by giving me a teddy bear, I would somehow be distracted from the needles that were about to be put in my legs!

But if there were two people I could always look to for reassurance, it was you. Thank you for never hiding anything from me. You understood how I always needed to know what to expect, and your honesty provided a sort of comfort. Thank you for the reassurance, even when it meant answering my same questions over and over again. In those moments when pain couldn’t be prevented, you stayed next to me, squeezed my hands tightly, and gave me permission to let my agony out. I can only imagine what it must have been like to watch me cry. Dad, thank you for being my rock in those moments. I’ll never forget you scooping me up, hugging me tight and making it all better with a milkshake.

As an adult, I understand the decisions you had to make on my behalf were not taken lightly. All that “stuff” we had to do at home: physical therapy, night splints, the eye patch, and that awful electrical stimulation machine! On plenty of occasions, I remember getting frustrated and trying to negotiate because I didn’t want to be stretched… again, or put on my eye patch… again, or wear the “tickle machine” (news flash: those electrical pulses were far from tickles)… again. 

Thank you, Mom. You were so incredibly patient on the days when I thought all my whining and arguing would break you down, and yet it never did. Thank you for all those times you both said, “We know it stinks kiddo, but you gotta do it anyway.” I couldn’t see things with a long-term perspective, but I am so grateful that the two of you were always looking ahead so I could reach my full potential.  All those times you said, “Annie, one day you’ll understand why you have to do all these things you don’t want to do,”  I hated hearing it. But I’m here to say “Yes, I understand now.”

Thank you for being my best advocates, teachers and friends in the doctor’s office and beyond. There were so many things that went unnoticed to the rest of the world: the meetings, phone calls, and car trips all over the place. You spent many hours insisting for me to start, stay, and thrive on a mainstream educational track in school. You reminded me the importance of finishing what I started, even on the days when I cried wanting to quit ballet. And most importantly, you always reassured me that as long as I was doing my best, nothing else mattered. Everything you taught me, whether directly related to my CP or not, has inspired me to give 110  percent in everything I pursue and to live life with an open mind and an open heart.

Most importantly, I am grateful that God gave two amazing parents. I’m blessed because all I’ve gone through has only strengthened our family bond. I know that all you’ve done for me, even when it was tough, has been done with love.

Thank you for everything.

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The Joys in My Life With My Son on the Autism Spectrum

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There are challenges that can come with autism. Nobody gains when we deny difficult things are in fact difficult. But the thing is, the difficult and at times exasperating things are sometimes all mixed up with the joyful things and the funny things.

Then I could say there are the heartbreaking things. And in the same breath, I could add, yes, but there are also the hopeful things, too!

Many of the things I love most about my son’s personality can be related to Asperger’s. He simply is who he is. I have always loved his strong streak of individualism, his absolute uniqueness. So much of the joy in my own life is due to the joy he finds in his own. He is so bright, so full of life, so passionate and intense. It can be tiring, but it can also be wonderful. Being involved in his life is like being invited along on some vivid adventure I would never have thought to embark on by myself.

I love his pure excitement over small things. I love that he loves his special interests so intensely. I love to watch his hands flapping with joy as he stares at pictures of pots and pans or more recently, various sea creatures. I love his colorful rubber boots that he is never without. I love his detailed, focused drawings of the same thing day in and day out for months at a time. I love how smart he is, knowledgeable about what interests him. I love the way he interprets things literally, although I do understand this might not always make things easy for him. I love his logical, black-and-white mind. I love his creative imagination. He is a bundle of contradictions.

But I know how hard and heartbreaking and mind boggling-things can get, too. I can struggle with exasperation and impatience on a daily basis. Even so, I see the humor in being asked to read the same bedtime story every night for years when that “story” just happens to be a book of unadorned facts about sea creatures. If I try to leave a fact out in order to get through the book more quickly, he knows. The plus side is that I now know a lot about the various sea zones and the strange creatures that live in each.

I also enjoy his literal thinking. I laughed when I told him he was not to use his hand to slap someone and he stopped, looked at his hands and then in a reasonable, conversational tone, asked “OK. I won’t. But what can I use to slap someone then?”

The things we never imagine needing to explain!

I do know there’s the hard. The things that are no laughing matter no matter what angle I look at them from. There’s the heartbreaking and terrifying. The aggression and self-harm, the meltdowns, and more. Sometimes there is an abundance of the difficult.

But sometimes, I simply cherish the moment. I need to look for the tender or the joy in the midst of the hard. It’s often there, all mixed up with everything else.

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When I Need Doctors to Ignore the Prognosis of My Child's Disease

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“When you hear hoofbeats think of horses, not zebras.”

In medicine this is a reference telling doctors to first look for a more common explanation of symptoms before searching for a rare or obscure diagnosis. It makes perfect sense. First rule out the more simple possibilities until those yield no diagnosis, then begin searching for a less common explanation.

But what happens when you already know the hoofbeats belong to a zebra, and your child has already been diagnosed with a rare disease? I can tell you from 19 years experience that a lot of the time I still have to remind the doctors to look at the whole picture and not just the disease.

Children who are living with a rare disease still have many of the common childhood ailments from reflux to severe respiratory illness, and everything in between. And sometimes the sound of zebra hoofbeats is so loud the medical team never even stops long enough to listen for the horse.

Not everything that goes wrong with my child is related to Canavan disease. This is something that I’ve discussed with other Canavan parents as well, but I’m sure it’s just as common in other rare disease communities.

When Max was a baby, before I had 10,000 photos readily available on my Facebook page, I had to bring a photo album with me to every ER visit just to prove to the team that, “No, he’s not usually like this.”

They would look up the description of Canavan and then come back puzzled about why we were even there because the unconscious, sick child actually matched the outdated and incorrect textbook definition of Canavan disease. I would repeatedly explain that I expected them to figure out what was wrong with him, besides Canavan disease, and fix it!

As Maxie has gotten older, and is now pretty well beyond the typical life expectancy for Canavan, I have encountered another side effect of the zebra phenomenon. The “typical disease progression” answer. And I find myself again put in the position of advocating for my son and demanding that the medical team look for something they can treat, ignore the prognosis of the disease, and save my child. I have learned that once they begin attributing things to “disease progression” that’s my cue to show off a picture of Max at his riding lesson the week before and remind them of the first rule, “When you hear hoofbeats think of horses, not zebras.”

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Why I Struggle on the Anniversary of My Diagnosis

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Earlier this month I reached my 13th year since my diagnosis of reflex sympathetic dystrophy (RSD).

Often labeled “diagnosis day” or “diagnosis anniversary,” it’s a day where once a year our conflicting feelings about living with chronic illness often intersect.

The anniversary of our diagnosis highlights the paradox of living with chronic illness – that for many of us our diagnosis has impacted us both negatively and positively. Among all the loss and sadness, many also simultaneously experience times of happiness. Some have forged friendships they otherwise wouldn’t have, or found fulfillment in helping others struggling with the same illness all while dealing with health issues they wish they didn’t have.

My diagnosis anniversary has looked differently throughout the years. I think back to my first year and recall the clashing feelings of both deep sadness and hope. On one hand, I was still mourning the loss of my old life, while at the same time optimistic and hopeful that some of the treatment options available still hadn’t been tried.

Over the next several years, vacillating emotions would quietly jostle around in my mind on my diagnosis anniversary. Some years the realization of my strength was forefront, and on others it was merely a painful reminder of the devastating loss that accompanies chronic illness.

When I reached my 10th year with RSD, the jolt to my psyche was palpable. I was now 33, and the realization that a third of my life had now been lived in severe pain with serious chronic illness, was extremely distressing. It took a lot of time, support and patience for myself to understand that acceptance is fluid and all part of the journey.

Just like an anniversary of the death of a loved one, the annual reminder of the loss of our healthy selves has an impact on us. Our heart aches, we mourn and eventually persevere, but the reality of our loss sticks with us forever.

There’s no right or wrong way to deal with a diagnosis anniversary. Paradoxical emotions surrounding the day are normal. Laugh, cry, scream, celebrate, hide under the covers, or ignore- there’s no perfect way to be.

As for me, I spent this last anniversary reflecting. I let myself feel all the negative feelings I hold about being chronically ill. All the sadness, fear, and uncertainty that come along with being sick. But, I made sure to honor what all of us facing chronic illness and disability have within us- strength, courage, and bravery.

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Why Stimming Is Not a Bad Thing

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Stimming is OK — it is not a bad thing. Stimming can help an Autistic person self-regulate, reduce anxiety, and express themselves.

Self-injurious stimming, though, should be stopped because it can hurt the individual. This can include cutting, biting, smacking one’s head, etc. This should be approached in a calm manner, and trying to understand why the individual is doing self-injurious stimming is a good thing to do. The individual may have anxiety, or the individual may be frustrated because he or she cannot communicate.

If someone does not want to or can’t do body stims in certain places, such as in a classroom during a lesson, a good alternative can be getting quiet stim toys to stim with. I have found some stim toys I can use during class if I need to. Some of my favorites are my Eni puzzle and my multi-color Klixx. A great place to find stim toys is Stimtastic, which is an online store where you can order stim toys. It has a great selection of stim toys and some pretty awesome chewable jewelry.

So, why is stimming OK?

  • It is a natural behavior.
  • It can help us express our feelings, such as anxiety or excitement.
  • It can help us reduce anxiety and help us regulate ourselves.
  • It feels just plain good!

When we are told to stop this, it’s like we are told not to express our feelings, not to use coping skills for anxiety. We are suppressed from doing something that can make us feel good.

Hand flapping doesn’t hurt anyone, rocking doesn’t hurt anyone, so why say stimming is “bad”? It is only bad if the stimming is self-injurious. So please, if an Autistic person is stimming in a public place, don’t try to stop them unless it is disruptive or if it is self-injurious. If the Autistic person needs to stim in a classroom, try to find stim toys to help the individual.

Stimming is OK. Stimming should be accepted. Stimming is OK — let’s promote autism acceptance by accepting stimming.

Follow this journey on Ausomely Autistic.

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