A mum on a mission to make the world a more inclusive place for RARE children
I am Michelle- just your average Mama trying to make the world a more inclusive place by sharing stories about my experiences as a mother of two children: one who is “neurotypical” and one who is “neurodiverse.”
Confrontation. It’s something I have avoided my entire life. I was a people pleaser just so I wouldn’t make anyone else feel uncomfortable. Then I had children. I started to come out of my shell four years ago. I gradually noticed a shift in my capabilities to speak my mind when it came to the well-being of my child.
That’s when I discovered the difference. I realised it wasn’t confrontation at all… it was advocacy. I was becoming an advocate for my Noah.
Then the floodgates opened February 26, 2020. Our world changed forever when our daughter Hailey was born. Hailey was diagnosed with Jordan’s Syndrome, a rare mutation on the gene PPP2R5D. Hailey is one of 220 people worldwide who have been diagnosed with it, though experts say approximately 200,000 people are undiagnosed or underdiagnosed. Doctors didn’t discover her mutation in utero, through genetic testing or imaging while I was pregnant. After her birth, my husband and I began a journey of advocating to get a diagnosis.
So, what is it like for a parent who has a child with a rare disease?
Raising a child who is rare means YOU are now the expert. In some cases, because it’s so rare, I know more than Hailey’s doctors.
There are some days when you awaken from a deep slumber, and forget about the diagnosis for just a moment. Then, your heart sinks a little deeper into your chest. You ache for your child- not because they are unhappy, and in our case, not because she is in pain. Because she is not. She is the happiest baby girl. We remember that while she is this incredible tiny person who brings us so much joy, there are aspects of her life where things won’t come easy for her. We worry for her and about her, for now and for the future … for the unknown.
Life after diagnosis
The day that Hailey was diagnosed, my husband and I set her up at a different daycare where she could receive therapy daily, sometimes multiple times a day.
At just fifteen months, Hailey is averaging 8 different therapy sessions a week and counting. Therapies take up large chunks of your time, but also a lot of space in your brain.
I spend a lot of time thinking about therapy and I have such high hopes that one day, therapy will no longer be necessary. I envision a day when her schedule will be filled with “typical activities-” sports, dance, etc.
And then there are the unexpected curveballs life throws your way. When Hailey was about a year old, she began dealing with “Atonic Seizures.” Recently, during one of her physical therapy sessions, it also appeared that she was possibly experiencing something called “Petit Mal” seizures, meaning sudden lapses in consciousness. This brought on a whole slew of doctor appointments, medical testing, and phone calls to different hospitals and doctors. MORE ADVOCATING.
None of this is easy, but it’s necessary. We are confronting a rare disease together and advocating for our beautiful children. Alone we are rare, together we are strong.
Finding a balance
Finding a balance is a struggle. I’m a wife and a working mother of two, so it’s difficult to juggle calls, waiting for insurance to approve everything, shuttling Hailey back and forth to appointments, to therapy, and still maintaining a semblance of my sanity.
While dealing with life experiences that others cannot relate to, it is crucial to have people in your corner who understand or take the time to try to understand.
The best piece of advice I think I’ve heard along this journey is from a friend. She said, there are some people who have neurotypical children and you feel a little sad that you don’t. There are so many questions for their future…for ANYONE’S future…but the one thing you can rest assured is that your child will grow up knowing that they have to work hard to get things. Your child will understand empathy and compassion. Your child will be a better and stronger person for it. And that…that piece of sound information turns it all around for me.
You find out that this club is exclusive, but also inclusive. Here, you will grow, advocate, learn about acceptance, but most importantly, you will thrive.
Being a part of the rare community at times feels uncomfortable and maybe a little scary. But once you meet people facing what you are, you realize there is so much to discover. You find out that this club is exclusive, but also inclusive. Here, you will grow, advocate, learn about acceptance, but most importantly, you will thrive.
Our story is as much about our own family as it is about our “squad.” Our extended family, our friends, Hailey’s medical providers and therapists, and the other families who are helping to support us in our new “rare community.”
A community we are grateful to have. None of this is easy, but it’s necessary. We are confronting a rare disease together and advocating for our beautiful children. Alone we are rare, together we are strong.
”Please share this journey with us as we learn more about our child, others living their lives with children who have been diagnosed with rare diseases and illnesses, and other peoples’ journeys. Together we will work to make this world a happier and more accepting place! #FightingRarewithHaileybear”
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