SUMMER’S DIAGNOSIS WITH MULTIPLE EPIPHYSEAL DYSPLASIA

Not the type of post I ever wanted to have to write. I always keep things light around here but every so often I’ve opened up and shared some of the hard things our family has gone through. Today is one of the those days as I’m opening up about Summer’s diagnosis with Multiple Epiphyseal Dysplasia. And as you are reading this we are in route to Delaware for her to have surgery.

I went back and forth on whether to share this openly but to be honest many of you have watched Summer grow up on here. She was only 4 when I launched my blog. Some of you purely watch my stories just to see her antics. Some of you recognize us out in public and know exactly who Summer is. She’s always been and always will be a big part of what I do. Therefore, it only seemed right to let you all know what she is going through and what our family is facing.

You would never guess that our girl who makes endless Tik Tok videos, who dances competitively for 6+ hours a week, who cheers her head off was going through what she is going through. You see the innocence, the carefree laughter, the dedicated dancing, keeping up with her friends. But what you don’t see are the nights she can’t walk up the stairs. How stiff she is every single morning getting out of bed. The limping when she can’t walk as far as everyone else.

SUMMER’S DIAGNOSIS

Summer has always been extremely small for her age. She consistently has been 3rd % for height since she was a baby. She never had a growth spurt like other kids have. I had asked her pediatrician about that several times but they always dismissed it and said not to worry (we have since changed pediatricians since getting her diagnosis).

We noticed over the past year that Summer was starting to limp when she was walking. Not all the time but over the course of the year it was getting worse. If you know her or have seen her in my stories you may have picked up on it. It seemed that when her right leg was over fatigued it would start to give out and she began complaining of hip pain. We started going to physical therapy back in January and her doctor was working on exercises to strengthen her leg. While it seemed to help a bit there wasn’t a real resolution and we didn’t have a proper diagnosis of what the cause was.

We then decided to see a pediatric orthopedist who did an X-ray on her and he discovered she has Skeletal Dysplasia. We were then referred to have genetic testing done. It took about a month to get her results and in August we found out the type of Skeletal Dysplasia she has is called Multiple Epiphyseal Dysplasia (MED). It’s a rare genetic disorder that affects her long bones, joints and growth plates. Only 1 in 10,000 people are born with it.

From there we were referred down to Nemours Children’s Hospital in Delaware to be evaluated by the Ortho-Genetic team and the Orthopedic Surgeon back in September. We learned a lot about her diagnosis that day and to be honest we are still learning. Summer’s diagnosis with Multiple Epiphyseal Dysplasia is complicated and it’s something that will affect her for the rest of her life as there is no cure.

At our appointment at Nemour’s we learned that people diagnosed with MED will likely have early onset arthritis (can be as early as their teens), early onset osteoporosis and most will need a hip replacement as early as their 20s or 30s. We don’t know what she will face in her teen and later years but we do know that we have to do our best to preserve her joints now to slow down the deterioration. People with MED are often of short stature which we know she is. Summer is 8 but the doctors said she is the size of a 5 1/2 year old. They are hopeful though that she will be of normal height as she grows.

Her Surgeon also discovered that Summer’s left leg is 2.5cm longer than her right leg. So not only is her MED causing the pain she has been in but that is a big part of why she limps when she walks. On November 17th we will be heading to Nemour’s for Summer to have surgery to fix her leg. Her Surgeon will put screws into the growth plate of her good leg to make it stop growing while the other leg catches up. Depending how quickly she grows the screws will stay in for 1-2 years. She will have a 6-8 week recovery. We are grateful to have the top Surgeon in the country for MED doing her surgery.

LOOKING AHEAD

Going forward we have a lot to change. Her beloved trampoline she can no longer jump on. She can never play sports that are high impact. There will be limitations of what she can do in gym class. If she continues to cheer she can never be a flyer. A split. She may never be able to do. But dance. That has been the hardest. Summer making the company dance team last year changed our lives. She found something she loved to do and we found an extended family. We were told she could still dance but would have to be careful of too much jumping and one day she may wake up and tell us her body hurts too much.

As parents, Erik and I had to decide whether to let her continue or not. We could put her in a bubble and try to preserve her joints starting now or we could let her have a childhood she can look back on and know that she got to experience everything she wanted to do. We decided to let her live in the now and enjoy the things she loves most. Her dance school knows and they’ve been nothing but supportive.

Summer is learning to understand her diagnosis with Multiple Epiphyseal Dysplasia and accept that she can’t do certain things. She will sit with pillows and dolls on her trampoline. Eventually it’ll collect snow and leaves and one day she will be ready to let it go, but for now it’s baby steps. She is only 8 and just beginning to understand. Understand why she can’t keep up with all her friends, understand why she’ll struggle with certain dance moves while her friends excel, understand there will be things her body can’t do. She already said to me that she wishes she could be like everyone else. Hearing that was one of the hardest things I ever had to hear her say.

As hard as it is to accept what she is going through I am also thankful for so many others have it harder than us. She may experience chronic pain throughout her life but she will live. And my God am I grateful for that. My heart breaks for any parent facing anything more serious and my heart is with you.

So my friends I ask something of you. Please keep Summer in your prayers as she undergoes surgery tomorrow. For those who are reading this and have kids that are friends with her please talk to them about her. If there is one thing that I know she fears in all of this is the fear of being different and being left out. Her bubbly personality — I don’t ever want that to fade. Her spirit to never to be broken. While today she may walk with a limp that most kids don’t notice one day it may look different. So from parent to parent may I ask that you open the conversation with your kids. Teach kindness, empathy and that disabilities don’t define us. Her diagnosis with Multiple Epiphyseal Dysplasia may limit certain things but it won’t change who she is.

And some of you are reading this thinking how could this be true? I never knew, I never noticed, I never would’ve thought. And you see that is the thing about Summer. She doesn’t let anything hold her back. She learned to hide it. Our mighty girl learned to push through it.

If there is one thing I’ve tried to teach my daughter from early on is to never give up. Strength. Perseverance. Bravery. So much for a young child to take on but something she will come to know from a very young age. And my Summer girl — she will never stop fighting. I know her spirit and I think many of you know it too. She is a force. A powerhouse. She will not let this defeat or define her. Summer’s diagnosis with Multiple Epiphyseal Dysplasia is just the beginning of what she will accomplish with her limitations. Knowing my daughter she will pave the way for others who come after her with this diagnosis. She will one day say, “It didn’t stop me.”

And nothing will my sweet angel. Nothing will stop you. We don’t let it. Right by your side we will be watching, praying and routing you on. Before my Dad passed away he played the song “I Hope You Dance” by Leeann Womack for me. I always said those were his last words for me.

“Whenever one door closes I hope one more opens
Promise me that you’ll give faith a fighting chance
And when you get the choice to sit it out or dance I hope you dance
I hope you never fear those mountains in the distance
Never settle for the path of least resistance
Livin’ might mean takin’ chances, but they’re worth takin
And when you get the choice to sit it out or dance I hope you dance”

I hope you dance Summer. Yesterday, today, and tomorrow. Dance my girl. Dance. We don’t know what the next 10, 20, or 30 years will look like, but what I do know is that we will be there with you every step of the way. Dance. Dance through this life of your’s when everyone is looking and when no one is looking. Dance.