Makayla’s story: Living with Leri-Weill Dyschondrosteosis

Makayla hip dysplasia lead image

Our daughter Makayla was born perfectly healthy on April 5th, 2014, passing all of the usual newborn screenings without issue. From day one, her personality shone through. She was strong-willed and had a smile that would light up her eyes before her mouth even showed a hint of joy. But over the next 3 months, Makayla wasn’t eating well and wasn’t gaining enough weight.  Our pediatrician referred us to Dr. Elizabeth Hait, a gastroenterologist at Boston Children’s Hospital. Dr. Hait would change Makayla’s formula multiple times and put her on medication for her acid reflux. Her pediatrician also tested her for a milk allergy, since her brother had one as an infant, but it was negative. It was recommended Makayla have an upper GI to make sure everything was anatomically correct.

The technician suggested everything looked good, so we left feeling that Makayla was perfectly normal. But a call from her doctor that afternoon turned our world upside down.

Although Makayla’s upper GI was perfectly normal, we were informed that her x-ray revealed she had bilateral hip dysplasia. The next 2 weeks were a whirlwind. I made an immediate appointment with her pediatrician, started doing my own research (what in the world is hip dysplasia?!) and got an appointment with Boston Children’s Orthopedic Center as quickly as possible.

In early June of 2014, we had our first appointment with Dr. James Kasser, a pediatric orthopedic surgeon and Surgeon-in-Chief at Boston Children’s. An ultrasound and consultation confirmed that Makayla had bilateral hip dysplasia, and it was severe. We left that day fitted with a Pavilk Harness. After 2 weeks in the Pavilk, Makayla’s left hip had been corrected, but the right was unchanged – Makayla was fitted with a Rhino Brace. After wearing the Rhino Brace for 6 weeks (24 hours a day, 7 days a week, only to be removed for diaper changes), there was no progress.

She was scheduled for an arthrogram and possible closed reduction surgery. However, during the arthrogram, it was determined that a closed reduction would not work on Makayla’s hip and instead she would have to undergo an open reduction surgery with pediatric hip specialist Dr. Travis Matheney.

In the interim, she was to remain in her brace at night, but was allowed to be out of it during the day.  We enjoyed feeling “normal” for a couple of months – snuggles, sitting, rolling and baths!

Makayla’s surgery came on November 18, 2014.  She was in the OR for about 3 hours – Dr. Matheney opened up her hip, removed anything in the way that didn’t belong in her hip socket, set her leg in the right position, and cast her from chest to ankle.  Surgery didn’t go off as easily as we had hoped; once Makayla was casted, her MRI showed that she somehow had gotten her leg back out of the socket.  She would go back to the OR to have the cast removed, re-set, and re-casted. The next morning her x-rays showed that the procedure was a success and we were able to take her home!

Makayla hip dysplasia table
At home, we had bean bags and special tables made by beloved family members so that she would be able to sit up to play and interact. Even while in a cast, her energy never ceased. Makayla would often rock in her tables so hard that they would migrate across our floor.

The 3 months Makayla spent in a body cast or “spica cast” were probably the 3 hardest months of my life. Sleep was at a minimum while stress and emotions were running at an all-time high. I found a Facebook group for parents of children and infants with hip dysplasia and started to make online friends with some of the mothers. They were what I needed. They knew the heartache that I was feeling on more levels than I ever knew existed. How to console a child when you can’t even access three-quarters of her body, having your child spend her first Thanksgiving, Christmas and New Years in a body cast, knowing she should be rolling and crawling by now, but can’t – those moms understood.

On February 10, 2015, our journey in the Spica Cast ended – for now.  Although she remained in her brace in some capacity until she was 2, Makayla was able to take baths again, learned to sit and roll again, and eventually learned to crawl and walk!

But all of this was only the beginning of everything else. Call it mother’s intuition, or a need for answers, but Makayla didn’t have any risk factors for hip dysplasia, yet she had such a severe case – why? I sought out a geneticist who felt there was something going on and encouraged me to trust my gut and keep seeking answers.

After some research of my own, conversations with family members, and genetic testing for my husband, we knew what to test Makayla for – Leri-Weill Dyschondrosteosis.  Makayla got her positive diagnosis right around the same time she started falling off the growth chart (she’s currently hovering around the 2-3 percentile). We’ve recently started seeing Dr. Alexandra Haagensen in the Endocrinology Division to learn more about growth hormone therapy. If you’ve lost count, that’s 4 specialists (plus Dr. Mark S. Volk of the Otolaryngology Department) that Makayla is or was under the care of at Boston Children’s.

If you were wondering, Makayla is a perfectly healthy 3 ½ year old. She’s petite, but don’t let her size fool you, she is a mighty one! Even after all she has gone through, Makayla is never upset by her return visits to the hospital. In fact, she often counts down the days to her appointments!

For now, her hip is stable and we are still working on making a decision regarding whether or not we want to go down the road of using growth hormone therapy. But we know that no matter what, we have the guidance and support of the most amazing doctors at Boston Children’s who not only care for their patients, but about their patients and their families!

Theriault family with Makayla after surgery for hip dysplasia

About the blogger: Kerri Theriault is mom to 3-year-old Makayla and 7-year-old Jason. Catch up on more of Makayla’s story and follow all the latest developments on Kerri’s blog, Makayla’s Hip Journey.

Learn more about Boston Children’s Child & Young Adult Hip Preservation Program