DJ’s story

djDJ’s story is more than her CMD. Her story began long before we even knew she existed, when our hopes for having a child to love and nurture seemed so far away and unsure. On May 26, 2004, DJ became our daughter through open adoption. We were privileged to have been at the hospital when she was born, and the moment her birth mom placed her in our arms for the first time is one that we’ll never forget – holding this little miracle, our Delayna Joy, and dreaming all the dreams for her future. No one could have predicted that DJ would be faced with the challenges of CMD. 

DJ was an ‘angel’ baby – happy, engaging, learning, finding joy in everything. Music was in her soul and she responded to it in a way we found amazing in an infant so small – we’ll never forget the day she vocalized (‘sang’) for 10 minutes non-stop while I sang to her on her 2nd month birthday. I marveled at how watching ceiling fans could make her squeal and wiggle with happiness, to the point where people would turn around in church and laugh because she was being so loud. Everything seemed to bring her joy – she rarely cried and was so interested in the world around her. Everything seemed to be perfect.

It wasn’t until DJ was about 10 months old that I began to worry that she wasn’t sitting up really well on her own. She had just started rolling everywhere, but was making no moves to try crawling or standing. I wondered why she would twirl her feet and hands on stiff limbs whenever she was excited. I noticed she wasn’t able to do many of the physical things that other babies her age could do. My new mom worries were explained away by the health professionals I queried. It wasn’t until her one year check up that a referral was made for Occupational Therapy. And thus began our almost 3 year journey to find a diagnosis.

At first, it seemed like DJ only had gross motor delays. I spent hours a day helping her transition from one position to another, over and over again as we played together. But as the months progressed, and DJ’s sensory integration difficulties and cognitive/processing challenges also started to emerge, our happy, joyful little girl became increasingly frustrated. Speech began to emerge right on track, and then disappeared almost completely, leaving DJ with only about 5 words she could painfully retrieve and use. DJ’s amazing love for and engagement with music helped keep the communication door open, and she would ask me to sing her one of the hundreds of songs she liked by finding a picture in a book, pointing to it, and signing, ‘sing’ for the related song. We built about 40 signs into her repertoire over the months. DJ tried so hard to speak – she would vocalize a ‘sentence’ repeatedly, but everything just came out jumbled. Speech pathologists told me that this was ‘normal’ and that she was just ‘playing with sounds’. I knew in my heart they were wrong, and that she was trying desperately to communicate with us. DJ’s joy for life was still there, but so often was clouded by her frustration and inability to move or communicate easily.

Referrals were made to specialists too numerous to count that year. Scatter skills emerged in every area. Days were unpredictable – we could not figure out why some days were amazing and others were so difficult. For a little one who could speak barely at all, she would surprise us by occasionally saying an entire sentence. She loved jumping in her crib, holding onto the railing, but would ‘forget’ how to pull herself up to standing, even though she had just done so a few minutes earlier. She didn’t seem to be able to judge distances and reverted to screaming proactively whenever something moved quickly toward her or she had a minor fall – in fact, she reverted to screaming and crying a lot. At the age of 22 months, DJ took her first stiff, awkward steps on her severely pronated feet. We were overjoyed, yet very worried about what was happening to our little girl.

A month later, we welcomed newborn Anna Grace into our home through an unexpected, instant, open adoption placement. Life became even more interesting for us all, as we adjusted to being a family of four. And it soon became very apparent that we did not have enough local resources to help DJ. When Anna was only three months old, we packed up the girls and our belongings and moved from our rural town to the city so that we would have access to more specialized resources and doctors. With all these changes, DJ was even more frustrated and easily upset – her ‘world’ was upside down. I was in tears so many days as I held my beautiful little girl from scratching herself or pulling her hair during one of her frequent meltdowns, while I watched Anna pull herself across the floor to be near to us. We spent the next year attending a rehabilitation hospital several times a month in an effort to find out what was happening to DJ. Every doctor and therapist seemed to rule out something different, and after many tests and appointments, we had quite a list of what she did not have, but no answers.

dj2What we did know was that she had elevated CK levels (in the 3000s), and some EEG and MRI minor differences. DJ’s speech finally emerged dramatically when she was just over two and a half after we introduced an Omega supplement into her diet. Her ability to process and respond to simple yes/no questions took her almost 10 seconds most days, but showed improvement as she gained a larger vocabulary. Retrieval still seemed to be difficult, and we got very skilled at knowing what she wanted to say by the one or two words she actually spoke or responded with. She continued to have motor planning issues in all areas – speech, fine and gross motor, yet was learning and progressing, albeit at a delayed rate. Scatter skills still existed – DJ could not put a simple puzzle piece into a board, but she could name and recognize almost all of the upper case alphabet letters. Her love for music still shone forth, and she would try to sing many of the hundreds of songs she knew – but only we could understand what she was trying to sing most days. We knew DJ had special needs and also special gifts, but were so frustrated with not knowing what was wrong and what else we could do to help her. Finally, when DJ was almost 3, we were told she had a mitochondrial disorder and that the specialists she needed were in another city almost 3 hours away. So, once again, we moved.

Upon arriving at the Children’s Hospital in Alberta (Canada) we were shocked to hear that the specialists there did not agree with DJ’s diagnosis. Once again, a battery of tests was administered and after many months, new findings were discovered. DJ’s MRI showed polymicrogyria (many more folds) over almost 75% of her brain. A muscle biopsy was performed and confirmed a diagnosis of CMD merosin positive. DJ was a month short of being 4. We had a diagnosis, but little information about what that meant.

When we had moved, an excellent team of therapists (OT, PT, SLP, and Behaviorist) was put in place that helped guide and support our interventions. DJ began going to preschool two mornings a week, supported by an educational assistant who also worked with her in our home part time. DJ loved being with the other children and loved school, although her ability to participate at the same level as the other children was noticeably different. We continued to work intensively on her therapy, and saw progress in many areas. DJ’s processing speed improved to only a second or two delay on average, and she started to speak in 3-4 word chunks, especially when prompted or if she used a ‘practiced’ phrase. She began running short distances with her own special gait, and began to show signs of trying to control her emotional outbursts. We still had many challenges, yet we could see progress being made. Sensory issues still abounded, but we had in place some strategies that sometimes seemed to help. In the summer of 2008, DJ rode her two-wheeler with training wheels for the first time, all on her own, without elastics holding her feet to the pedals. It was one of those moments that took our breath away, watching her ride with such enthusiasm and independence.

In September 2008, we experienced our first ‘neuromuscular clinic’ where we spent 6 hours going from one specialist to another with DJ. We both were surprised to hear the neurologist comment that if she hadn’t seen DJ’s chart and knew the history, she would wonder why she was in their clinic. We were confused by that, knowing the complexity of her needs, and asked what she meant. I think time slowed down for us both when she said that she would have expected to see a child not walking, talking or self-feeding, based on the test results. Tears in our eyes, we literally had to sit down. We had no idea that this was supposed to be her prognosis.

DJ will be turning five in just a few short months. She has come so far. She is attending preschool 3 afternoons a week with her assistant, loving every bit of it. She is enjoying playing interactively with her sister and almost nightly they can be found chasing each other around the house, giggling and squealing. She is speaking in 4-5 word chunks now, although we still need to interpret meaning to others as she tends to say just the key words. She loves going swimming and chasing grasshoppers outside. She still loves jumping, she still loves anything that spins (you should see her expression when she sees a windmill!), and she still loves music. She often can be heard singing to herself before she even gets out of bed.

At some level, it is difficult to see Anna already out speak, out run, and out play DJ, yet we know that everything DJ has learned or gained, she has worked so hard for and acquired, despite the challenges that she faces. Things still are not easy for her many days, and she often has difficulty self-regulating her emotions. We still wonder what makes some days better than others. Just this past week, we learned that DJ is having frequent absence seizures when awake and asleep. Maybe this will help explain the scatter skills and inconsistency she lives with. Maybe this new finding will provide another level of support to help her be the best she can be.

No one could have predicted that DJ would be faced with the challenges of CMD. And yet, here she is, defying the odds, starting to be able to more consistently show once again the joyful soul she has behind the frustration and challenges. She is our miracle and blessing, and we believe with all our hearts that she has amazing gifts to share with this world. We cannot predict her future – but we too, live every day with optimism and hope that a cure and treatment for CMD will be found.

We know her story has just begun.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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