Bean’s story

Our little Isabelle, aka, Bean, was our third child.  Due to her breach position, she entered the world via c-section.  Despite many troubles right away with nursing, we considered her to be a normal, healthy, beautiful baby.  She was born with contractures at her ankles, but they thought this was just club feet and would not need more than braces to correct.  As the months went on, we noticed she was not making milestones as she should for her age.  She couldn’t hold her head up when she should have and was overall floppy.  At our 4 month check-up, we told the doctor our concerns and he agreed she seemed very low tone.  He sent us to the neurologist at the University to have her checked out.  We met with the neurologist within the month and she ordered a muscle biopsy, noting that there indeed was very low muscle tone.  Isabelle had a muscle biopsy when she was five months old.  This was looked over and they said it was normal.  We then went ahead with other tests, including nerve tests and finally an MRI when she was 7 months old.  The MRI showed changes in the white matter of her brain. This prompted them to go back and test her muscle biopsy for the protein Merosin and they found she had deficient in this protein.  She was diagnosed with Merosin Deficient Congenital Muscular Dystrophy at 7 months old.

This diagnosis definitely rocked our world.  We were told over the phone and left to wonder what this really meant for her and our family.  Once we were able to get into the clinic and talk with the doctors, they told us little about her disease.  At that time, they told us she may walk and that she would have a normal life span.  They really were positive about her prognosis, but very general.  It seems in an instant, all of the dreams that you have for your child just fall to the floor and you are left wondering what will happen.  I really had to grieve over this and accept that her life would be different but that did not mean it had to be bad.

As time went on, we did learn more about her disease the hard way.  When she was a year and a half old, she got a typical cold.  We took her into the doctor on Friday night and they said she just had bronchitis.  We did not know to be more cautious with her so we went home.  By Sunday morning, she was fighting to breathe and had not eaten all weekend.  We took her back into the ER Sunday morning and by then she was diagnosed with severe pneumonia and was severely dehydrated.  We were sent by Lifelink to the University Children’s Hospital where she spent the next three weeks in the hospital, at that time getting a feeding tube and a Nissen Fundoplication (for GERD).  This brought to our attention to how serious respiratory illness can be for these kids.  Those next few years were tough ones with colds almost always turning into pneumonia and hospital stays.  We are very fortunate to have always had very good doctors.  We started using a Vest, which shakes her up and nebs, right away when she became sick.  I believe this did help her get over colds with more ease.

Isabelle is now 8 years old!  I am so thankful to have Isabelle and she has blessed me in such huge ways!  She is a girl who loves life, people and is always so positive and happy!  She has taught me not to take things for granted, like opening a marker on my own.  Isabelle remains weak overall.  She has never attained walking or even weight bearing on her legs.  She has always struggled with scoliosis and has had a rod put in this past summer.  The rod has helped immensely!  Isabelle is schooled at home with her two other sisters.  She swims a few times a week, does daily stretches and exercises at home, stands in her stander every day and uses a power wheel chair for her mobility.  Sometimes Isabelle talks about wanting to be able to walk, but she knows that she will probably never attain that.  She knows that she has a bigger purpose here on this earth.  She knows her life has affected so many other people around her and that God uses her in huge ways to help other people!  I thank Cure CMD for their help in fighting to help treat these diseases!  Together, we can make a difference for these kids!

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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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