Monday, April 17, 2017

They Call HER Mama -Erin

I am so excited Erin agreed to guest post on the blog today. Erin and I have been friends for as long as I can remember. I have many memories with Erin growing up and even into adulthood....one being the birth of our first born boys. We had them just weeks a part...I still remember holding baby Frankie in the hospital as I was about to "pop," LOL! Erin opened up and shared about her life as a mom. I am so thankful that she shared something so close to her heart....thanks again Erin for taking the time to write about your family.

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I have known Emily for as long as I can remember.  We have so many fond memories of family dinners and Six Flags trips. When Emily first asked me to guest write on her blog, I was very hesitant.  My blog is basically something I have at the end of the year to just print and have for keepsake.  Ha!  I usually just post our pictures and add a little caption about that event.  I’m never too serious and very rarely blog about super meaningful topics.  When Emily mentioned that I could talk about Duchenne Muscular Dystrophy (DMD) and a recent walk we participated in, I knew I had to jump on the opportunity to share our story and help spread awareness for DMD.
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Some brief family History.  Trey and I started dating in August of 2002 and married in June of 2007.  We have three beautiful boys; Frankie who is 6, Colton is 4, and Jaxson Reid is 2.  God must have known that I needed to be a mother of boys.  I love and cherish every second I get to spend with my boys; they are funny, smart, caring, silly, handsome, and kind.  Every day was an adventure and life, as we knew it, was perfect until one day in April 2016, the words Duchenne Muscular Dystrophy were introduced to our vocabulary.  

Frankie has always been a small boy.  In fact, all my children are tiny.  On the developmental charts, they have always been in the tenth percentile in height and weight.  Frankie though, was much slower and weaker with his fine and gross motor skills, but he always met his childhood milestones, so like every parent, we just assumed he was a late bloomer.  At every doctor’s appointment we would express our concerns about his weakness, but we were always assured that there were no worries, just as long as he was meeting his milestones.  Trey and I would just brush it off and consider Frankie a “late bloomer.”  Next, we had Colton, who was basically born a star athlete compared to Frankie.  Once Colton started walking, we quickly noticed things in Frankie and just didn’t seem right.  For instance, we noticed that Frankie walked with an inward tilt, so we took him to the Podiatrist.  The Podiatrist immediately noticed Frankie’s walking problems and he prescribed Frankie with special inserts for his shoes.  I hoped that this would be instant improvement and he would now be able to run and jump, just like the other kids his age.  After a full year of wearing the shoe inserts, there was no improvement.  When we went to the follow-up with the Podiatrist, our lives would be forever changed.  The Podiatrist asked Frankie to walk down the hallway, run, jump, and stand up from a sitting position.  The Podiatrist quickly noticed that when Frankie stood up from a sitting position, that Frankie would use his arms, legs, and back to stand up, rather than just pop up like most kids.  What Frankie was displaying was referred to as Gower’s Sign.  The Podiatrist said to not to get too concerned but we should immediately follow-up with our pediatrician.  Of course I went home and look it up………..Gower’s Sign which was directly linked to DMD.  Frankie matched every single clinical symptom of a child with DMD. We took Frankie to the pediatrician the next day and tested his blood test for a muscular enzyme called CK.  A normal CK range is between 100 to 250…..Frankie’s was over 17,000.  A CK value that high in a child, along with his noticeable symptoms, all but confirmed that he has some form of Muscular Dystrophy.  From there we were referred to several doctors at Cardinal Glennon Children Hospital to confirm Frankie’s diagnosis.  They did more blood tests and determined that Frankie has DMD.  In August 2016, after waiting several months, we were finally able to see Dr. Anne Connolly, who is a pediatric Neurologist and specializes in MD at St. Louis Children’s Hospital.  After Frankie’s visit to St. Louis for all his doctor appointments,  we had blood work done on Colton & Jaxson.  Colton’s CK result was around 150, which was normal, but Jaxson’s CK was over 28,000. Talk about a double whammy.  We honestly never had a single concern with Colton, because he excelled at everything involving gross motor skills.  Jaxson Reid on the other had, I had a gut feeling that he was also affected.  I knew from the day he started to walk that he was yet another victim of DMD.  


What is Duchenne Muscular Dystrophy:
DMD is a genetic disorder characterized by progressive muscle degeneration and weakness.   It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact.  Symptoms onset is in early childhood, usually between ages 3 to 5.  The disease primarily affects boys, but in rare cases it can affect girls.


Symptoms of DMD: Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk.  By the early teens, the heart and respiratory muscles are also affected.  Timeline: In toddler years you may notice enlarged calf muscles.  As a preschooler, they may seem clumsy and fall often.  You may also notice the child having trouble climbing stairs, getting up from the floor and running.  By school age, children may walk on their toes or the balls of their feet with a slightly waddling gait.  To try and keep their balance, they may stick out their bellies and pull back their shoulders.  Many children with DMD begin using a wheelchair sometime between ages 7 and 12.  Transition to a wheelchair usually is a gradual process; at first, the chair may be required only to conserve energy when going long distances; eventually the child will be dependent on a wheelchair for mobility.  In the teen years, activities involving the arms, legs or trunk may require assistance or mechanical support.


Muscle Deterioration of DMD: The muscle deterioration in DMD isn’t usually painful in itself.  Because muscular dystrophy doesn’t affect nerves directly, touch and other senses are normal, as is control over the smooth or involuntary muscles of the bladder and bowels.  Lack of Dystrophin can weaken the muscle layer in the heart, resulting in a condition call cardiomyophy.  Over time, sometimes as early as the teen years, the damage done to the heart can become life-threatening.  Beginning around age 10, the diaphragm and other muscles that operate the lungs may weaken, making the lungs less effective and moving air in and out.  Although the child may no complain of shortness of breath, problems that indicate poor respiratory function include headaches, mental dullness, difficulty concentrating or staying awake and nightmares.


Causes of DMD: Little was known about DMD until 1986 when researches identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD.  A year later, the protein associated with this gene was identified and named dystrophin.  Lack, of dystrophin protein in muscle cells cause them to be fragile and easily damaged.  Duchenne has an X-linked recessive inheritance pattern and is passed to children from their mothers, or in extremely rare cases, a random mutation of the dystrophin gene.


(Source of info: mda.com)


Last weekend we participated in the MDA Muscle Walk to raise money for the local, St. Louis MDA office.  We worked out butts off to raise as much money as possible for our team and came out raising the 4th most out of 74 teams!  The MDA will use these donations to help support the 100,000 + kids and adults they will serve this year, along with funding research projects for new drugs and trails to find cures or treatments for MD!  All funds raised at this walk will stay in the local St. Louis office, so it could potentially benefit my boys directly.  We had quite the turn out and appreciate all the support from our family and friends.





We are still devastated after learning the news about 2 of our 3 perfect little boys.  Trey and I have had many ups and downs over this last year.  Sometimes we just cry, other times we pray.  I will always remain faithful to God, which in all honesty, is probably the only thing that held me together at times.  We remain hopefully and extremely optimist that researchers with find a cure or treatment that will save our sweet babies from this horrible, deadly disease.  We are strong, we have a good support team, and we will not let this disease define us as a family.  Frankie, Colton, and Jaxson are strong willed & determined, I know they will face this head on.  Life is 100% what you make it.  The silver lining in all of this for me is that now I live everyday like it’s my last.  You are never promised tomorrow.  I am more determined and focused on being a strong presence in my children’s daily life.  I never take any opportunity for granted and we make the best of every situation.  God choose us for this life, I definitely don’t understand why, but I know that he will guide us and show us his plan when the timing is right.
I am so grateful to Emily for allowing me this opportunity to share our story and spread awareness for DMD.  If you don’t take anything else from this please challenge yourself to live in the moment and be present, even in the mundane of daily life.
If you would like to follow our daily life, I can be followed on Instagram @erindboyer or you can follow the boy’s story on their Facebook page: facebook.com/frankieandjaxsonsjourney



XOXO

Erin

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