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Family’s Mission to Save Babies

  • My husband and I grew up in very large families.  We had around four hundred people in attendance at our wedding.  I was the middle child of a fun-loving family of five.  My growing milestones consisted of playing dolls with my cousins, helping out in my mother’s Kindergarten classroom and eventually babysitting for over thirty children before I would go to college, marry and have a family of my own.  When my husband and I found out we were expecting, of course, I went to the best OB-GYN in the area.  We took parenting classes and read many parenting magazines and books.  I ate all the right foods and took my vitamins as the doctor ordered.  I even had a head set to place on my stomach during my pregnancies so our babies could listen to Mozart every night.  I knew everything there was to know about having and caring for children or so I thought.

    My pregnancies and deliveries of our three children were typical.  The first pregnancy, I was sick all day which made me wonder, how the term morning sickness ever came about if women were sick all day.  The next two pregnancies I only had the tired and uncomfortable symptoms which I was thankful for.   All my deliveries were on time and the healthy babies all weighed in over eight pounds.  There was no doubt in my OB-GYN’s mind, we were the perfect patients.

    Our first child was a healthy baby boy.  We left the hospital scheduled to see our family doctor, my doctor growing up, within the first week of his life.  After non-stop feeding, my motherly instincts just knew this baby was not getting filled up.  My mother had fed my sister cereal before they even left the hospital years ago so I knew this was an option.  After consulting with my doctor, I decided to start this one week old baby on rice cereal which we did not realize at the time this would be his life-line.  We were blessed to have a loving care team for our new baby, my grandmother, my dad and my mother-in-law all cared for him so I could return to the work force.  During that first year as this healthy baby boy continued to eat, my dad would run out to the local grocery store to buy more food for him other than what we had supplied for the day.  My husband and I would tell my dad you are going to make him sick.  There is no way any child can eat that much food.  We would be eating our words years later as my dad was truly keeping our son alive.

    Almost four years later, my husband and I were thrilled when I delivered a healthy baby girl.  She seemed sleepy and ate often just like my son.  She was doing everything a newborn should be doing.  I remembered being a little more concerned with her hearing and the nurses assured me her hearing test was fine.  I convinced myself that I was just over reacting to that motherly instinct.  We left the hospital and would go to her first check up at one week old.  Except this time, we would not make it to that first healthy and happy check-up without first receiving a phone call from her doctor.  Since this was my doctor all of my life, I wasn’t really alarmed when she called me.  As she started to explain over the phone that her Newborn Screening test came back positive, I was starting to realize this was not positive news.  The test indicated she had a rare metabolic disorder called MCAD.  I was told that we needed to see a Specialist right away which would mean us traveling two hours away.  I just sat for the next few hours holding our baby girl completely in a state of shock, confusion and denial.  It was heart breaking, painful and tragic.  The world was moving on and our world was standing still.  That renewed hope a mother should feel and deserves to feel was gone.  I prayed, I cried and I thought about what her future meant and how I was going to break the news to my husband and our large families.  I had no words other than Newborn Screening and MCAD.  This baby looked completely healthy and all my years of caring for children I had never heard about Newborn Screening or MCAD.  At this moment I knew our family’s life would have special mission. 

    Before we made the long drive to the Specialist we went to see our family doctor who would reassure me with many hugs and loving words that I still cherish today.  We really had a loving Genetic Specialist also.  He explained how my husband and I both had to be carriers for our daughter to have a mutation of this gene.  He told us that our chances of having a child with MCAD were one in four.  He explained that the MCAD disorder was an inability to break down and store fatty acids that gives our bodies energy.  So once the body runs out of glucose it has no energy stores for the body to thrive on.  The Specialist also said that in the past a child with MCAD was at high risk of death within the first two years of their lives since it is not a visible disorder.  If the child gets sick it would starve their body to death resulting in a mis-diagnosis of SIDS.  Hence, the MCAD disorder has been known as “the silent disorder” or “silent killer”.  The solution was to feed our daughter every two hours around the clock.  Which would mean us never getting to the stage every parent yearns for by having a baby sleeping through the night.  We also went over our oldest son’s health history that day.  He was almost four years old and had not been sick much.  The Specialist also told us that our daughter’s MCAD diagnosis was picked up through the Expanded Newborn Screening (which  we had to sign a form in the hospital where we delivered her for the diagnosis to be detected) and that our son would have missed the testing as it was not added until three months after his birth.  The Specialist did not believe our son had MCAD since he was alive and healthy.  I think at this point I was still in denial that my daughter had a rare condition when she looked and seemed just like any other healthy baby.  I couldn’t even wrap my brain around the idea of having another child with a rare condition.  The Specialist and the Dietician also explained that later in life she would have to be on a low-fat, high carb food plan.  He also explained that there was L-Carnitine, a supplement, she could take but he did not feel this was necessary for her.  The Genetic Specialist wanted us to confirm her diagnosis in his hospital’s labs by re-running blood samples and urine samples to verify the Newborn Screening results.  Before leaving that first Specialist appointment, he gave us an emergency protocol letter that says if this child shows up in the emergency room, she was to be emitted immediately and IV started.  He also gave us his home phone and cell phone number in case any emergencies arise.  It was very overwhelming but our Genetic Specialist was beginning to feel like extended family.

    When our third child was born we couldn’t be happier as he too was a healthy looking baby boy.  He ate well and was doing everything a newborn should do.  We were feeling very blessed.  We told the hospital to make sure they tested for MCAD and we made sure the hospital had our family doctor and our Genetic Specialist phone and fax number to send the Newborn Screening results.  Until we knew for sure the results, we treated him as if he did have it with many feedings and monitoring his every move around the clock.  Within a week of his birth we would have a diagnosis and he too would have MCAD.  We would be back in the Specialist office running more blood and urine test just to make sure the diagnosis was accurate.  Somewhere in between the birth of our daughter and the birth of our youngest son, we did run testing at our local hospital for our oldest son.  Except, the testing the Specialist ordered was not completed accurately by the local hospital to get a confirmed MCAD diagnosis.  We already had come to terms that our oldest son had MCAD before we even received the confirmed testing as he had many signs and symptoms of the disorder.  However, after the birth of our youngest son, we decided to have the testing re-ran for our oldest son in the labs at the Children’s Hospital for proper handling of the blood samples and testing.  So here we are, eventually confirmed MCAD (Medium Chain Acyl-CoA Dehydrogenase) for all of our children.  We now know what MCAD means (as far as the definition) and that Newborn Screening is the most important testing of a child’s life.  We have embraced our family’s mission of keeping babies healthy and saving lives.

    It has been almost a decade ago when I got that phone call.  We have spent much of our time and energy since then caring for our children that have MCAD while researching the best treatment options.  Our children have been in the hospital seven times total between all three of them.  While this may seem like a lot to someone that does not have MCAD. This is extremely low compared to what some other MCAD and metabolic disorder children have had to endure.  This does not dismiss or minimize the amount of doctor visits, medications and caring for them that has to occur.  Even though this disorder is not visible to others that know us, it is always in the front of our minds and hearts that their lives are at high risk of ending all too soon.  Although, no one can prevent their children from getting sick or even death we daily plan out their health and we are a scheduled driven family.  We walk a fine line everyday that I didn’t even know existed in life.  It has always been our hopes that somewhere between here and there our children will know that they can accomplish anything they put their minds too.  Our children are much in the same as they were those very first days of their birth.  They eat every few hours and it needs to be a well planned healthy meal and snack.  Our children are very active and participate in many activities including sports and they can accomplish this by drinks, snacks, and scheduled rest.  We have to think and study every aspect of life.  I did not learn this from the four Genetic Specialist we have seen since our first diagnosis.  I have learned this from a mother’s intuition.  I have learned this from what I had grown up knowing how to do and that is to care for children to the best of my ability.  While I wouldn’t say I was an expert, as most of what we live with every day has yet to be documented in any medical books, I would say that I am experienced.  Besides their overall health plan we have to put a lot of thought into each piece of our lives whether it is religion, school, all their extra activities, friends, social settings, travel, mood, muscles or pain, weather conditions, and stress levels.  Everything we do each day takes energy and we have to figure out where we are going to spend ours.  I am no longer a parent that is only concerned with what we are making for dinner and how we are going to tackle the homework.  I am a mother that wants my children to live life as though this is the last day we are given.  Since our diagnosis our family has participated in research for this rare disorder.  We helped create a User Guide, for parents, as a communication tool with day cares, babysitters, and school faculty.  Basically anyone that will be caring for these children with rare metabolic disorders needs to be informed and educated on their care.  My oldest son has raised money to help a family with medical bills and to fund on-going research.  We have written articles of awareness.  We have many other projects in the works.  Although we have not met another family with MCAD we support many families virtually.   MCAD is becoming one of the fastest growing metabolic disorders known since it has been added to the Newborn Screening test.

    Although the roads have been rough and less travelled, it has been a joyful adventure.  Our family cannot even begin to say thank you enough to every Scientist, Doctor, Researcher, and Parent Advocate that spent tireless hours working to get MCAD added to the state Newborn Screening panel.  They all believed it was a livable condition and they believed in saving babies lives.  While MCAD has been added to the state mandated testing we want to make it known that there are children and adults living with this disorder that have not been tested.  It is very possible to live a healthy life with MCAD and not know until a crisis occurs.  There is not a day that goes by that I do not think and pray for those hundreds of children that have died from MCAD and the thousands of children that have died from rare disorders.  While we have come a long way with medical advancements, until every child lives a healthy life, we are no-where near mission complete.  That day when I received the phone call is now one of the happiest days of my life, as I now understand how much work and passion for life went behind that one phone call.  We have been blessed by the work of many, we have felt relief when our children met milestones, we have felt joy at every birthday, we have seen their bravery during hospital stays or when not well, we have seen their courage and determination when wanting to go beyond their boundaries, and their humbleness they bring to keep life real.  We want to also thank those family members and friends that have encouraged us and we feel blessed to have your support and understanding our of children’s needs.  Our children are full of motivation and they are wise beyond their years.  A few months ago our oldest son approached my husband and I explaining that he wanted to try out for an activity at school.  I think he could see that worried look in our eyes, or maybe it was our body language, or maybe it was the pause in conversation that led him to say the next words to us.  He just looked at us and said, “If I don’t try then I will have felt as though I have given up and I don’t want to just give up”.  It would be our hope that every person could see the world through our children like my husband and I have.  While most children spend their lives looking up to their parents for guidance, we have spent much of ours learning from our amazing children.  Our family’s mission of saving babies and raising awareness about Newborn Screening will continue and we will not give up until every child gets a chance to try at life.


    Kelly, You and Chad have done a wonderful job and have three exceptional children. God has blessed them by giving them you and Chad for parents. Linda

    Wonderful article, Kelly!! So proud of you and Chad! Hope this helps another family facing the challenge of children with disorders or illness.

    Dear Huber Family, Thank you so much for sharing your story of learning how to live with what you knew in your heart was true for not only one child but all of your children. I am so inspired by your story. I know you have had no choice but to 'get on with the job' and do the best you can, but I believe you have just excelled! You are so right - we have so much to be thankful for yet so much more still to learn and have become 'experts' in dealing day to day caring and living with these very rare conditions. I wish you and your family the best with this

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