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October 13, 2005…The day my first beautiful daughter Michaela came into the world was one of the most blessed days of my life.  I loved to stare at her big brown eyes, full head of black hair and all her little fingers and toes. I couldn’t get enough of staring at her and admiring the creation she was. Two weeks into her life we received that call that no mom wants to hear. We were told that Michaela’s new born screening test had triggered.  We were advised that she and I needed to have further testing done immediately to determine which of the metabolic disorders she may have.  They started her on levocarnitine immediately. They told us to shelter her and not expose her to germs. They told me to start a low protein diet. All that baby weight fell off in an instant and I began losing more weight beyond what I should have ending up around 100lbs. I remember holding Michaela when I found out and praying to the Lord that He would let us switch places. A strange prayer now in retrospect. When I was younger I thought I should bargain with God. Silly me. I should have been praying health for BOTH OF US. Two weeks later the phone rang and I heard the only words I wanted to hear…”Michaela is not positive for any metabolic disorders. She is just a carrier.”  The doctor went on to say, “however you have tested positive for 3MCC.”  In that moment I didn’t care. I fell to the floor and cried.  I was alive at 30 years old and had not made any connections that my health issues through life in the moment could have been related to this 3MCC. I was advised to see a specialist at Boston Children’s which I did. Because my carnitine was extremely low they put me on what was supposed to be a “therapeutic dose” of levocarnitine. This made me extremely sick in combination with a low protein diet. I was not nutritionally supported the way I needed and the carnitine was wreaking havoc with my system at that dose.

In retrospect I had health problems that doctors could not explain. I was weak as a child. I didn’t walk until I was about 18 months.  I would fatigue easily. I had a lot of allergies and nearly bled to death when I started my period at age 14. I had nose bleeds that were uncontrolled as a child and struggled with bouts of anemia. As an adult I had every test possible. At one point I ended up in the hospital unable to absorb foods well, weak and having tremors.  I remember the doctors standing around me and basically saying to me…this is all in your head like this was a mental illness.  I refused all carnitine while there. I cleansed my body and after about a year of supplements and real food again I started to recover fully. I left the carnitine and treatment options in the dust because I could not believe how sick I had gotten. I became untrusting of this medical system that was supposed to help me.  Many years later when I was about 37 all the symptoms began again and I decided this time to find a new team. I went to Dartmouth in NH. I found an amazing team there who helped me for the first time truly understand 3MCC, how it worked and what treatments now would help. We started the levocarnitine at a much lower dose than it had been initially prescribed and that was more than enough to get me into the right blood level range without harming my system. I went on 660mg vs 1980mg per day. I was started on X-Leu Maxamum which is a protein supplement from Nutricia America that allows me to get ample amount of protein without the leucine. This time around 12 years later, Nutricia America had insurance specialists to navigate the complexities of the medical world and coverage. I was a medical social worker and for years I could not get this product covered through insurance on my own. I would sit there and sob not just for me but more so for moms who only knew they had a sick child and had no idea how to navigate a medical insurance system with pre-authorizations, scripts and supporting clinical notes. I vowed then to make sure if I found the answer, no other mother would struggle the way I did trying to help themselves or their babies. With this formula and the levocarnitine, I have been able for the first time in my life to eat enough protein to actually be able to build muscle mass! I can exercise and walk miles. I can hike, bike and climb mountains. All of these things before would put me down for days as my body tried to recover. I am so thankful how far science has come with all of these metabolic disorders since I was diagnosed. At that time in 2005, the doctors were telling me from what they could tell I was the 13th person in the world with it. I thought boy…lucky me. Now we know it is far more common. There are lots of people among us walking around asymptomatic. For those of you who were diagnosed even as adults and have had lifelong health problems- I am living proof that it is never too late. It is never too late to find the right treatment and to grab on. I started a Facebook group called “Living with 3MCC” which is full of moms and dads who have walked this journey. Now that some of those initial kids diagnosed are becoming teens and adults, I have no doubt that there will be many more adults showing up with lots of wisdom to share. This will help us all as we age and more and more people are finally diagnosed. It will be so helpful to know each other’s stories and share resources. I vowed to myself that no mom, dad, family member or human would have to go through this journey alone and scared like I did for many years. This is my way of giving voice to all of you who may be reading this for the first time and wondering “where do I begin?”  You are not alone. WE are many. Together we are strong.

Jericho, Vermont

From the Spring 2021 OAA Newsletter

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