Wednesday, September 18, 2019

What is Alpers Syndrome?

M I T O C H O N D R I A L  D I S E A S E.  A L P E R S  S Y N D R O M E.

You can imagine it is hard to understand such big words, let alone someone telling you that it's now part of your child's new diagnosis.

Alpers disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome that often happens in early childhood characterized by symptoms like seizures and liver disease. This disease affects one in 100,000 people. There is no cure, and no way to slow progression.

January 19, 2018
How in the heck was I supposed to understand this? I woke up the morning of January 19, 2018 to good news. After morning rounds Dr. Brockman, Brecken's pediatric doctor, came by and told me that we would be taking Brecken's breathing tube out! I was so excited and hopeful that we were making progress in the right direction. After successfully removing the breathing tube, I got to hold my baby boy for the first time after three weeks, and in that very same moment the genetics team walked in. And those words forever changed my life.

The day I thought we were making progress, was also the day that I was told my child had Alpers Syndrome. The day I thought my baby was healing and getting better was also the day that they told me he had a life threatening disease. The day I got to hold my baby for the first time in three weeks from the start of his symptoms was the same day I realized I needed to hold my baby boy as much as I could because he was not going to be here with me for much longer.

Individuals with Alpers Syndrome usually do not show symptoms at birth and develop normally until the first weeks or years of life. First onset is usually classified by a seizure that most times does not respond to medication control. Other symptoms include loss of muscle control, low muscle tone, loss of developmental milestones, visual loss, and liver failure. Alpers syndrome is a mitochondrial disorder affecting the energy source of the body, it is like their body is running on an empty battery.

January 21 2018
So as I sat there, after they kinda laid this all on me and walked out the door, with my sweet little boy in my arms, facing what might have been an impossible fake unrealistic new reality. What did this mean for my innocent baby and how was I going to do this? I was a nurse, but not to my own child. And how was I going to tell my family and friends that my child was going to die?

Mitochondrial diseases are genetic. That means that Brecken got the recessive gene from both myself and my husband. A 25% chance. Not only did that affect Brecken, it could affect Easton, our then two year old, as well as our future. Would I be able to fulfill my volleyball team wish of having a large family? The day the genetics team came and told me my baby's diagnosis was the day I felt my future get ripped out from underneath me. So I sat there, held my baby in my arms, and cried.

Alpers Syndrome is what took my baby away from me. Brecken's body was unable to keep up the energy to sustain life, and eventually he went into liver failure. This week is Mitochondrial Awareness Week and I will never stop raising awareness for what affects so many people and children like Brecken. I encourage you to educate yourself. Learn something new. Light a candle. Moving forward I hope to educate you and others on what exactly has been a life changing part of our journey and world.

And I pray. One day. There will be a cure.

1 comment:

  1. I remember that day all too well... I am glad I was there with you. Love you dear