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.

Friday, September 13, 2019

My Baby is Going to School

Monday I sent my four year old off to his first day of Pre-K. My original plan was to keep him and his brother home as long as I could, because who wants to send their kids off into this crazy world.  After the loss of Brecken we decided it was best for Easton (and me) to attend school with friends and a teacher besides his mom. Because to be honest, he started to not like me teaching him, and that wouldn't work if I kept him home. 

The first day I sprung the news to him that he would be going to school he politely informed me that he was in fact NOT going to school because he knew everything already. Well then. So I followed up with a question. If you know everything than what is 2+2?  He then very confidently responded with a ... mom that is easy, its 4.  Um. OK. But your still going to school.

I spent the last few weeks getting him all ready. Cute over sized backpack... check. Snacks... check. New school clothes and shoes that actually fit... check. School supplies... check. Convincing him that he actually had to go to school.... hard but check. The only item unchecked was finding the mom strength to let him go. 

It was so much harder than I thought. After I watched him balance on that magical yellow line and go with his teacher and all his new friends to their classroom, I lost it. My baby boy that day wasn't so little. He was confident and happy and ready. Now don't get me wrong, I was excited for him. I am so happy this little chapter of his life is starting. But it was really really hard. 

It was hard because I got to send my four year old off to school but I will never get to send Brecken off to school It was hard because I got to make the cute class of 2033 shirt for Easton but I will never get to make a shirt for Brecken. It was hard because I got to watch Easton walk off with that over sized backpack and see the excitement on his face, but I wont ever feel that with Brecken. I got to check off all the boxes with Easton, but I will never get to check those boxes off with Brecken. So it was an exciting day but it was a hard day.  And that is OK.

One week down and school is going great. Easton loves it. It has been bittersweet but I stay strong for Easton. And I know his little brother is up in heaven cheering him on too.

Happy School year to all those kiddos and parents! Be strong.