Notes from a Rare Disease Mom

Thea was home sick with a fever when I first learned about Sammy’s death.   I was making pumpkin pancakes hoping that extra carbs might give Thea a boost as her body fought the latest sickness going around.   I picked up my phone when it beeped and saw a text from my sister-in-law that said “OMG Sammy!   What happened?”   I ran to check our Facebook group with a growing sense of dread.   I scanned the posts until I found the announcement that Sammy had passed away in the night.   I was in shock.   Sammy was the first tango2 child that we found in the world.   He brought so much joy and hope to our family.   How could he be gone?   In a flash, I feel small and alone.   Our children are sick and there is nothing I can do about it.   I can’t stop it from happening.    Sammy Another tango2 mom and I message back and forth throughout the morning.   Her thoughts and texts bring me some comfort.   I...

When Thea first started preschool, I would walk out to the busy playground to pick her up after school.   Each time, instead of playing with the others, I would find Thea sitting alone quietly or snuggled next to a teacher.   This broke my heart a little bit each time though I understood why.   Thea had just learned to walk and when other kids bumped her, it threw her off balance and she would cry.   She couldn’t handle most of the playground equipment and she had just started speaking a few words and phrases.    Thea's First Day of School Once, during pick up, a boy from Thea’s class approached me and asked, “Is Thea is baby? She can’t talk.”   Not really knowing what to say, I responded, “No, she is the same age as you,” and walked on.     I told myself that the boy was just curious, but it still made me sad.   During mito awareness week, I gave Thea’s teachers a book that was kid friendly and explain...

After leaving the hospital with Thea’s diagnosis looming on the horizon, our friends and family wanted to support us.   We didn’t know how to direct their support, until a friend mentioned that she knew someone who had a child with mitochondria disease and they did a walk each year to raise money for research.   We signed up for the walk and asked our friends and family to do the same.   Soon Team Thea had hundreds of walkers and donators all showing their support.   Words cannot express how much this lifted the burden of our fears and doubts.   Instead of dwelling on the unknown, we were cheering each time Team Thea got another donation, another walker, and another demonstration of love and support.      Thea and a friend at the UCSD Mito Research Fund Walk I met the woman who organized the walk in the weeks following the event. We immediately fell into conversation easily.   I found so much to share with her....

I first began to suspect something was different about Thea when I started to take her to daycare.   She just seemed less active, less aware, and more babyish than the other toddlers.   She wasn’t walking at 18 months.   I heard so many reassuring stories about kids walking late and it turning out fine but something still didn’t quite feel right.   I remember walking into daycare and one of the moms asking her daughter if she needed to go potty before she left.   I was shocked.   Thea was not even able to communicate with me let alone start potty training.   I asked the teacher about it and she said that the child was just an early learner.   I smiled at the teacher, thanked her, and sat in my car.   As soon as I closed the door, I began sobbing.   Around this time, Thea also began laying down with her ear to the floor.   My husband and I studied her as she lay there.   We thought maybe she had an ear inf...

About six years ago, before Thea was born, I started doing yoga regularly.   I had always been a runner but running all of the time was starting to hurt my knees and I needed an alternative.   I began going to a yoga studio near my home but all of those years of tightening my body through miles of running made stretching very difficult.   I was nowhere near touching my toes.   Fast forward to 2018, and I wish this was the part of the story where I tell you that now I am amazing in yoga class- that I can get into all kinds of crazy twisty positions but that’s not the case.   I’m really bad at yoga…still. Don’t get me wrong, I’ve made progress.   My toes are now reachable and I’m pretty proud of my headstand but yoga is still a struggle.   Why do I deal with this struggle?   Because I’ve never done anything that made my body and my mind feel so good.   I learned how to really relax in yoga class.   When I tried my first hot yoga class, ...

After our daughter’s diagnosis, of tango2 mitochondrial disease we were left with so many questions.   We were still wrapping our heads around the diagnosis and each day was more exhausting than the next as the information slowly sank in.   Our neuro-metabolics doctor recommended that we attend a mitochondria disease conference in Washington that summer.   Several doctors would explain the disease and we could meet them and learn more.   Attending the conference, we expected to learn a lot from the doctors, but we didn’t anticipate how much more we would learn from the families experiencing mitochondria disease.   There was so much kindness in the room.   Each family shared their stories and their invaluable tips for day to day life.    UMDF conference in Washington We kept running into one large family in particular with several older children and a baby.   The mother was especially warm.   The tiny sweet baby in her arms ...

In 2017, my husband Tyson and I had returned from our long hospital stay with a rare disease diagnosis for our daughter.   The only treatment they had was a mixture of vitamins and enzymes to boost energy.   I felt totally deflated.   How could vitamins possibly do much of anything to prolong her life or promote her health?   I didn’t take them myself because I took a health class in college that taught us that most people didn’t need them and just peed them right out.   However, to our surprise, within a week of returning home, Thea was WALKING for the first time.   Suddenly, our physical therapist was working on getting her to walk longer distances instead of trying to get her to walk at all.   We were thrilled.   Could the vitamins really be doing this?  How else could we explain such a jump in progress?  To top it off, Sammy, the one other child we knew with Tango2 disease, had the same success with the cocktail so we began to hop...