Papanastasiou Family: "Good" days are fleeting with Mitochondrial Disorder

The Fleeting Nature of Good Days 

By Beth Papanastasiou

My daughter Bella was born 4 years ago with a very rare genetic disorder called Pontocerebellar Hypoplasia type 6 (PCH6), a mitochondrial disorder that is degenerative. She was given an 18-month prognosis and doctors told us to take her home, love her, and make as many memories as possible.

And here we are, over 4 years later, making memories. We’ve shared wonderful, problem-free days, and also fought through a lot of very bad days. The word “good” is all relative when you have a child with a life-limiting condition. “Good” is quite fleeting and your understanding of the word changes— sometimes from day to day, week to week, year to year.

Bella sets the mood of the day at our house. When we first brought her home and were trying to find the right cocktail for her seizure medications, there were a lot of bad days. I would sit and just hold her and cry, not being able to do anything to help her poor little brain calm down. When we got the seizures under control, the days started to get better. As we progress through her condition, it means doing what we have to do to maintain “good.” Whether it is more medication, more oxygen, a feeding tube, or more suctioning throughout the day. And I suppose when you deal with it day to day, you don’t really see so much how the disease is progressing and how much more you are doing to hold that line until you look back to where you started. Slowly, you learn to create a new normal and to adapt to it, setting new expectations of what a good day looks like.

I sometimes forget how normal it is and how comfortable I’ve become in talking about Bella, her condition, and our reality. Not that it doesn’t pain me beyond belief to talk about her struggles, but it also is a way to express myself. I am a member of a PCH support group and of course I can say anything to those parents. They know exactly what I’m talking about. It’s their “normal” too. So, it’s not shocking for them to hear what I have to say and consider a day a “good” day. But if I talk openly to others who are not in a similar situation about Bella, our daily life and routine, they are shocked. They cannot imagine living under these restraints, requirements, stresses, exhaustion, and limitations and calling any day a good day.

So what makes a day “good?”

Perhaps it’s just knowing that you did all you could to make your child comfortable, despite how challenging or hard the day may have been.

Maybe it’s just that your child had a few less seizures than usual and you didn’t even need to give extra doses of medication.

Maybe it’s getting the chance to spend more time with your child to play or read a book or just cuddle.

Or giving your child every opportunity to reach their potential.

A good day might be when your child perseveres despite the challenges.

Maybe good is just realizing that you have this one more day to share with your child, and you made the best of it.

At the end of the day, I feel like I had a good day when I know that I did everything in my power to make Bella’s day a happy one, make her as comfortable as I could, and show her as much love as humanly possible. While sometimes I feel like we go through stages when there are many more bad days than good ones, Bella, so far, has fought through them and returned to her baseline. I know that someday that won’t happen, and she will be tired. But for now, I will fight for those good days with all my being, try to make even the hard days the best they can be, and give her everything she needs and deserves to live the best life of which she is capable. I know that my idea of a “good” day will change many more times during Bella’s time with us. The “normal” will change and I will grow to accept things that I never thought I would need or have to. But as long as she is comfortable, pain-free, and she continues to give me those tiny signals, that only I would understand, that she is happy and wants to keep fighting, I will fight for her, and beside her.

 

Walk Through a GOOD Day with Bella and Her Mom

I wake up at 6am feeling relatively rested because Bella slept through the night with no issues; the feeding pump didn’t go off in the wee hours of the morning, her oxygen stayed above 95, and she didn’t have any seizures during the night.

I enjoy a fresh cup of morning coffee and get started on my work. I feel lucky if I get most of it done before Bella’s routine starts and Bella’s two-year old sibling wakes up.

Bella wakes up with not too much gunk or reflux and we can complete her chest PT and morning routine with no issues. She gives me a few early morning smiles. I dress her while telling her how pretty she is. I put her trunk support and wrist braces on, and sit her up in her chair and she is calm. I am able to sit down for a few minutes and drink some of my second cup of coffee while it’s hot; before I have to reheat it three times.

She takes an early nap and wakes up again around noon in time for school (via distance learning). Bella has a fun day at school as we sing songs, work on an art project, and play with a sensory toy that allows her to experience a new smell, feel a new sensation, or hear a new sound. She sees other children, albeit through a screen.

Throughout the day she doesn’t have strong jerkies. She coughs on her own when she needs to, and doesn’t need deep suctioning more than two or three times. The feeding pump doesn’t get clogged or go off at random times.

When her feed ends, there’s not too much reflux and she is comfortable. We read a book (her favorite books are ones that are larger and have bright colors), or watch a show, play a game, or play with her sisters. She smiles as her little sister gives her a toy or a hug.

It’s wonderful if we can fit in a walk, since Bella loves to be out in the fresh air and feel the sunshine on her skin. After the walk, she comes downstairs with me to motivate me while I do a workout.

I remember to give all of her medications on time, and there aren’t any poopy blowouts. Evening comes and Bella accompanies me in the kitchen while I make dinner and her food. We listen to music together. She’s good company in the kitchen and I love to have her close so I can look over and see those rosy cheeks.

She doesn’t get any early evening jerkies or have reflux. I give her the evening chest PT treatment while talking to her about the day, and get all the gunk out so she can sleep peacefully. I lay her on the couch next to me to rest while we finally all come together as a family to relax for a bit before going to bed.

She is calm and cuddles in with her soft blankets and falls asleep on the couch. I put her in her crib and she falls asleep. All her stats are where they need to be, and she is peaceful and quiet. Her dad and I get a few minutes to talk, cuddle, or just sit together before one of us goes up to bed and another stays on the couch to sleep next to Bella that night. Bella gets her late medications and remains asleep. I get to bed before midnight.

And as I drift off, I remember that it is in fact Bella who gave me the best day of my life—the day she was born and she made me a mommy. Now it is my turn to make every one of her days the best day of her life.