Faith Over Fear: Unexpected Challenges for our Family

I’m never quite sure how to begin a blog post when it’s about a very difficult subject and unfortunately, this isn’t the first post I’ve written where I’ve had to take a lot of time, thought, and emotional fortitude before I could begin composing my words. After we lost our first baby so suddenly, it took me several months to be able to share that gut-wrenching and life-changing experience. Then, when we were so fortunate to get pregnant with our second baby, our sweet daughter C, I waited until I was almost 8 months pregnant to share that news beyond our immediate family and friends. When she was born and was healthy, I was so incredibly relieved and grateful, considering all we had already gone through.

Other than an overnight stay under the lights to treat a mild case of jaundice at three days old, our baby girl was healthy and developing right on track, despite being born 3.5 weeks early. She met all of her early developmental milestones. By her first birthday, however, she wasn’t yet crawling (she did eventually start crawling around 13 months) and I also noticed that sometimes when she was lying down, her eyes would quickly vibrate back and forth (I’ve since learned this is called nystagmus). Her vision seemed normal and it didn’t seem to bother her at all so I wasn’t too concerned at that point.

At her 12 month check-up, I brought up the fact that she wasn’t yet crawling as well as the nystagmus and our practitioner recommend we start physical therapy and make an appointment with a pediatric eye doctor. It took several months to get everything set up but once C had her eyes examined it was determined that her vision was fine but the doctor recommended she get an MRI to see what might be causing the mild nystagmus…that coupled with the fact that she still wasn’t walking at 16 months was cause for further investigation. We then had to wait 6 weeks to get an MRI and were obviously very nervous but still thought everything would be fine.

Unfortunately, we received the devastating news that the MRI revealed she has abnormalities on her cerebellum and were advised to see a pediatric neurologist as soon as possible. To say we were shocked, confused, and scared would be an understatement. But even then, I kept telling myself that everything would be OK…it HAD to be OK…we had already gone through so much and had suffered our fair share of loss and devastation, there was no way this wouldn’t all turn out OK.

When we initially met with the pediatric neurologist he couldn’t tell us much without further testing so an array of bloodwork and genetic testing was ordered. Two weeks later we received some of the worst news parents could ever hear- our daughter has an extremely rare gene mutation leading to a mitochondrial complex 1 deficiency.

If you are like us, just reading that last phrase probably leaves you feeling confused and wondering what that actually means. Is it serious? Is it treatable? It is something that will limit the quality of her life? Essentially mitochondria are responsible for helping our cells convert food into the energy our bodies/organs need to properly function. When there is a breakdown in that process, it can lead to a wide range of physical symptoms and can cause cells to die or become ‘sick’ and not function properly. How an individual is impacted can vary from minimal to severe.

Our neurologist initially old us he suspected that our daughter’s clinical symptoms sounded like she could have something called Leigh’s Syndrome and that it was in fact very serious and likely life-limiting. When I looked this up, it was all bad news- as in she would likely not live to see adulthood, let alone live more than just a few more years, and her organs would potentially shut down one by one over time.

I don’t think I can adequately articulate in writing the absolute devastation we felt when receiving this news. Our entire world as we knew it was completely shattered and turned upside down. To have to call your loved ones and tell them this news is something I wouldn’t wish on anyone. All I wanted to do is curl up in a dark room and cry…but we had a sweet, happy little girl to look after and so life had to keep going despite this horrible news.

The next step was for us to meet with a doctor who specializes in mitochondrial disorders to confirm the diagnosis. There are only a few of these programs across the country and we opted to see a specialist at Boston Children’s Hospital since me and C would be spending the summer with my family in Maine and it would only be a two-hour drive to the hospital. Unfortunately, it was a rather difficult process for us to get an appointment because of insurance/approval issues and hospital ‘red tape’ but we were eventually seen.

This specialist told us that the type of mitochondrial complex 1 deficiency our daughter has is actually known at NUBPL disease (this refers to the specific gene mutation she has) and that she doesn’t have Leigh’s Syndrome as we were previously told. Overall, this is better news than what we were originally facing. She likely inherited one defective copy of the gene from each of us (there’s a 25% chance any of our children would inherit the two defective copies needed to have the disease, 75% chance they would only get one defective gene or neither and not have the disease).

NUBPL is an extremely rare form of mitochondrial disease (less than 30 people in the world are confirmed to have this mutation, although that could quickly change with advancements in genetic testing) and this gene mutation was only discovered in 2010. Because of this, there isn’t a lot of information known about how people with this disease fare long term or what the typical life expectancy may be. What does seem to be known is that in most cases, the area of the body that is most impacted is limited to the brain, particularly the cerebellum. It is considered a progressive neurological disease and there aren’t currently any cures or treatments available to slow or halt its progress, which is why research is so critical.

Currently, our sweet girl is incredibly happy, healthy, and VERY busy and energetic and doesn’t seem to have any cognitive or social/emotional delays or significant ailments. For all intents and purposes, she is a very typical toddler, other than her physical limitations. The changes in her cerebellum do significantly impact her balance and coordination and she cannot currently walk without assistance. She is very strong, can crawl, can stand while holding or leaning on something, can ‘cruise’ around by holding on to furniture, tries to climb up/on anything she can, and can walk by holding our hands or in a walker. She can be very wobbly and off balance and often tries to climb up on things or take steps without holding on so we have to make sure that someone is next to her at all times and that her play areas are safe and padded as much as possible to keep her from getting hurt. She doesn’t seem to understand her physical limitations and just ‘goes for it’…I’m very much hoping this attitude and willingness to move and explore will help her continue to make great strides.

We have connected with some other families who have children with NUBPL and they have been a great source of knowledge and encouragement. Many of those children have eventually been able to walk and we are very hopeful that in time and with lots of physical therapy, our girl will get there too. C will also start occupational therapy and speech therapy (speech and coordination can also be impacted by cerebellar dysfunction) and will take a ‘mito cocktail’ of vitamins and antioxidants, which is often prescribed to those with mitochondrial disorders. We are also in the process of getting her a gait trainer, which is a specially designed walker to allow her to have more freedom as she learns walk. She will likely need to have a check and be monitored once or twice a year by a team of ‘mito specialists’ to ensure that no other organs have been impacted.

To say the last few months have been completely emotionally overwhelming as we’ve been trying to navigate and process this diagnosis would be an understatement. I’ve experienced every range of emotions and have had some really soul-searching moments of just not understanding the ‘why’ and ‘how’ of it all.  Naturally, I also wondered if we lost our first baby because of this same gene mutation but the specialists have told us it’s not likely related. Apparently, in some ways, we just have very bad luck.

The future we had always pictured for our family and for our daughter is very unclear, which is a very scary feeling, but we are hopeful she will be with us for a long time. I’ve had to work really hard at trying to not to let the fear of the unknown ruin the present moments we have with our darling girl. Although I do let myself ‘feel all the feels’ when necessary, when I feel crippled by fear or sadness or anger, all I have to do is take one look at our happy, healthy girl and I’m brought back to the present- she is HAPPY and she is HEALTHY right now and that is all we can ask for. These sorts of life experiences have a way of making you feel extra grateful for the time we do have together, savoring all of the sweet and special moments all the more.

If you would like to read more about mitochondrial disease and NUBPL (our daughter’s specific condition) or you would like to donate to help fund much needed research to find a cure, here are some helpful resources:

United Mitochondrial Disease Foundation

NUBPL Foundation

Mitochondrial Disease Explained for Non-Scientists