A TinySuperheroes story of love and kindness from a Super Mom’s perspective:
When Super Bella was born, she had a weak cry, clenched her hands a bit differently, and did not suck well. After a few hours, they discovered she had severe lactic acidosis, and they suspected a severe mitochondrial disorder. She was urgently transported to Children’s NICU where they were able to diagnose her after a few weeks with this extremely rare genetic disorder. The doctors sat us, her parents, down, and gave us the 18-month prognosis. There began her journey…
Bella’s rare condition is Pontocerebellar Hypoplasia Type 6 (PCH6). It is caused by a mutation in the RARS2 gene which provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase. So, Bella’s mitochondria do not do the job they are supposed to do to transfer the energy in our bodies. It causes a condition called Pontocerebellar Hypoplasia which is a neurodegenerative disorder which causes progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons), and therefore the development of the brain. Therefore, Bella’s development is severely impacted and over time, this causes lack of movement, loss of control of the body, frequent seizures, and difficulty eating and breathing. It’s a nasty condition.
Since Super Bella was born, she experienced seizures and dystonia, and before we could get them under control, she would jerk and shake sometimes for hours at a time.It was so scary to not be able to control them and to know if they would ever stop.
Bella is not able to sit or support herself at all. She cannot walk, does not have any voluntary movements, and has the development level of a newborn. She gets all of her nutrition with the use of her G-tube, and relies on 24/7 attention.But she somehow manages to smile through it all and motivate us all to live life to the fullest!
When Bella was almost a year old, she came down with a bacterial pneumonia, and we were very close to losing her. The doctors prepared us for the worst, as they thought she would not be able to come out of it. But she did!Since then, she has had two other pneumonias, but not as severe, and she recovered. The high fevers were very scary though. On a daily basis, we have some scare with Bella, but we have learned to handle the fear and just do what we can for her. Some days are worse than others, but for the most part, the seizures are under control, she’s off the oxygen unless she’s sick, and we have the care we need for her. It has been a learning process on how to handle the scares, but we just have faith!
Super Bella instantly draws people in and brings them together. She inspires everyone to be a better person and brings out a kindness and love in people. Bella is always positive and never complains, and she takes the bad with the good. Even when bad things happen, she stays calm and just has faith. Her smile and presence brings light to the room. She is sinless. She’s also a wonderful dancer and has some pretty neat moves 😉
People do recognize that Super Bella is Extraordinary in public. She has a really cool stroller that makes her stand out because it’s so special! People see her and look at her, but no one really tries to talk to her or to say hello. I think she would like it if people just talked to her more, even if they asked her why she has such a neat seat, that would be fine too. She likes to teach others about kids who have these special powers. One day in particular, Super Bella was wading in the pool with me one day, and this little girl came up and wanted to say hello and asked some questions about Bella. It was so nice of her to care and to make the effort to make Bella feel special.
Each day is a blessing for Super Bella, and she lives each day to the fullest. We do not know what is ahead for her. We are told her condition is degenerative, but when and how that will present itself we do not know. She was given an 18-month prognosis and as of this writing, she is 34 months old. She has already defied the odds and is definitely writing her own story. She never gives up. We just hope for as much time with her as possible and to make every day special for her. We believe she is an angel sent to us to make us better people.
Many kids with this disorder do not live past infancy. We do our best to inform and educate others about Mitochondrial disorders and PCH, and other life-limiting conditions. The kids with this disorder range in abilities-some can walk and function rather well, and others are at the other end of the spectrum, like Bella. They all bring such joy to our families, and they have changed us all for the better, I hope.