MOM TO A MEDICAL MYSTERY

I am a first-time mom, a stay-at-home mom for the foreseeable future. My daughter was born a year and a half ago, her name is Scarlett Raye. She is truly a ray of sunshine in my life and to anyone who meets her.

Scarlett was born with an undiagnosed condition.

Or at least we think she was born with it... 

On the day Scarlett was born her observations were good and she was healthy. Although our birth plan was to go for a natural birth we ended up with an emergency cesarean due to a placental abruption. This means that before labor starts, the placenta detaches from the uterus, which causes oxygen deprivation to the placenta. Many things can and usually do go wrong when a woman tries to deliver a placental abruption naturally. For us, a cesarean was the right choice, and in my opinion, our doctors saved my and Scarlett's’ lives that day.

We had a hard and exciting first few weeks with our beautiful baby. Trying to learn the ropes as first-time parents, going about our lives heavily sleep deprived.

When Scarlett was a few months old the first real sign that something was not normal showed up. They came in the form of -what we then thought-seizures. I came to her crib one day-she had just woken-and the cry I heard on the monitor was not like anything I had heard her make before.  So, let’s be honest I was running when I reached the crib. What I found shocked me, my little darling perfect bundle was convulsing, she was not her normal self, screaming and her little body although it was shaking, was so stiff. I am not sure how long it lasted that time, but it felt like forever. Afterwards, I did observations on her, she was alert, comforted and calm. Her breathing and heart rate were back to normal. There was no indication that anything abnormal had happened.

This did not happen often, but the time between the ‘episodes’ got closer. We asked around but because the ‘episodes’ were so random, it was difficult to adequately describe the symptoms, to the point of any diagnosis. Each time it affected a slightly different part of her body it would last for different periods of time. We went away with family, someone finally saw one of Scarlett’s ‘episodes’. They said it seemed familiar to them and told us that it was the burbs getting badly stuck. They advised us to put Scarlett over our shoulders into a classic burping position and massage her from lower back up to shoulder height and repeat until she burped.  It didn’t stop her ‘episodes’, so the investigation continued. Scarlett also displayed irregular muscle movements that to me did not look normal, particularly in her hands.

As first-time parents, it is hard to know who to listen to and whose advice to take with a pinch of salt. We went back to the pediatrician, little did we know this was the beginning of a long journey. Scarlett was examined and determined to have no physical or discernable mental issues, it was suggested that we consult with a pediatrician closer to the neurological field.

Dr no2 did a full examination of Scarlett’s physical and mental capabilities. Dr no2 noticed that her fine and gross motor skills were delayed for her age group, but that her physical growth like brain growth etc. was normal. Blood work and a 20-minute EEG were ordered, and both came back clear. Dr no2 advised us to consult a physical therapist, which we did. Scarlett has been seeing her weekly since then. We were advised to consult a neurological specialist to investigate further.

So, Dr no3 after a thorough examination and discussion about Scarlett’s symptoms and history, ordered more blood work to be done, a 24hr EEG, an MRI, and metabolic and genetic testing. The initial examination determined that the irregular muscle movements she displayed were dystonia.

We finally had something to go on.

Dr no3 advised us that dystonia is a symptom and the underlying cause still had to be diagnosed but that a full diagnosis may never come- meaning that we may have to treat Scarlett symptomatically for the foreseeable future. 

Some tests were done immediately, some we waited months for space in the hospital, and unfortunately others we had to save money for. 

It is now almost a year since we first sought help and we still have no diagnosis. We are currently waiting on the last of the test results that I mentioned earlier. All the other test results have come back inconclusive. 

We know that her milestones, though they are delayed, are at least happening in the correct sequence, which we have been told is a good sign. The physio has helped tremendously and fortunately, I have a strong background in movement and anatomy so I can incorporate Scarlett’s physio into our daily routine. 

The ins and outs have yet to be discovered. It has been a long and stressful journey, to say the least. And it’s not over yet. 

Worrying about it constantly is the hardest part. 

This is what we are doing to ensure that she can live her best life, regardless of diagnosis:

Keeping accurate records of every doctor she has seen and their reports.

Focusing on the best nutrition and supplements.

Ensuring that her day includes as much physio-based activity as possible. 

Constantly introducing new activities and play to stimulate her mental and physical growth. 

The most difficult thing for me to do, being a planner, is to balance planning for her yet unknown future but staying in the present. Each moment with our girl is a blessing. Finding the balance to accomplish this is just what moms have to do. 

I guess all moms feel the pressure of trying to find the balance. The more we support each other by getting our stories out there the better, in my opinion. 

Till next time, stay balanced!