When I Learned to Trust My Instincts...

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 infection but she was so quiet about it.  Shouldn’t she be crying in pain?  Eventually, she would get up and start playing again so we dismissed it but something inside me felt uneasy.  

Thea laying with her head on the floor. 

Then, one day Thea was sitting and playing quietly when suddenly she fell backward and hit her head on the wood floor with a loud bang.  She began to cry and we held her and comforted her until she recovered.  Then we put her on the floor again and she began to play.  We resumed our conversation when suddenly she fell backwards and hit her head again.  My husband and I looked at each other in alarm.  What was going on?  I tried to calm both of us as I kissed her tears away.  It took her a long time to recover and play again.  Then, with a loud thunk, her head hit the floor again.  This time we rushed Thea to the ER.  I explained the strange behavior.  The doctor reassured me that kids fall all of the time.  Not wanting to appear difficult, I reminded him that Thea had been sitting when she had suddenly lost control and fallen backwards.  I’m a teacher and I understand that maybe kids would do weird things one or two times but three times seemed odd, especially when she got really upset and hurt each time.  Still he insisted that everything was fine.  He sees kids hitting their head all of the time and he knew how scary it could be for parents but it happens all of the time.  We nodded and took her home. 

The next day, Thea was acting so tired and listless that it was becoming more alarming.  I was sure that something was off and I wanted to talk to another doctor.  We took her back to the ER and the new doctor took us more seriously.  He did an MRI scan.  He showed us the scan and told us that everything appeared normal.  Feeling foolish, we again returned home.   

Over the next few months, Thea began to have more frequent periods of lethargy.  She would coast along the couch trying to walk when she would lose muscle control and sink to the floor.  She would drool a bit and not be able to move much.  We rushed her to the ER several times but by the time we got there, everything would return to normal.  They would send us home and we would feel embarrassed.  We would doubt what we saw.  Time would go by and we would think that we had imagined things out of fear or made them bigger in our mind. 

Then, one day Thea’s preschool teacher called us.  She said that Thea just didn’t seem right.  She appeared exhausted, was unable to move much, and was drooling.  At that point, we had doubted ourselves so much that we never told the preschool about her strange behaviors.  Once they saw it too, we felt more certain that something was going on. 

We took her to the hospital again and gave them the school’s report.  This time, they referred us to a neurologist and he began treating these episodes as seizures.  I was relieved.  Finally, an explanation.  I was sad that my child would have epilepsy but it I was glad that they could control it with medication.  Everything would be fine.  We would figure this out.   

We started the medication with relief but shortly after starting it, it turned our world upside down.  Thea became even more tired and now she was angry and tearful.  She refused to cooperate with the slightest requests and would hang on me all day and cry.  Her episodic lethargy seemed to increase, especially when she had a cold.  Every time I called to report an episode, the neurologist adjusted her medication but it never stopped the episodes from coming.  I was miserable and frustrated.  The doctor asked me to video the episodes and he kept trying to adjust the medication.  He said he wasn’t sure that this was seizures.  I was beginning to have that nagging feeling again that something wasn’t right.  I asked him if we could just stop the seizure meds but he said it would be dangerous if she was indeed having seizures.  Seizures could do permanent damage. 

Then one day, after an increased dose of her seizure medicine Thea had a bad episode of lethargy.  She could hardly open her eyes or move.  I called the neurologist on duty and he told me she was likely having another seizure and I needed to give her a big dose of the medication on top of the one I had just given her.  I argued that it seemed like the medication was making her worse.  He insisted that I give her a big dose now and again in 4 hours.  I gave her the big dose and she got worse.  I did not give her the next dose.  I hated not following the doctor’s advice but I just couldn’t make myself give her any more medicine.  I let the large dose wear off and I gave her a low dose.  She got better. 

I felt uneasy about the seizure medicine and unsure of what to do.  I told her regular neurologist what I had done and he agreed to go back to the lower dosage.  I fantasized about taking her off of the meds but I was afraid that she needed them. 

Months went by.  One morning Tyson and I woke up in surprise.  It was 8:00 in the morning.  We had slept in.  Thea usually woke us up between 5 and 6.  At first, we were happy to have had such great rest but gradually we began to worry.  I had hired a babysitter to entertain Thea for the day so I could get some work done around the house.  All Thea wanted to do after we had roused her was lay in the babysitter’s arms.  She wouldn’t eat and she wouldn’t drink.  I began to feel panicky.  I sent the babysitter home.  Tyson and I agreed to go to the ER but neither of us felt much hope that they would be able to help her.  I dreaded being told to increase her dose of seizure medicine and being sent home again.  Tyson decided to take a shower first.  As he was getting ready I began to feel a wave of dread and fear.  I wanted him to hurry and get out of the shower.  I wanted to call 911.  But I sat there taking slow deep breaths as I waited for him to finish his shower. 

Finally, we were ready, and we drove to the hospital.  Thea fell asleep in the car.  As the drive went on, I began to call her name and didn’t get a response.  Tyson began driving more quickly now looking at me with fear in his eyes.  He pulled up to the front of the children’s ER and I ran inside with Thea laying limply in my arms.  Immediately, nurses and doctors surrounded us and began taking steps to wake Thea up.  Her sugar was low- down to 40- so they gave her insulin and she opened her eyes.  Her symptoms were strange.  Her heart beat faster and faster and her CK levels were high.  They hooked her up to an EEG to monitor for seizures.  The neurologist on duty said that they needed to either up the dose of seizure medication or take her off seizure medication to see if she was having seizures.  She recommended increasing the dose but I asked her to take her off seizure medicine and she agreed. 

We spent eleven days in the hospital monitoring her brainwaves, her heart rate, and her sugar levels.  Despite her constant lethargy, she was not having any seizures.  We did genetic testing and came back with a diagnosis of tango2 mitochondrial disease.  It turned out she never had any seizures.  The episodes we saw were due to loss of energy from the disease.  When she stopped eating and drinking (it turned out that she had the flu) her body depleted her energy levels quickly and she went into metabolic crisis.  

Looking back, I am amazed at how much my instincts seemed to be telling me about my child and our situation.  I felt something was wrong before it presented itself.  I also never felt right about the seizure medicine even though it was the best logical solution at the time.  I remember that panicky feeling and the overwhelming dread the day that she almost died in my arms before the real danger was confirmed. 

I feel guilty that I did not act on those gut instincts sometimes.  I wonder if I could have prevented some of the things we went through if I would have trusted myself and been more insistent about more testing.  I was afraid to irritate the doctors.  I was afraid I was wrong.  I was afraid I would cause an inconvenience for everyone.  Now I know that sometimes I’ll have to ask for what I need even if the professionals are telling me with the best intentions that I don’t need it.  My child is counting on me to advocate for her as someone who knows her best.  I’ve learned a powerful lesson on trusting my gut and intuition.  Sometimes with rare diseases the knowledge is so limited that instinct and intuition is all we have.