The Diagnosis

Ok, I get it... there is a LOT of information on this page.  If you don't want the backstory, I understand... skip to the last paragraph. :)

2016

During this time, Lennon was a pretty healthy kiddo.  He was growing and developing like most infants. He was meeting his developmental milestones and we weren't worried... until the fall.  In October, Lennon got a viral infection. He had some "toxic waste diapers" as grandma says.  Again in December, we faced another viral infection that had him down and out for a few days. This time it seemed to linger.

2017

In January, Lennon faced another viral infection.  I was starting to worry that there was something more, but I think all mothers worry that there's more.  This time the illness really seemed to take its toll.  Instead of our normal, happy boy, this was the sad face of our kiddo.

In February, Lennon became severely dehydrated when he came down with another viral infection. (Are you starting to notice the pattern yet?)  We received outpatient IV treatments to rehydrate him and sent off a stool sample from his disastrous diapers although he was diagnosed with rotavirus.

Valentines Day our lives changed forever.  I woke up to feed Lennon around 2 am, as per the norm.  I noticed that he was smiling and happy, but his right arm was jerking up. To be honest, I thought he was playing at first, but after a few more seconds, I woke dad to ask what I should do.  While I was preparing to call the after hours doctor on call, he decided to take Lennon to the ER.  They waited for nearly 2 hours before a room opened. He had been jerking the whole time.  The doctors gave Addavan and struggled to set an IV. By this time the "twitch" had spread throughout his whole right side. He vomited, started to choke, and his whole body crumpled.  I'll never forget seeing my son looking like a limp rag doll in the arms of our family doctor.  The plane was on its way to send him to Wichita, but it felt like it was taking forever.

Dad flew to Wichita with Lennon while I made sure that my lesson plans were handled and that Grandma could get the kids to school.  I had to wait to be treated for camphylobacter, which is the bacterial infection that Lennon had shared with me. (His stool sample had come back the day before and I had missed the call.)  Once I took my prescription, I drove with the same fever and stomach pains that Lennon was being treated for in addition to his seizures.  By the time I arrived, the doctors at Wesley had already run a full battery of tests including CAT scan, blood samples, and a spinal tap. The MRI took place later that evening and EEGs were run repeatedly over the next few days.  Doctors struggled to identify the combination that would work to stop his seizures.

Although my memory is foggy, I believe he seized continuously for nearly 36 hours before they found the dose and combination of Phenobarbitol and Keppra to stop his seizures.  Even though the seizures stopped, Dr. Shah informed us that there may still be "silent seizures" and that we needed another EEG to confirm that the seizures had stopped.  It came back clear and after a week, we were on our way home.

Coming home was scary too. We had new normals, fears, and questions from friends and family.

In March, we celebrated Lennon's birthday.  We were grateful that he was still with us. It was a quiet day with chocolate cake.  We sat him on a tablecloth on the kitchen floor and let him destroy his piece of cake. He (and I) ended up wearing a lot of it. :)

In May, things got interesting again.  I think I've blocked out most of this trip to Wesley.  I know that I flew out with Lennon.  After daycare, I had gone with a friend to a Learn and Play session. After a few minutes, I could tell that Lennon wasn't feeling well, so I asked her to take us home. She agreed and we were on our way.  In the three blocks from the program to my house, Lennon vomited. His temperature skyrocketed and he began to twitch.  I dropped my stuff, changed his clothes, packed a bag and went to the ER.  Most of the procedures from our first visit remained the same.  The main differences this time were that the seizures manifested on the left side and MRI showed significant changes and damage to the occipital lobe.  At this visit we learned that his peripheral vision was likely going to be permanently damaged.

About two weeks later, we were playing with Lennon in the evening. He began to crawl in circles, but he would only move to the left. At first we giggled, but then we realized that something was wrong. He crawled into a bookshelf and kept crawling left. When we picked him up to check on him, his eyes were jerking sharply to the left.  Off to the ER we went.  This time, his twitch seemed to respond to Addavan, so they sent us home.  The next day, the last day of school, I took him for a follow-up with the doctor. Before we left the house, I noticed that he was completely clingy. Not the normal, I want to be held, but hysterically crying if I was out of arm's reach. I sat down to comfort him and noticed that he didn't look at me.  He couldn't see me... at all.  I waved my hand in front of his face, nothing.  I came within centimeters of his face, nothing.

Again, we flew to Wesley Childrens Hospital. This time we skipped the trial and error of medicine combinations and went straight to intubation and high-power anti-convulsants.  Versed did the trick within a few hours.  MRI, EEG, spial tap... lactic acid, stroke-like symptoms, genetic?, MELAS?, blindness...

It was a sad and scary trip home.

In June, we had follow-up appointments with our neurologist, a vision specialist, and our geneticist.  Adjust medications, add supplements, petition insurance for genetic testing to analyze whether or not it is MELAS, his optic nerves are damaged, legally blind...

It was another sad and scary trip home.

The Summer was filled with fun, family, and reunions.  Dad reunited with his biological family, we visited family and later friends, we snuggled, ate, and spent together enjoying our time.

 

 

The Fall, we received Lennon's genetic results, but they were inconclusive.  Now we needed to complete a variance analysis to determine whether his mutations were inherited or spontaneous.  In addition to it taking 10 - 12 weeks for results, we would have to wait for approval through insurance to see if our tests would be covered.  Luckily, we received approval relatively quickly and were able to give our samples in September.

October, we were carving pumpkins and trying on costumes the weekend before Halloween. Lennon was adorable in his dinosaur costume, though I might be biased.  For the first time in months, he spiked a fever and began to twitch.  Off to the ER we went.  This time he tested positive for parainfluenza, but it was a quick trip. We went in Saturday evening and were home by Monday night.

Thanksgiving... mmmm turkey... Lennon was a happy kiddo. :)

December, we received our news from the genetic tests about a week before Christams.  The good news, it wasn't MELAS and we had a name for it... the bad news, CARS2, and no... it's not fun like the movie,  When we met with Dr. Beltran, our geneticist, she explained to us that there is only medical literature for this specific gene mutation on 3 other children.  To make matters worse, Lennon doesn't present like any of these children.  At the appointment, we talked about inheritance, and how much we still didn't know.  On the ride home, we struggled to process our new information.  Also on the ride home, I searched Facebook for CARS2 and happened to find the profile of the mom of the first boy diagnosed with this gene mutation.  I immediately reached out.

2018

In January, I connected with Maria, Jacob's mom.  She listened to our story and offered insight to which therapies, medicines, and clinical trials might be available to Lennon.  You can learn more about her CARS2 journey at momentswithjacob.blogspot.com. She is a fantastic lady who still works to improve the lives of mito patients.

We also received our new Emergency Management Protocol to use with the local ER.  It really offers a pretty simple explanation of Lennon's diagnosis:

Lennon has a Mitochondrial Epileptic Encephalopathy, which puts him in high risk for seizures and stroke-like episodes. Lennon's condition is caused by a defect in the CARS2 gene, which impairs the function of the mitochondria. There are only 3 cases reported in the medical literature similar to Lennon's. Therefore the medical complications associated with this condition are still being researched. As of now, this mitochondrial disorder is known for causing severe seizures with a progressive movement disorder. This rare mitochondrial condition impairs the general production of energy. Therefore, illnesses, fever, or other stressors can trigger the signs/symptoms of the condition.  Seizures should be treated cautiously, as they may be a sign of an ongoing stroke-like episode.