2012 - 2015: Catching Up On Our Backstory

Well the last post was extremely long and it only covered one year! Let's make this post a little quicker and to the point, shall we? If we can, that is!

In 2012, Liam had another MRI done in addition to our going against the neurologist's advice and seeking help from a geneticist. The neurologist had a huge ego and didn't want to be proven wrong. It turns out he was right, but he should have wanted confirmation! When we saw the geneticist, she felt he had Ehlers-Danlos Syndrome, a connective tissue disorder, which shocked us. It wasn't even related to the ataxia. In any case, we started testing for the ataxia. That testing would last into 2014.

I should point out that from this moment on, we would change doctors over and over until we got the right matches and we're still not even to the right matches in some areas! So I won't bore you by going into every doctor switch, I'll just cover the basics. I may skip some tests we went through for brevity's sake.

That spring he had three ENT surgeries in one - adenoids out, tubes redone, and turbinates shaved. It was a rough recovery for him. His nose often bled and was very sore. We never really felt that it caused him easier breathing.

That year he also started Early Intervention services. I remember the first time Betsy, his speech therapist, came over. She sat down on the floor with him with a bag of Megabloks that had a zipper on it. Liam got excited and motioned for her to open it. "Open," she said calmly. He kept gesturing, but she would not open it unless he said "Open." When he couldn't, she played a few games with him. Over the next couple of weeks, she continued with the "open." One day he finally said it! That was the breakthrough. After that, the gates opened and he finally began to really talk! By the end of the year, he wasn't speaking in complete sentences yet, but he was saying many, many words.

In OT and PT, he wasn't doing as well. In OT, he made barely any strides, though his OT suggested he had sensory processing disorder and an evaluation by Childrens Specialized Hospital confirmed it. In PT, doing the activities was hard for him and he refused. I remember the activity he had the most trouble with was climbing and descending the stairs. Boy, was that hard for him!

That fall we met with the local public school to try to get him into their integrated preschool program. He went through a lot of testing and they decided he would benefit from it. After his third birthday, he would begin and receive OT, speech, and PT for free. Since Early Intervention ends at age 3, we had been worried about affording therapies after it ended so this was the answer to our prayers! And in fact his OT, speech therapist, and PT in school did a great job with him over the next two years.

In 2013, he started school. He took to it like a fish to water! At first he had trouble making friends, but within a few months, he had made a couple of friends that he'd chase on the playground. Despite this, he was diagnosed with mild autism (Aspergers) because of his lack of eye contact, obsessive compulsive behaviors, repetetive speech and behaviors, awkwardness socially and social anxiety (even though he had a couple of friends, he still had and has a lot of trouble with new people), stimming, and sensory issues and meltdowns, among other things including self-injury and injuring us. At the time, he spent hours lining up cars and turning their wheels. It would be much later (and the addition of medication) before he would start playing with other things and developing other interests.

Also in 2013, he started having "drop attacks" (dropping in place) which we felt might be seizures. Another in-patient EEG ruled that out, though we never found out what they were. In the same hospital stay, he had a spinal tap. They had us leave the room and we sat there in the lobby at the edge of our seats. But when the anesthiologist got us, he told us that Liam had LAUGHED during the entire procedure! That he sang "Wheels on the Bus" with the child life specialist and giggled throughout it. What a strong little guy!

Genetic testing continued. The episodic ataxia test came back negative. Every time something was ruled out, multiple thoughts went through our heads: Would we ever find a diagnosis? If it wasn't this, what if it was something truly awful? What if we were blowing through the time that he had with us and we didn't know it? What if there was a cure and we didn't find it in time? That year they did whole exome testing and we wouldn't get the results until the following year.

In 2014, Liam was diagnosed with ADHD, which was absolutely no surprise to us or his teachers since he met every criteria and Jon has it too. He was put on a mild medication and almost instantly he became a new person - NO, he became the Liam he was meant to be! He developed new interests, became more talkative and his language really took off, he paid more attention in school and at home, he actively played with his toys instead of lining them up, he stopped with the self-injury and injuring us. We made certain that the dosage was not too high - we didn't want him to become a zombie! It seemed like the Tenex was exactly what he needed.

Also that year, every diagnosis came at once.

One week we prayed that we would get a diagnosis for the ataxia by the end of the week. And do you know that on Friday at 6 pm, the genetics counselor called? She said that, oddly enough, the lab that had run the Episodic Ataxia test the year before decided to randomly re-run it. And this time they had found a mutation on the EA1 gene (he fit many symptoms for Episodic Ataxia type 1 in particular)! Now they had to rule out everything else with the whole exome testing. And so they did.

That May, we met with the new geneticist (the old one had left, though we loved her dearly). The whole exome had come back and revealed the following:

1. It was NOT mitrochondrial disease - a huge relief!
2. He had a mutation on the COL4A2 gene which can result in brain bleeds. Jon had found out the previous year that he had an AVM (arterio venus malformation) which can cause aneurysm and brain bleeds - for which he had undergone neurosurgery - and the testing showed that both Jon and Liam had the COL4A2 mutation. The geneticist decided it was time for another MRI to see how things were going.
3. His Episodic Ataxia mutation had come from ME.

I had been collapsing and having balance issues since I was 17 and nobody had an answer for why. Was this the answer? I have yet to find out.

We also saw the connective tissue disorder doctor at CHOP in Philadelphia and she confirmed that Liam has Ehlers-Danlos Syndrome hypermobility type. She also feels certain that I have it as well, which explains my loose joints and the fact that they have subluxed for years! She had us see a cardiologist and GI to see how those areas were going and both were fine.

So we learned a LOT that May. It was like a door had been opened: a door for understanding Liam (and ourselves) and getting proper treatment. That year he had another MRI, which came back clear.

Then in September 2014, he started making strange sounds while eating. Like a gulp-gulp-gulp and choking a lot. His GI pronounced that he had dysphagia, problems swallowing, but from what? She discussed to us the possibility of EOE so she wanted a swallow study and an endoscopy. The swallow study came back clear, so we were set for an endoscopy.

Then in November, he started having episodes of confusion and memory loss. Yet another EEG to rule out seizures! Again no answers. It would be a couple months later that I put two and two together after speaking with other EAers who said that they too have these episodes and it's related to their EA and not seizures.

Of course, as luck would have it, the EEG was scheduled in an emergency when the endoscopy was supposed to be! Then it was rescheduled in January 2015 and our car broke down and there was a bad ice storm! Eventually it was reschedule for March 22 and went off without a hitch, but I will tell you a quick story about that day! By the way, it wasn't EOE, the endoscopy was clear, and we've come to the conclusion that is ataxia-related. As many things are. If it's not EDS-related, it appears to be EA-related.

That year, we had bought Liam a wheelchair for walking long distances. However, on March 20 - the first day of spring - we decided to go for a short hike. Only about half an hour. The next day he begged for another hike - this time 2 miles, 2 hours! Then on the day of the endoscopy, he woke up from anesthesia and said in a groggy voice:

"I want to hike... I will help you up the mountain... I have strong legs now."

That day, we hiked 3 miles, 3 hours, and 300 foot vertical rise! Yes, right after anesthesia! And we have been hiking ever since! Despite ataxia, despite loose joints, he hikes. He just doesn't quite, he loves it. Since May 1 (when I started keeping track), we have hiked over 100 miles and over 17,000 feet in elevation gain! It has increased his confidence and I believe has increased his balance and coordination. Now we've begun rockhounding - collecting rocks and crystals. It adds to our time outdoors, enjoying nature as a family.

And this is where this blog starts off. From wheelchair to mountaintop, this is Liam's journey upwards with ataxia.