Life Lately

I have barely written here this year, and I miss this space. The truth is, I’ve had quite the vulnerability hangover for months now and every time I sit down to write something vulnerable here, I just chicken out. Perhaps that’s for the best though, at least right now. But, there is quite a bit going on, both mundane and meaningful, and I wanted to document it here, if only for my future memories.

  • THANK GOD IT’S FINALLY SPRING. Seriously, I have never been so aware of how the change of seasons affects my mood, and my children’s moods. With the warmer weather (but not a billion degrees yet), we have been outside constantly, and am loving it. Charlotte got a new bigger bike, and Nolan learned to pedal, so they are zipping around the cul-de-sac hours a day with our neighbor besties. friendsEasterbikeZac
  • I have been writing quite a bit over at Houston Moms Blog. Speaking of vulnerable, I wrote a piece a few months ago that got a lot of attention and inspired some really good conversation. It’s titled Why I Won’t Raise My Children in the Purity Culture That Raised Me. And, as I do, I have totally deep-dived into the topic since then and have already written part 2, 3, and 4 in my head (only half kidding). There are SO many layers to this issue and how it’s impacted my life. The good news is I’ve discovered I’m not alone- there is a whole community of people who are questioning the purity culture that raised them.
  • I have a new nephew! Baby Leo was born last week to my brother Peter and his beautiful wife Janice. He was born 8 weeks early, so has a long road in the hospital ahead, but he is doing as well as he can being so premature. They are in Australia and have never felt farther away. I can’t wait to hold this little guy when they come visit next fall.

Leo

  • Last weekend, I participated in my first political protest/rally: March For Our Lives Houston. I (a mother with small children) marched with my parents, my parents’ pastor, a 4 year old, a 16 year old high school student, and a good friend and her son who was the March coordinator for his high school. This little group represents the reach of this particular issue: people from all ages and stages of life are affected and want change.  The issue of gun control is really nuanced: we can debate all day long about the 2nd amendment and an individual person’s right to own guns, and which guns. Most of the people marching yesterday don’t want to take away that right- we just want laws in place to ensure that a person’s right to own a gun doesn’t supercede our children’s right to attend school without the threat of being murdered in their classrooms.I realized after the March that not only do gatherings like this give us an opportunity to exercise our 1st amendment right, but they also allow us to (literally and figuratively) bump up against people of all different walks of life. There were Christians, Muslims, and atheists, old and young, conservatives and liberals, students and teachers…all packed in tightly on the streets, yet walking peacefully. It was a really profound experience. Since one of my platforms has been getting people to think about what the term “Pro-Life” really means, I decided to make my sign with that in mind:
  • Me and Kylame and parents

 

  • I realized I never wrote here about our appointment with Grayson’s Mito doctor to discuss his genetic results. We already knew the basics from our visit with his first neurologist, but found out that he is only the 12th person in the world to be identified with the gene defect, and the only in the US so far. He will still be treated at the Leigh Syndrome clinic, and we can still identify him as having Leigh Syndrome, although it’s not classic Leigh. We had the little kids’ blood drawn last week to test to see if they are carriers, and we’ll get those results in about 6 weeks. They were rockstars for the blood draw (poop emoji band-aids and lollipops helped a lot). blood draw
  • Grayson gave us a real scare on Monday. I was pulling into work and got a call from his principal that he had just had a seizure and that they had called 911. Apparently during the seizure, somehow his airway had gotten completely blocked and he had no oxygen and turned blue. Both the school nurse and principal told me later that it was the worst/scariest seizure they had ever seen (not the seizure itself, but the blocked airway). Thank goodness, when they paramedics got to the school he was breathing again and checked out ok. We took him home and I held him most of the rest of the day. He has been fine the past two days, but I know everyone involved is still really shaken up. Grayson’s PT wrote an amazing guest post for Houston Moms Blog today about her job and included Grayson in her post. Heather

How’s your life lately?

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Letters to Nolan: Two and A Half

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Dear Nolan,

Happy half birthday to my silly, handsome guy! Today you are two and a half, but you have been “correcting” me all day saying you are five and a half. You want to do everything Charlotte does, so it’s no surprise you want to be her age too.

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Nolan, you are in a sweet spot right now. You are in one of my favorite stages- you are talking in paragraphs (no more guessing what you want!), can follow most directions, and are starting to do more “big kid” things. I no longer have to hover over you at the playground- you want to go “Higher! Higher!” on a regular swing. You are sleeping in a big boy bed, like to listen to picture book stories (not just board books anymore). And you are just so, so cute and funny right now. My favorite story from the past week is when I tousled your hair and said “Hi Little Guy” and you very indignantly said, ” I am NOT a little guy. I’m Nolan. I’M A MAN.”

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As independent and opinionated as you are becoming, you are still really sensitive. You love to be held, cuddled and reassured. Your daddy or I still rock and sing to you before bed. When something scares you, you let us know and want to be held tightly. You give the best hugs and high fives.

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As I said before,  you want to do everything Charlotte does. This both delights and annoys her.  You spend half your time carrying around princesses and wearing your sister’s pink shoes, and the other half playing with your trucks and turning sticks into weapons. You also love Grayson and lately, have been so sweet to him. You’ll hug and kiss him when he gets home from school, and one of the highlights of your day is “helping” him off the school bus.

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Nolan, you are such a sweet, busy, precious part of our family. I love you so much and am  already loving two and a half!

Love,

Mommy

Unexpected Answers

Today is Rare Disease Day- I should have done more to raise awareness, like change my FB profile picture or share facts about rare diseases all week. But, I didn’t, and my excuse is I’ve been slightly overwhelmed by the rare disease that we live with all 365 days of the year.

Ironically, this morning, on Rare Disease Day, we got some potentially huge news about Grayson and his disease.

Six years ago, in 2012, Grayson had a vial of blood drawn for a big genetic test. He was a year and a half old. At the time, we had no idea what Grayson “had” and all I wanted was for that test to give us answers. Tell me what to call it. Give me a name for the collection of symptoms my baby struggled with and a reason why he wasn’t meeting any milestones. It didn’t happen.

The results of that genetic test came back inconclusive. Grayson had some genetic variants (as do all of us) but none of them could specifically be labeled as disease causing. It was so disappointing at the time, but eventually we all but forgot about it. Grayson was clinically diagnosed with Mitochondrial Disease, and a few months later, after an MRI of his brain, with Leigh Syndrome. So we finally had a name.

At first, the diagnosis of Leigh Syndrome was horrifying- all I could focus on was the “terminal” label that comes with it. It took several years of processing and grief, but eventually I had peace, even comfortability, with the diagnosis. I made friends with other Leighs families, got involved in support groups, and formed excellent relationships with his doctors. And last year, 2017, Grayson had an amazing year. He went the entire year without a hospital admission except for a surgery he had in April. He was thriving in school, and making progress in therapy. We were coasting.

I’ve barely thought about genetics in several years. We had a diagnosis, Grayson was doing fantastic, so finding a genetic cause for his disease just wasn’t something I thought or really even cared about anymore.

A few weeks ago, all that changed. I had just dropped the little kids off at preschool and pulled out my phone. I had a text, email and voicemail from Grayson’s original neurologist that had ordered that genetic testing all those years ago. I hadn’t spoken to him since 2012 (we stopped seeing him when we started seeing the Mito specialist, who is a neurologist as well). The basic message was “New Findings on Gene Test- please call”.

I called his office and they immediately transferred me to talk to the doctor. If you are in the world of medically complex kids, this does not happen. You don’t just get put through directly to a doctor. But he had big news and wanted to be the one to tell me.

Basically, geneticists have reclassified one of Grayson’s gene variants. This variant was previously classified as benign, but has now been reclassified as disease-causing. So, this means that after 6 years, we finally have a genetic reason why Grayson is who he is.

This morning, we took Grayson to see the neurologist to go over the report and get a better understanding of what all this means. He used a lot of big words and it was hard to piece together some of what he was saying, but I think I have a basic understanding of the current findings. I googled the disease (Hypomyelinating Leukodystrophy Type 9) when I got home and the list of symptoms and the timeline when they show up is exactly what we’ve seen with Grayson. There are specific things like, “Spasticity, more apparent in the lower limbs” ,”nystagmus”, “onset in the first year of life”, and “thin corpus callosum”.

What I don’t know is what this means for what we call “it”. Does he still have Leigh Syndrome as well as this new diagnosis? I don’t know. We have an appointment with his Mito doctor next week so we will know more then. This will impact our other kids and their future reproductive decisions because there is a good chance they are carriers of this mutation. I also don’t know what this means for Grayson and possible treatments, or his life expectancy. I feel like this “answer” has now just flooded me with even more questions.

Regardless of what diagnostic label is on his medical chart, Grayson is still Grayson. Before anything else, he’s my son- my perfect 7 year old little boy who captures the heart of everyone he meets.