More than a Paintbrush

Chloe proudly showing the paintbrush that she was given. The leaders let her keep it. And she is in love with it.

“How was your day?” a mom asks when her child climbs in the car after school.

“What did y’all do today?” Dad asks when he picks up his son from Sunday School.

“How was it?” a parent asks after practice or rehearsal.

These are the questions, answers, and conversations that many parents take for granted. They may grumble if their young son doesn’t give them the details they want to hear. But these are daily conversations between parent and child.

Unless your child is nonverbal. Many children have communication disorders that prevent this familiar conversation from happening. These families rely on teachers, siblings, aides, and friends to fill in the details and help with the conversation.

Chloe, my 16-year-old daughter, is mostly nonverbal. She uses some sign language, some verbalizations and gestures, and a communication device to communicate. But communication in general is very tricky and difficult for her. And questions like those above are met with a shrug. She’s never volunteered information from her day or from cheer practice or from church. The conversation and concept make for a complicated communication exchange. She’s learned to just shrug and shake her head. Hearing and understanding the question, thinking back over her school day and choosing something to talk about, forming those words, and then communicating it effectively… it’s a conversation tool she hasn’t mastered.

It might seem strange for a parent of a teenager to never know any details — even a general description— of ANY experience that teen has away from you. Thankfully there are willing people to at least answer general questions on her behalf.

But Chloe has never in her life told me about something she did while we were apart. Literally never. You just get used to it. Yes, you miss it. Sometimes you long for it. But it’s just part of it. It’s just your life.

Thats why it was a big deal this past week when Chloe used her communication device to say 2 words to me when I picked her up.

We were at family camp. After breakfast, the parents enjoyed a time of worship and teaching from 9 to noon while the youth had Bible story, music time, and art.

One day when we were reunited with Chloe after morning sessions, I heard her repeating something over and over on her communication device.

“Soft paintbrush… soft paintbrush… soft paintbrush…”

I acknowledged her words like I always do. I instinctively asked the helper who was with her for the week about the paintbrush, and she told me that, yes, the paintbrush was really soft… it was blue… it was really cool. And she said Chloe had enjoyed gently brushing her cheeks and lips with it.

It wasn’t until an hour or so later that I realized what had happened. This was a monumental moment! A moment to be remembered and celebrated! For the first time in her entire life, Chloe had told me about something she had experienced while she was away from me. She reported back to me. Something happened that had impacted her enough that she wanted to share it and talk about it. And she found the words and means to say it.

Mic drop. Unbelievable. Chills and tears.

What an amazing experience with my girl!

 

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The Song

As our departure date for family camp in Alabama drew near, we received weekly update emails from Hope Heals Camp detailing more information about what to expect.

Two or three weeks before camp, the email mentioned a talent show. I immediately knew Chloe would be interested in playing a song for the talent show.

Chloe and I have nearly daily “instrument parties” in her bedroom. Usually she plays cello, her main instrument, while I play ukulele. However, we sometimes switch it up and one of us plays keyboard, or she plays accordion or recorder or harmonica. She would literally play instruments 24/7 if she had her way.

It was highly impractical to take her cello to family camp: The camp was a 12 hour drive away from our home in Ft. Worth, Texas; the cello is quite expensive and fragile and our car would be quite packed with the necessities of camp; and we couldn’t leave the cello in the heat of the car when we stopped at restaurants or other stops.  For those reasons, Chloe decided she would instead play keyboard at the talent show (even though she would’ve much rather played cello).

She and I have a book of 365 songs for ukulele. The book has a great selection of a wide variety of songs. Chloe can read music but prefers to play by ear … and does so very well. I, on the other hand, cannot at all play by ear so I’m very dependent on the book for the songs that we play each day. I told her she could choose any song from the book for us to play at the talent show. Out of 365 songs, she decided we would play Edelweiss.  While I love Edelweiss and think it sounds beautiful when she plays it on her cello, I tried to talk her out of it.

“No one knows that song anymore.” I tried.

“Maybe we should play something upbeat instead…” I suggested.

But she wouldn’t be swayed. Edelweiss it would be.

Fast forward to the first night of Hope Heals Camp. All the campers, volunteers, and staff mingled around the camp fire singing camp songs. At the end of the night, Jay stood up and announced it was time for our Goodnight Song. He explained that it was tradition for everyone at camp to sing the Goodnight Song everynight before bed. It was a special song to Katherine and had become special to Hope Heals Camp. And then he led us in the Goodnight Song… to the tune of no other than… Edelweiss.

It was my first chill bumps and tears of the week. As Jay described it, it was a special God Wink that Chloe had chosen to play Edelweiss later that week.

I’m so glad Chloe didn’t listen to me as I tried to convince her to play a different song. She knows what’s up.

(Additional behind-the-scenes story: On the night of the talent show, I left the book of songs in our cabin and didn’t realize it until we were situated on stage ready to play. Total Mom fail! I leaned over to Chloe and explained that she was going to have to play without me because I didn’t have the book. I tried my darndest to play it by ear/ memory, but that’s completely out of my skill set. Our performance did NOT go as planned. Chloe did fine, but she was so shy and hesitant to play her song while I was destroying it on my end. Truly no one at Camp was the wiser because Chloe just reveled in the applause of all of her fans at the end. I apologized profusely for messing up her performance; she’s forgiven me completely.)

#HopeHealsCamp

#HopeHeals

Flooding Tears

I recently visited a local high school with a friend. Her son who has Down syndrome will be a student at this school next year. The transition to high school is a big one. She and her family have been working on this transition for years, fighting the status quo in our state, which is to keep kids with significant disabilities in special classes away from their non disabled peers.

Special classes for kids with disabilities are called self-contained classes. Self-contained as opposed to mingling about and switching teachers, classrooms, and subjects throughout the day. Typically these self-contained students stay in one classroom all day long and receive their instruction from one teacher with the help of several aides. Sometimes the students in these classes are allowed to go to elective classes or lunch with other kids. But for the most part, they are kept hidden away in private classrooms without any interaction with non disabled students.

My friend and I and several other friends of ours have been fighting against this status quo for years. We believe that our children should be educated right alongside peers who do not have disabilities. We believe that the positive peer pressure from being with these students and the friendships with these other students are life-giving and important. We believe that even if our children can’t demonstrate that they are learning everything the other students are learning, they deserve to be exposed to everything the other students are learning. The difference is literally as plain as our children still learning about the calendar and the weather and counting to 30 in high school instead of learning about the Periodic Table or the Cell Cycle. (Disclaimer: perhaps that is a simplified example, but it is true to what I have witnessed and heard about in Texas high schools)

So the other day while visiting this local high school, my friend and I stood talking in the entryway to the school, right outside of the front office. We stood in an active, busy thoroughfare of the main hallway of the school. We watched groups of students filing to lunch and to the library; then we watched students filing from lunch and on to class. The students, of course, came in waves as the passing periods came and went in the middle of the day. I love teenagers so I enjoyed watching them come and go, laughing or joking or cutting up as they went.

But then, surprisingly, when the hallway was quiet since it was not a main passing period, a group of about 8 or 10 students came parading by. A couple of them were holding hands with teachers and being led down the hall. It became clear that this was the special education class. The self-contained class. The kids with disabilities. The hall was empty except for these few students. They didn’t even pass paths with their typical peers during passing periods. They didn’t even see other kids on their way back from lunch. It was just them in the empty hallway.

My friend and I watched silently.

“Oh my gosh,” I finally whispered. It was as though I had been punched in the gut. I could not breathe as I watched them walk by.

And then the tears came. And they came hard.

Now, I am not a crier. I don’t cry. But here, in the entryway of this high school, I started crying. And I couldn’t stop. I think I mostly controlled my heaving breaths that were trying to escape my lungs as I tried to control my tears, but the tears certainly came.

It broke my heart. It made me angry. It made me sad.

And the emotions flooded.

This. This is why we fight. This is why we work so hard to get inclusion for our kids. This is why we help families. This is why we spread the word that inclusive education is important.

I was overwhelmed with the injustice of it all — the injustice that somehow these students were deemed unworthy to be learning with the other students. The realization that without loud, vocal, fighting mamas– this is exactly where our kids would be, separated from the rest of the world, parading down the hall with these students all the way to their private classroom, away from the other students and away from the rich learning taking place in those other classrooms.

And I realized that all the nights I complain about helping Chloe with her difficult homework from her 9th grade biology class or her Algebra I class, I should have been so thankful that she had the opportunity to learn biology and algebra instead of being ushered down the hall away from those subjects. All of those nights of hours of homework with her are worth it!

That hard World Geography semester review that had frustrated me the night before? I was suddenly so very thankful that Chloe and I were able to struggle through it. Because the alternative is no homework, no world geography, and no inclusion.

That parade of students showed me, reminded me, that everything we do and everything we’ve done has a purpose and it’s all worthwhile. All the fighting, all the work, all the rocking of the boat and questioning the norm has a purpose. We are fighting so that our children won’t be a part of that parade that passes by after all the other kids are in class. We are fighting so that our children can learn everything that the other kids are learning. We are fighting so that when a friend mentions their 3-D cell project or the Periodic Table, our children will know what the heck they’re talking about.

Yes, the tears came. And, yes, it was awkward and embarrassing. But the tears and the emotion were strong enough to remind me of the importance of our fight. The emotion reminded me why we speak up. And the emotion reminded me what we’re fighting for and what we’re fighting against.

I believe that my kids have the right to be educated right alongside the other kids. And I believe that ALL KIDS have the right to be educated right alongside the other kids.

I only wish I could help more students. I only wish I could convince more families to fight. I only wish I could stop that private and sad parade going down the hall while the rest of the world is off learning together.

Oh, how I want to change the world. Oh, how I want to change the status quo.

Happy Birthday!

As I recently explained, Chloe has become quite the party animal lately. Everything is a party. All day, everyday, party, party, party.

Another consistent thing in Chloe’s day is the birthday song. It pairs nicely with the whole party scene, don’t you think?

photo source: cliffordgarstang.com

Chloe has a couple of different apps on her ipad that play the birthday song. And the song has been on repeat for months. We sing happy birthday to all of her stuffed animals and all of her babies. We sing happy birthday to the cello, to the Christmas tree, and to the Walmart employee who brings our groceries out to the car. We sing happy birthday to singers who come on the radio, to our dog Flo, and to the sunshine.

There is a routine to the singing of the birthday song. Once the birthday object has been identified, Chloe plays the song on her ipad, we sing the birthday song, hug the lucky birthday object (if possible), and then we always tell him/her/it to have a fun party. It’s a very rigid birthday routine. The routine is greatly loved and very carefully carried out multiple times each day. If there happens to be something handy that can stand in as birthday candles, then we add blowing out the candles to the birthday song routine, too. Sometimes there are even gifts exchanged.

So fair warning, if you run into us somewhere, be prepared to be the birthday boy or girl! And guess what? You can play along with us and pretend it’s your birthday even if it really isn’t. And if you’re lucky, you might get some pretend candles to blow out and a birthday gift to enjoy for a couple of minutes. Don’t worry. Don’t get weirded out. Don’t feel awkward. Just let us celebrate you for a minute. You just might enjoy it. 🙂

Everything’s a Party!

Our girl has become a party girl. For the last six months or so, everything’s a party! Literally EVERYTHING’s a party.

In talking about her upcoming orchestra concert, it’s not a concert, it’s an instrument party. Her cheer practice is now a cheer party. Church is a worship party. School is a friend party. The Baylor football game is a football party. The halftime show is an instrument party. You get the idea.

One day when we were headed to the cemetery to take flowers to Papa’s grave, she named it a grave party and a flower party. While she sat there on his grave, she continued to proclaim it a party. A sweet memory, to be sure.

 

Literally everything is a party. Everyday, multiple times a day, there are parties left and right. You wouldn’t believe the parties you’ve been missing.

While her brothers at times find the multitudes of parties slightly annoying, the truth is, we can yet again learn something from our girl. Just think of the joy we would experience if we approached everything as a party! If we shared Chloe’s outlook and viewed everything as a party, we just might find ourselves enjoying even the mundane tasks in life.

Why do the laundry when you can instead go to a laundry party or a folding party? Don’t think of it as rush hour traffic; instead, call it a car party! Dreading fixing dinner? How about an ingredients party or a cooking party instead?

It’s not hard to catch on to the whole party scene. In no time at all, we, like Chloe, could become total party animals! And we just might find ourselves smiling with each step throughout the day.

Got any parties on your agenda this week? No? Hmmmmmm.

Well, pardon me for now while I head off to Walmart for a grocery party! 🙂

New Answers

Here’s the scoop in a nutshell: Chloe, who has never had a true diagnosis, finally has a diagnosis! It seems that she has a mutation in gene EBF3 which caused a genetic syndrome that involves developmental delay and other characteristics. It’s a brand new find in the world of genetics so there’s not much to know other than that. If you want the whole story in a long blog post, keep reading…and sorry for the spoiler. 😉 And, now, for the rest of the story:

 

IMG_3511Earlier this month, we got a very interesting phone call from Chloe’s geneticist.  It seems it was possibly the most interesting news from her in …about 15 years. 

Remember that Chloe remains undiagnosed. Early on, neurologists and geneticists could not agree if her issues were genetic or neurological. Finally everyone agreed that it was genetic, but still there was no diagnosis. Chloe continued to see her geneticist each year, and if there were any new tests that had been developed over the last 12 months, then she was sent for those tests. But each test came back normal or inconclusive. Eventually, her doctors started calling it Chloe Syndrome since there were no answers.

Several years ago, Chloe did a whole genome sequencing and microarray study when it was first developed. It was a very smart, very high tech, very exciting genetic test that held a lot of hope for answers. It was a way to look at the very ends of genes and chromosomes to see if there were any smaller deletions or mutations. It was very expensive and wasn’t often covered by insurance. Chloe’s doctors jumped through many hoops to get the genome sequencing set up. The sequencing included extensive studies of Chloe’s blood samples and Paul’s and my blood. And the results took months to come back. But, again, in the end, these reports showed no answers and no diagnosis. 

A side note here in case you don’t know about the world of genes… through the years, syndromes and diseases have been identified, and many of them can be seen in gene studies. When a doctor tests to see if a person has a specific syndrome, the lab can be pinpointed to look at that specific gene to look for a mutation or a deletion. Likewise, if a mutation is found in a particular gene, it will sometimes lead to a diagnosis if that gene is associated with a certain syndrome. However, sometimes, a mutation can be seen in a gene, but it doesn’t lead to diagnosis because that gene hasn’t been associated with any syndrome and/or that gene hasn’t been connected to any disease or dysfunction. So, while Chloe’s gene sequencing showed a few abnormalities, the abnormalities were not of note because those genes had not been identified as being pathogenic (disease-causing). 

Fast forward to our phone call. Chloe’s geneticist had just received in the mail a letter from Baylor Medicine saying they had revisited Chloe’s sequencing because of a couple of very new studies and discoveries, and they thought maybe they had found the gene responsible for Chloe’s issues. 

Wow. We (and her doctor) were shocked. It was honestly never expected to ever find the cause of Chloe’s medical issues. It was hoped, yes. But even at our recent appointment at the genetics clinic, the doctor again explained that we likely would never have any answers. 

The letter pointed to one of Chloe’s genetic mutations and mentioned some recent studies that had finally linked this particular gene with some similarities in a very small group of patients. After some research, we definitely agree that this newfound information sheds light on Chloe’s issues. The similarities in the patients identified very closely resembles Chloe’s health history; thus, we have found the cause of Chloe’s genetic syndrome.

Sooooooo… the culprit mentioned in the letter…. the culprit that is the root of all of Chloe’s issues is a slight mutation in Chloe’s EBF3 gene. Never heard of it? Well, that’s because until very recently, EBF3 was not linked to any change of function or cause of disease so it has not been talked about. Until now.

Again, while the variance in EBF3 showed up when they first ran her genome sequencing a few years ago, at that time it was inconsequential because that gene had not been recognized to have any pathogenic effect. However, now they have found some clinical similarities associated with that gene. 

There are a small handful of articles that have been published in the last year discussing several studies surrounding EBF3 and a small number of patients who have a mutation. In fact, one of the studies from October 2016 includes 10 patients…”subjects,” if you will. And while I was reading the study, I was surprised to realize that Chloe was actually Subject 8 in that study! The subjects are never named, but there were several tell-tale details that made it clear that it was Chloe. Pretty cool that our girl was involved in one of the very first studies of patients involving this particular gene! (The unanswered question is why didn’t they notify the families a year ago that they were making some advances with a diagnosis….)

Through these research studies, the researchers determine clinical similarities between subjects who have the mutation. And with these similarities, they form a list of characteristics that most people with a mutation in gene EBF3 exhibit.

According to the research studies, it seems that patients with EBF3 variance have the following issues:

  • Low/weak muscle tone (Hypotonia)
  • Developmental delay
  • Balance/gait issues (Ataxia)
  • Expressive language issues
  • Urinary tract issues/ namely vesicoureteral reflux
  • Strabismus (eye muscle issues)
  • Weak facial muscles (inability to smile)
  • Autism-like symptoms
  • Repetitive muscle movements 

Shall I go on??? 

Amazing, right? It’s an exact list of Chloe’s issues. There is literally nothing mentioned in the studies that doesn’t ring true with Chloe! She has additional medical issues that are not on their list. But the truth is, some of those will likely be added to the list as doctors and scientists perform more studies with a larger group of patients. 

So there you have it. EBF3. 

It looks like currently there are maybe 30 people identified as having a developmental disability because of a mutation in EBF3. And it has been tagged with the name HADDS: Hypotonia Ataxia Developmental Delay Syndrome. The oldest person that I’ve read about is 25, and then Chloe is maybe the next oldest. Of course, this will continue to change as more individuals are identified. The patients have varying degrees of the characteristics. Some walk; some don’t. Some talk; some don’t. At first glance, it appears that Chloe has a more severe mutation than some, but, again, that may change as more is discovered about this population. 

So we have an answer. After nearly 16 years we have an answer.

But literally nothing changes. Chloe’s still the same Chloe. There’s no cure for her syndrome. There’s no new treatment to start. We simply know the gene responsible. And we know that it was a spontaneous mutation — not passed from either parent; sometimes mutations just happen.

But just like that, our family became part of an exclusive “club” that before now had declined our membership. The club of diagnosis. The club of EBF3 mutation. The club of HADDS. Of course, the families in our particular club are at this point still scattered about wondering what to do with the new information. I started a blog specifically to find and unite families who search the web for EBF3. I plan to post on it fairly regularly to keep Google in the loop for anytime someone searches EBF3. I found a Facebook page for families of EBF3. There are only 3 or 4 people in the group — this is still very new, and we are a very small population. But it was exciting to exchange greetings and photos with those families. Who knows? Maybe we will plan some sort of HADDS convention or something and hang with those families just because we can.

And that’s all we have. Thoughts??

Articles if you want to know more:

Brave…Yes.

Two weeks post op, following a very invasive, major reconstruction surgery of Chloe’s little, skinny, stuck knees and hips, I have to say that I think her choice of theme song is absolutely appropriate and fitting.

I know she still has a long, difficult road ahead of her, but I’m so proud of her strength and determination. And, literally, all but about 4 minutes of the last 2 weeks, she has been steadfast and fearless. For about 4 short minutes, she was tempted to give in to the fear, exhaustion, and desperation…but, as usual, she quickly pulled it together right before my eyes and forced the fear and tired-ness away. She’s amazing, if I do say so myself.

So in recognition of 2 weeks post op, here again is the song she has chosen to be her anthem this summer as she fights to stand and walk. Enjoy and be encouraged and challenged. 🙂

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