Gabe is 17

 17. Wow, I blinked. Gabe’s been doing pretty well lately. After gaining a better understanding of his anxiety, along with treating some attention issues, he’s in a pretty good spot. He can still get a little stuck and throw some hard fits every once in a while, but he’s doing better at working through them more quickly and having better self control. We’re trying to work on new motivators. He’s finally passed the imaginative play phase and finding new hobbies.  He still loves to play all forms of Bingo and is getting pretty good at Uno. He’s recently picked up Dominos. He loves asking me what’s for dinner multiple times a day, thinking my answer will change. He also asks me what every word means in Spanish. He still loves dogs, cats, and babies more than anything. He still loves to watch baseball. He’s obsessed with going bowling. He loves going for a drive to look at the city from Devou Park and see the bridges. He asks to eat cheeseburgers and donuts for treats whenever he can. He needs to work on his table manners because, like most teenage boys, he knows how to make himself burp. He loves Taylor Swift. He wears his headphones and sings at the top of his lungs. You can’t stutter while you sing, so it’s pretty good speech practice if your ears can take it. He’s pretty amazing.  continuing to work on independent skills.  We are currently focusing on zippers and fasteners, not just when they are in front of him, but when he is wearing them. Also, pouring milk from the milk jug into his cup. And, bed time  routine independently. He’s doing pretty well with that one, but getting the soap out of the pump in the shower can be tricky.  He’s walking longer distances and can do a wall sit and squat better than anyone I know at the gym. He’s typing pretty well and can write out some really good ideas. He started doing some job training work at The Point. It’s early, but he can totally do the sorting activities they ask him to do when he wants to. Finding that motivation has always been the key with Gabe. He’s getting there though. 

Here’s a writing excerpt Gabe wrote about bowling this past spring.  This is 17.

An update on my teen

 Last I posted, it was spring time.  We had been noticing some different things going on with Gabe.  I thought it would be good to give an update.  I talk pretty openly and honestly about Gabe for a couple of reasons.  I believe knowledge is power.  I believe people are naturally curious.  I believe Gabe has a lot to teach people.  He says it’s okay if I share about him, so here’s my best recap. 

Gabe was having “stuck” episodes that we noticed last winter.  It was like he couldn’t get moving.  There were also times when he would physically be shaking and scared.  We have also noticed speech fluency decline over the year.  Executive function hadn’t taken over at all.  We felt a little lost.  After talking it out with his physician in the Downy syndrome clinic, we were referred to multiple specialists for a deeper dive.  After lots of blood work, brain MRI, EEG, consultations with neuropsychiatry, neurogenetics, and neuroimmunology, here is what we know.  Gabe has some anxiety.  We saw symptoms way back in 2020, but he wasn’t on the best medication fit for his teenage body.  We adjusted some things, and his anxiety is now under much better control.  No more stuck spells.  No more shaking.  Anxiety is more common, or at least more talked about these days.  It is also more common in Down Syndrome.  The Down syndrome clinic actually sent out the following research update earlier this month.  It describes Gabe pretty spot on: 

Individuals with Down syndrome face challenges with executive functioning and are more likely to experience anxiety. Executive functioning (EF) is a group of mental skills that help us achieve goals and process information. It includes initiation (starting tasks), shifting (switching between tasks), working memory (temporarily remembering and working with information), emotional regulation (managing emotions), and inhibition (controlling impulses). Key Takeaway: If a young person with Down syndrome is having a hard time with EF skills, screening for anxiety may be helpful. Early intervention in both areas is important. Challenges with EF may look like hesitation or avoidance when starting or switching tasks. This challenge may be misinterpreted as a refusal behavior, and interventions won’t target the underlying issue: anxiety. Interventions focused on anxiety can improve academic and social success. In addition, proactive strategies to reduce EF challenges may lessen anxiety. 

So, Gabe does not have DS regression or catatonia.  He does have some DS dysregulation and anxiety.  DS has pieces of neurodivergence mixed in. While Gabe does not have ASD, OCD, or ADHD by diagnoses, the DS reach does include certain components from these buckets –more so the attention piece for Gabe specifically.  As Gabe’s anxiety improves, he wants to be more social.  This has resulted in some silly/class clown/attention seeking teenage behavior we are working through.  He wants to interact but doesn’t always have the communication skills to do so, so being silly and attention seeking is his default.  Yes, that is common for teenagers, but sometimes it disregulates him.  Medication and behavior strategies are helping.  There are amazing days and some hard days.  We are still fine tuning some things and teaching Gabe what social norms are positive and what things get him in trouble as he looks to be more engaged with others and keep his cool. 

Down syndrome is often considered a syndrome of autoimmunity and inflammation.  Kids with DS are at risk for thyroid disease, celiac disease, various skin conditions, Type 1 diabetes, and even leukemia – all conditions where the body turns on itself.  Of these, Gabe has psoriasis and alopecia only.  There are some very early trials with medication, commonly used to treat inflammatory and autoimmune conditions, to help connect neurologic wiring and improve EF.  Science is not there yet.  All this is emerging.  Considering the recent statement about anxiety and EF and current investigations on inflammatory responses and EF, there is a lot of discovery potential.  Through all of this, I have learned the importance of research.  There is so much to still discover about DS.  I would never change Gabe – Down syndrome and all, but man I wish I could make things easier for him, the medical stuff and the brain connection stuff, because it’s all there.  I see pieces of it in him just needing to emerge all together. There are many times when it does, and it’s awesome, and he’s so proud of himself. We’ll continue to take one day at a time, and today was a good day.

 

Anxiety, keep on trying me

 Gabe started stuttering with language in 2019. We took him to a speech therapist who specialized in stuttering and she was able to mimic his stutter even. We worked on some strategies to help him smooth out his language. Then Covid hit and it didn’t really take. The thought was always that Gabe began stuttering because his thoughts got more complex and he almost used it as a tool to motor plan out his words because he wanted to tell us full stories, not just little sentences as he did in the past. It made sense to us. In 2021, he also started showing signs of anxiety. It was a Covid world of NTI on and off learning along with moving houses and school districts. It was a lot. We took him to see a psychologist and we noticed that with just a tiny bit of medication help, he was much calmer.

Fast forward to this year, and Gabe started showing more anxiety signs. This time he would actually hold his stomach and physically shake. There were also odd moments where it seemed like he was frozen and not able to move. It was more than just refusal and a hard “no” that he’s given us in the past around transitions. It was almost like he couldn’t wake up or couldn’t hear us. Once we finally broke through the freeze, he would move along with the transition no problem. It was very odd . We also kept thinking about his speech more and more. We looked back on videos, hearing him talk and it’s a bit devastating. We talked to his doctor at the down syndrome clinic.  She brought up a potential co-diagnosis of apraxia or autism. The tricky part is though, Gabe had all the skills and then regressed. It wasn’t like he just never developed them. She referred us to Neuro psychiatry to investigate a little further. At the neuropsychiatry appointment, they brought up catatonia, or down syndrome regression disorder. I’ve been reading a lot about that over the past month. The word catatonia generally has a stigma that’s a bit frightening, but it’s really a medical umbrella term for frozen movement, or withdrawn. Down syndrome regression is just picking up in awareness and research these days. They actually think it’s much more common than we realize since symptoms are often masked and blamed as delay or speech difficulty. Either way, it was worth delving into. Lab work and EEG all were normal, not showing any signs of seizures, inflammation, hormone, or metabolic issues that could be causing the catatonia or regression. Gabe is currently getting a brain MRI as I type this from the waiting room to make sure everything looks clear. It’s almost a matter of ruling other things out to see what’s left. Not sure if he really has catatonia or regression, but the symptoms warranted a work up.

As we investigate the catatonia further, we definitely acknowledge that there was an anxiety component as well. We’re working with different medication management and Gabe‘s anxiety has definitely improved. No more spells of getting stuck. No more episodes of shaking and holding his stomach. He’s also talking a bit more. For example, I used to say “good morning Gabe” in the morning and he would say “hey”. Now he says “good morning mom”. It’s not perfect, but definitely more language. He’s also following steps a bit better. He’s getting ready more independently at night. All things in the right direction and kind of back to the baseline. Maybe all of this really is just significant anxiety. Also, Gabe‘s been through some trauma in his life with all his medical needs. He’s experienced some heavy things that most kids don’t. Maybe some of that triggered it as well. Who knows, but it’s comforting to know that we’re tapped into the right specialist and experts to figure him out. There’s moments where he’s so clear and things are so thoughtful with him. You just want him to emerge so everyone sees it.

Special thanks to all his teachers, respite workers, and friends. Especially friends who stay patient with him and see his potential and thoughtfulness whether he’s speaking or not. 

We’ll figure it out. The brain, and that extra 21st chromosome are truly fascinating. Never give up on Gabe. 

Ps:  his spine and ankles are looking great and he’s getting stronger with exercises every day.

Heel cord release

 Gabe has always had narrow ankles with poor tone in the ligaments and muscles that help stabilize his ankle joints.  Poor tone and floppy ligaments are Down syndrome related.  Orthotics have helped to correct this some. About a year and a half ago, Gabe’s pronation got worse. He began lifting the outer part of his foot off the ground and walking on the inner part of his foot because of the tightness in his calf pulling on his Achilles tendon. The arches of his feet began callousing from walking on them. His orthotics began to crack from the pressure. We went through PT and worked on foot alignment when walking. We’ve done daily calf stretching. It’s not helping a ton. Gabe often says his feet hurt and it looks painful to see him walk. We wanted to wait a year post spinal surgery to have his back heal completely before trying other options. After meeting with an orthopedic ankle specialist, we came up with a surgical plan. He is currently in the OR undergoing bilateral gastrocnemius, strayer lengthening, and possible Achilles lengthening procedures.  Basically they will be making an incision in his calf muscles to lengthen his calf so it doesn’t pull on his ankle. They may have to lengthen his Achilles tendons as well. He will be in walkable casts for 6 weeks afterwards. He will then wear knee high orthotics for about 6 months and start up PT again. The hope being he will have an arch to his foot, be able to push off his toes when he walks instead of stomping along, and be more comfortable on his feet.  Surgery will last 3 hours. We’ve been through hard before. While this isn’t simple or easy, it is much less intensive and fragile compared to heart or spine surgery.  

Never give up on Gabe. 💙💛

Update and another surgery

 Gabe turned 15 last week.  Here is an update on our special teenager.  

Gabe had a really positive 7th grade year.  He graduated to the high school building and was moved to a resource room with older kids.  The maturity and life skill focus in the classroom was really good for him.  He has healed really well from his spinal surgery last year.  His spine curvature is now 10 degrees which they are happy with.  He continues to do a great job wearing his cpap to keep his sleep apnea under control.  He has some conductive hearing loss in his right ear that we are watching closely.  He can hear all language, but very high-pitched noises are diminished.  It's not to the point of hearing aids being necessary yet, but the conversation of this being in our future has happened.  He's done really well with PT this year.  He likes walking on the treadmill.  We are on a waiting list to get back into OT, but have been working on those skills with him at home - chores such as putting silverware away, making his bed, folding some laundry; handwriting; sorting; hand strengthening and coordination, etc.  Speech has been a challenge.  Gabe talks to us, but his stuttering to get out the big story in his head he wants to tell is still really significant.  He's much quieter in public.  It's hard to pick apart if it is shyness, anxiety, or just an understanding that speech is a challenge and being quiet comes easier.  He had a speech eval at the beginning of the summer.  It didn't tell us anything we didn't already know, but it does make it easier to set concrete goals around.  We are waiting to get back into speech therapy during an appointment time block that won't be too disruptive to his school schedule.  Gabe has done some new things this year.  He participated in adaptive bowling with his school.  He tried bocce ball with the Special Olympics.  He went to teen camp at the Down syndrome association, and he went to bike camp.  Bike camp was hard for him.  He hates feeling wobblily.  He got on the bike every day but required assistance pushing along and tired out quickly.  He held on with a death grip.  He didn't make a ton of progress, but we were able to go home with the bike hooked up to a stabilizer that converted it to a stationary bike.  He's been practicing on it while he watches TV.  It's a bit more stable, but still gets him use to the bike and working on the muscle memory of peddling and core strength.  He's done really well with it.  We've been on vacation to Florida and Michigan this year.  Gabe does great with traveling and surprises us in trying new things.  In Florida, he tried tennis a bit.  In Michigan, he went up the sleeping bear dune climb.  He shows us that we just need to keep offering him new opportunities.  Sometimes his anxiety and shyness get the best of him, but every once in a while, he surprises us, and we see all that he wants to do.  Gabe loves baseball, dogs, babies, Toy Story (still), Elmo and all Muppets, Dave and Busters, playing with his doctor kit, air hockey, and shooting basketball - as long as he has you to rebound for him.  He is still not a fan of heavy demands, feeling rushed, fire alarms, and being over stimulated.  He can be very gentle and very stubborn at the same time.  He's a teenager, but he understands things deeply and is quick to forgive.  He's a great kid.  

Gabe has hypotonia (poor tone) which is a pretty universal feature in the Down syndrome profile.  There are different levels of significance of course.  Gabe has very significant hypotonia.  His ankles have pronated out and his ligaments in his ankles have been hyperflexible his whole life.  He's worn ankle orthotics since he could stand.  He started walking with his toes pointing outward early on.  I took him to Orthopedics clinic when he was around the age of 8 to get their opinion.  They said that his orthotics were working well and unless he starts lifting up the outer part of his foot, there is no concern.  About 2 years ago, we noticed this beginning to happen.  We tried a more rigid orthotic.  We started seeing Orthopedics again more regularly.  We began specific PT work to focus on his ankles.  For the past year and a half, we have done nightly stretches with Gabe to help with his calf tightness.  Basically, Gabe's calf muscles are very rigid, but his ankles are very loose.  If he didn't have the hypotonia, he'd have very flat feet and be a toe walker.  Because of the hypotonia in his ankles, he severely pronates them.  It's significant enough that he has some callousing on the arch of his foot.  He complains that his "feet hurt" and his "feet are getting tired".  We wanted to get through complete spinal surgery recovery and see how the corrected scoliosis affected things.  Last week we saw an ankle surgeon who explained the options.  The first option is stretching and PT which we've already exhausted with little benefit.  The other two options are surgical.  The first is cord lengthening.  That is when they make an incision in the calf and potentially achillis to lower the heel down and give more opportunity for the orthotic to work and move the foot into alignment.  The second option is when they do the cord lengthening, but also do some bone grafting around his ankle joint.  This would be a bit more invasive and require two surgeries with a much longer and intense recovery time which includes 6 weeks of non-weight baring per surgery.  It would possibly allow his ankles to look more "normal" and not require an orthotic.  After discussing the options in detail, we are going to move forward with the first option of tendon release.  This is a soft tissue surgery.  It is an outpatient surgery.  He would be in walkable casts for 6 weeks.  He would miss about 3-5 days of school, but that is it.  It would give him the ability to push off with his toes as he walks instead of plodding with his heels.  He will still need an orthotic most likely, but that's not a big deal to us as it is all he has ever known.  It seemed like the best initial option to help with pain and endurance.  If we need to do the bone grafting in the future, it can be a later option, but the surgeon felt confident that cord release surgery would give him great benefit, equivalent to the bone graft procedure in terms of endurance and pain.  This surgery will be much less intense than the spinal surgery last year, but it is still a thing - something he'll have to go through and heal from.  He's been through so much.  Hopefully this will give him opportunity though to be more physically active.  Surgery is scheduled for mid-Oct.  

In the meantime, we'll be enjoying these last 4 weeks of summer.  8th grade will bring a new teacher,  new classmates in his room, and more growth and advancement.  

As for Alyssa, she's 12.  She's high energy, a little dramatic, goofy, and always looking for fun.  She finished up musical theatre and is continuing to focus on track, cross country, and ice skating.  She is figuring out how to navigate the middle school stuff and showing great kindness and maturity through the growing pain years.  7th grade, watch out!

I love the grown-ups my kids are becoming.   💗          

      

3.22.24 World Down Syndrome Day

 321… World Down syndrome day. I hope you all wear your crazy socks tomorrow. I thought it would be good to give an update at all things, Gabe.

Gabe’s spinal surgery recovery has been amazing. He did really well finishing up PT. We went to his six month post surgery appointment and the surgeon said he has a 10° curve. Normal is considered 10° or less. He’s very happy with how his spine looks and the success of the surgery. Gabe‘s posture is so much better and he seems more comfortable.

Gabe’s pronated ankles are continuing to be a problem. He’s always worn orthotics, but his ankles are rolling inward to the point where his arches are callousing and it looks so uncomfortable. He told us in the past that it hurts him. We’ve been doing intensive PT with daily stretching for over a year now. It has helped some. His heel cords are still so tight though. The orthopedic doctor we see is referring us to an ankle surgeon specialist this summer. She said the concern is that while now his orthotics do put it into correct alignment, as he gets older, his feet could get more stuck in that pronated position. As he gains weight and height, this can become more and more uncomfortable. We’re basically at a window where we need to decide what to do about it.  We’ll make an informed decision based on the specialist’s recommendations. If he did need cord release surgery, it would be eight weeks nonweightbearing. That’s hard to think about. We’ll see when the time comes. 

Gabe‘s heart looked great back in December. His echo and EKG were even improved some from last year. So thankful for that cardiac surgery team years ago.

At Gabe‘s last ENT appointment, his hearing test showed some deficiencies in his right ear when it comes to high-pitched sounds. He can still hear all language, but really high frequencies are hard for him. Hearing aids were mentioned. It’s not necessarily needed right now, but if it gets worse, it will be. He currently cannot hear birds chirp, water drip, or wind through the trees in his right ear. He may be getting a bit confused on where sound is coming from. This could potentially play into some feelings of anxiety or overwhelming when in a crowd and there’s lots of noise all around him and he can’t tell where it’s coming from. That makes me sad. He gets tested again in May so we’ll see what comes of it.

Gabe is having a pretty successful school year. He still has moments of refusals. He has long delays for processing time. He is improving though. He’s learning so much at school and following direction. It’s exciting to see him maturing. He’s doing chores as well and really doing well with nighttime routine showing us lots of independence. 

Gabe is signed up to do some exciting teenage things. He’ll be participating in special Olympics bocce ball coming up. We also enrolled him in and I can bike camp and a teen camp with the down syndrome association for the summer. We are trying to hit social skills hard and get him to use his strong voice when he’s out and about.

He’s a pretty amazing kid, with a lot of fight, some spunk, and a great deal of emotional intelligence. I ask you today to make a point to connect with someone who has Down syndrome. You’ll be better because of it. 

Back to normal-ish

 Gabe is doing great. At his follow up appointment. The doctor was very impressed with his progress. The before and after pictures were pretty amazing. He still has some restrictions till the end of November such as no climbing, jumping, gym class, etc. He’s not going to break though. He starts physical therapy this week to work on back muscle strengthening. He started back full-time school today and did very well. It’ll be exciting to see him establish a school routine and progress throughout the rest of the semester.

I’ve learned a couple things throughout this whole ordeal. The strength of Gabe is pretty amazing. The body heals in awesome ways. We are surrounded by some wonderful and amazing family and friends who step up and support us. It really takes a village not only to raise kids, but to get through life when it gets hard. Self-care is so important. I tell myself this, and I’ve told others this, but rarely actively take the time to do it. Over the past six weeks, I’ve been to the doctor, the chiropractor, got a massage, and most importantly, I got over seven hours sleep every night for five consecutive weeks without any sleep aids. I’ve reduced alcohol and caffeine intake. I’ve gone to the gym. I feel healthy.

Now the key is to keep up some of those good habits as the chaos of life and work start back up. Gabe started back to full school days today and had success, so I start back to work tomorrow. I’m extremely thankful to have the opportunity from my employer to be home with Gabe during this process. The family medical leave act is a wonderful thing.  

Now back to our new routine. So proud of my family.