When things get hard...again

 Gabe is 13.  Puberty is in full effect, and he is growing like a weed.  About a year ago, I noticed his back looking more muscular on his right side compared to his left.  I pointed it out to his PT and she agreed a bit.  We thought it was related to him being right-handed and showing some left sided weakness to work through.  We went to his primary care last summer and I brought it up again.  She looked at his spine and said it appeared straight.  We saw orthopedics in the fall.  This was more related to ankle pronation and heel cord tightness, but she checked out his gait and his hips.  As the new year passed, his back was looking more like a hump-back and becoming really noticeable.  It didn't seem to bother him, but I was getting worried about spinal rotation from heart surgery or some post surgical skeletal issue as he grew, or something much bigger.  I called orthopedics and they ordered a spine xray.  It showed moderate scoliosis.  As soon as we saw the spinal curvature our hearts sank as we knew it was major.  It's a 47 degree curvature.  They call it syndromic scoliosis as it is related to Down syndrome.  They said while there may have been some subtle early signs, it came on very quickly related to a growth spurt he's had the past few months.  The xray also showed Gabe's growth plates are still wide open.  The positive to this is he's going to grow alot more in the next couple years.  The downside to this is that unless we correct the spinal curve, he'll grow sideways.  When scoliosis gets severe, it can affect your lungs.  With pressure on the lungs, your pulmonary system can take a major hit.  Considering Gabe's airway and cardiac history, he cannot get to that point.  The only option is surgery.  Gabe will be having spinal fusion surgery with 2 rod placements along his spine at the end of August.  The day of surgery he will automatically grow 2 inches.  He had a sedated MRI of his spine yesterday.  Luckily there is no spinal cord issues from the curve such as tethered cord or disc herniation.  Neurosurgery will not have to be involved which is a relief.  This summer he will have frequent appointments with OT and PT to work on stamina pre-op and positioning and maneuvering post op.  We will meet with nutrition therapy to focus on vit. D and calcium and "bone heatlhy" eating while we try to bulk him up for surgery.  He will meet with child life to try to help him understand what's going on and be able to work through the pain.  We will meet with the surgical team to go over every aspect of the procedure.  We may even meet with allergy to make sure there is no metal allergy prior to rod placement.  It's going to be busy.  After surgery, he'll be in the ICU for a day or two.  He'll then be on a surgical recovery unit for a 5-7 days before coming home.  They've warned us that the first 2 weeks are going to be pretty rough.  He will be out of school for 4-6 weeks.  Full recovery may take months.  It's the only option.  It's going to be alot.  All we can do is enjoy our summer and we'll get through it one day at a time.  I wish we were running him to the pool and baseball games instead of all the appointments, but it is what it is.  We've been through hard stuff before, and one thing I know for sure...Gabe's tough (and so is his family).  He's the most resilient and stubborn kid I know.  Never give up on Gabe...even when things get tough.

This is 13!!!

 

And just like that, he’s a teenager. Gabe turning 13 brings about an odd combination of feelings. He’s moved into the awkward phase of life, but still, an exciting one of discovery. I’m excited for this next chapter for him. I’m really proud of all that he’s accomplished. Not only the medical hurdles, but social pieces and finding his community. At the same time, I can’t help but think that we don’t have much time. Independence in certain tasks seems light years away, but at the same time, he’s come so far. I shouldn’t put a time point on anything though…we are all continuously learning and improving after all. It’s an odd feeling. I no longer grieve for that typical kid I thought I was expecting many years ago. I don’t grieve in any way because Gabe is pretty perfect to me and a wonderful fit for our family. What I do grieve over though is when others don’t see his ability, or when his stubbornness or shyness interferes in him showing it off. Because he’s so awesome and he has so much to share with this world, I want him and others to organically experience the amazing gifts he has. Here’s an update on my teenager:

 Gabe’s heart continues to be in pretty good shape. We go to cardiology once a year. He has minimal mitral valve leakage and a slight murmur, but nothing that’s a limiting or requiring medications.

We are watching Gabe’s hearing. He often gets fluid in his ears and that can make high-pitched sounds a little difficult to hear. We’re trying to have some Flonase help before we talk about tubes again. We go back in couple months to reevaluate. 

His airway continues to grow. He still has significant obstructive sleep apnea. He never drops his oxygen levels, but he does have very disrupted sleep without CPAP. He tolerates CPAP wonderfully and we are always trying to tweak settings and find the proper mask fit. Someone needs to paten a CPAP mask for flat nasal bridges.

Gabe is continuing to grow along his growth curve. He’s done really well since he had his feeding tube removed last year. He is eating well during our normal routines. We are trying to work on him serving food on his plate and eventually cutting his own food. Adult men with Down syndrome are usually around 5’ to 5’3”. Gabe is following that trajectory.

Gabe continues to have a little bit of nearsightedness and some shakiness to his eyes due to poor muscle tone throughout his body which is very classic to DS. He doesn’t like wearing his glasses more than a half hour at a time. We are working on it.

Gabe needs his thyroid checked again next month. His labs are kind of borderline. He’s antibody negative, but his TSH lab likes to teeter a bit.

Gabe continues to have some skin issues we are watching. He has a few psoriasis spots that pop up here and there on his scalp. He also has the dermatitis which can show up on his skin with any kind of irritation. He also has some alopecia on his scalp. We use different creams to help with it. Autoimmune issues like this are also pretty significant to DS.

Gabe’s speech has been an area focus. He’s been stuttering so much the past couple years. I always thought it was because he had so much he wanted to get out and had to motor plan it all to get his words out to express what he wanted to say. It’s become really significant and understanding his articulation is hard. We try to do different strategies, but he doesn’t really like to follow speech directions because he knows it’s hard for him. He’s also very quiet around peers so he doesn’t talk a ton because he knows it’s hard to be understood and communicate this way. He always excelled at verbal ability, but it’s become quite a struggle now. He'll start back up with speech therapy next week and hopefully he’ll be more receptive. It’s definitely an area he can get frustrated on, but he has to be willing to participate and put the work in to see the effect. We’ll keep at it.

We do a few physical therapy appointments a year with Gabe. He still needs foot orthotics. He pronates his ankles really badly. Again, poor tone and loosey-goosey ligaments. He often tires from being on his feet because he says they hurt. I’m hoping if we try a firmer plastic orthotic, it will offer more support. He still needs frequent breaks, but he does stay on his feet a bit more I think. It’s really just working on endurance at this point. I would love it if Gabe got involved in a team or Special Olympics. He just doesn’t like being put on the spot having all eyes on him though. He’s come along way with his anxiety, but he still is such a shy kid. All we can do is keep exposing him to extracurriculars.

Gabe has made some significant gains in occupational therapy. We’ve been working hard on chores. He will now put dishes away, make his bed, and put his laundry down the shoot. We’re trying to get him to get the hang of a spray bottle so he can wipe down counters. He’s helping me cook a little bit. We are trying to work on him getting ready for bed independently. He knows the steps, but doesn’t always want to do everything on his own. He still needs some restroom help. He will shampoo his hair, but only wants to use his fingertips. There’s something about getting his palms sudsy that doesn’t feel right to him. He will brush his teeth a little bit, but we have to finish him up to make it effective. We are doing lots of social stories and visits to the orthodontist to hopefully work up to braces.

Gabe had a successful year at school this year. I think adjustments in his schedule, along with having a better grasp on stressors and anxiety has really helped. He is social with others and really likes being there. He’s made great gains this year with reading some basic chapter books, doing some money math, hand writing, and addition and subtraction. He walks around the school like he owns the place and I can definitely see him growing up there.

Puberty has definitely begun. I have to say “hands up” to keep his hands out of his pants at least five times a day. It’s all wonderfully typical, but social appropriateness is not naturally understood to him. We’re really drilling in him what is a private space and what is not. Also, not everyone wants a hug. He needs to know boundaries of what is appropriate or not. When you give him hypothetical situations, he always answers correctly. However, he is definitely a hugger and has never met a stranger. It is a complicated concept though. We are continually working on demands and following instructions. He definitely likes to tell us “no” and push back. He doesn’t really flop anymore, but he definitely knows he’s bigger and stronger and can’t be forced to do things. You often have to wait him out. Proactively making lists of things that need to be done along with positive reinforcers and rewards help a lot. If he misbehaves, we can take things away or deduct screen time. It is getting a bit better, but still requires rewards for compliance that I was hoping would be able to be dropped by this point. His new thing is that when I ask him to do something he’ll say, “why don’t you do that!…oops…did I talk back? (Smiles)”. A lot of it is Down syndrome stubbornness, with a little bit of teenager and Lawrence genes mixed in. It’s enough to drive you nuts some days. When we ask him to do something and surprise us or question if he can, he generally gives us his best effort. For example, if we say “I wonder if Gabe can make his bed really well today….I’m not sure. I wonder if he does really good with that.” Gabe will then run upstairs and make his bed and then yell “surprise”. I think he likes having the control and showing off a bit. It’s pretty funny to see.

Parenting Gabe still requires a bit extra. It’s difficult, wonderful, typical, and exciting all at the same time. Our first born, our teenager….what a gift you are. Keep showing the world all that you are. I’ll make sure they listen and see you. Love you cash-man.

 

Happy Down syndrome Awareness Month

 October is Down syndrome awareness month.  How about some facts?

Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

There are three types of Down syndrome:  trisomy 21 accounts for 95% of the cases, translocation accounts for about 4%, and mosaicism accounts for about 1%.  Gabe has trisomy 21.

Down syndrome is the most commonly occurring chromosomal condition.  Approximately one in every 700 babies in the United States is born with Down syndrome.  

Down syndrome occurs in people of all races and economic levels.

The incidence of births of children with Down syndrome increases with the age of the mother.  But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.  I was 27 when I had Gabe.  The only sign of his DS was his heart defect.  I am glad I  knew about his diagnoses prior to giving birth because it allowed me to work through the emotions so I was ready to fully love and care for him when he was born.  Many spontaneous miscarriages are thought to be from chromosomal conditions.  My body proved I could carry to term, so  I had a 1 in 100 chance of having another child with a chromosomal condition.  I had some prenatal testing when I was pregnant with Alyssa and results came back that she had a 1 in 14,000 chance of having a chromosomal condition.  I wasn't really fearful of DS, more so of the medical complications, so the prenatal testing, along with a fetal Echo, was nice reassurance of a healthy baby.  Prenatal testing is of course a personal choice, but was the right one for me for both pregnancies.  

People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defect, respiratory and hearing problems, Alzheimer's disease, childhood leukemia and thyroid conditions.  Gabe had the heart defect, has some reactive airway issues with illness, and we are watching his borderline thyroid levels closely.  There is a lot of  medical information to discover in that 21st chromosome.  

A few of the common physical traits of Down syndrome are:  low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm.  Gabe has all of these features.  Low muscle tone causes his sleep apnea, need for foot orthotics, slightly awkward gait, eye focus/shakiness, speech articulation, chewing and swallowing speed, fine motor delay, and endurance in general.    

Life expectancy for people with Down syndrome has increased from 25 in 1983 to over 60 years old today.

All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.  Gabe has always caught on very well to reading.  Math requires more manipulatives and takes alot more time.  Following multi step directions can be hard for him.  However, he also memorizes the roads we take to get to places and questions my driving ability if I take a different exit to get somewhere he is familiar with.  He memorizes a schedule, peoples full names, pets names, favorite colors, etc.  Routine and schedules help him tremendously.  He also has a greater sense of emotion than many other children his age.  He notices if someone is upset or sad and gets very concerned.  

Quality educational programs, a stimulating home environment, good health care and positive support enable people with Down syndrome to lead fulfilling and productive lives.  Thank you all for being part of Gabe's team.  

CPAP for obstructive sleep apnea

Almond shaped eyes.  Gabe has a few noticeable brushfield spots if you look very closely.

Single palmer crease

hypotonia

Lover of music and all things silly

DS features aside, he looks and often acts like us :)

*Facts obtained from the National Down Syndrome Society

We crossed the feeding tube marathon finish line!

Gabe got his feeding tube on Sept.11, 2009. That's 11 years, 7 months, and 5 days to be exact.  It was meant to be temporary to combat his reflux and get him through heart surgery. His reflux was causing his airway to swell - throw in sleep apnea and heart failure and things got complicated quickly.  His heart surgery was complicated with some ventilator and high flow requirement due to his ET tube being too large for his floppy airway. It was during this period that the developmental stage of 3-4 months kicks in and most babies lose their natural suck reflux and it becomes a learned behavior. Gabe had nothing in his mouth for over a month. With the heart complications behind us, we had to reteach Gabe how to suck, swallow, sip, eat, tolerate textures, temperatures, and tastes. The feeding experts told me in those early days that it is a marathon, not a sprint.    

I have all the feels today. Eating is still not his favorite thing to do. We still have work to do on cutting food, balancing thin liquids on a spoon, and picking up the chewing pace some. I have some hesitency - what if he has a stomach bug? what if he has a really high fever? - could he hydrate himself through it? He drank enough when he had a head cold. I can monitor him just like a typical kid. If dehydration becomes a worry, take him to the doctor. All these hypotheticals run through my head, but at the end of the day, we haven't used the tube in over 2 years. He's been taking his medicine by mouth for almost a year now. He's meeting his fluid goal. He's gaining weight and height. He's thriving....it's time. No more Infinity feeding pump alarms. No more backed up Farrel bag b/c I forgot to unclamp. No more bed full of formula b/c his line got disconnected in the middle of the night. No more carrying around a gtube replacement kit. No more trying to find sitters who will learn gtube care. No more backup plans for gtube care if we want to go out of town for a day. No more negotiations with GI on how we can motivate him to get him hungry if we are constantly pumping him with formula. No more sippy cup graveyard. No more therapy tools.  No more curious stares because his stomach looks different.  The stoma should close on it's own over the course of a month.  It's kind of like  pierced ear that closes up.  We are keeping it bandaged for a bit to help with any drainage and watching it close.  For Gabe it feels weird without it. 

 Gabe said "my belly looks like yours, and Dad's, and Alyssa's". We finished the marathon buddy. Never give up on Gabe. Gtube removed 4.16.21

 

3.21 Day and Gabe updates 2021

Tomorrow is Down syndrome awareness day. 3/21 = 3 copies of the 21st chromosome. I thought I'd share a big update on all things Gabe. I believe knowledge is power and leads to greater understanding, so I appreciate everyone reading and supporting our boy. We moved a year ago to a new neighborhood to get settled into a new school system that was smaller and the kids could grow with. Our house has had a few improvements over the year and is really feeling like home. We love our neighbohood. People are always out walking, waving, playing, gardening. COVID has made it hard to meet people, but I think overtime, we'll find a great sense of community here. Cardiology: Gabe's repaired AVSD is still looking good. Hit mitral and tricuspid valve leak is still just mild/moderate so we will continue with the annual Echo, EKG and cardiology appointment. Pulmonary: Gabe still has moderate sleep apnea. His oxygen levels drop a little low, but not scary low. He is tolerating wearing his cpap, but finding the right mask fit that works with a flat nasal bridge is challenging. He's averaging 7-8 hours of wear time/night and having about 4-5 apneas per hour (mild to moderate range). He doesn't seem excessively tired. He wakes up 1-2 times/night to get a drink and a quick mask break, but goes back pretty well. ENT: Gabe has small ears which is common in Down syndrome. They usually have to clean out wax in his ears for him to pass a hearing test. We have to hold him down to keep him still to do this which is getting harder. He had a little dip down in his left ear on the hearing test over the summer, but not to the point of concern. Gabe's airway has gotten wider as he has grown. He can still have some reactive airway wheezing, so he is on a steroid inhaler, but it's alot less scary than when he was younger. He used to crash and burn so quickly with that narrow floppy airway, requiring lots of nebulizers and steroids, and retracted breathing that would lead to oxygen and hospital stays. I'm happy those days seem to be behind us. Opthalmology: Gabe is not a fan of glasses. We're still working on it. We started putting an eye drop of atropine in his right eye once a week to intentionally make it blurry so he would have to focus his left eye more. His left eye is weaker. The eye drop dialates his eye, so often have to warn people that his pupils are not equal, but he's okay. Feeding: Gabe still doesn't love eating, but it's gotten so much better than it once was. He loves chips, fries, and cheesecake. When we are eating our normal dinner at the house, he feeds himself pretty well with the occasional reminder. If we eat out or have people over (pre-Covid), he tends to get more distracted and requires more assistance. I'm hoping for additional updates to share later this spring :) Dermatology: Gabe has psoriasis that pops up from time to time on his scalp. Luckly we finally figured out what it was and have some cream to help. Gabe also has alopecia. He has some thinning spots, but a few bald patches from time to time. Luckily, he responds really well to steroid cream for hair regrowth. Down syndrome has lots of autoimmune stuff that can come with it - ex: celiac disease and thyroid disease are fairly common. Leukemia and Type 1 diabetes, while less common, are still more prevelant with individuals who have DS than the average population. Fortunately the hair loss and psoriasis are minor autoimmune reactions compared to the others. Gabe also has periorifacial dermatitis. He basically gets a rash over the summer that lasts into the fall. The rash is typically around his mouth and nose. It's often flared up from sweat, sunscreen, facemask reactions and requires another cream to help with that. As skin oils increase, his sensitive skin can definitely flare. Dental: His teeth are a crowded mess. Braces would be hard to tolerate for him at this point, so we'll continue to work on sensory issues and teeth brushing and maybe we can work up to it one day. Gross motor skills: Gabe is still wearing foot orthotics to help with foot alignment. His biggest issues are endurance. His poor muscle tone wears him out quickly. He would definitely prefer to sit than stand. We're trying to keep him on his feet and develop stronger leg muscles. He is continuing to take an adapted dance class which he really likes. Swim acclamation class has been on hold for the past year. I'm hoping that it will start up again soon. We had a few PT appointments over the summer and are hoping to set up a few more appointments soon. Fine motor skills: We've seen some great OT improvement this fall. Gabe is doing much better with buttons. He is more willing to write when using a styllus. We're currently working on some sensory things - washing his hair, coming his hair are definitely not his favorite things. We've made good progress with teeth brushing. Speech skills: Speech therapy via telehealth was not really productive with Gabe. He also was particpating less and less in person, often shutting down. Covid has really affected Gabe's speech skills. He is still stuttering, but is also having trouble finding words and getting frustrated more. We're hoping to start up speech again soon with psychology co-treating. We're currently on a waiting list. I feel like if he makes some progress with speech like he has recently with OT, his behavior and overall happiness will greatly improve. We've had virtual playdates with friends - donut decorating, cookie decorating, pizza making that have been pretty successful in getting him to interact and talk some. Behavior: I feel like Covid has been hard on everyones behavior and mood...Gabe included. We're seeing Gabe getting a little more agressive. He is hitting some and throwing things. I think he is either frustrated, overwhelmed, or testosterone is intense. We are seeing some great days at school, but of recent, more hard days. It's almost like a reactionary response to demands. He is definitely showing some escape behavior towards work demands and attention seeking behavior to peers. When you have speech delays, it's sometimes easier to hit or throw something to get attention, especially when you're trying to make friends. We've been working really hard on this. School has been very open to suggestions, taking data, giving breaks, etc. We're working closely with our behavior interventionalist. It think there is some sensory pieces too. When you're at home for so long, it can be sensory overload when you start back to school full time. It's an odd balance of showing him some grace due to covid, while teaching him appropriate behavior and expectations. Also, lesson learned, the first 30 min. of Home Along (which Gabe loves) is full of the words jerk, shut up, and dummy. When your kid likes to quote shows, it can be a bad combo. Gabe is 11 - he's still cute, but we are definitley out of the cute years and into the tween years. We are trying to reinforce privacy and boundaries as hormones begin. It's exciting and challenging to watch him grow. It is comforting to know that we have all the resources in place and lots of support to give him all the opportunity to be his best self. Gabe's into baseball, his tree swing, dinosaurs, books, babies, dogs, and Blippi (Lord help us). He gives the best hugs. He has some awesome dance moves. He says I love you every night when I tell him goodnight. Never give up on Gabe. And as for Alyssa - she's a gem. She has made friends pretty easily and adjusted extremely well to school. Covid was hard on our social butterfly, but she showed great resiliency through it all. She definiely wants to impress people. She's had to learn some hard lessons on what is a lie versus "just joking". She's also entering tween status with some smart comments here and there, but she's a really great kid with a heart of gold. She loves all thing gymnastics, ice skating, performing, glitter, and bike riding. She's really smart and loves science. I find random concoctions in my freezer that are "science experiments". Her and Gabe help each other in amazing ways. They kinda have a twin connection. Here's to spring and brighter days ahead. I'm exciting to see more friends and family this year. Happy world Down syndrome day tomorrow! Wear those crazy socks!

Moving on Up

We've thought a lot about future schooling for the kids. We are very happy with our current elementary school and they have loved both kids hard. We are guarded about middle school options as Gabe gets older. In the fall, we toured schools, read up on them, talked to lots of people, and made the decision to look into options to move into a smaller school district with appropriate staffing, good communication, high standards, and happy parents. The school district has long had a reputation for academic excellence. As for special ed., in the past, there have been some dissatisfaction amongst the special ed community, but it sounds like they have learned from past failings and grown a lot based on conversations we've had. I really liked their current special ed. director - she seems very legally based (for both district and student) and their ratios are amazing. So we did a thing - we moved! Why move and not just pay tuition you ask? Well, even with open enrollment, if a school is very crowded, it does not guarantee you a spot. We can't gamble at Gabe being "cut", so living within the city gives us peace of mind. It also prevents us transitioning to an out of district middle school and back to an in district high school - too much transition. It's been hard saying goodbye to our home of the past 13 years. It's been good to us. But onward and upward we go. Change is hard, and exciting, and fun. The kids have adapted well to the new house so far. They are most excited about the basketball hoop and laundry shoot.

Back to school talk

It’s back to school time! It’s the perfect time for parents to talk to their children about different abilities. Gabe has Down syndrome and I am only one parent so my ideas/perspectives are specific to him, but I’m sure other parents would be more than happy to give you conversation tips if you need them. Kids are naturally curious. Alyssa recently asked me why kids were staring at Gabe at Kroger and at the park. I had to explain that Down syndrome is not familiar to everyone necessarily and it’s up to us to show them that it’s not scary and it’s just Gabe being his awesome self. It does not need to be complicated and pointing out similarities with the differences goes a long way. Why does he sit down a lot? Gabe’s muscles work a little differently than yours. They get tired out easily. It take lots of strength for him to move around like you do every day. That’s why he has to take breaks sometimes, why he wears special shoes, and why he can’t always keep up. You can help encouraging him by telling him to walk as fast as you, or play tag. Why does he talk funny? You also have a lot of muscles in your mouth. He has to work on using those muscles especially well so people understand him when he talks. If you ever can’t understand him, ask him to repeat it or say it in a different way because he has lots to say and wants to be heard. Gabe eats really slow and needs help. Why? It takes lots of effort for Gabe to chew up his food. It’s also hard to get it on the fork just right. He’s come a long way in learning how to eat but you can help him by telling him good job when he takes his bites. Gabe likes to be awfully silly. You’re right! He thinks he’s hilarious. He loves when people laugh with him. If it gets to be too much though, tell him to stop. He definitely knows what stop means and should do it when you tell him. He does love joking and slapstick and all things that go kaboom! Sometimes Gabe doesn’t talk to me. Does he not want to play? You may be right. Everyone needs a break sometimes. He does watch you though. He remembers lots of things and always knows what’s going on. The key is to keep asking him and eventually he will say yes. Everyone needs friends and you are a great friend to include him. How is Gabe good friend to you? How does that make you feel? When you see Gabe trying hard how does that make you feel? **I guarantee you they say it makes them want to try their hardest too. Inclusion works! Here’s to a great school year!