Tuesday, November 4, 2014

Tuesday, October 21, 2014

Down syndrome is an adventure I never thought I'd have, but I sure do love my tour guide

October is Down syndrome awareness month. Down syndrome is the most commonly occurring chromosomal genetic condition and occurs in every 1 out of 691 births. There are 3 different types of Down syndrome - Translocation (inherited, very rare), Mosaic (pretty rare) and Trisomy 21 (the most common). Gabe has Trisomy 21, meaning he has 3 copies of the 21st chromosome in every cell. A syndrome is a pattern of symptoms that characterize a condition. Here are some characteristics of Down syndrome. Cardiac Issues: Gabe had an atria-ventricular septal defect (AV Canal)repaired at 3 months of age. This is the most common cardiac issue in children with Down Syndrome. It was also the only sign of DS that Gabe had in-utero. About 50% of babies with DS are born with heart defects. Life expectancy of adults with DS is increasing more and more due to the advances is cardiac medicine. We go to the Cardiologist every year. Gabe’s repaired valves have very minimal leaking with very little murmur, so all is well. No medication necessary. 10-20% of babies with AVSD repairs need their mitral valve tightened up some when they get older, but as of now, they don’t anticipate Gabe needing that done. Obstructive Sleep Apnea: Down Syndrome has lots to do with poor muscle tone. Muscle tone includes the muscles in your mouth, throat, and airway. Gabe does have a “floppy airway”. As a result, he had severe apnea as a baby. He has outgrown the apnea and his airway has gotten stronger. Sleep apnea is no longer an issue, but we do see a pulmonary doctor once a year to touch base and monitor for symptoms. He may also get a sleep study from time to time as he gets older. Along with the twitchy airway comes asthma. His bronchioles get inflame some with illness. It is well controlled at this point. Vision: Gabe does have some nystagmus. The tone in his eyes can take some extra strength to focus. He does have glasses which are encouraged, but not mandatory at this point in time. He doesn’t like to have things on his face, so he only keeps them on for 30 minutes or so at a time. He likes to hide them and sometimes he throws them in the toilet. GI: 8-12% of babies with Down Syndrome have some type of GI tract abnormality. Gabe's GI tract is intact, however, he had severe reflux as a baby, right around heart surgery time. This is why he required a feeding tube. Eating and drinking remain works in progress. Chewing and swallowing are a lot to coordinate with your muscles. Other kids with DS may have Hirschsprung Disease where a portion of their colon may be dysfunctional. Many kids with DS have severe constipation. Gabe has neither of these issues. Thyroid Disease and Diabetes: Many kids with DS have hypothyroidism. They also have a slightly higher incidence in developing diabetes. Gabe has neither of these issues. He has thyroid hormone levels measured every year to monitor for this. Hearing: Some children have issues with hearing. Kids with DS traditionally have very small ear canals. Gabe requires PE tubes so his small ear canals stay open. As long as the PE tubes are in place, he can hear just fine. Some kids even have auditory nerve issues and hearing aids are necessary. This is not an issue with Gabe. Dental Issues: Kids with DS have smaller mouths which can cause teeth crowding. Their teeth also come in a little delayed and out of order. Gabe definitely has crowding, but I think it’s more genetic. Blood Diseases: Kids with DS have a higher incidence of ALS (a type of leukemia). They do have a good prognosis with treatment. This is not an issue with Gabe (thank God). He does have CBC measured every year to screen. Atlantoaxial instability: Many kids with DS have neck instability having to do with a gap in the bones in their spine. Gabe has had an xray taken twice to screen for this. Both have come back as inconclusive. It’s apparently really difficult to view and they actually no longer screen for this. They just monitor gait. As of now, there are no obvious signs. The biggest thing is no heavy contact sports and try to limit the somersaults. Alzheimer’s Disease and Dementia: As adults with DS grow older , they can have some regression in memory and learning. This area is still being largely studies as adults with DS live longer. Gabe is learning like crazy right now. Behavior Issues: Kids with DS are often diagnosed on the autism spectrum, with ADHD, with sensory issues, and even depression. Gabe does have some sensory issues. He doesn’t like loud noises (though he is getting better with this). He doesn’t like anyone but a parent to hold his hand and can be frigidity if touched. He also has trouble being still when going to sleep. I know this can be typically with kids, but it kind of reminds me of restless leg. He tends to calm more if he has some pressure on his body. He use to lick objects a lot, which has subsided. He does still like to touch everything and knock things over...because he thinks that's hilarious. We are very fortunate to have good specialists to monitor healthcare and associated diagnoses that go along with DS. I share this because it gives a little glimpse into some of the symptoms you may notice with Gabe, and knowledge leads to greater understanding. Now that Gabe is 5, more peers notice his behavior being different than theirs. I find that if you keep it simple, kids don’t make a big deal out of it. Also, if you bring up similarities, they learn how to play with him more. For example: “Why doesn't Gabe play tag and run with me?” Response: “Gabe is learning how to run and jump. His legs have to work harder to move. You’re a good teacher though. Show him how you do it. Look Gabe’s trying to do it too! Good job trying Gabe!”. "Why doesn’t Gabe talk normal?" Response: “Gabe talks, he can just sometimes be hard to understand. The muscles in his mouth have to work extra hard to talk. It’s like he has a mouth full of marshmallows trying to get the words to come out. Be patient and listen to him and ask an adult if you don’t know what he says. He wants to talk to you”. “What does Gabe like to play?”. Response: "Gabe likes to play hide and go seek. He also likes to read books and play I spy. Do you want to play those games with him? Gabe is beginning to come out of the side by side play stage of development and begin really engaging with peers. It's exciting to see. I've also recently discover some books: We'll Paint the Octopus Red is a good one for siblings. My Friend Isabelle is good at explaining all differences and special needs. My Friend Has Down Syndrome (Lets Talk About It) Happy Down Syndrome Awareness Month! Knowledge = Power

Sunday, September 7, 2014

Great weekend!

Buddy Walk and Coney Island. 

Wednesday, August 13, 2014

Friday, May 30, 2014

In a rut

Gabe has been going through some challenges lately.  It started in April.  We went to our GI appointment and found out that Gabe’s weight had plateaued, despite eating well for us at home.  We’ve been working closely with a dietitian who has givensome good recommendations  with ramping up his protein.  We also started Duo-cal which is a calorie supplement.  We noticed a pattern in doing our diet recall in that Gabe is eating significantly less when he is at school.  I think it is distraction and I think he knows he can just graze through lunch and snack and get by and then eat a lot come dinner time.  We have since let him start watching the ipad at snack and he all of a sudden has started eating more.  Distraction almost helps him b/c then he doesn’t focus on the work that is required, he just eats.  He looks bigger to me and I think he’s filled out some.  We go back to the dietitian next week, so hopefully he has packed on some pounds.  Gabe had been consistently drinking 20-27 ounces/day and meeting his fluid goal, so we have not had to supplement any liquid through the gtube for months.  The doctor was talking about taking it out.  A couple days after the GI appointment, we got a phone call that Gabe’s labs show that he is mildly dehydrated and they want us to use a new fluid goal of 38oz/day.  Now we have to give fluid boluses again when he is asleep.  And guess what?...as a result of being fully  hydrated, he’s not thirst till lunchtime the next day and is drinking less.  This is the same cycle we were in a year ago.  It’s very frustrating.  Maybe if he would take bigger gulps, he would get more volume in, but how do you teach a kid to drink more if they are not thirsty?  It’s frustrating.  

The second challenge we’ve had lately is Gabe’s behavior.  He is refusing to participate in therapy.  He has learned he can “wait them out”.  He also hasn’t been responding well to time outs.   He doesn’t seem to care.  We started behavior therapy last month to help with potty training.  I’m glad we have the therapist on board now that we are seeing these other behaviors.  We have some good tricks to reinforce good behavior and some modifications to our time out rule.  After sitting on the stairs, Gabe has to participate in something that we want him to do.  Hopefully this will drive home the message that free play is a privilege and you shouldn’t hit your sister, throw you cup, etc.  As far as therapy goes, he has associated work with his therapists.  We had a meeting yesterday and discussed ideas toremotivate Gabe and make therapy fun.  Hopefully he feels less stress over it and more fun this summer.  He has also started spitting.  After he does it, he says “no spitting, you’re in trouble”, so I know he thinks it’s bad.  I’m trying to just ignore it and hopefully he’ll stop.

It’s hard when you run into challenges.  Challenges bring up little moments of grief for me.  Not grief over Gabe by any means, but grief over the hardships he has that we all have to work through.  It doesn’t consume me by any means, but it’s something that has to be worked through.  We are fortunate to have all the resources in place that he needs.  I keep telling myself the lesson I’ve learned so many times…never give up on Gabe.  Yesterday was his last day of preschool.  We went out for Mexican food (Gabe’s fav) to celebrate.  He was happy as can be and dancing in his seat.  We then went and played at the park.  He had a great day.  I was emptying his backpack last night and I found a note from his busdriver.  



They get it.  It’s just what I needed.  Don’t ever give up on Gabe.  

Tuesday, April 22, 2014

Kindergarten here we come

Gabe is all signed up for kindergarten in the fall. We had his IEP transition meeting last week. I couldn't be more happy with his soon to be elementary school.  He will have to transfer schools after preschool this year, but he will still be in the same school district.   His OT and PT will remain the same.  His new teacher seems great, and the special ed teacher seems like she has really great ideas. The principal is on board with helping us anyway she can.  They are going to start by pulling Gabe out into a special ed classroom for 20 minutes twice a day and see if they can decrease that amount over the course of the school year.  I want him to be integrated as much as possible unless he is having issues focusing. It is really important to us that he socializes with his peers.  The meeting went really smoothly, and they do not seemed very overwhelmed by his special needs it all.  I'm feeling really good about next year. It's such a relief to know we have a good plan for him moving forward.  I made a book about Gabe on shutterfly that I shared with all of his up-and-coming school staff. It talks about what he does well and what he needs help with. They really seemed impressed by it and I think it helped them see beyond the written profile.  I will be requesting another meeting after the first report card to touch base with the group and make sure nothing needs to be modified. Hopefully I'll be happy with things then like I am now.
My little boy is growing up.  Gabe is really rocking the playground lately. He's all over the place climbing at the park. It's great to see.

Happy Easter!

Tuesday, April 8, 2014

It's been awhile

Our family has been very busy for the past couple months. Winter seemed to last forever around here. It's finally getting a little bit warmer and the kids are able yo play outside some. We made it through the winter without any hospitalizations.   Gabe was officially diagnosed with asthma, and did have a bought with walking pneumonia, but we made it through cold and flu season without any major scares.  Justin was really busy last month with work, but has calm down some.   I was out of town for a couple days at a nursing conference in Las Vegas for a presentation, but my workload is easing some now as well.  Gabe is all signed up for kindergarten in the fall. We have his IEP meeting for transitioning next week.  Alyssa is so cute lately. She's officially potty trained and want to do everything herself.  We have started some behavior therapy with Gabe to help complete the potty training process with him, along with some assistance with cooperating when it comes to difficult tasks i.e. handwriting scissors jumping, etc.  Justin's mom and Bill got married last weekend. It was a great day. We're taking the kids to an Easter egg hunt this weekend. I'll be sure to post more pictures frequently.

Wednesday, January 15, 2014


We took Gabe to the eye doctor last week for his annual checkup. Turns out he's still a little blurry and could benefit from eyeglasses. His prescription is very slight, but we're going to try it. Today he kept them on for about 30 minutes after dinner which I thought was pretty good.