Little Troublemaker

Matthew is turning into quite an adventurer around the house. He's getting into more and more, especially the baby wipes and DVD basket, and loves to dump out baskets... toy baskets, laundry baskets, garbage baskets... He dashes to the bathroom whenever the door is left open and unfortunately has discovered the toilet (sigh). The other day I heard him making his way into the kitchen and heard some pans crashing around. Maria, my little reporter, made sure to tell me that Matthew was getting into things in the kitchen and sure enough, he had opened the bottom oven drawer that stores some baking sheets. I love it how he's discovering his surroundings and causing a little bit of trouble at the same time. Sounds just like every other one year old ;-)

He wanted a snack, I guess

A gluten filled mess

Standing up straight

Hello

Lego boy

We had Matthew's annual EI review on Monday. Everything went really well! We're going to continue with the services he receives now- PTx2, STx2, and OTx1 and it was great to hear about the progress he had made. I really like our team, they're very positive and encouraging and Mathew is comfortable with them all. With the school year coming to a close it will be nice to have more relaxed weeks at home, with therapy sessions scattered throughout the late morning/early afternoons.

I finally took him in for his 12 month bloodwork (CBC, thyroid, and a couple other checks). He was a touch guy at the lab and did well for the blood draws. His pediatrician called me yesterday saying that everything looked great, aside from his iron being a little low. This is common around this age for our kids though so I wasn't surprised. Poor kid had a rough week, waking up more at night crying and had a slight fever, most likely teething related since I noticed a couple of ridges in his bottom gumline today.

Life as a 12 month old

We saw many family members over the weekend who mentioned how they enjoyed reading Matthew's blog. I promised them some more updates since I've slacked off and haven't posted in nearly a month! Our typical week now consists of school work for Maria in the morning, therapy sessions in the afternoon, a couple nights of soccer & dance, a busy work schedule for Michael, and chores and various activities filling up our weekends. We've had doctor appointments for Matthew, both his 12 month well-check and a visit to the cardiologist. He weighted in at 18.5 lbs, and 28.5 and had a lousy reaction to his MMR vaccine 10 days after (covered in red bumps and a fever). His PFO in his heart is still there but should decrease in size, no invasive surgery necessary. We don't need to return to the heart doctor for another year. I still need to get to the lab to do Matthew's CBC and thyroid tests but it's on my list.

We have a fully loaded therapy schedule now, with PT 2x/week, speech increased to 2x/week, and OT 1x/week. OT (occupational therapy- fine motor skills) is our most recent addition and our therapist, Melissa, is awesome. All of the sessions are generally held on Tu-W-Th, allowing Monday and Friday as free days. I can breathe easily on those two days, without anyone coming to the house, and know that the house can stay messy if it's messy. Though I'm very grateful for all of the services we receive and know that they have helped Matthew significantly, it's a lot to juggle with 4 little kids, nap times, feeding times, school work, etc. Once Maria's school year is complete we have a wide open schedule with no activities, so bring on the therapy! Our annual meeting is next Monday, it's a therapy pow-wow where all 3 therapists, our service coordinator, and the county EIOD come together and write up Matthew's new IFSP.

Some of Matthew's recent accomplishments... he's creeping on all fours and pulling up to stand! This is huge, for the longest time his little legs were like Jell-O and bottomed out whenever we would stand him up. And now he's doing it all alone! He still has a fast army crawl and usually beelines for the bathroom, the floor vents, or the front storm door. We're working on cruising, or moving along standing up, now. His babbling has really picked up. Just a couple weeks ago, clear as day, he said, "Hiii Dada." He says a loud, grunting "Hiii" to everyone and waves. He's clapping often and lights up when we sing, "If You're Happy and You Know It." And tonight he did his first sign, "more." Matthew's still nursing about 4 times a day but has tried regular milk and yogurt and liked them. He still doesn't get the hang of the straw cup but does well drinking from a regular cup. He generally eats bananas and rice cereal for breakfast, crackers and a Stage 2 tub for lunch, and another Stage 2 tub for dinner along with food we're eating chopped up into small pieces. Most of the food he spits right back out, but at least he's taking part in what we're eating. The kid could live on crackers if I allowed it though.

But enough of those stats and facts... his favorite things to do is play with his siblings and watch them as they run all around him. They are so sweet to him and he just adores them.

In their "nest"

"Hiiii Dada!"

We have a creeper!

Trying out the car

Hi!

Soccer night at the park

Mass with Daddy

Our family at Matthew's aunt's First Communion, also pictured with grandparents and aunts and uncles

A special time with his great-grandma

Special Features

I never knew too much about the unique features people with Down syndrome can possess until I had Matthew. Now I think they're pretty cool! When I was pregnant with Matthew the ultrasound tech saw a sandal gap, or a space between his first and second toe, on his foot. This can be common in people with Down syndrome but the general population can also have a big gap between their toes too (like Michael!). We had an additional ultrasound later on to check it out but the maternal fetal medicine specialist said his measurements looked great (and she didn't see much of a space between his toes). This was a very soft marker and one could not diagnosis Down syndrome based on a sandal gap alone. As soon as he was born I checked out his feet and, sure enough, he has a cute little gap. And purple feet... I think that's a circulation issue.

Next are his little features, like his smaller head and his teeny low-set ears. We noticed his ears right after birth. Kids with Down syndrome can be more susceptible to ear infections due to their small ear canals. We've been lucky so far this winter with zero ear infections and the doctors have never had a problem seeing his ear drums.

See that single crease in the palm of his hand? That's a simian crease, or a single palmar crease, as compared to two creases in a typical palm. Isn't his shirt great? People with Down syndrome can also have smaller hands but I haven't noticed too much of a difference with that yet. Also, another feature is upward slanted eyes. We think he looks similar to Michael Jr., who also has smaller eyes like his dad.

Hypotonia, or low muscle tone, makes Matthew super flexible. We always see him on the floor with both feet in his hands and chewing on a foot. At his recent well-check the nurse commented on how flexible he is. I'm so used to seeing it so it doesn't phase me but I could imagine it looks a little silly to most. PT has greatly aided in increasing his muscle tone but his flexibility will always be there.

Hypotonia can also affect his oral motor skills and speech, since the tongue is a muscle. We sometimes see Matthew with his mouth open (and tongue upwards), especially if he's concentrating on something tricky, such as sitting up independently. His speech therapist is happy with his tongue position though and the way he puts his lips into an 'O' but we do see his tongue pop out occasionally.

Finally, my favorite feature: Brushfield spots on his eyes. Brushfield spots are little white spots on the iris that are common in babies with Down syndrome who have blue or hazel eyes. Matthew slept so much after he was born and I just wanted to look into his eyes. When I was finally able to see his beautiful eyes I couldn't get enough!

Blood work results

We had a good and quiet week at home aside from the kids getting over some colds. Tuesday I took Matthew and Maximilian to the lab to have some blood work done. Matthew had to have a CBC test and his thyroid levels checked and Maximilian was tested for Celiac (I don't think he has it but it's standard to check all other family members- we'll hear results next week). They were such tough guys! Our pediatrician called yesterday and said that Matthew's levels all looked good. What a relief! They did the CBC to check for leukemia, which is much more common in children with Down syndrome vs. typical children. Good news is that kids with Ds respond very well to treatment. So, I was happy to check that worry off of our list and we will repeat Matthew's blood work again when he turns 1 year. Here are some recent pictures of the little man!

Playing his piano. This play mat turns into a sit up piano, so much fun

Rolled under the swing!

Always eating his feet

He really wants to crawl and is always pushing his legs up to try

Michael has been working late most nights lately and sometimes misses seeing Matthew before bedtime. When I do keep him up, he always greets his daddy with a big kiss

So sleepy but so happy to see Daddy

Today's discovery, mail!

Cardiology Appointment

This morning Matthew and big sister Maria had a date with Dr. Levin, their cardiologist at Children's and Women's Physicians of Westchester. Maria just had to go for her yearly followup after having Kawasaki Disease 2 1/2 years ago. She wore her heart shirt and heart pocketed jeans for good luck. According to her echocardiogram and EKG, her heart looks perfect and she is clear to go three years before her next appointment. Woohoo!

When Matthew was born the neonatal doctor told us that 50% of babies born with Down syndrome have heart defects. She ordered an EKG and echo and Matthew has these tests done at just one day old. Although we were unsure of his diagnosis for sure, it was so nice to have that taken care of right in the hospital. The cardiologist told us that Matthew had a couple of common small holes in his heart that hadn't closed up yet, but that they should with some time. We were happy that his heart was healthy.

During this morning's appointment, the cardiologist mentioned just one opening (I am assuming the other hole closed) that appears to be a PFO, or patent foramen ovale, which is exactly how things were described to us 6 months ago. According to the Mayo Clinic:

A patent foramen ovale (PFO) is a hole in the heart that didn't close the way it should after birth.

During fetal development, a small flap-like opening — the foramen ovale (foh-RAY-mun oh-VAY-lee) — is usually present between the right and left upper chambers of the heart. It normally closes during infancy. When the foramen ovale doesn't close, it's called a patent foramen ovale.

Although it's common to have a patent formen ovale, most people with the condition never know they have it. A patent foramen ovale is often discovered during tests for other problems. Learning that you have a patent foramen ovale is understandably worrisome, but most people never need treatment for this disorder.

Not Matthew's heart but an image of one with an ASD

The cardiologist wasn't quite sure if he saw a flap to cover the hole or not so we will followup in 6 months when Matthew is one year old. If it isn't a PFO, it could possibly be a small ASD, or atrial septal defect (a hole in the wall between the two upper chambers of the heart; may close on its own). Only time will tell if it is a PFO or an ASD. Either way, if the hole doesn't repair itself it would not require open heart surgery to make the correction but a much less invasive catheter into the groin procedure described here.

Here's to Matthew's little hole closing!

First Few Months

In an attempt to catch up to Matthew where is he today at 6 months, here are a handful of pictures from the early days to three months. Matthew has been a calm little guy from the start. Early Intervention began around 2 months with physical therapy and speech therapy. He slept through the night very early on and continues to nurse often throughout the day. His smiles started to appear around 2 months old. He rolled from his belly to back early on and tolerates tummy time well! Medically, his heart is healthy (we will monitor 2 small holes) and hearing is just fine and we will continue regular follow-up on those two, along with checking his thyroid and CBC count on a regular basis.

Opening his eyes a little more each day

Still so sleepy though!

So rashy on his baptismal day- we think it was an allergic reacion to fleece. 1 month old.

"When God made me, He was showing off"

First smile caught on camera! 2 months old

Sibling time!

The closest cousins in age, Matthew and Anna, three weeks apart

4th of July! 2 1/2 months

Prayer time

Matthew at three months old- 7/16/12

Growth

There was a time when I was convinced that Matthew would stay 7 pounds for forever. He was born at 7 lbs, 8 oz. and was so sleepy for a long time (even today, at 6 months old, he still takes about 4 naps a day). During our time in the hospital as I was getting accustomed to nursing Matthew, a nurse made me paranoid and said that Matthew didn't have a good suck. I politely told her that similar to most babies, he was tired... because he was not even 24 hours old. I then made it my goal to feed him, and feed him well. At Matthew's first few checkups his weight had increased, slowly but surely. His bilirubin levels were high and resulted in many trips to the lab. Eventually they leveled out though so we were able to avoid going under the lights.

Getting some sun

Soon after, I found out that Down syndrome kids have different growth charts compared to typical developing children and that they tend to grow slower earlier on. I printed out copies of the following charts and gave them to our pediatrician to track Matthew's growth.

What Is Down Syndrome?

The National Down Syndrome Society is an excellent resource in learning more about Down syndrome:

In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. 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. 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 - although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.  Continue reading.

Karyotype of a male with Trisomy 21