Gross motor skill development

Here is the chart for Sam's motor skill development. You can see he will lag behind average height kids a bit.

It's been too long!

Things have been crazy around here lately!

Sam had his PT appointment and moderate torticollis was confirmed. He has stretches that we need to do each day to try to help his muscles to untighten. He seems to be doing a bit better.

He's also trying to roll over. He is trying so so hard but gets stuck on his head. So cute though!

He has a lot of lower body strength. He uses those legs to make circles in his crib and to push himself around the floor. Hopefully his upper body catches up soon.

Updates

Sam had his appointment with the Neurosurgeon. I had worked a very intense night shift the night before and had been awake since roughly 10 PM the night before. I managed to stay awake until 2 PM that day!

Anyway, we reviewed Sam's MRIs. I saw his spinal constriction and it didn't look like the images I saw online of severe compression. The doctor recommended we repeat the MRI at 1 year unless Sam has symptoms of spinal compression. He said it wasn't something to be concerned about, we just need to follow it closely.

Sam's head circumference was 44.5 cms, which puts him solidly at the 50th percentile for achondroplasia. I plotted his head circumference from the last few times he was measured and he has been moving up the 50th percentile curve the past few months. Perfect!

I get the feeling he's staying at the 75th percentile or greater height-wise. His last measurement was 21.5 inches, which was 75-85th percentile. We'll see December 27th or so when he has his 4 month appointment.

Next up is PT on the 7th.

Sam loves to rock out at 5 AM

Sam goes to bed every night at 530 PM. There's no persuading him otherwise. He wakes up at 5 AM, ready to go. That means he's up at least an hour sometime around 5 AM. I decided to snap a few pictures this morning because he's so adorable when he's happy and watching his fan in his room spin in circles.

Sooo cute! :)

The response I dread...

(Note to MT, this is not directed at your mom)

I have been thinking about how people respond to the news that Sam has achondroplasia. I have tried very, very hard to present the information in a way that people know we are "okay" with it. That we don't see it as some awful thing.

But we still get the "I'm so sorry" or the "that's terrible!" or the pity in someone's eyes. I try to understand where people are coming from. I do. But I still see it as an inappropriate reaction.

I know that mothers of children with Down Syndrome, for example, can completely understand where I am coming from. Many a mother of a child with Down Syndrome has had someone say something to the effect of "She's so cute, too bad she has Down Syndrome". What a stupid thing to say!

My son isn't sick. He isn't going to die. He doesn't need pity. If you want to pray for him, that's fine, but pray for him like you would pray for Jack's ear infection issues. He's a perfectly healthy, happy, adorable 3 month old. He loves to watch his fan in his room and laugh at it. He loves his big brother. He is very particular about his pacifier and bottle. He loves to be swaddled and to be sung to no matter how awful my singing is. He is the hit of the daycare as everyone loves to hold him. He may have short arms and legs, but he is perfect the way he is. He doesn't need prays, pity or sadness. There's nothing terrible about him.

Dwarfism has long been seen as something for a freakshow or a curiosity. I hope that by the time Sam is an adult, people will see dwarfism as another expression of humanity instead of someone to photograph without permission, to laugh at, point at, or use as a prop in comedy.

Height chart

A lot of people have asked...so here is the height growth chart for kids with Achondroplasia. The dark shaded section is average height kids, while the non-shaded section is for kids with Achondroplasia.

This chart was developed from a large study of children with Achondroplasia, so it is very reliable.

Sleep study scheduled! Plus early teething.

Sam's sleep study will be January 12th at Primary. That means that I get the super awesome task of sleeping in the hospital pull out chair that night.

Sam hasn't been sleeping all that well the past few days. I think it's more related to the TOOTH he is getting. Way, way too early!

More pictures of Sammy!

ENT visit

Sam's appointment with the ENT went well today. He actually slept in his car seat while we were waiting. So much less stressful than usual!

The doctor said that he didn't appear to have any issues with his adenoids or tonsils restricting breathing or being especially large. He had no fluid in his ears and he was up to almost 12 lbs!

Given our family history of hearing loss due to fluid in ears as well as tonsil issues, the doctor suspected that Sam will need his adenoids and tonsils out in a few years.

The ENT referred Sam for a baseline sleep study. I am still waiting to hear from the schedulers for when that will be.

One appointment down...many to go.

Pictures of Sammy :)

Upcoming medical appointments

Sam has several doctors appointments coming up in the next few weeks.

November 21: Pediatric Ear Nose and Throat consult (ENT). Kids with achondroplasia tend to have problems with fluid collecting near their ear drums due to their unique anatomy. Jack had a huge problem with fluid and had to get tubes as early as they allow because he failed his hearing test substantially.

I would like to be very proactive with Sam due to our family history and his diagnosis. Additionally, ENT can evaluate if Sam is having any issues with sleep apnea. He has had a lot of problems sleeping during naps, so we want to make sure it isn't due to sleep apnea. He also refused to sleep flat until the last few weeks. Something like 75% of kids with achondroplasia have issues with sleep apnea. I am going to request a sleep study unless they give me a *very* compelling reason to wait.

December 1st: Pediatric Neurosurgeon consult. Sam had an MRI a few weeks ago that showed more than the average amount of narrowing to the foramen magnum. Some narrowing is normal for kids with achondroplasia, but from what I understand his is a bit tighter than normal. We will learn more from the Neurosurgeon. He comes very, very highly recommended by both my boss and a coworker. I imagine this appointment is to set up a follow up plan over the next few years.

December 7th: Physical Therapy consult. Sam has at least a moderate case of torticollis and some flattening of his head on his favored side. We will meet with PT to determine how bad his case is and what we can do to try to improve his use of the other side. I really would like to avoid having to put him in a helmet when he's older. While torticollis seems to be more common in kids with achondroplasia due to their large heads, it isn't directly related to his dwarfism.

Welcome!

I have tried to create blogs before and they have been an abject failure. We'll see how this goes.

As anyone who I have shared this blog with knows, our second son Sam has been diagnosed with achondroplasia. It will be far easier for me to update this once each time it is necessary then to send emails to all concerned parties.

So, welcome to Sam's Journey!