Aaron: Age 4

I stopped journaling during Aaron's 3rd year and so the next (and last) entry I have is from March of 2010, when Aaron was 4 years old.  Here's what I wrote at that time:

Age 4:

Ack!  I stopped journaling.  Whoops!  I am blaming Baby #4!  HA!  Well, let’s see.  Aaron is now 4 years old.  He is very tall… only about an inch or so shorter than Asher.  Not sure how many inches that is though, but suffice it to say that we are always asked if the boys are twins because they are the same size!  They wear the same size clothes (size 5/5T).  Aaron is standing nearly perfectly straight now!!  His knees were at about a 5 to 10 degree bend after his casts came off and the good news is they stayed that way (instead of getting worse like we thought they might).  And gradually, especially over the past year (age 3 to 4) that bend has all but disappeared.  The more tired he is though, the more bend you will see. 

Just this past week or two, I have gotten Aaron to jump off a low step.  Twice.  He is very reluctant to try it and insists he can’t do it, but he is starting to figure it out.  I’m hopeful in another year he will have mastered jumping off a step.  

He is running now, but it isn’t a fast run and his feet stay close to the ground.  But he can run and I know that will only improve with time.  He is such an amazing little boy!  He has really thinned down too.  He weighs about 45 pounds I think.  His head is still huge.  Not sure on size right now.  

He is starting to learn to read, but it is a slower process so far than it was for Ada and Asher.  He is very interested in spelling words he sees so I know he’s ready to start learning to read.  He also loves to COUNT.  He counts everything!  He can count to twenty, can count backwards from 10 to 1 and so forth.  

He loves to play with Asher and with Aiden.  He is still very sensitive and cries easily and often.  We’re still working on him “using his words” instead of crying and/or grunting.  Sometimes he just grunts and points to ask for something so we always make him ask nicely with his words.  He finally potty trained this summer at age 3.5, but just recently he has peed in his underwear several times a week. This is a very new thing and we’re not sure why it is happening or what to do about it.  [Note: When Aaron had his serial casting, he couldn't use the potty, so all that we had gained prior to that was completely lost and it took a long time to regain it, but he eventually figured it out!]


Pictures from Age 3:
I didn't journal, but I did take pictures while Aaron was a 3 yr. old!  Here are some photos from that year.

Ada, age 6; Asher, age 4, Aaron, age 3; Aiden, 6 months

Aaron: 2.5 to 3 years old

Snippets from my journal during Aaron's second half of his 2 yr. old year.

31 months:
Aaron had his follow-up echo and he looks really good! He doesn't even need to have antibiotics for a dental appointment now. And we don't have to return for 2 years.  Yay!

Yesterday we spent 5 hours (plus 2 hours travel time) visiting the pediatric orthopedist for both Aaron and Aiden.

We left with the following plans/information:

Aaron is going to undergo serial casting on his legs. Starting Monday, I believe. I *think* we will be casting both of his legs at the same time. It will take 4 to 6 weeks total; each cast stays on for one week. We could do one leg at a time, but that would double the time this all takes. But if we do both legs at the same time, he won't be able to walk and we will need to rent a pint-sized wheelchair for him. So we aren't sure yet just how we will get it all done, but I'm guessing we'll be doing both at the same time.

After the casting is all done, he will get new splints for his ankles/legs. They will be different from his current ones -- they will be "floor reaction" ones meaning the hard plastic will go in the front of his legs instead of in the back.

These are Aaron's AFOs (with SMOs).  I don't have a picture of the floor reaction splints.  This picture shows the bend that Aaron had in his knees at this age, even with splints on.  The floor reaction, with the plastic in front, was supposed to keep the knee back better, but they didn't work out too well.  They were so heavy that Aaron toed-in even worse than usual and had a difficult time walking in them.  If you look closely (or click to enlarge the picture), you can see Baby Aiden in the background.

~~~

Aaron has been officially potty training for about a week now and he is coming along great! He can pee standing up like his big brother and dad even! #2 isn't making it into the potty yet, but we're getting there! Yay!

~~~

Aaron has quickly turned into a crazy potty training addict. He is going to the bathroom every 10 to 20 minutes. He's having a blast. And he has fallen in love with using crazy amounts of toilet paper. And he is so proud of himself! He's even standing up to pee. Go Aaron! Just maybe a little less obsessively? :-)

~~~

This week Aaron got his first set of leg casts on.  He did awesome.  He loves his casts.  When the orthotist finished putting them on, Aaron looked and down and said, "Oh, I have shin guards!"  Asher very much wants his own casts and so he's been wearing his shin guards from soccer all around the house all day, every day.  It's cute. :-)  However, the first pair of casts started to slide down his leg and were cutting into the tops of his feet.  Then his diaper leaked and pee and poop got into the top of the back of one of the casts.  Eww. We were supposed to have them removed today and a new set put on, but I called in and we went  yesterday to have them replaced because of the sliding and the poop.

Aaron and Asher

Aaron did great getting the old casts cut off.  He didn't mind the loud saw at all.  He just smiled and said, "It sounds like a car!"  And he did just as well getting the second set of casts put on.  Our PT came to the appointment and did some PT stuff with him between the sets of casts to exercise his legs.  The second set of casts are a tad shorter and have a foam cushion at the bottom.  They are still causing some sores around his ankles, but there isn't too much we can do about that.  It doesn't seem to be bothering Aaron at all. 

He figured out yesterday how to get up into a standing position while wearing the casts.  He craws up like a "bear".  It took him several tries to get it, but he finally did and he was so proud. :-) 

This current set will come off on Monday.  Then we'll get a third, and hopefully final, set.  So it is going MUCH faster than we had originally thought.  We could be done in as little as 2 weeks total.  We're already seeing improvement in his legs from the first casts being on just 24 hours.  So hopefully we'll be done with this soon.  I'm so glad Aaron is handling it all so well.  Really, he is handling it much better than me!

Aaron: 2 to 2.5 years

Snippets from my journal entries covering Aaron's first 6 months as a 2 yr. old.

28 months:
Aaron is learning to walk faster and faster.  He's also pretty good at walking backwards.  Two weeks ago he figured out how to get into a standing position all on his own without pulling up on anything.  He can do it, but still often heads to a piece of furniture and pulls to a stand anyway.

29 months:
Yesterday Aaron was looking at our box of mini-jars of Playdoh. He started naming all the colors he saw to me. White, yellow, green, pink, black, red, etc.. When he got to the brown one though he said, "Chocolate." :-) That's my boy!

Notice how Aaron is standing with his knees bent.

Yesterday evening I helped Aaron take off his clothes so we could get his jammies on and I asked him to please take his shirt and shorts to his laundry basket in his room. He toddled off and then came back to me saying, "I put them in the basket!" Well, he was a little confused apparently because we later discovered his shorts floating in one toilet and his shirt floating in another toilet! :-)
Gave birth to our fourth child, Aiden, two days after this entry was written in late May, 2008.

(My husband gave me bunny ears while I was in labor.  Nice.)

30 months:

Time for another progress report!  I took Aaron to a checkup earlier this week and he now weighs 37 pounds, is at least 37 inches tall (actually taller, but it is hard to get a good height measurement for him) and his head is even more huge. His head continues to increase off the charts on growth percentile. His top fontanel is still a bit open and until it closes (hopefully in the next few months) it can continue to grow at an increased rate.

I'm hoping that once his fontanel does close and the rate of growth slows down that maybe his body will have a chance to catch up. While we don't think it is causing it, we do think that his huge and heavy head is exacerbating his walking with his legs bent at the knees. If he can grow into his head a bit with his body size, it won't be as heavy a burden to carry around (literally).

Anyway, he is walking everywhere now and can climb up and down the stairs by himself and up and down the ladder on the fort part of our swingset out back. All of that is great exercise for his quads but he is still walking with his legs bent. There is a bit of tightness left at the knee, but we think it is mostly a muscle weakness issue in his quads. Time will if he legs will be able to develop the strength to stand fully straight or not. We see his pediatric orthopedist at the end of the month and I suspect he is going to recommend we try serial casting of his legs next.

Next week we see the guy who makes his orthotics for his ankles and legs. Our PT isn't sure which type of orthotic would be best right now. We'll see what they come up with next week. There are pros and cons to each kind.

Our developmental therapist was out last week to do another evaluation and she said he is at or above age level in every area of development except gross motor. He scored out at 22 months of age for gross motor because he cannot run or jump yet. He can kick a ball a little bit. His verbal skills are through the roof.

We haven't officially started potty training yet, but he is probably ready. He can't pull of his shorts by himself though and I wish he could. I'm thinking we will start training maybe in August.

Almost 31 months:

Our PT sent us her eval report in the mail this week. She scored Aaron's gross motor skills at 18 months. :-( It gets worse... yesterday we took Aaron to the guy who makes the braces for his ankle and legs. We were there because Aaron has outgrown his old splints and needs new ones. We were discussing what would be the best option for him this time around. Our PT came to the appointment too. I heard her say to the orthotist that she is starting to doubt that Aaron will ever be able to walk with his legs straight. Of course, we're still in a wait-and-see phase and anything can happen, but based on her experiences (noting that Aaron's situation is a bit unique) she is starting to think it may be permanent. She is quick to say she could be wrong, of course, but still it bummed me out A LOT to hear her say this.

We see the pediatric orthopedist at the end of the month to discuss the next thing to try. I'm guessing he will suggest the serial casting, which we will do if he does suggest it, and then the splints guy would make new splints for Aaron after the casting is over with.

Next week we see our new cardiologist (the old one moved away) for both our youngest boys. Hopefully we will get some good news from that appointment for both boys.  I need some good news.

And some sleep.

(Aaron loved to walk up and down our sidewalk with his walker.  He was good for about a max of 10 minutes at this age before his legs would begin to tremble from fatigue.)

Aaron: 22-24 months

Snippets from my journal entries about Aaron from ages 22 to 24 months of age:

22 months
Aaron has officially taken a total of 7 independent steps! Not all at the same time - they were spread out over the past week - but very exciting nonetheless. If he keeps this up, he will surely be moving much faster than I have been lately*.

*I was in the first trimester of my pregnancy with Aiden! Picture taking and my journal entries slowed way down during this time period!

These were his new thumb splints he wore for a while. He figured out pretty quick how to get them off when he wanted to. He called them his "gloves."

This was one of his new ankle splints. AFO and SMO combined. He could wear the SMO part alone and often did. These were so hard to get into shoes.

Just a cute photo from Halloween that year!

24 months
It's official. My baby is a 2 year old. It's really hard to believe! So much has happened in the past two years. So much in just the past year alone. CT scan, MRI, countless tests via blood work. Countless sessions with PT, OT and DT. Visits to a pediatric neurologist, geneticist, pediatric orthopedist, orthotist, and a developmental pediatrician.

He has come a long way. He still isn't walking yet but we fully expect to enjoy that development in the coming year. He's come along way in his gross motor since just August. And his language development is awesome and so much fun.

I took him for his 2 yr. checkup this morning. He weighs 34 pounds, he's 37" long and his head circumference was a whopping 53cm. So yes, we have a very big boy. Walking would be a very good thing - he's heavy! :-) He didn't cry at all the whole time (he's much less sensitive to other people touching him or talking to him than he used to be). He did fuss while we were waiting in the lobby. He spotted an elderly woman's cane sitting nearby and he mistook it for a giant candy cane. He wanted it and was NOT happy when I denied him access. :-)

He's a comical little boy who loves to make people laugh. He loves to explore and to play with his older siblings. He loves to repeat every thing he hears. Recently he started climbing. Our first climber! He still loves to eat, still loves lightswitches and is a fan of the tv show Super WHY. He can sing his ABCs and count to 20. He can stand alone for about 30 seconds and sometimes take about 5 or 6 steps at a time by himself. He's master of his reverse walker and can walk anywhere with that thing. He loves to go outside and loves to go on outings (noticeably more than our other 2).

He is so much fun! I am really looking forward to his 2-year-old year.

He loved his reverse walker! I think it really helped him feel more in control as he took steps.

Aaron: 19 to 21 months

Snippets from my journal entries when Aaron was 19 to 21 months of age:

19 months
Aaron weighed 30 pounds 12 ounces at his weight check this week. So he's lost about a half a pound. It is very good news that we have stopped the weight gain snowball. Even if he maintains his current weight, it will still help.

The skim milk seems to be making the biggest difference. Visiting the nutritionist was a complete waste of time. She was young and inexperienced and certainly had never had a patient that young who needed to lose weight. When she started telling me, "Make sure you let him use his own spoon" I thought to myself, "Ok. You're talking a third time mom, here. I don't need you to tell me the basics of feeding a toddler. I don't need you to show me the food pyramid. These things are not the problem! I need you to tell me how to get my baby to lose 5 pounds. He eats healthy foods, a nice variety, and a normal quantity."

Sigh.

We ended agreeing on the elimination of whole milk and trying to shave off small portions of his food servings. (Half a banana instead of a whole - if he asks for more, give him half of a half.) I don't think we'll be retuning for a follow-up. She just didn't have anything to say to me that I didn't already know or couldn't have figured out in a 5-minute Google search.


~~~
Today the pediatric neurologist called me at home to discuss the results of the blood work Aaron had done a few weeks ago. I was so impressed that he called me personally to discuss everything. So far (we're missing one test result) everything has come back normal.

He wants to give Aaron three months to continue to develop and then we'll reassess. For now he doesn't want to do the nerve EMG or muscle biopsy. He said we've ruled muscle disease. He said with muscle diseases, 98% of the time you will see elevated muscle enzymes. Aaron's are all normal. And he doesn't have Rickets, either.

This is all good news. But.

He said the muscle weakness and gross motor delays are most likely just a part of his Beals Syndrome. This means that we have a long road ahead of us to get him walking. He does think he will walk, but he thinks it will take continued PT and OT, ankle supports, knee braces, possibly a walker and who knows what else to assist him in walking. I asked him if he thinks Aaron will eventually walk, run, and jump like any other kid or will he likely need some type of assistance always. He said we'll just have to wait and see at this point. I was really hoping to hear, "Oh, he'll just outgrow this all. Give him a year or so." But that may not happen. But then maybe it will. When he learned to roll around the room at age 13 months he literally went from one day not being able to do it and then the very next day he rolled across the room as if he'd been doing it for months. Something just clicked. Maybe that will happen with the walking too.

In other news about Aaron, he has dropped his morning nap altogether this week. It has been quite sudden. He is content to play all morning with Ada and Asher. Most of the days though I do have to feed him lunch at 11:30 (an hour early) and put him down for his nap by 12:30). But I'd say he's down to 15 or 16 hours of sleep a day, give or take, from his typical 18 or 19 hours.

I'm feeling so discouraged today but I am thankful that he doesn't have an underlying muscle disease. I'm thankful that he is getting stronger.

19.5 months
We met with the pediatric orthopedist a few days ago. We now have prescriptions for ankle braces, knee splints, and wrist/thumb splints.

Aaron isn't faring so well at church lately. He is terrified of the nursery staff. We can just walk past the nursery and he bursts into tears. He curls himself around my arm trying to hide behind my back so nobody can see him. Even when I'm holding him and just chatting with adults - particularly women - if they look him the eye or try to talk to him he will try to hide and begin to cry. With men he seems a little better. I think it is because they aren't usually as animated as the women. They are more mellow and low-key with him. But any woman who approaches him with a high-pitched, friendly, "Hi Aaron!" is greeted with sobs. One man, a good friend of ours, tried to say hi to him in a very gentle way. Aaron wouldn't make eye contact with him, but didn't cry either. He did look terribly depressed and sad though. If I take Aaron into the service while the worship band is still playing, he screams and cries some more. The loud sound is just too much for him. He's the first of our three to show this sensitivity. Asher, we always said, never knew a stranger. He loves everyone. Ada would take you or leave you - no big deal to her either way. But Aaron is sooo sensitive. The good news is that he is getting much, much more comfortable with his PT and OT. He is finally familiar with them enough and intrigued by the toys they bring out to consider them more of a friend than a foe.
~~~
I took Aaron in for his weight check yesterday and he is now down to 30 pounds 7 ounces. This means he lost another 5 ounces in the past month. He also grew 1/4". The doctor said he's now at the 90th percentile on weight. So we're headed in the right direction.

The other day he "knee-walked" a few steps. He's also getting much better at crawling on his hands and knees. He still puts his weight back on his hips and scoots, but he's getting faster at it. I think once he gets his new wrist braces he'll be able to bear more weight on his hands. He started pulling to a stand in the past few days again. Once he learned that skill initially the novelty wore off for a while and we hadn't seem him pull up in several weeks, but finally he is starting to revisit this skill.

He is still intensely passionate about his food. If you make the tiniest move that even hints that you might not give him the food he wants he burst into sobs. The look on his face is utter desperation and devestation. This includes when I turn away from him with a bowl or a spoon intended for him and fill it with food. The act of just turning away from him is more than enough to trigger the flood of tears. He is SO emotional at meal time. And it is constantly swinging from devestation and panic to elation and joy and then back again when the food runs out.

He has officially dropped his morning nap nowadays. We wake him up by 9am or so and then put him down for an afternoon nap around 1pm. He'll still sleep until dinnertime most days, but even so, we've gotten him down to about 15 hours of sleep per day instead of 18.

20 months
I took Aaron in this week to have the molds made for his ankle/leg braces. He did really great through the whole process. The doctor was wonderful. We picked out custom colors for his braces. I picked out a cute blue and green dinosaur pattern for the straps with green foam lining the inside of the brace and blue straps of velcro to hold the brace to his foot. He'll have one for each leg. They will probably be ready in about 3 weeks, maybe less. The brace is a two-part deal. The leg part can detach and the ankle part can be worn alone. When Aaron is standing or praciticing walking, we'll use the leg part. Otherwise, he'll have the ankle part of for most of the day. They must be worn with shoes on. We'll have to go out and buy him some bigger and extra wide shoes to fit the brace.

For the knees, the doctor decided to find him a soft "immobilizer" instead of going to a hard plastic splint. He thinks it will much more comfortable for Aaron (he'll be sleeping in these at night) and that the hard kind might be overkill for the amount of contraction we are dealing with. The knee splints should be ready about the same time as the ankle/leg braces.

Our OT came over and took measurements for Aaron's new wrist/thumb splints. We ordered them in a royal blue color. They will go over his thumbs and his palm and down past his wrist. They'll have aluminum "stays" inside them that make them stiff. The OT isn't sure how well Aaron will tolerate them. They shouldn't be uncomfortable but they will be restrictive. They should be ready in a few weeks. He'll be wearing these for as many hours a day as his skin will tolerate, but especially during his active play time.

The PT is expecting/predicting that Aaron will need the ankle/leg braces for at least an additonal 9 months after he starts walking. The PT and the doctor were both very optimistic that the ankle/leg brace is really going to help him be able to walk. I don't know how long we'll need the knee splints. They will probably get his knees out to full extension very quickly (like in a month or two), but how long we'll have to use them to maintain that stretch, I don't know yet. The OT says we'll be using the wrist splints for probably a year or more.



20.5 months
Aaron started swim lessons last week. Ok, not really swim lessons - he's a bit young for that - but rather physical therapy in a pool. Aquatherapy. He's had two lessons last week and he'll have two more this week.

On Day 1 he loved it. He was in the pool for 45 minutes. After 45 minutes he was pretty tired out and was physically trying to climb out of the pool. He was done! On Day 2 he was very excited to get back into the pool, but this time if the PT moved too far away from me (I was sitting at the edge of the pool) he would begin to cry.

He took a few steps while pushing a little push-toy this weekend. It was so exciting to see! He was able to move the toy forward several feet, but walking isn't quite an accurate word. He would step first with his left foot and plant it. Then he would drag/slide his right foot up to his left foot. Then he'd take another step with his left foot, then slide up the right foot. So it wasn't quite walking, but it is progress!



In the past he has been able to stand alone at the toy and has been able to "walk" behind it with a great deal of assistance from us - including us shuffling his feet for him. So this was a big achievement for him.

I was so excited and happy and stunned to see it happening! Abe had the camera and I was behind Aaron. It was a wonderful moment, except for the fact that certain little 5 yr. old girl was whining in the background about something else. Sigh.

Aaron's orthotics are in and we get to pick them up later this week. We're very hopeful that he'll be up and standing and walking on his own with these very soon. Maybe a little too hopeful, but we'll see.
~~~
Yesterday we got Aaron's new night splint. It is a soft, foam orthotic with velcro attachments. It wraps around his leg from about his groin all the way down to his ankle. On the back, in the inside of it, it has rigid (metal?) supports that make it stiff so Aaron can't bend his leg when wearing it. It keeps his leg at extension and give a gentle, sustained stretch to his hamstring and knee muscles, tendons, and ligaments.



He wears it for several hours during his afternoon nap and all night long (about 13 hours at night). We're trying out one splint out for a week and will (if all goes well) be getting a second one in a couple of weeks so we can stretch both legs at the same time. It is a lot easier to get on than the Dynasplint he wore last fall. It is soft and comfy for him. But when we take it off, he seems to have a moment or two of some pain as he contracts his muscle. I tried to gently massage his hamstring yesterday after his nap and he cried in such a way that made me suspect he was in pain. He did NOT want me to touch his leg. I don't know yet if this is "normal" soreness that anyone would have after such an extended stretch or if it is problematic. It is very temporary though. In less than a minute he seems fine. Hopefully the splint will be effective in stretching his legs out such that when he is standing he can fully extend his legs. Extension is only half the battle though. Strength is the other half. Aaron still has hip, knee and ankle weakness that keeps his knees bent when standing.

The night splint should help with the extension half of the battle. The AFO and SMO leg braces he wearing during the day should help give him the stability he needs to stand. Unfortunately, the AFO and SMO actually make you a little weaker because they do the work for your muscles, but for now they said the benefits of the SMO and AFOs outweigh the disadvantages.

Hopefully in another 2 months we'll be much further along the developmental path... stay tuned!

21 months
Yesterday we took Aaron for his follow-up appointment with our pediatric neurologist. I love this doctor. He is so wonderful. And he gave us really good news to boot.

He said he thinks it is a totally "reasonable" goal to hope that Aaron will be walking by Christmas time (age 24 months) in "short distances" - maybe 3 or 4 feet, with the assistance of just his AFOs and SMOs. Woohoo! We were thrilled to hear his agreement on our PT's expectations.

I also ventured into the "predict the future for me doc" game with him asking him if we could fast forward to when Aaron is 4 or 5 years old, what did he think Aaron would be like? Would he be running and jumping and climbing like any other kid on the playground?

His answer? Yes!

Yay!!!!!! He was quick to follow that with, "I can't say he'll be completely normal, but will he be able to run and jump and climb? Yes."

So maybe Aaron will be a little slower, weaker and less coordinated than other 4 or 5 year olds, but so is Ada and she's doing just fine. This was awesome news to hear. In fact, at this point it's really the best news we could hope for. All the "bad" stuff that can cause muscle weakness has been ruled out. With continued physical therapy and just plain old time D should catch up and be just fine.

Granted we still have a long road ahead. We're all going to have to work real hard to get D walking. But we're on the right track. He's making very good progress just even in the past month. He'll get there. And hopefully he'll amaze us all with a few unassisted steps at Christmas time. How cool would that be!?

He did say that should Aaron stop progressing or actually degress then we will need to do the muscle biopsy. We go back in January for the next follow-up.

The other thing we talked about was Aaron's weight gain. He's up to 33.7 pounds. We've seen some more rapid weight gain since switching him from skim cow's milk to soy milk so we're going to try the "light" soy milk and see if that helps. If it doesn't, we'll switch back to the skim cow's milk for now. We're also going to be more diligent about watching his portion sizes. He eats healthy foods but he eats a lot.

Aaron: 16-18 months

Below are snippets from my journal for Aaron when he was between 16 and 18 months old.

16 months

Earlier this week we visited a geneticist for Aaron. First we saw a genetic counselor who took our family history and asked us lots of questions and then we saw the geneticist (and the counselor guy) for over an hour. I was relieved that the geneticist took his time with us and didn't rush us. He has seen a few other families in his experience who have Beals Syndrome so that was helpful to know.

So here is what we learned. The geneticist says that he thinks there is sufficient reason to think that Aaron's gross motor delays and overall muscle weakness (ie. inability to stand, pull to stand, crawl on hands and knees, creep, and so forth) is being caused by something other than the Beals. He said Beals causes contractures of the connective tissues of the joints. It can cause low tone (hypotonia) but given our family history and the history of Beals in general, he thinks the weakness is being caused by something else. He said it might be from the Beals, but he said for now we should proceed as if Aaron doesn't have Beals (he has Beals, yes, but for the purposes of sleuthing out the cause of his muscles weakness we're going to ignore that fact for now and look for other causes) and treat him as any other child with a big head and gross motor delays. And that means he wants to run the tests they would normally do for any child with those symptoms. It's a process of elimination. And it may be that it is just a part of his Beals, but he thinks there are enough reasons to look for other causes for his muscle weakness.

So the first step will be to do a series of blood tests. We'll do them in chunks to make it easier on Aaron and because they can only take so much blood from him at any given time. It's the least invasive way to start eliminating potential problems/causes.

If all those tests come back negative, then he says we should probably think about getting an MRI and that he'd refer us to a neurologist to discuss that more. Our physical therapist seems to think the MRI is a good idea and might give us some useful information. Apparently you can have a normal CT scan, but an MRI can show something that the CT scan can't pick up. If we get to the point of considering the MRI, I'll need to find more about what type of answers an MRI can give us - what exactly they'd be looking for. I know hydrocephalus and tumors were ruled about the CT scan. What else is there? I have very limited knowledge in this area.

A final option (and last resort - and really I can't see actually doing this, but he did mention it as an option) is a muscle biopsy. It's an outpatient surgery where they take a microscopic piece of his leg muscle tissue to examine it and see what its made of. But we'll cross that bridge if/when we get to it. The MRI seems fairly likely in his future since the geneticist is guessing the blood work will come back negative. But he still wants to do them since they are less invasive than putting Aaron under for an MRI.

We're now waiting on the geneticist to fax the orders for the blood work to our family physician. Then we can take Aaron in for the first round of blood work. I'm not sure how long it will take to get results. They said it depends on the test. Some tests are more involved and take a couple weeks. Others are just a few days.

Aaron weighs 28 pounds - around the 75th percentile now and his height has remained constant since birth hovering around the 60th percentile. His head size is shooting up and up off the charts (not just a little but, but way way up). It looks completely alarming when they plot it out on the growth chart. It used to be 60th percentile until he was about 11 months old. Currently he has reached Abe's head size percentile. We'll be watching it closely over the next few months to see if it continues to rise. We're all hoping that he is just following after his dad and that his percentile will now (finally) level off and stay there. It would be so helpful to know if Abe had a big head from birth or if his head size shot up around a year too. But we don't have that info. The earliest record we have is at 16.5 months. His head size was 53cm then (assuming an accurate measurement). Aaron's is 51.5cm. The geneticist said it is most likely that it is benign familial macrocephaly BUT he think we should look into it more since Aaron has the gross motor delay/muscle weakness that Abe did not have. All Abe's mom can tell us is that it was always big as much as she can remember, but apparently no doctor took any notice of it until he was 16 months. I would think if he'd had an unusually large head from the get-go that someone would have commented on it earlier than 16 months, so I think he probably had a similar growth spurt like we're seeing with Aaron. If I am right, that would be good news.

16.5 months

We have the results from Aaron's first round of blood work.  The first half of the first round, which looked at the thyroid and other blood things like blood count, chemistry, etc. (not sure really) all came back fine.  The second half, the part that tests acyl-carnitines and carnitines came back normal for the acyl-carnitines and "a little low" for the carnitines.  So that means he gets to have the test repeated and he gets to have two urine tests. To get urine from a baby this age, you have to use a little collection bag.  Yippie!  Our doctor, requested a day to do some more research on carnitines and to see what he could find about Aaron's increased appetite.  So he'll call us tomorrow and then we'll go in for the blood work and I think we have to go over to our hospital to get the equipment for the urine collection.  Then we'll wait another week or two to get the results back. 

Aaron has gained yet another pound since we saw the geneticist so he now weighs 29 pounds.  He feels very heavy to hold!  He is wearing 18 months - 2T clothes now. He is getting better at army crawling and has pulled himself to a kneeling position a few times.  He can say Daddy, puppy, up, mahmah for more, mama, itty for kitty, nana for banana, dahd for bread, and chee for cheese.

16.75 months

Aaron's carnitine levels were "a little low." According to the doctor it is "borderline significant" and so they are repeating the test (had the blood drawn today) and they are also running two urinalysis tests to see if his body is spilling too much carnitine into his urine.

We'll be able to tell (I think) whether we are dealing with primary or secondary carnitine deficiency from the urine tests. And it's possible his second blood test will show that his "low level" is not significant. However, if it is significant, I think it can be treated with a dietary supplement of carnitine. If that's the case, we might have an "easy" fix on our hands if the carnitine deficiency is causing his hyptonia.

Moving on. They are also running a chromosome test with the blood they drew today. Abe had a normal chromosome test result when he was a baby, but the doctors have told us that a chromosome test in the early 70s and the one they can do today are vastly different. So we'll see if that tells us anything of use.

And finally, Aaron is getting an MRI next week. Everyone seems to think this may give us some useful information. We have to deprive Aaron of food and liquids for 4 hours prior to the MRI and no milk for 8 hours prior. So basically he'll be starving and thirsty all morning until mid afternoon. We have to show up at the hospital 2 hours before the MRI to talk to the anesthesiologist and to go over medical history stuff. They said they will gas him and put a tube down his throat and start an iv. We can't seem him until after he is out of recovery. When Ada had a coil put in her heart a few years ago, I was able to see her in recovery but this is a different hospital and they said no. We also can't be present during the MRI. Grr. It's a bit different than the CT scan. I'm not sure why they don't want us around during it. If something is very wrong, they'll call our doctor right away. Otherwise we should get the results in a couple of days.

In a couple of weeks we should have the results of the blood and urine tests back and hopefully the MRI results. So we should know a lot more then.

Meanwhile, Aaron continues to improve upon his army-style crawling skills and he has successfully pulled himself into a kneeling position at the couch, in his crib, and a play table. So that's good news. He is definitely getting stronger, not weaker, which is very, very good. It's just at a very slowwww pace and he has a lot of catching up to do. His fine motor skills are great though. And verbally, he's added Daddy, puppy, up, hi (usually says hihihihihi), and mohmoh for more to his vocabulary and learned the sign for "please".

Abe and I were out in the backyard last week tossing a football around and Aaron was on the grass sitting nearby watching us. He thought it was hilarious each time we would catch the ball. He would laugh and laugh with delight. Then we started to play catch with him. Abe gently tossed the ball into his lap so he could "catch" it (he'd scream with laughter) and then he'd gently toss it a few inches back to Abe. Sooo cute! And yesterday Asher (age 3) came up with the brilliant idea of hurling himself headlong off the couch just for the fun of it. I was just about to tell Asher not to do that because he could get hurt when Aaron noticed what was going on and found this extremely entertaining. He'd crack up each time Asher hit the floor. Aaron was so amused I couldn't bring myself to tell Asher to stop. Aaron was equally amused at dinner last night when Asher started making "snarfing" sounds each time he put a bite in his mouth. Aaron started to try to mimic the sound too and couldn't have been more pleased. I think these 2 boys are going to have a lot of fun together!

 ~~~

Aaron is sick right now so we have postponed his MRI to the following week. We are still waiting for the results of his latest blood work and urine tests to come back. And we met with a developmental pediatrician this week and she ordered hip x-rays to make sure his hips are all together.

17 months

We got part of Aaron's blood work back on Friday. We haven't heard the interpretation of it yet though so we're not sure what it means. His total carnitine was elevated above normal this time. The part that was "a little low" last time was normal. And last time his total carnitine was normal - this time it was way too high. I don't know what to make of it. Hopefully it is good news. We are still waiting the results of his chromosome test.

Aaron is still sick though a little better. He still has a coughing fit once a night and sometimes during his naps. But when he is awake during the day he doesn't cough too much and his runny nose is less so. Hopefully he doesn't catch the fever that Asher and I had this weekend. I have a feeling that he won't be having his MRI this week, but we'll see.

~~~

Aaron had his MRI.  It ended up being a 7 hour adventure at the hospital from start to finish because the MRI kept getting delayed.  However, in the end it went well.  Aaron was incredibly thirsty and extremely CRABBY when they brought him back from the recovery room.  He downed 2 bottles of water in no time flat.  After an hour he was feeling much better and much happier, but still pretty exhausted.

~~~

We met Aaron's new developmental therapist this morning. She seems really nice. We also had our PT visit this morning.  Aaron took 2 or 3 assisted steps behind a push car. We had to move his feet, but he was able to shift his weight from foot to foot. This is an improvement over the last visit a few weeks ago.

Aaron, 17 months, sitting in a big plastic bowl that our therapist would gently rock to help improve Aaron's core muscle strength and balance.  He liked it!

17.75 months

Aaron took about 3 or 4 crawling steps on his hands and knees.  Most of his weight was on his legs but he's trying!  He also managed to climb up on step that was a shorter than normal stair step.  He was so proud of himself when he got up.  He kept saying, "Up! Up!"  

~~~

Aaron's MRI was normal!!

18 months

I took Aaron in for his 18 month well-baby checkup. He weighs 31.1 pounds (so he officially weighs more than his big brother did at the same age - he is also a mere 4 pounds lighter than his almost 5 yr. old sister!), is 34" long and his head circumference was 51.5cm. We're waiting to hear from the geneticist (hopefully this week) as to the next step. It may be a neurologist visit, it may be a genetic test, it may be a muscle biopsy that he recommends. We'll be seeing a pediatric othopedist later this summer. He has his heart checkup in August. He had his hips x-rayed yesterday and we're waiting on those results. No real changes lately in his gross motor development to report.

~~~

Aaron is one sleepy toddler. He is usually sleeping about 18 hours a day.

Yes, 18.

Here is how those 18 hours are usually broken down:

He sleeps from about 7pm until 8 or 9am each night. (It's 9am this morning and he's still asleep.)

He then goes down for his mega-nap around 10ish (sometimes earlier, sometimes later depending on his morning wake-up time).

He will sleep until anywhere from 1pm to 4pm. Most days I'd say he wakes up around 3pm, giving him a 5-hour nap.

3pm coincides with when Ada and Asher get up from their rest time in the afternoon (1-3pm). So I wonder if he wakes up at 3pm because of the increased noise in the house.

He eats a late lunch, plays for a bit, has dinner with us, plays some more, and then bedtime.

On days when we are out and about and he can't get to bed for his nap in the morning, he will completely crash by 1pm no matter where we are and then sleep until 6pm or so, eat dinner, and then go to back to sleep around his usual bedtime.

This past Friday we had appointments for haircuts in the morning so he didn't get to go back to bed and when we got home we kept him up and fed him an early lunch because he had a therapy appointment at noon. We started his nap at 1:15 but we had to wake him up for another therapy appointment at 3:15. A 2-hour nap is nothing for him. Later that evening we had dinner and ran errands all evening and he didn't get to bed until about 8:30 - very late for him. As a result, he slept until 12:15 the next day when we physically woke him up to have some lunch since he slept through breakfast. There's no telling how long he would have slept if we hadn't woken him up at 12:15.

All 3 of our kids have been big sleepers.  Asher needs the least amount of sleep but still he sleeps a fair amount (about 12 hours at night and usually a 1-2 hour nap in the afternoon). He can miss his afternoon nap and be fine though. Ada (5 now!!) used to sleep a great deal as an infant, but at 18 months she was sleeping about 13 hours at night and taking one afternoon nap of about 2 or 3 hours. After she had the coil placed in her heart to close the PDA when she was 2.5 years old she needed less sleep and had more energy in the daytime. Currently, she sleeps for 12 hours at night and does not take a nap, except on very rare occasions.

One theory I have about Aaron's need for so much sleep is that maybe because his muscles are weak he needs that much sleep to let his muscles recover. We are seeing a pediatric neurologist later this week and we will discuss Aaron's sleep issues with him and see what he thinks. I'm wondering if it might be better for Aaron if I woke him up at lunchtime (noon-ish), let him play for a bit, and then put him down for a second nap, woke him up again for dinner, let him play and then put him to bed. It would hopefully shape his sleep routine into a more normal routine and hopefully also give him more opportunities to play and exercise his muscles durnig the daytime. This mega-nap emerged late this winter. Around 12 months he was taking 2 naps a day. So I believe he is actually sleeping more now than he used to.

Certainly, one would think that the amount of sleep he gets is contributing to his weight gain. I don't feel that he is eating an unusual amount of food. He eats a good variety of foods, does not eat junk food, doesn't drink juice and he's getting very good at communicating when he is all done by signing and when he wants more food. But since he sleeps so much he isn't burning as many calories. And when he's awake he isn't running and climbing like most toddlers his age. Aaron is still army-crawling and scooting up into a kneeling position and standing only when we assist him.

At his 18 month checkup last week he was 31.1 pounds - a full 9 pounds heavier than he weighed just 5 months ago. The doctor said we may have to use calorie restriction if he continues to gain at this rate and he wants him to come in for monthly weight checks.

18.5 months

Guess who is pulling to a stand? Aaron! Hooray! Last night it just all clicked. He pulled to a stand at the couch nearly a dozen times yesterday evening. With each time he was more sure about it and quicker than the last time. On Tuesday he did it for the very first time by digging his elbow into Abe's leg (who was seated at the couch) and pulling to a stand using mostly his upper body strength. Then on Wendesday night we were about to give him a bath and he crawled into the bathroom and then pulled to a stand at the bathtub.

Then later on yesterday evening, just to keep the developmental ball rolling, Aaron also took nearly 5 or 6 crawling steps on his hands and knees!!

All of this follows our big trip to see the pediatric neurologist. The neurologist was great. He spent well over an hour with us, asking lots of questions and taking a look at Aaron. He even took time to review all the files and documentation I brought along.

So this is what we learned.

No more whole milk. We need to keep Aaron's weight under the 50th percentile so as not to exacerbate his muscle weakness. Aaron weighed 31.7 pounds yesterday which is the 97th percentile. So out goes the whole milk. He has also referred us to a local dietician to discuss the weight loss issue further. Never in a million years did I think I'd be putting a baby on a diet! He isn't fat. He is chubby. He is 34" long. He's huge, but not fat. Part of his weight is accounted for in his giant head size. They measured his head at 52cm yesterday. But at any rate, the weight gain (which corresponds with our introduction of whole milk) is making his muscle weakness worse. Basically, Aaron has more of himself to haul around. The heavier the load, the harder the work. Since his muscles are weaker than normal, he can't afford to weigh this much.

No more 5-hour naps. We are supposed to wake Aaron up from his morning nap after 1-2 hours in the morning, let him play, have lunch, play a bit, then have an afternoon nap and wake him up for dinner. Basically, wake him up to train his body into a more regular sleep pattern and to provide him with more hours in the day to play and exercise his muscles and burn some calories.

More blood work... possibly. There are several (10 to be exact) blood tests that the doctors wants to run on Aaron. I'm pretty sure we've already done at least some of them. If we have then we already know that the results were normal. If we haven't, then Aaron is in for a blood draw and we're in for several weeks of waiting for the test results to come back. One thing he wants to rule out from the tests is Rickets. It's possible that for some reason Aaron's body isn't able to properly digest the calcium he needs. He top fontanel is quite open. Muscle weakness is also a sign of Rickets. The good news, if it is Rickets, is that it is highly treatable.

Nerve EMG. If all the blood work comes back normal (or has already been done and is normal), then he wants to move ahead to a Nerve EMG.  Because of Aaron's age, they would have to completely put him under. But this test would be less invasive than a muscle biopsy since there is no cutting involved. If we need a muscle biopsy, that would also mean completely putting him under. That'd be 3 times (because of his MRI in May) in a very short (I think) window of time and that makes me uneasy. If the nerve EMG is normal, however, we won't need to do the muscle biopsy.

Overall, the doctor thinks that the muscle weakness is probably just a "normal" part of the Beals spectrum. That would be the complete opposite of what our geneticist told us. So who is right? He did say that he thinks Aaron will be walking, if he continues progressing at the rate he's been going, by Christmas. That would be a wonderful Christmas present to see my baby walking!! He does think we should increase the physical therapy. He does think we should visit the pediatric orthopedist as planned next month. He does think we should wait to put Aaron under for any procedure until after we've visited the pediatric orthopedist becauce apparently the orthopedist may want to do his own tests/procedures that could involve sedation.

So today I need to call our family doctor and find what blood tests were already done. My head was whirling by the end of yesterday's visit, but I'm celebrating the fact that Aaron was pulling to a stand last night!

~~~

Five pounds.  That's how much Aaron needs to lose to get back down to the 50th percentile on weight. At least that is my interpretation of the growth chart for boys ages birth to 36 months.

Five pounds doesn't sound like a lot to me, but I weigh a wee bit more than 31 pounds.

And really, since I imagine they won't want him to lose his weight too quickly if he were 21 months old, he would only need to get down to 27 pounds to be at the 50th percentile - so that's only 4 pounds to lose (assuming he doesn't gain any more).

~~~

Aaron crawled up the stairs by himself for the first time on July 1! Go Aaron!! He was shaking by the top and breathing hard though. He really pushed himself to his physical max to do it, but he was determined. It was great to see him figuring out how to move his legs and arms in the right order to accomplish it all.

He has also pulled himself to a stand now at the lazy boy chair more times than I can count, in his crib twice, and at his little leapfrog table once.

With the leapfrog table, once he stands up, he can't just stand there. He bends over the top of it, using the table for a great deal of support and stability. Most kids would probably pop up and just stand there and play with the buttons and such on the top of the table. And wherever he stands he stands with his legs bent.

Since Aaron is suddenly figuring this whole pulling to stand and crawling up the stairs stuff, I think his legs must be getting stronger. So I think our focus will shift to getting his legs straight now. We'll see what our PT says soon.

Tomorrow is our visit with a nutritionist. Aaron had more blood work done this week and another urine test. As a result he has one major bruise on one arm and a minor bruise on the other arm. :-( The big one is pretty bad. He kept looking down at his arm and crying on the first day. It'll be a few weeks before we get the test results back.

~~~

For the past two nights, Aaron has been waking up a few times a night crying. We're not sure what is going on. It could be molars coming in. It could be hunger. A couple ounces of milk soothes him. We've cut down a tiny bit on his portion sizes but not a ton. We have switched off whole milk for over a week now. Maybe he is just hungry?

And now during the daytime, after these restless nights, he is one crabby, cranky baby. I miss my sweetheart! He was throwing a fit for no discernable reason today at the hardware store. He was literally swinging his arms at me. This is not normal behavior for him. So we know he's tired. Maybe his teeth are bothering him. Maybe he's hungry. I don't know. Yet. But I do know I want my sweet little boy back!