Riley Moon

I took this picture because right before this Riley looked at me and said "Mom, I look funny."  And then she laughed.  

I've resolved that there will always be something to talk about with Miss Moon's heart.  It's always going to be doing it's own thing, much like Miss Riley.  For now it all looks good.  Of course, it's still beating in reverse.  That was explained in more detail here: Miss Riley Keeps us on Our Toes.  

She had to wear a monitor again, and while her heart beats inefficiently, everything else about her heart looks good.  This time, Riley did not like wearing her monitor though.  Matter of fact, she rather hated it and asked over and OVER AGAIN if she could take it off.  

Miss Riley Keeps Us On Our Toes

Right after her dance class.  She's wearing a 24 hour monitor.  

Riley recently had her annual cardiology appointment, which revealed something new about her little heart.  She has an accelerated junctional rhythm.  This definition here, pulled from Wikipedia no less, is the simplest and plainest breakdown I've found so far:

Junctional rhythm describes an abnormal heart rhythm resulting from impulses coming from a locus of tissue in the area of the atrioventricular node,^[1]the "junction" between atria and ventricles.

Under normal conditions, the heart's sinoatrial node determines the rate by which the organ beats - in other words, it is the heart's "pacemaker." The electrical activity of sinus rhythm originates in the sinoatrial node and depolarizes the atria. Current then passes from the atria through the bundle of His, from which it travels along Purkinje fibers to reach and depolarize the ventricles. This sinus rhythm is important because it ensures that the heart's atria reliably contract before the ventricles.

In junctional rhythm, however, the sinoatrial node does not control the heart's rhythm - this can happen in the case of a block in conduction somewhere along the pathway described above. When this happens, the heart's atrioventricular node takes over as the pacemaker.^[2] In the case of a junctional rhythm, the atria will actually still contract before the ventricles; however, this does not happen by the normal pathway and instead is due to retrograde conduction (conduction comes from the ventricles or from the AV node into and through the atria).^[3]

Junctional rhythm can be diagnosed by looking at an EKG: it usually presents without a P wave or with an inverted P wave. Retrograde P waves refers to the depolarization from the AV node back towards the SA node.^[4]

So what this means for us, right now, is watching how this plays out.  From our end, we'll monitor Riley and contact her doctor if she begins to tire easily, experience dizzy spells or anything else that indicates her heart is working too hard.  Everything else about Riley's heart looks great, which is good news for us.  And this could be something we don't ever have to fix.  We just don't know right now.  We do know that we trust her cardiologist.  So when he said "Let's just watch it and see what happens" David and I are happy to agree.  

What it's like: having a child with Russell Silver Syndrome

I could get really scientific, and tell you that Riley has a methylation of her 11p7 chromosome but that probably doesn't help you understand anything about Russell Silver Syndrome.  So I'll start about a year ago.  I always thought after Riley had her heart surgery that she would have this big growth spurt, and catch up to where she was supposed to be, for height and weight.  Well that never happened.  At first, her pediatrician and her cardiologist just said they thought Riley would be petite.  The months went by, and Riley started missing some of her developmental milestones.  Again, everyone said "She had heart surgery, we would expect some delays." 

She didn't sit up, unassisted until she was 8 months.  By 12 months, she was still not crawling, and was still very small.  So I began to press for answers.  I just wasn't satisfied with the "she's recovering from heart surgery."  It started in August.  I started at a pediatrician.   From there, we got in to see a physical therapist.  We also started to see a pediatric gastroenterologist.  The GI recommended we see a genetic counselor, and the pediatrician agreed.  So we went to see a geneticist.  For months, we had appointment 4 days a week.  Riley was poked and prodded beyond belief.  She was also scoped during this time.  She had x-rays to check her bone age, her growth hormone was checked.  She had stool samples and urine samples.  We also kept a food journal, to determine how many calories she was consuming.

And we learned nothing.  Except that she consumed more calories than the average child of her age.  If you've ever spent a day with Riley, this was not a surprise to you!  Everyone agreed that there was a problem with her growth, but they couldn't figure out what.  They continued to go back to putting her on a high calorie diet.  Developmentally, we began to see improvements working with the physical therapist.  

You see, Riley is VERY flexible.  And will be for the rest of her life.  She doesn't have hip dysplasia, but she can rotate around her legs, just like you can rotate a barbie doll's torso without much leg movement.  See the picture below.  Well Riley can flip her legs in front or back or back her by simply following through from the position you see here.  It's rather incredible.  

She wore these shorts for months: hip helpers.  The crotch is sewn together, so she couldn't do her crazy leg movements.  She can still do her crazy movement now, she's just out of the habit.  But every once in awhile, I catch her on the floor and see her flip her legs in back of her.  This picture was on of the first times she pulled herself up.  She was 14 months old here.  

In October, Riley had an endoscopy.  When I went to receive the results, the GI seemed stumped.  He apologized, because he could not figure out why Riley wasn't growing.  He wanted to put Riley on a high calorie diet, to see how she'd respond to it.    Before I left the appointment, the GI asked if the geneticist had ruled out Russell Silver Syndrome.  I said "I don't know, should I ask?."  He wanted me to ask, even though he thought the geneticist had probably already ruled it out, but he knew it was a genetic disorder that affected growth.  In the meantime though, he wanted the high calorie diet.  The next day, we had an appointment with the geneticist.  I asked about the Russell SIlver Syndrome, and he had thought about it, and ruled it out, due to a lack of physical markers.  However, like the GI, they had no answers for me and decided to run the test for it.  It would take 4 weeks to get the results.   

It didn't end until the very end of November.  I received a call from the genetic counselor at Rush Hospital to confirm that Riley had Russell-Silver Syndrome.  She commented that she was glad they had decided to test for it, even though they believed she didn't have it.  So I began to read about what that meant for our family.  I really hadn't researched it yet, because we've learned how easy it is to become consumed with something, from Riley's previous medical conditions.  

Russell Silver Syndrome is the "specific alteration, to include depletion, duplication, insertion, substitution or imprinting error within the code of a specific gene located at a specific site in an individual's genetic code."  Riley's mishap is located within chromosome 11.  During conception, a part of this chromosome didn't get activated.  The syndrome carries a slew of complications: 

body asymmetry 

inadequate catch-up growth in first 2 years 

persistently low weight-for-heightlack of interest in eating 

lack of muscle mass and/or poor muscle tone 

broad forehead 

large head size for body size 

hypoplastic (underdeveloped) chin & midface 

downturned corners of mouth & thin upper lip 

high-arched palate 

small, crowded teeth 

low-set, posteriorly rotated &/or prominent ears 

unusually, high-pitched voice in early years 

clinodactly (inward curving) of the 5th finger 

syndactyly (webbing) of the 2nd and 3rd toes 

dimples in the posterior shoulders and hips 

narrow, flat feet 

scoliosis 

fasting hypoglycemia & mild metabolic acidosi

generalized intestinal movement abnormalities

blue sclera (bluish tinge in white of eye)

late closure of the anterior fontanel (soft spot)

frequent ear infections or chronic fluid in ears

congenital absence of the second premolars

delay of gross and fine motor development

delay of speech and oral motor development

kidney abnormalities

delayed bone age early, later fast advancement

early pubic hair and underarm odor (adrenarche)

early puberty or rarely true precocious puberty

classical or neurosecretory growth hormone deficiency

ADD and specific learning disabilities

A little over a month ago, we got in to see a geneticist here in North Carolina, at Duke. The move from Illinois back to North Carolina put a slight delay in seeing a geneticist about this condition.  Russell Silver varies in severity, and we are so happy to say that Riley has a mild form of it.  Meaning we shouldn't see any learning disabilities.  She'll be shorter than average, but she should be bigger than dwarf size (RSS is a form of dwarfism).  She'll always eat all day long.  We'll continue to see some gross motor delays, but she should develop.  She'll just continue to develop on her own track, 6 to 12 months behind average.  For David and I, it's the best news we could've gotten. 

We made it 8 months

Until yesterday, I had no idea what croup really was.  I thought it was a nasty cough.  It's a little more than that though.  With Riley, it means a fever over 103.  It also means no appetite, unhappy, not smiling, very drooly baby.  She woke up in the middle of the night and she felt warm.  When she woke up at 7, I took her temp and it was just over 101.  So I gave her some tylenol.  She also had a really nasty cough, and though I had never been exposed to croup, I suspected it.  And her fever went up.  So I called the pediatrician and she said to alternate Tylenol and Motrin.  She also told me they had seen a lot of croup going around, so if her congestion didn't go away when her fever down, then I needed to take her to the ER.  

David and I chatted.  We would try and make it through the night, and head to the pediatrician's office today.  This is how Riley spent the day, when she wasn't cuddled up against David or I.  We did shower and keep her in the bathroom, breathing in the steam.  At 2, her fever was just under 103 so I gave her some Motrin.  An hour later, her fever had not gone down, so I gave her some Tylenol.  

I took her temperature again at 500, and it was 103.2 .  That's when I decided we needed to take her in to the hospital.  

It was a relatively quick trip for us.  We went straight back, once we got there.  It took less than 10 minutes for the doctor to come in.  They decided to give her a breathing treatment and steroids.  Her fever still hadn't gone down, but there wasn't must that could be done about that.  After they gave her the breathing treatment, they wanted to monitor her for a little while, which was the bulk of out time at the hospital.  She was pretty pitiful at the hospital.  She had fever chills and tremors.  She would fall asleep, then wake up and cry until she fell back asleep.  They took her temperature right before we left, and it had gone down, to 99.9.  

I also learned a lot about croup.  The ER doctor was super friendly and explained that it is actually related to the influenza virus.  And adults know it as laryngitis.  The airway in the throat become inflamed.  When an adult's airway becomes inflamed it's not that big of a deal, because of the size of our airway.  However, an infant's airway is much smaller.  So when it becomes inflamed, it cause a lot more stress on their body.  

On the way home, we stopped and got a cool mist humidifier for the girls' room.  It helps with the croup symptoms. Riley's fever returned before she went to bed, but she refused to take any medicine.  We tried for 15 minutes or so and she vehemently she her head no.  We expected a rough nights' sleep but I got up this morning after having slept through the night.  I can hear her moving around and making whimpering noises every once in awhile.  Sounds like she had a restless nights' sleep, but at least it was uninterrupted.  Hopefully, her fever will have subsided when she wakes.  

My New Years Resolution was no hospital trips for 1 year.  Of course, that went out the window in February, when Riley had a four night stay.  However, we made it 8 months.  I think that's the longest stretch in the last 4 years.  Now that's something to celebrate!    

Searching for shoes

Now this may seem strange but this is where my search began.  You see, Riley needed shoes with a hard sole.  This proved to be very difficult because of Riley's small size.  Shoes for Riley's feet were soft soled.  I had visions of paying a lot of money for shoes for her.  However, the therapist believed that shoes would keep Riley out of braces, which makes me happy.  I looked online and in stores.  I even had Kelly and Lori searching.  

Last Friday David and I went to a high end mall in the area; Oakbrook Center.  His thought was we might find some shoes for Riley there.  So we started at Stride Right, which got us no results.  So then we decided to hit up some of the major department stores.  

We scored at Nordstrom's.  They're little boy shoes, but they have a sole!  The sales lady offered to order some in girl, but I don't care about having pink shoes.  I do care about getting her in shoes as quickly as possibly.  So we took them home, having spent less than I thought.  

You can already see how she's correcting her foot.  And she does it when the shoes are off as well, just not for long.  So she's in her shoes as much as possible.  

Sweat Test

Part of our exciting medical run around: 

These little things collected her sweat.  The blue you see is her sweat.  She hated the whole procedure.  As soon as they swabbed her arm to clean it, she burst into tears.  

This lead to Hannah crying.  She was scared for Riley.  It was a mess, but we pulled it together pretty quickly.  

I think she's figured out that swabbing comes before shots.  

The whole ordeal lasted about an hour and a half.

The test was done at Loyola University Hospital, where we received fantastic service. The campus reminded me of Duke.  Everyone we encountered was ready and willing to help.  At one point, Riley was taking cereal out of her cup and throwing it on the floor.  I shook my head and the lady at registration smiled and said "Don't worry, people have thrown much worse in here."  I'd go back there for sure.  

Why the break?

Cause life has been crazy! Right now, Riley's going through more medical problems. In short, she eats a lot and doesn't grow. So we're seeing lots of specialists to try and figure out what's up with that. I'm actually turning in a food diary for her next week for a dietician to go over. And she's behind in her gross motor. So she receives physical therapy for that a few times a week. In the next couple of weeks she'll go through a variety of tests to rule our some different things. See those red shorts? Those are her special shorts, designed to keep her legs together, otherwise she'd be doing this crazy split thing. Therapy is physically demanding but productive. On Friday, she stood, unassisted a few times, once for about 30+ seconds. Other than those two things, Riley I a happy, fun loving baby. She says a handful of words, loves to swing and play with balls. She loves Hannah so
much, and Hannah showers her with attention. There's lots of other stuff too, but I'll save that for another post! Maybe. ; ). By the way, I'm trying out Bloggers new mobile app. I have no idea how this will look when I hit publish.

This is Riley's crazy contortionist move.  Well, one of them.  

Standing unsupported!!!  Those shorts are called hip helpers.  They're lycra and the crotch is sewn together, forcing her legs to stay together.  

A swing a therapy.  It's blurry, it's a long and narrow sling swing.  She loves it! Heck, I think I'd love it.  

Another swing at therapy.  We work alot on her abs and core.

I love this picture!  This is a big ball pit and the balls are made out of tempura-pedic foam, so they're stiff and it's hard to move around in this ball pit.