Monday, September 28, 2015

Urology, Oliguria and Happy 6th Birthday, Ellie!

About 3 weeks ago I left off with the results of Ellies MRIs, Renal ultrasound, and blood work results - all to look at why she isn't regaining weight even with the appetite stimulant, why she isn't peeing, why she isn't pooping, and why she doesn't breath at night  -  ah, basic life functions going haywire.

Funny thing here, when Ellie was born and we learned that she had Down syndrome, I immediately worried about her heart.  After all, it is said that up to 50% of kiddos with Ds can have a heart condition.  Well, Ellie did have a hole in her heart.  A small one.  Not real exciting.  Closed at a year old.  That was that.  Never did it cross my mind that Bear would have a whole slew of health issues completely unrelated to sporting an extra chromosome (well, aside from the sleep apnea which tends to be more common in people with Ds).

These two turkeys crack me up!

So. . . not peeing.  I would LOVE to tell you how Bear's urology appointment went only she hasn't been seen!

Brief history:

Ellie is not potty trained.  She is not purposefully holding onto urine and refusing to void.  She is not secretly peeing in the toilet without us knowing.  She isn't leaking small amounts of urine into her diaper.  She never acts like she has to go, but will occasionally have to "push" to pee, usually after 20+ hours.  She is peeing once every 21 - 24.5 hours.  She is peeing at an average rate of 0.7 cc/kg/hr.  Normal urinary volume for a child her age/size is 1-2 cc/kg/hr.  So, she has decreased voiding frequency and decreased urinary output (oliguria).  Not horrendous, but not normal.  Failure to void on a regular basis can lead to urinary tract infections [UTI] and can also cause urine to back up into the kidneys and cause damage.  So not peeing for 24 hours is sort of a problem.  Not to mention uncomfortable.  I am doing the potty dance right now just thinking about it.

Her renal ultrasound was performed under sedation on 9/4 after 20 hours of not peeing.  Her bladder was moderately full.  Her kidney anatomy was normal.  Her right kidney is 1.1cm larger than the left.  It isn't uncommon for one kidney to be larger than the other - usually the left one, but the right can be normal too.  Now the size differential may be statistically significant since it is >1 cm size difference. Also, the good news is that her kidneys have grown since a previous ultrasound.

"Hi everyone!"

Ellie's BUN  and Creatinine levels were normal - blood work that measures kidney function.  Her spinal MRI, ordered by her GI specialist, was also normal.  This ruled out tethered cord as a cause for her constipation and urinary issues. We were referred to urology on 9/9/15.  Austin is and has been having a huge growth in population.  Lots of young adults and young families are flocking to the Live  Music Capital of the World or Silicon Dessert.  Unfortunately, the number of pediatric urologists have not caught caught up to this population boom.  There is 1 pediatric urology clinic in the Austin area.  This clinic has 4 doctors.  Two of them work with voiding issues.  When I call, just to talk to a scheduler "you are caller # 1" is 17 minutes average on-hold time.  SEVENTEEN!

Anyway, I finally talk to a real live person and I kind of flabbergasted her when she asked what we needed the appointment for.  I know a lot of key words - see early paragraph about "brief history".  Spouting off kidney sizes, history of Ds, failure to thrive, GI issues, urinary output kind of startled her.   She connects me to a nurse.  The nurse then goes "let me see if one of our urologist can access Ellie's ultrasound because we are booking in November and I don't think she should wait that long".  I was told I would get a call back.  I never did so I followed up myself.  They created a chart for Ellie and in her chart it says that the urologist wants to see her in 2-3 weeks.  I am told that they will call with an appointment.  They never did.  Notice a theme?  As it turns out, when they say they want her seen in 2-3 weeks and that she shouldn't wait, it means that they are NOT squeezing her in but rather adding her to a rather long wait list that anyone can be added to.  It also means that nearly 3 weeks have passed and she has still not been seen.  Her current appointment is for November 30th.  Over 2.5 months from the time of my first phone call.

Ellie was so excited about the cake. . . until Andrew took away the remainder of the cake.  Apparently, Chunky Chicken though that she would get to eat the ENTIRE cake and not just one piece.

To say I am peeved is a bit of an understatement.  What kind of practice is this???  I am not ignorant of how things work in the medical field.  I used to work as a pediatric ENT nurse practitioner in Philadelphia where our first available was over 4 months out.  I was the one who would work certain new patients with complex medical issues into the schedule.  Overbook appointments because some of these kiddos couldn't wait the 4 months.  Discuss with the doctor and make sure the patient was seen.  Being a squeaky wheel doesn't see to be working either.

Again, these two crack me up.

So what now?  We wait and wait and wait.  She finally gets seen at the end of November only for the doc to order tests.  Like a VCUG or something along those lines.  Then we wait to get scheduled for that and then wait some more for the follow up.  At this rate, the poor kid will have damaged kidneys.  Right now, I am trying to come up with a plan of action which will involve enlisting the help of Ellie's pediatrician.  I just feel so helpless.

Okay, I am done complaining.  Nothing is accomplished by ranting other than me feeling a bit more sane!  The pictures in this post are from from a small birthday celebration that included Bear's best friend and a few family members and close family friends.  It was a great deal of fun and I know that Bear got a kick out of the Mickey Mouse cake.

Happy 6th Birthday, Ellie Bear!

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Wednesday, September 9, 2015

Results of Ellie's MRIs, Ultrasound, and Blood Work

Last Friday, Ellie had a battery of test run at the Children's Hospital - to learn more, click here.

MRI of the lumbar spine = normal (Yay, no tethered cord!)

Renal / Bladder Ultrasound = normal (Yay, no kidney problems!)

Cine MRI for sleep apnea = awaiting results

Routine blood work of CBC, metabolic panel [this also shows kidney function], Thyroid panel, and vitamin D = normal

Weight Gain since starting predication = possibly 3oz give or take a few

Explanation for why this child is only peeing once every 19-24 hours = unknown

Explanation for Ellie's crazy GI issues = unknown

Do you see that the Princess Bear lost her first tooth?!

Ellie's pediatrician has recommended that she be evaluated by a urologist. I have been in touch with the only pediatric urology clinic in Austin and the first available appointment is in November. I think the scheduler was a bit flabbergasted when I explained what the appointment was for because she then had a nurse talk to me. I am pretty sure it was when I said "Ellie has decreased voiding frequency to one every 19-24 hours at a rate of 0.7 cc/kg/hour" that did it. . . The nurse then said "she really seems to have a lot of things going on so I will talk to the urologist and see if we can fit her in earlier".  I am waiting for a call back. What do you want to bet that some of this is related to her constipation and Periactin? Or maybe she is just being a urine withholding toot?

I also put a call into the sleep clinic and am waiting to hear back as we are trying to move up her follow up appointment (it is in December). The MRI results will be discussed at this appointment.

Debating on taking a vote on what Ellie's GI specialist will do given her lack of weight gain and GI issues. All in all, I am relieved that there is nothing wrong with my precious baby girl, but frustrated because we still don't have answers. Lack of answers means we don't know how to help my Bear.

So now. . . . we wait. . . 

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Thursday, August 27, 2015

An Overall Update - failure to thrive, kidneys, GI issues, sleep apnea

I cannot believe that it has been over a month since I last updated the blog.  Things have been chaotic over here so I am going to just pump out a big fat update.  Normally, I like to add in a lot of cute pics, medical photos, and lots of resources, but I will skip that for now.  Forgive me?

Obstructive Sleep Apnea:
Operation CPAP has been a massive fail.  Am I shocked?  Nope!  We had a sleep clinic appointment back in July to discuss options.  I consulted with a sleep tech who works specifically with getting children to wear their  CPAP face masks.  We made sure that the mask was adjusted properly, but I pretty much had to restrain Ellie the entire time.  The doc witnessed the huge fit that Ellie pitched when I attempted to bribe her to wear place the mask over her nose.  I considered it a HUGE success that she actually wore it for an entire minute in clinic.  The thing is, Ellie wore it more when we first started this CPAP desensitization and she has become progressively more frisky and clever at yanking it off.  Did I mention that this is just the mask?  As in the mask isn't hooked up to the machine and the machine turned on?  Oh I didn't mention that?  In speech therapy a month ago, we were able to get her fully hooked up with the machine on for 10 seconds - with us holding her hands down and her crying.

At this point, we are waiting for her to undergo something called a Cine MRI while under sedation.  This MRI will look at the anatomy of her upper airway and how it works while she is sleeping.  We will use these images to identify what structures are causing the most obstruction.  From there, we will determine what type of surgery will best alleviate her sleep apnea.  Sounds like fun!

My "baby" started Kindergarten!

Weight and Failure to Thrive:
When we last left off, we were starting Ellie on an appetite stimulant.  Can I just say that on day 5, things started to happen.  I have never ever seen a child each so much!  Ellie's starts eating dinner at 4:30pm and will continue to eat until 7pm.  She is back to eating breakfast, now lunch, and occasionally a snack. Her current breakfast is what she used to consume in an entire day.  I do not know where she is putting it all.  Like a bottomless pit.  Human garbage disposal.

Because of her hunger, we are now able to get her to try new foods.  She has always been a picky eater and that includes freaking out over different foods intermingling with each other - like having icing on top of her cake.  Or pretty much having something other than Nutella touching bread products.  So I about passed out from shock when she stole my healthy spaghetti bolognese, and just chowed down, I was shocked.  Different foods of different textures all touching!

This past Monday we went in for her well child check. Even though she has been eating like a teenage boy going through a growth spurt of the past 6 weeks, she has not gained any weight.  Not even an ounce and her height has stayed the same.  I was shocked.  She is eating so much and I thought that her face looked much fuller.  So she still has not gained back all the weight she lost back 15 months ago, BUT she isn't losing any weight so that is something.  I am still placing the blame at whatever is going on with her GI tract.

GI Issues:
When will it ever end!?  The basic update is: we still can't get a handle on it.  She is still requiring lots of intervention which also include enemas.  I am frustrated.  Andrew is frustrated.  The pediatrician is frustrated.  In fact, her pediatrician is so frustrated that she called Ellie's gastroenterologist herself.  At every visit, for the past 15 months, her GI doc has said "if she doesn't gain weight, then we will do an upper GI to officially rule out celiac".  We have had 4 visits since then and quite a few phone calls - each time Ellie has not gained weight and each time he has delayed the upper GI.  After speaking with the pedi on Monday, he has decided to rule out tethered cord (abnormal attachment of the distal portion of the spinal cord to surrounding tissues ordering) by ordering a MRI of the spine.  Unfortunately, due to scheduling issues at the imaging center, they are not able to do the spinal MRI the same day as her Cine MRI.  I seriously doubt she has a tethered cord as she does not exhibit any other symptoms such as dimples or hair patches on her lower back, weakness of her legs, or obvious changes in her gate, but it is important to rule these things out.  She does have signs of urinary retention (more on that later) and of course the GI issues.

Now this all brings me to my next topic:

Decreased Urination:
Ellie hasn't been what one would call a "frequent" urinator in the past couple years.  She has been able hold her urine for 4- 6 hours for ~ 2 years. Then the time between voids grew farther apart.  Last year, for instance, she would pee 2-3 x during the day and then over night.  When she did urinate, it was huge.  She as having to wear nighttime pull-ups during the day because of her adult-sized bladder.  The past 3 weeks, however, things have changed.  She has been waking up dry.  I thought this was a huge potty training milestone.  Basically, she is now peeing once very 18-24 hours.  She may pee at 4pm and then not pee again until 12 noon the following day.  When she does pee, it is a fair amount.  As in it fills up a diaper.  She will be 6 years-old in a few weeks.  She drinks plenty of fluid for a 30 lb kiddo.  She should be peeing much more.  More in terms of both frequency and in volume.

She is signing "school" and "dance".  Someone was excited for her first day!

I brought this issue up with Ellie's pediatrician.  Ellie isn't potty trained so I do not believe this is an issues of 1. her going and not telling us or 2. holding her urine on purpose.  It is most likely some urinary retention caused by either one of her medications or by constipation rather than a kidney issues.  However, it is important to assess her renal function.  So in addition to Ellie's annual CBC and thyroid panel, we are adding in lab work that will look at her kidney function - think BUN and Creatinine.  A renal and bladder ultrasound has also been ordered.  I know from a previous abdominal ultrasound back when Ellie had her weird clay-colored stools that her kidneys are small for her age (but not necessarily small for someone her size).  The good news is that this ultrasound can be performed the same day as her Cine MRI.

So how's that for an update?  I hope to report back more late next week with regards to the cine MRI and ultrasound.  Until then, fingers crossed that we get her spine MRI on the schedule soon!

More on Ellie's GI Issues:
Sitzmarker Study and Delayed Colonic Transit.
Stomach Issues, Surgery, Anorectal Manometry

More on Ellie's Sleep Issues:
Sleepless in Austin
Polysomnography, Sleep Study Results, Obstructive Sleep Apnea and other things
CPAP for Obstructive Sleep Apnea
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Wednesday, July 15, 2015

What happened to my Chunky Chicken?

Those of you who were following The Chronicles of Ellie Bellie Bear "back in the day" know that my Ellie was and still is affectionately referred to as "The Chunky Chicken".  She came by this nickname because she was, well chunky.  She had delicious rolls of fat.  My wee little, chubby, sweet cheeks Ellie Bear.  Thighs that you could just munch on.  My Bear was CHUNKY!

Don't you just want much on those cheeks???

Rolls of baby fat!

As with all children, the fat tends to melt away as they grown in height and age.  The baby face disappears.  Usually, the big belly follows, but in the many cases of those with low muscles tone and Down syndrome, the buddha belly is a permanent accessory through adulthood.

Now, my Chunky Chicken has skinny little chicken legs and skinny, little bony chicken wings for shoulders.  Her upper ribs are sticking out of her chest.  She is "chunky" chicken no more.  My almost 6 year-old daughter barely weighs 30 lbs and is in 3T-4T clothing!  She is pretty much wearing the same clothes that she wore last year except for a few items that are now too short.

No more baby face as Ellie is now a "big girl"

Growing up, I was always a skinny little runt.  I barely registered on the growth chart for both weight and height.  So it would have been no surprise if my own daughter was a bit on the petite side.  For Ellie, she barely registers on the growth chart (typical and Ds chart) for weight and is around 70% for height on the Ds growth chart (okay, she is now 50% on height).  She wasn't always that tiny.  Over the past 12 months, I have watched her weight plummet and then has super tiny growth spurts of gaining a few ounces, dropping a few ounces.  I know that I blogged about this last year when we were dealing with GI issues.

This is a Down syndrome growth chart for girls ages 2-18 years
You can see that she has fallen off and flat lined this past year with her weight.
For her length, the velocity of growth is decreasing and she fell from 75% to 50%.

How her numbers look on a typical growth chart [ Right] as well a calculation of her weight:height ratio [Left].
As you can see, the Ds Growth Chart gives a more accurate portrayal on where she falls within peers her age who also have Down syndrome.

The GI issues haven't changed much other than there have been no new hospitalizations related to constipation (a huge success in my book).  She has a few good weeks of regularity followed by either explosions running down her leg into her boots (we have gone through more pairs of shoes this way) to then 4-9 days of being completely blocked up.  That being said, when she does go a while without a bowel movement, we have seen success with either 2 suppositories or 2 nights of enemas vs. the usual 3 enemas or hospitalization.

The thing is, girlfriend eats.  She is chowing down on a croissant with Nutella in this pic.  Now she may not eat much compared to another child her age, but she is eating more than she was a few months ago.  Actually,y she ate a ton a few weeks ago while visiting my parents and a tried several new foods so I was pretty shocked to learn that she only gained 2 ounces in the past 6 months.

The thing is, 15 months ago when things were really bad, she didn't lose any weight.  July of last year was like a light switch went off.  Ellie had anorectal manometry under anesthesia to rule out Hirschsprung's (which she doesn't have) and then didn't go for 9 days.  In one week, she lost 1.5 lbs and then continued to drop through September, reaching 28.5 lb (original weight 32.5).  With us diligently staying on top of her constipation, implementing various feeding techniques, and trying to add calories to her diet, Ellie's weight has finally crept back up to 30 lbs.  However, we learned at her follow-up GI appointment last week that she only gained 2 ounces since her last office visit . . . 6 months prior.  This is frustrating because Ellie is actually eating more (still not as much as a typical 5-6 year old) - both in quantity and in variety of foods.  Because of this, Ellie gets to keep her Failure to Thrive label and we are starting her on Periactin.

This is how Ellie's BMI falls on the pediatric chart.
I have no idea if there is a BMI chart specific for individuals with Down syndrome.

I knew that Ellie was thin, but she was always wearing t-shirts or dresses and with her buddha belly, she never looked terribly skinny.  So, I never truly realized how bony she was until I snapped this pic of her in a halter top.  Granted, she is running and moving her arms back-and-forth which I believe accentuates her boniness.  

Periactin or Cyproheptadine is a type of antihistamine that also has anticholinergic properties and an affect on serotonin.  So yes, it is used to treat allergies, but it also has great success in the treatment some psych related issues such as serotonin syndrome and also treating in pediatric migraines.  One side effect to Periactin is weight gain.  It is considered to be an appetite stimulant for people who have poor weight gain.  We have discussed this med periodically in the past year, but were reluctant to start her on it as one of its major side effects is constipation.  Right. . . . let's put the kid who doesn't poop for 9 days on a med that causes constipation!  However, we are at a point where even though she is eating more, it still isn't enough and she is not putting on the weight.

She still fits in the dress on the left, but it is a bit shorter.
Same shoes and still too big!

As her doc has been saying repeatedly "if she doesn't start to gain weight in the next x # of months, we will do an upper GI to completely rule out celiacs" -- well, those x # of months keep changing and  I personally feel it is time to officially rule out celiac, especially since her upper GI from 22 months of age showed small white blood cell focalization of the small intestine which could have been an early indicator.  Why is he dragging his feet?  I am not sure, but we will revisit the upper GI in 6 months if she doesn't start putting on the pounds.

My little picky eater ate 5 bits of brisket this past weekend and tried raw onions.
Truth: she spent more time playing with the onions and pickles than eating - telling us "circle".

*Update: We are day 5 into the periactin and haven't really seen anything yet.  In fact, it has made her constipation worse and she is eating less than before this medication.  I can provide her with opportunities to eat, go through all of the techniques we learned speech/feeding therapy and in the end, I cannot force her to eat orally.  Right now she only gets it at night because it can cause fatigue.  We will be increasing it to twice a day by the end of the week.  I am told that can take a few days to increase her appetite so fingers crossed that we start to see some big changes in her appetite and in turn, weight.


Monday, July 6, 2015

Quick Updates All Around: Travel, Lice, School, Friendship, and the passing of Amelie

I started this post about lice.  Yes, LICE.  As in Ellie had lice a few weeks ago.  That post isn't completed. . . yet. . .  but I decided to write about more mundane, and less disgusting things today.  Such as, what we have been up to the past few months!

In May, we had Ellie's IEP meeting.  You can learn a little bit more about it here.

It was also my darling, Tabitha's birthday.  My forever daughter in Russia turned 5 years-old and may or may not have aged out of the baby orphanage and transferred to an institution.  Given the adoption ban, I no longer receive updates on this sweet girl.  If any of you happen to know how she is doing, please contact me.

Andrew had a huge conference in Vancouver, B.C towards the end of May and I got to join him halfway through!  My mom flew down to care for Ellie so that Drew and I could have a mini getaway.  This is something we haven't done since Ellie was a baby and it was the longest we were away from her.  We had a lovely time eating out, checking about the water, and meeting up with my friend Lisa.  We went to the Capolano Suspension Bridge which is a huge deal.  I am petrified of heights.  I had this idea that I would swoon from the fear, crack my head open and then fall to my death.  Thankfully, that did not happen.

While we were gone, Austin and the surround areas were hit with record rainfall.  There was massive flooding just to the south of us.  At one point I-35 was washed over.  We had friends lose everything.  People were missing.  We were fortunate that the only damage we had was to our garage.

Bear graduated out of PPCD [preschool preparedness for children with disabilities].  I would love to tell you that she had a big graduation complete with cap and gown, but there was really nothing to mark the day.  She does have a few days of summer school that last about 2 hours/day for 4 days/week for 5 weeks out of the summer.  During her down time, we are having a grand old time with friends.

Girl's night with Sheryl & Rita at Cru Wine Bar

The not so fun part is that all of these doctor's visits seem to have snuck up on us.  My personal favorite is the dentist.  Ellie is usually such  little toot.  Screaming, thrashing, biting - and that is just a daily thing at home with me brushing her teeth.  So imagine my surprise when Bear cooperated for a dental cleaning - tooth brushing, fluoride treatment, flossing!!!

Then of course there was the lice incident, but more on that later.  Let's just say it was horrendous nit combing her hair and taking care of all of her hair accessories - hats, headbands, bows, horse helmet.  

It was very fortunate that the lice infestation was caught the week before our much anticipated trip to St. Louis to visit my parents.  Could you imagine bringing lice to another person's house?!  Ellie and I traveled to St. Louis sans Andrew.  Andrew had just returned from a business trip and needed to put in a bunch of hours at work and he also had great plans to work on the laundry room (this would be the laundry room that was gutted back in late December and the one that I blogged about in March).  

The Chunky Chicken was a rock star on the plane and behaved really well when we went to places like Kaldi's Coffee and this restaurant out in Washington, Missouri to visit my Uncle Robert and Aunt Sue.  Our visit was quick and we didn't get to see many people outside of family.  Ellie tried a ton of new foods - hamburger, deli chicken, alpine cheddar, gluten-free cookie.  I noticed that she did this the last time we went out of town back in March to visit my best friend.  Maybe the change of environment and being around new people make her a bit more adventurous?  We also managed to wear her out because she was going to bed between 6:00pm-7:00pm!

I ended up going with the white and the black mug from
The Shack, but I think I should have sprung for the red one too!

Unfortunately, a huge shadow was cast upon this trip.   My beloved 7 year-old tortoiseshell rescue kitty was compassionately put down.  To be so far away and not get to say good-bye was and has been rough.  The return home was extremely upsetting.  My spunky kitty didn't run to the door to great me.  She will never burst through the dog door and "chirp" at us.  She will never sleep on top of me again.  

Amelie was our honeymoon kitty.  The day we got back from our honeymoon, Andrew and I went to PetsMart to pick up dog food for Rodeo (?-2009) and kitty litter for Tama.  I walked out the door with Amelie in tow.  My little rescue kitten had a whole lot of spunk and personality.  Just after Ellie and I left for St. Louis, Andrew noticed that our Ame wasn't eating and seemed less energetic.  She used to sit on top of the fridge instead was laying around on the floor or on Andrew.

She arrived to the vet dehydrated, constipated, with a temperature of 95 (normal cat temp 100.5-102.5).  It was assumed that she had some sort of infection that entered her blood.  After a bunch of labs, it turns out that she was not septic, but was in kidney failure, most likely due to congenital polycystic kidney disease.  After intensive treatment, it because apparent that Amelie's body was shutting down (she was 91 degrees by the end) and we opted to compassionately ease her suffering.  It was really hard for Andrew to see her like that, but he was with her in the end when she gave him one last "meow".

I miss her so much, but I know that she is now playing with our dog Rodeo and curling herself up in his tail like she used to do back when she was a tiny kitten.