Thanksgiving

So thankful...

For these 4 kiddos...

and all their cousins...

and most of all,
our sweet little family...

My big girl Maura who is thankful for her newest little cousin, Teagan...

Appointments galore

November has been full of medical appointments for Audra.  I hate having to take her out of school so frequently, but it is nice to have so many of her follow up appointments behind us now going into the holiday season.

November 4th:  Ophthalmology

The eye doctor has been the one and only specialist that Audra's sees who is not a part of the CHOP (children's hospital) network.  We love the eye doctor Audra has been seeing but for continuity of care and collaboration with providers we felt it was important to switch her eye care to the CHOP network as well.  This was her second visit with the CHOP eye doctor.  The plan was to attempt to get better visual acuity testing done, but Audra is not the most cooperative patient.  Cute...yes, BUT stubborn...also YES!  And her severely delayed language skills make any testing challenging.  Bottom line...the eye doctor believes that her current eyeglass prescription is correcting her vision appropriately.  The other concern is her eye crossing.  At this point the eye doctor is hopeful that the glasses will continue to correct that problem as well and our fingers are crossed (no pun intended!) that she will not need eye muscle repair surgery.  Time will tell.

November 5th:  Neurology

This was the follow up to our many follow ups in an attempt to figure out what's going on in that little noggin' of hers.  Gosh...if only Audra could tell us!  Her EEG's continue to abnormal but she hasn't shown any physical signs of seizures.  We are trying to forget about the EEG findings and just treat what we see.  But it is hard to forget about the big, scary "thing" lurking...wondering if and when it may appear.  My biggest concern is that all of the "misfiring" (epileptic discharges) happening inside her brain is hindering her developmental progress.  I am told this is not likely, but it's hard to think otherwise.

November 5th:  Sleep Lab

Our little sleeping beauty can fall asleep (and stay asleep) ANYWHERE!

Literally.

As evidenced by the picture above...a 20 minute cat nap on the playground swing at school.

Unfortunately our first appointment with the sleep lab didn't get us any closer to a full nights sleep {or a full day of wakefulness}

Audra's extensive medical history as well as her significant developmental delays make it nearly impossible for them to diagnose a sleep disorder.  Or treat said sleep disorder.  Because of her very erratic sleep schedule they do not believe that a sleep study will provide them with any useful information.  So for now we are trying Melatonin, which I don't have much faith in.  The next step would most likely be a stimulant medication which would promote nighttime sleep and hopefully improve her ADHD symptoms too.

November 13th:  Endocrine
{{sorry. no cute pic to depict her Endocrine issues}}

For the very first time EVER...

Audra has one growth measurement that falls ON the growth chart.

Her BMI is at the 15th percentile.  This is HUGE!!  For as long as ever, she has never had one measurement plot anywhere near the lowest point on the growth chart.  Her weight for age and height for age still fall far below 0 percentile, but she at least has enough meat on her bones for an acceptable BMI.  At 8 years old she is now 41 inches and 34 pounds....about the size of a 4 year old.  

But this is amazing...

a long way from the 19 pound five year old wearing 18 month clothes that we brought home just two and a half years ago!

And now that her BMI is in a good range, the Endocrinologist thinks she will have some rapid gains in the height department.  We are giving her another year of growth until we revisit the growth hormone discussion...which I really hope to avoid.  

November 13th:  GI

This was probably her first GI visit where there really wasn't much to talk about.  Her measurements are good and her symptoms are minimal.  Everything is status quo and now the nutritionist will take charge with tweaking and managing her tube feedings.

November  24th:  Immunology

We had a great Immunology visit.  Audra has been receiving the weekly immunoglobulin infusions for 11 months.  And the past 11 months have been her healthiest yet since we brought her home!  No coincidence there.  While her first year home saw her in the hospital multiple times for weeks at a time...since starting the infusions she has only had two {short} hospitalizations :)
After this visit she had lots of immunology labs drawn to re-check her immunoglobulins, antibodies, B-cells, T-cells, etc. etc. etc.  She was a "one stick wonder"!!
One poke, lots of vials, and practically no tears.  

and hopefully...

This month (or next) we will hear from the Genetics team with the results of Audra's genetic testing (whole exome sequencing).  Our insurance company denied the request for the testing, but luckily Audra was able to be enrolled in a research study which provides the exact same testing free of charge.  However, that has meant a much longer wait for results.  We have been waiting for nearly 16 months now.
"Any day now" I keep telling myself!