5/27 Mayo summary

Okay, the Mayo trip...  Overall I would say the trip was worth it.  Although we are still no closer to an underlying diagnosis, we did get some answers. 

We got affirmation that the genetic and other testing she's had done was thorough and appropriate.  They did have a couple more possibilities but said that she really does not fit into any one known disease.  They admittedly said that although they know a lot, they don't know everything.  They suggest that we just check-in perhaps once a year, as new testing is constantly under development.
 
We did discover via broncoscopy, that Anya has 'silent aspiration'.  In other words, she will occasionally aspirate with out an appropriate response like coughing.  It's not a good thing to have but it is definitely good to know about.  We were surprised at this as we always felt she's had such a good strong, productive cough and she's rarely had pneumonia. I read somewhere that the lungs can handle aspirating about 10% of your oral secretions (saliva) but with persistent aspiration overtime the lungs will get damaged and weaker.  Knowing that, it is unlikely that we'll be attempting any oral feeding anytime soon.  Saliva is relatively sterile compared to the risk of a bacterial pneumonia you can get from aspirating food.  So now we've started Anya on Glycopyrolate which is supposed to greatly reduce secretions.  Unfortunately the drug does not differentiate between oral secretions and other natural body secretions. Which means is also causes urinary retention, constipation and reduces the ability to sweat.  We have started on the lowest dose and have slowly began increasing until we notice a change.  If the dose isn't high enough, she'll still have a lot of secretions.  If its too high her secretions could just become thicker and even harder to swallow.  If the drugs don't work or actually even if they do, there are other options we have.  Botox the salvatory glands every 4 months under anesthetic (no thanks) or surgically remove and/or tie-off glands in her mouth.  Both are actually quite common we're told.     Anya has a swallow study scheduled for June 3rd and following that we may start trying VitalStim therapy which theoretically strengths the throat muscles for a more capable swallow.  We looked into the therapy over two years ago but it was still rather new and untested on pediatrics.  It sounds like it is mostly used on stroke victims and adult dysphasia.  The downside to VitalStim is that is time consuming, expensive and insurance doesn't cover it...  But we've seen a lot of forum comments of kids who've had some success with it.

One of the Doc's at Mayo also helped us realize that the issues we are seeing now (retching, coughing, lethargy) is not the same issue we had been dealing with the past few years.  (By the way, Anya is sick now. She's been sick nearly every damn day since Easter).  The vomit issues we most likely simply the result of the Hiatal Hernia (that was noted by the radiologist when she was 5 months old and we weren't told about.. yea I'm still a bit pissed about that).  Her symptoms we witnessing today are more common following a Nissen.  Retching is common and supposedly "typically" gets better with time.  Anya's severe hypotonia complicates things a bit more.  Nissens are meant to hold stomach content down.  They inherently make swallowing a bit more difficult.  So while Anya had her old torn (broken) nissen perhaps she could swallow easier then and was at less risk of aspirating on built up secretions.  So essential we solved one problem but created a new one....  Two steps forward, one back.  At least she's getting calories.  Oh yea!!! She is about 23lbs now!!!! That is nearly a 5 lbs gain since surgery.

Our next step is to get Anya in for a repeat MRI to see if her Cerebellum continue to atrophy, hopefully a spinal tap to repeat Neurotransmitter testing and perhaps get her teeth cleaned all under the same anesthetic.

5/23

Baby-doll had a very happy birthday yesterday. I'll update on our
Mayo trip later this weekend.

Long day of appointments...

5/20 Busy week

Hi all.  Everything is going fine. No medical miracles as of yet but it's only Wednesday... Here the weeks schedule:\

Yesterday:  8:30  2-hours w/ new Primary Pediatrician 

                 12:30 Neurologist

Today:  8:00  Trachea X-rays

            8:15  Chest X-rays

           9:45   Pulminology

           12:45  Allergist/Immunology

           2:15  Geneticist, family history

           2:45  Geneticist/Neurologist

           4:00  Blood draws

Thursday: 7:45   Endocrinology

               9:00  GI

               1:30  Otorhinolaryngology (aka ENT, ear nose & throat, I think)

Friday:  8:45  Primary Pediatrician again to go over all the findings and to get the prescription for that magic little pill that will fix everything.

 

Lots of appointments in a week but it's definitely a great way to go. It like cramming a year's (or so) worth of test into a few days.  We are obviously hopefull but so far it reallly is not much more than what we've already done.  Just a repeat and going faster.  But it's a bunch of new eyes on her, so who knows...

 

Anya slept great last night; 11-hours straight!!!!  Katie and I actually got an insane 9-hours of sleep!!! Wow does that feel good. I can actually think a complete thought today..

 

5/19 Mayo Clinic this week

Anya is going to be seen at Mayo Clinic this week.  We got here last night and meet her new doc at 8:45 this a.m. (Tuesday morning).  At that point we'll get a tentative schedule for the remainder of the week.  Should be interesting... maybe.   Anya was apparently so excited for this appointment that she couldn't even sleep.  She slept from about 2:30 - 3:00. crazy kid.

Exciting News!!!!!!!!!!

Anya has exciting news to share. Follow the link for more details!

http://www.wausaudailyherald.com/apps/pbcs.dll/article?AID=/200905111156/WDH0101/90511083

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5/7 Eye exam

I may not see good but I look fabulous....

The good news is that her cataracts haven't grown; still tiny and not
affecting her vision (is it affecting or effecting?). Her vision
hasn't gotten any better though. It is still around 20/80.
Structurally her eyes are perfect but apparently this is somewhat
normal with global developmental delay.

5/5 Best day in a long time....

Finally - A Happy Day!!!!!!!!!!!!!!!!

Anya is having a good day. It's been a couple weeks since we have seen
Anya's Happy Hugs!

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4/25 Aksel B-day party..

Anya had a much much better day today. It was a long night and early
morning last night. Baby doll was very aggitated and uncomfortable. I
took her into the walk in clinic to get her ears looked at (they never
looked in the ER yesterday) and it turns out she has a pretty bad
inner-ear infection. She on Amoxicilan (sp) now so ought to be better
soon. Aksel had his 4th birthday party today and the kids had a
blast. Anya got to go down the slide...

Coming home

No pneumonia. Clear chest xray and labs came back pretty much normal with the exception of slightly elevated BUN.  Increase BUN can be a sign of dehydrated. Ironically however Anya's BUN, even when she is known to be dehydrated from all her vomiting, is typically measures low when we've come to the ER in the past.  Today she doesn't physically appear to be too dehydrated, she has lost minimal amount of fluids because she can not vomit, she's been getting fluids/food all day and she's had a few wet diapers.  I think Anya needs to study harder for these tests, she's doing something wrong. This kid's so goofy.

Her heart rate is still high (160's - 190's), which I don't like...

3/24 Back in the ER...

Anya and I are hangin in the ER tonight. I decided to bring her in to check for pneumonia.  She was showing some mild signs of breathing troubles and had a heart rate ranging from 145 - 165 (I think norm for a 3 year old is about 90-110bpm), although no fever.   Chest x-ray just came back normal. So either no pneumonia or it is too early to tell.  Drawing blood right now for labs....  

Anya's lethargy

4/23

Unfortunately things haven't been going so well for Anya these past few weeks.  She's probably only had 4 or 5 good days in the past 3 weeks.  Following her surgery the vomiting episodes seemed to be reduced to lasting only an hour or two where she would just bring up mucus, be lethargic for a bit but then quickly snap out of it.  Lately however she's been sick most of the days, most of the day and night.  Her sleep has reverted back to terrible, up by around 1a.m. each morning and staying wide awake until around 7am.  Although at these times she not sick, in fact just the opposite, she is happy and just wants attention.  When she does "sleep" through the night it is actually more that she just happens to be lethargic and retching up mucus during the night.  Last year at this time was also a really bad period for her. We suspect her 'normal' issues may just be exasperated now by seasonal allergies.  We are seeing an allergist May 26th.  Last time we tried to see an allergist they blamed her vomiting thick mucus on the likely Mitochondrial disease. Now that Mito is off the table we'll see what they can come up with.

One interesting thing (to us at least) is that she is no longer biting her hands. I think she may have done it once since surgery but that seemed to be more by accident. Heck we all accidentally bite our hand once in a while, right?   So no more hand biting, but we're back to no sleeping and lots of mucus.  I probably goes without saying but we are both getting very tired and frustrated by this.  Watching your child suffer day after day after wasted day... I know things could be a whole lot worse and our hearts are constantly out to those parents whose kids are seizing non-stop and/or suffering chronic pain.  It is difficult to see so much hope in Anya's eyes but to not have yet broken through.

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Anya does NOT have Mito!!!!!!

It's official... We met with the Geneticist today, got the muscle
biopsy results and Anya does NOT have a Mitochondrial disease!!!!!!
In fact, Anya's mitochondria are "Rock Solid". There are zero signs of
any dysfunction or anomaly of any sort. So then what the hell is
wrong w/ our little pumpkin??? Who knows.. and for tonight, who
cares... All we know is that we are so relieved in confirming our
beliefs that Anya does not have this life threatening, degenerative
disease. Tomorrow we will continue to try to figure her out. Tonight
we will count our blessings.

4/7 Tuesdays with Anne...

Anya was in a great mood for this morning's PT session w/ her
therapist, Anne. Every Tuesday, when she's not sick, Anya gets an
hour of in-home physical therapy. Anne just goes over techniques we
need to work on for Anya's development. Lately her hamstrings have
gotten very tight. It's most likely due to a recent growth spurt as
bone grows faster than muscle. We try to do a couple sessions each
day of stretching and we also have her sleeping with braces on her
legs to hold them straight and stretch overnight.

Well, today is the Big Day.. We meet with the Genetisist to get her
Muscle Biopsy results. This could offer a diagnosis. Obviously we'll
post when we find out..

3/30 Great day!!

Anya finally had a good day! No retching at all, yea!... We need this.

Here is Anya listening to Nana G on the phone...

Hmmmm

Sorry we haven't updated lately, we just haven't been sure what to write! This last week hasn't been the best for Anya but we can't pinpoint what is going on, shocker. She is puking up a lot of mucus and retching a lot, more so than the last couple of weeks. We had to change her formula last week due to some problems with "dumping" (food traveling to fast through the intestines) that was leaving her feeling hyperglycemic. So the puking of mucus could be from a change in formula, her Nissan, or a cold (which causes more post nasal drip). So now we are playing around with different formulas and feed rates hoping to fix the problem. She gets very wiped out when she starts puking mucus, if she didn't have the Nissan she would def. be in a episode vomiting food. We have a GI appointment on Tuesday to discuss what we can do to help her.

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3/18 Lounging w/ Mommy

I'm doing really well everyone...