Anya's Public Journal: May 2009

Wednesday, May 27

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.

Saturday, May 23

5/23

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

Wednesday, May 20

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..

Tuesday, May 19

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.

Friday, May 15

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

Hotmail® goes with you. Get it on your BlackBerry or iPhone.

Thursday, May 7

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.