Shands

Meg in for CT scans now - going down at 11 am for bronchoscopy and upper gi - did not happen yesterday. If all goes well and she wakes up after anesthesia fine we should be discharged home to await what is next and hopefully gain some insight as to what is causing all of this junk in the upper airway and making us depend on suctioning and pulmonary toileting around the clock. We were told that after looking at her lungs they were all in shock that they are perfect and are not damaged - does not make any sense - they were expecting to see some bad stuff in there but they are clear and look just like the way they should - they attribute it to all of the work done in keeping them this way - I think she is stronger there than anyone thinks - but yet more vulnerable of course which is tricky! To say the least they are definitely puzzled at how she presents. Tell me something I don't know??? Not the first time she has done this to a bunch of great doctors. Which by the way - they are wonderful here. I am impressed - they all really care and want to help my little ballerina!

Temple Terrace Girl Scouts triathlon helps girl | Breaking Tampa Bay, Florida and national news and weather from Tampa Bay Online and The Tampa Tribune | TBO.com

Temple Terrace Girl Scouts triathlon helps girl | Breaking Tampa Bay, Florida and national news and weather from Tampa Bay Online and The Tampa Tribune | TBO.com

I just had a really upsetting encounter with one of Megan's physicians - I actually feel like just breaking out into a full on emotional cry right now. Why should I feel like I am bothering the paid physician to answer a question or clarify a certain test that needs to be performed. It is one that was suggested by the physician and the instructions were to get one of my local Dr's that I trust to have it set up - it is a genetics test/skin culture and labs - is it too much to ask for the actual test code that Mayo uses so we make sure it is done right? I attached the tests via PDF to my email

My question:
The two attached docs are tests through Mayo. Could you please look at them and confirm that this is what we should proceed with? He will be able to perform but we want to make sure we have the right studies before proceeding further.

In the event that these are incorrect please advise the correct test orders.

Response:
They're exactly what is it my email

This is what was in the email which led me to question test codes:

The additional studies are 1) obtaining tissue (it can be peripheral blood lymphocytes) and completing electron microscopy studies on them to look for the presence of the typical lysosomal inclusions that are diagnostic of the disease. A pathologist would know what to look for in this case. 2) Skin biopsy to do TPPI enzyme analysis
through Mayo labs. The skin would have to be grown in culture then sent to Mayo labs for analysis

I did not respond to the very curt answer I got but decided to call to be told by the person on the other end that the Dr. is actually out sick and they were surprised that I got an answer at all. And her being so blatantly curt was passed off as she is sick and she did not have to answer at all.

If you are sick and unable to answer - have an autoresponder on your email that states that so you dont feel obligated.
I did not ask for an answer "TODAY". Did not expect one till next week sometime.
I am not a doctor and have never professed to be one. I am my child's lifeline and advocate though. I never bitch or complain about any fees, appts, wait times, etc. I understand that it is a highly specialized area and there is not a vast amount of help to mito patients and you have to be patient and understanding.
Lastly - I dont care how you feel - this is your profession - this is about my child's life and future - she has a bad day every freaking day - there are more bad days around here than good for everyone. I am tired and emotionally spent - but I am not rude.

Please tell me I am not crazy - why do I feel hurt? I guess it is so disappointing. My faith in the medical field and their compassion for the people they treat in their specialty is rarely there or it seems it is a front when they act like they do care.

For the first time in so long Megan woke up clear in her chest - hope it stays this way. She also has been pretty cranky and I figured out why - she is cutting her six year old molars. Had her in the pool and she had her head back and mouth open and they were staring right at me - puffy gums and all.I am guessing it hurst more cause she does not chew food with her teeth and her gums are thicker - ouch! And - She has broken the 25 pound threshold at 25.2 pounds. Pacemaker was put in a year ago on April 13th and she has gained 4 pounds with it.

   5th Annual Tri It Get Fit Youth Triathlon & Fun Run

Saturday--May 4, 2013

                                   Sponsored by Girl Scout Troop 758

Reverse Triathlon:  Run, Bike, Swim

Temple Terrace Tri It Get Fit Triathlon  (TTT)

ONLINE REGISTRATION LINK--click here

 “Tri It Get Fit” is the PERFECT location to kick off your 2013 triathlon season or “tri” your first triathlon!  A triathlon may seem overwhelming but if you can swim, bike and run a short distance YOU CAN DO IT!  The triathlon is open to youth of all ages (starting at 5 years old) and adults and includes a closed course run, followed by a scenic bike around Temple Terrace Country Club Golf Course and finishing with a heated pool swim at the Temple Terrace Recreation Center. 

We are also adding a NEW EVENT for the community this year--a 1 mile FUN Run/Walk Event for those individuals who would like to participate in a fun, healthy event and support our efforts without committing to a triathlon!! 

Join us to celebrate youth fitness and “Tri It Get Fit”.  Troop 758 will be holding severaltraining sessions in March and April for youth and adults to train and become familiar with how to transition during a triathlon.  Training dates will be sent via email and will be available on our website.

Girl Scout Troop 758 would like to invite you to participate in Girl Scout Troop 758’s 5th Annual “Tri It Get Fit” Triathlon at the Temple Terrace Recreation Center, Saturday, May 4th, 2013.  Last year we had over 130 participants and hope to well exceed this number this year.  Girl Scout Troop #758 is hosting this event to promote youth fitness and to raise awareness of the fastest growing participatory sport in the world, the triathlon.  This year will continue our component of the race for physically challenged and special olympic athletes. 

                    Challenge your employees to race as a team!!

Event Sponsorship Opportunities

The troop will be obtaining Event Sponsors to cover the costs of the triathlon (renting the Temple Terrace Recreation Center, hiring police officers, etc.).  The proceeds from the triathlon will be deposited into Girl Scout Troop #758’s treasury, a portion of which will benefit several local community projects including the “Miracle for Megan Garrett Irrevocable Trust”.    To learn more about Megan’s touching story go to www.miracleformegan.com.
Troop 758 has donated $13,000 of their proceeds from the past four triathlons to Megan Garrett's Trust and $2800 to "Clouds of Hope" for the All Accessible playground in Temple Terrace.  For more information about "Clouds of Hope", please visit www.cloudsofhope.com.
                                            Sponsorship Form (click here)

Genetics

After years of genetic testing we got results yesterday that confirms a gene mutation. Mitochondrial Disease genes are hard to detect - sometimes you never know what nuclear DNA genes are affected - only have mitochondrial DNA results. This gene is the primary cause of Megan's Mitochondrial Dysfunction.

We will be doing some other tests now that we have this info....this was definitely long awaited. Cant say it is good news, but it was necessary news.

Santavuori-Haltia/Infantile CLN1/PPT disease
Definition:
Santavuori-Haltia/Infantile CLN1/PPT Disease is part of a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by an abnormal accumulation of lipopigaments, which are subtances combined of fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and within other tissues throughout the body.

NCL I is known to result from deficient activity of an enzyme called palmitoyl—protein thioesterase-1 (PPT-10). The gene coding for this enzyme has been named CLN1.

Symptoms of Santavuori-Haltia/Infantile CLN1/PPT Disease begin between six months and 19 months of age. During ages of six to 19 months, a delay in mental and muscular activities appears at the same time when the affected child begins to lose the mental and physical skills he/she had acquired. A small head, seizures, an inability to coordinate voluntary muscular movements, decreasing muscle tone, muscle spasms, and visual impairments are additional symptoms. As neurological complication progress, immobility, spastic and involuntary movements, and a lack of response may also occur.

Santavuori-Haltia/Infantile CLN1/PPT disorder is an autosomal recessive disorder.

Life Expectancy for Santavuori-Haltia/Infantile CLN1/PPT disorder is five years of age or younger.

An MRI scan of the brain typically shows severe atrophy of the cerebral hemispheres and cerebellum.

There is no cure for Santavuori-Haltia/Infantile CLN1/PPT disorder. Treatment is limited to reducing or controlling the symptoms of this disorder by routine consultation with the patient’s neurologists, ophthalmologists and genetic counselors.