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Friday, February 20, 2015

Letter for help...waiting to hear back with high hopes

I would like to start this email by thanking you for taking your time to read this and for any possible assistance/direction you can provide.  I would also like to establish that I am able and willing to travel to Ohio to seek any improvement to my daughter's  health.    I feel it is important to give you some  history on my daughter which I have summarized as detailed but briefly as possible as  to not take up too much of your time.  I can provide any additional information requested including pictures and video.

My dauughter, Megan,  is currently 8 years old.  To date her primary diagnosis is encephelopathy with white matter demylenation & disorder of mitochondrial function that is suspected to be seondary to a primary metabolic defect (lysosomal?).  I was doing some personal research on excess mucus production and came accross your article and felt very strongly about contacting you for assistance.  My daughter was born full term in October of 2006.  Pregnancy and birth were normal and all appeard to be fine with her.   Within the first 3- 6 months after birth she developed seizures and was diagnosed with a bilateral sensorinueral hearing loss.  She was 17 pounds at that time and to date has only reached 29 pounds and is 40 inches.
Shortly thereafter  we learned she is also cortically visually impaired and was not thriving despite dietary changes and she had a GTube placed at 15 months old for supplemental nutrition.    At slightly over 2 she suffered a sever and almost fatal reaction to ACTH used to treat the infantile spasms she developed .  She was intubated  in February of 2009 due to this reaction, but was unable to extubate due to hospital acquired infections,  excessive sedation and complication of a solumedrol medication error while inpatient.    She had a tracheostomy 6 weeks after intubation that allowed us to bring her home.  Although ventilator dependant at the time, she was completely weaned from the ventilator within 6 months of coming home.    Within another 6 months her trach was nothing more to her than a source of infection.  She was decannulated almost one year to the date (4/2010) that she had the initial tracheostomy and from a respiratory standpoint was doing well.  Respiratory was not the main concern for her.  Seizures and GI were on the forefront.  After being intubated Megan no longer tolerated eating by mouth so her GTube was used for continuos feeds.  Although motility was always an issue,  it progressed to gastroparesis and she was losing weight.  She had a trial of a gastric stimulator on 2/2012 and did wonderful with the outside temporary placement.  The permanent device was placed in April of 2012. After  initial placement the surgeons adjusted the settings to increase the pulses to allow for more motility at intervals of 4 approximately 4 weeks.  In June of 2012 Megan started producing mucus that seemed to be all upper airway.  There were large mucus balls that we were getting out of her stomach that would literally back up the feedings inhibiting the stimulator to do its job unless we cleared them out hourly.  The consistency was that of egg whites and it was constant.  She was having frequent episodes of atelectasis with increased heart rate, elevated body temperature, strained breathing, etc.   due to mucus in the upper airway.  Once th mucus plug was cleared all would resolve for a short while (a day).  She was also received regular neb treatments - every 2-4 hours consisting of pulmicort, albuuterol, saline, CPT vest.   It kept progressing and she eventually went onto adding mucomyst, pulmozyne and alternating Tobi nebs every other month such as a CF patient does.   This past spring (5/14) Megan's GI tract again was not tolerating feedings and she was losing 1 pound per week.  The physicians turned up the device and it was worse. I had her admitted through the ER to have the device shut and they placed a GJ Tube for emergency nutrition and shortly thereafter removed the device completely as they discoverd that the pyloric valve had almost sealed which was the cause of the gastric stimulator malfunctioning for her.  Megan has not lost any weight but is also not gaining either weight despite continous feeds at a rate of 53 ml per hour  with adequate caloric intake.  53 is the highest rate we have been able to achieve which is record setting for her.  Megan also has a history of GI bleeds as evidenced by the coffee grounds we  get in her GTube aspiration  contents and also sometimes in the oral suctioning.There is a dried bloody crust in her left nostril several times a week as well.  Endoscopy did not reveal the source of the bleed.  

All through this time I was searching with her physicians as to where this mucus was coming from and questioning everything.  She was inpatient several times for different tests and procedures to try and determine what was causing it as her quality of life had deteriorated to not being able to do anything but get  nebs and have suctioning.  We discovered she is IGG and IGA deficient and receives immunoglubulin therapy.  Every allergy for foods was weeded out and she is on a home made gluten, dairy, corn and soy free blenderized diet that I prepare daily for her.    I was hopeful that maybe the stimulator removal would give us some answers and maybe the nerve stimulation was creating this mucus.  We very rarely have the mucus in the stomach since it was removed but we are not feeding through the stomach any longer either so to say it was from the stimulator being removed I can not.  She still coughs copious amounts of mucus that is so viscous in nauture it chokes her and clogs the suction tubing.  It rolls in the back of her throat like an oyster when she is able to cough it up.  She  sometimes is too weak and tired to cough and the secretions are so thick we work for hours to thin them out with various treatments to get them to be able to "move".    Bronchoscopy and endoscopy revealed nothing.  Physicians were amazed at how good everything  looked and were taken back that she did not look like what they would have suspected by what they saw on the outside.  All I have gotten is to keep doing what we are doing.  Between GI, Pulmonology, ENT, Nuerology, Allergy and Immunology there has been no relief for her or answers to help.  If we could find some treatment for this mucus that is drowning her it would be life altering for her and our entire family.  

I saw several topics on acetlycholine and mucus and eventually somehow found my way to your article.   I am sure it is apparent that it peaked my interest and knowing what a wonderful institute Cincinnati Childrens is I felt confident that if there is help for my daughter to be found this was a reliable source of information.

Once again,  thank you for receiving and reviewing my email to you. 

Megan's Movie

Tuesday, July 15, 2014

Found this journal I used to write in with these notes:
Remembering how hopeful I was when I took Megan to Wisconsin.  She seemed so normal compared to what she is now - even though she wasn't.
Looking at another girl who was I believe 7 at the time - and thinking how lucky we were that Megan was not as disabled as her.  It old Pat theose exact words.  I thought how skinny her legs and arms were  and how pale her complexion seemed with a kind of dazed look in her eyes.  I didn't realize that it was only a matter of time and would be looking at Megan who would appear so much like this little girl eventually.

Knowing it is a matter of time until she is taken home.  Bittersweet to know that she will be able to run and play and feel no pain - no more suffering.  I will  not be with her and my very being will feel destroyed by the loss.  The selfishness is human nature but how to overcome that is the real question.  If I let go like that psychic eluded to - Megan has not crossed because of my pull on her spirituality.

Next entry:

There is never enough time in the day.  Always feel like a pressure cooker about to erupt. I got angry at myself for feeling like this because I know I can't control time on the nature of my life.  I still can't help feeling like I am being held underwater.  The anxiety is what is going to destroy me if I don't handle it.  And everyone I love too.  But why is all of this my problem?  Really - it is an unrealistic expcectation and inhuman amount of stress for one person to feel responsible for every one.  And the guuilt I have thinking if I fail.  I want to shut the world away sometimes.  Even to get some personal solitude is not feasible.  All these people in and out of my house. Asking, wanting, needing.  God forbid I am not on my A game for all of these people here to help "us".  It is comical when you think about it but utterly overwhelming to me.  I am tired of all of the different personalities - nurses, etc.  and having to adapt to THEM.

Wow - thats a lot of angst.

Wednesday, December 11, 2013

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!

Friday, April 26, 2013

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.

Wednesday, April 17, 2013

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.

Saturday, March 30, 2013


   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)

 “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.