Sunday, November 16, 2014

Aislinn's Treasures Over the Moon

October is one of my favorite months of the year.  The weather allows us to be out and about because it is not too hot or cold.    Fall break allows us freedom to come and go without the worry of homework.  

This October unfolded many goodies!   At the beginning of the month, Aislinn’s private insurance pediatrician, Hospitalist at Children’s Hospital, and a social worker made a house call.  Yes, a house call in this day and age.  It was a two hour meeting to identify our wishes for Aislinn.  You might know this as the "end of life discussion" or "the quality of life talk".   I always struggle with this subject.  I did appreciate being in the comfort of my own home.  It was a supportive conversation.  I think I surprised my guests when I laid out "the plan" and described my support system.  Yep, the plan includes hospice at home, list of happy songs, and a video. It will be a celebration of her ascending into Heaven into the arms of her Irish Grandma Sharon and Swedish Grandparents Florence and Roy!  We might just release butterflies to fill the sky with the same vibrant colors that Aislinn brought to this world!



October brought a blessing of communication from three families each with a child living with a diseased GRIN1 gene.   Interestingly they are all girls.  These families span from Vermont, Pennsylvania, and Sweden.  How cool is it that my blogs for Miracles for Mito have brought these wonderful families in our lives to share our trials and tribulations?  Way cool I say!  I cannot tell you how happy I am to have a connection with other families with the same rare gene mutation!

Aislinn had so much fun at Bison Park!  Wellness and perfect weather helped make the below cheerful memories of playing in the swing and laughter with her big sister!   Maybe someday Aislinn will have a swing of her own in our backyard!
  

  

  

For the first time in years, Aislinn was able to go to the Boo at the Zoo in Denver.  Lions, tiger and bears oooohhhh a baby giraffe!   She and her big sister were diva vampires who had a great time scaring up some fun!  
       
  


Over the past 18 months, Aislinn has struggled with daily seizures and status epilepticus requiring multiple hospitalizations.   Countless medication have been gvein such as Zonismide, Rufinamide, and Clonazepam which brought temporary relief or none at all. October brought some promising news about Aislinn’s seizures.   Imagine having fewer seizures in a day or month or year.  Could this be a reality for her?  I hope so! This news shot me over the moon because there maybe  seizure releif or reduction on the horizon!        

          
*Photo by S. Milto

Much love,
Michelle D.  Voss-Shelley

(Mom to eight year old Aislinn with a GRIN1 mutation)


Saturday, November 1, 2014

Rockstar Connections

Without context, a piece of information is just a dot.  It floats in your brain with a lot of other dots and doesn’t mean a damn thing. Knowledge is information-in-context…connecting the dots.-Michael Ventura

The above quote recently resonated in Aislinn’s world when I learned my blogs for Miracles for Mito had traveled across the pond. To my surprise, it was a doctor in the United Kingdom that had seen my blogs!  How cool is that!?! 

With much excitement I began corresponding with Dr. Fry, an established genetic specialist from the Institute of Medical Genetics at the University Hospital of Wales. He has been doing research into the genetic basis of childhood disease since 2004.  He was interested in Aislinn’s confirmed GRIN1 mutation and possibly including her medical data in a paper that could consolidate what is known about GRIN1. 

* 



Believing in my heart that power is knowledge, more connections were made with the fabulous Children's Hospital Colorado genetics team who identified her GRIN1 mutation and Emory University where her mutation is being studied.    I felt it would be beneficial to the medical community at large, and for other families recently diagnosed (or searching for a diagnosis) of GRIN 1 defect to have a collaboration of as many specialists as possible.  These connected dots have profound possibilities.  Who knows what might come out of these newly connected dots?


I am very grateful that Dr. Fry reached out to me, and I wish to continue down this path for two main reasons:
1) More minds, the better.  Anything we can do to mitigate the symptoms and increase the quality of life is most welcome.
2) To “blaze the trail” for current or future families afflicted with this defect.

Someone pinch me because sharing Aislinn’s journey through blogs has been healing. Knowing that her struggles have created an interest for those in the medical field and across the world is more than I could have ever asked from God or the Universe!   I am honored to have been contacted by him and others.


Aislinn is on this earth for a reason, hers is to be the guiding light and trail blazer for others to better treatment and hopefully a future cure.  In her own rite, she is a Rockstar!  She says so herself!


Much love,
Michelle D.  Voss-Shelley, APA
(Mom to eight year old Aislinn with a GRIN1 mutation)


* Image per http://news.bbcimg.co.uk/media/images/68963000/jpg/_68963038_hosp.jpg

Saturday, September 27, 2014

Aislinn's Treasures-In That Moment of Contact

A story without an author is not worth listening to.-Irish Proverb

Over a year ago, I began blogging for Miracles for Mito.  Truth be told, it was a safe haven for me.  I could share my journey with my daughter Aislinn. It's been my pleasure to write about angels in Aislinn's life. I shared inexpensive creature comforts because commercial items do not fit in her world.  I poured out my heart in a blog about the realization her condition was not going to improve as I purchased her first wheelchair and mobility vehicle the MV-1.  I shared the success of a meeting where her key specialists were present.  Other blogs were about kind souls or a local photographer that a positive impact in our tiny world. I brought Aislinn's teacher into the spotlight because she is a gift to her craft. I could go on about the rest of them but I won't except for one that forever changed my life....

The most compelling blog was about the exome sequencing results. I searched for answers for more than seven years.  The blog was titled Aislinn's Treasures Just GRIN.  It publicized that Aislinn was one of three known cases concerning a rare diseased gene. How rare you ask?  Well the current US Census Bureau world population 2013 estimate is that there were 7,119,506 people on earth as of October 22, 2013.  So in essence. she was 1 in 2.4 billion at the time of the results.   I wished to connect with the other two families. 

Recently my wish came true with an unexpected twist.  Maria, the President of Miracles for Mito sent me a text saying a someone was looking for me because they had seen my blogs. A mom (Stacey) with a daughter (Leila) who had the same rare diseased gene found me! We both have a daughter living with a diseased GRIN1 gene.  And then there were four...

In that moment of contact, we cried tears of joy because one of our deepest wishes was coming true!  I am honored and humbled to have been found by Stacey. I am astonished that my writings have brought two families together.  Learning about Leila has brought comfort to my tiny world.  Our journeys are similar but not identical.  The girls are a few years apart nonetheless you will see some heart warming similarities in the pictures below. The power of the modern pen is mighty!


Aislinn                      Leila
         
  


       Aislinn                   Leila      
                



                Aislinn                        Leila    


Much love,
Michelle D.  Voss-Shelley, APA
(Mom to eight year old Aislinn with a GRIN1 mutation)

Wednesday, September 17, 2014

Aislinn's Treasures-She Talks to Angels

I am so excited that Miracles for Mito will be my first blog. Once again you have been safe haven for me to open up and share a sliver of my daughter Aislinn‘s journey with suspect mitochondrial disease. Or as we like to call her ”Ice”. She is six and a half years old.

I could share all of the difficult trials and tribulations that come from having a severely disable child coping with this devil disease, but I won’t because it is not my nature. Instead, I will share the earth bound angels, who in their own special way, have had a positive impact in Ice’s life.




The first angel you might know. I will call her Dr. E. During the first year of Ice’s life, she was the first doctor to sit down for nearly three hours to talk, exchange information with, suggest helpful agencies, explain Medicaid waivers, recommend other specialists, and provide a plan to improve Ice’s life so as to not dwell on what it would not be. After that notorious appointment, I knew she would a needed specialist for Ice and had set the bar for other specialists or therapists.



You might recognize Dr. S if your travels include GI issues and experienced his saintly deeds. I will never forget his excitement when we brought an unsolicited #2 specimen to the first appointment. Ice would need him in finding out why extreme vomiting persisted without relief when using medication and the insertion of her G-tube. As Ice slide down the negative side of the Growth Chart, Dr. S brainstormed. In a week long hospital stay, Dr. S. determined Ice’s pyloric valve released slowly causing a build of food with only one way out…projectile vomiting! Bye bye G-tube. Hello J-Tube and a long road to gain weight to rest at the 60th percentile!




If your child suffers from seizure or anxiety disorders, Dr. C might be a familiar neurologist.  More than once she has engaged in divine intervention. With many allergies to medication, Dr. C’s determination found a seizure medicine call Zonegran that worked for Ice until her osteoporosis kicked in causing an unexplained break to the femur bone. In a recent hospital stay, it was Dr. C whose divine intervention helped us persuade Kaiser for more tests which found new seizure activity and migraines to explain extreme irritability episodes.



Two therapists have stood out and have been with Ice for most of her life. Ms. T (physical therapist) is the angel who helped us recognize a tethered spinal cord and dislocating hips.  Through her experience we were able to see the benefits of spinal surgery, reconstructive foot surgery, and bilateral hip surgery. Our lucky stars have kept Ms T. with us for most of Ice’s life. She has given Ice mobility to explore the world. Mrs. M (speech therapist) is the angel who helped give Ice a voice in the maddening and frustrating world of public education. Over more than three years, Mrs. M has been a key person in teaching Ice cause and effect. Together we are searching for the best adaptive equipment so that Ice can share her wants and desires!  Hooray!



The next three angels are nurses in disguise and care for Ice so that Daddy and Mommy can work or sleep. Nurse J fell into our laps to set the bar for additional or future nurses. She has been a part of Ice’s life since she was three. Nurse J has a gift to snuff out phenomena and UTIs as they are attacking the body! She has a calm sense of confidence about her and a tigress dedication to making sure prescription allergies and compounds are button down tight!  Nurse B was brought to us in a great time of need after a horrific experience with a nurse who fell short of the bar set by Nurse J. Nurse B’s angelic deed was in sponsoring Ice in a quest for trust funds to make the purchase of our MV-1 more affordable. Thanks to Nurse B, Ice is seeing the world! Well at least Colorado for now. Nurse H is a new comer to Team Aislinn and has already made her mark. Luckily in a previous life Nurse H was a preschool teacher! Ice does crafts galore and her Home Bound Teachers are catching a much needed fever to improve
her educational experience!



Ice’s big sister Alexis has to be the most special angel. In the darkest days, it is Alexis who can calm or bring a smile or a laugh from the depths our souls. Alexis is a gift in all of the uncertainty and chaos.




So look around in your world. There are angels in many places. I shared the angels in Ice’s life. I firmly believe she talks to angels…


Much love,
Michelle D. Vss-Shelley
(Mom to seven year old Aislinn with a GRIN1 mutation)

Tuesday, September 16, 2014

Aislinn's Treasures-Night Shift

It is in the middle of the night on any given day of the week.  The rest of the family is deeply asleep while I sit in my Great Room listening to the humming of the oxygen machine assisting in my daughter's breathing. It compresses air and gently releases it as if to give her a kiss.  A kiss of life I suppose or an angel's breathe. It is the newest addition to aid in her sleep. 



It’s been years since I have had a full night’s rest for various reasons.  There are the fun and heartwarming reasons for my lack of sleep.  You know, that first year where one is dragging butt because the baby is hungry or cooing in the night.  Or up all night because the baby has the sniffles and only wants Mama.  But then there are more ominous reasons for not getting the rest I need, like, frequent hospital stays, nightly medications, recovery from multiple surgeries, wacky feeding schedules because of the efficacy of any given medication (a.k.a. her feeds), seizure precautions, muscle spasms, and a GRIN1 gene mutation that the causes constant excitability. 



Some might say I am a stubborn control freak or a helicopter mom or Super Mommy.  I have great hearing, a video monitor to track irregular breathing, and body movements.   This has proven to be beneficial in capturing grand mal seizures, choking spells, breakthrough pains, severe muscle spasms, and low oxygen.  Hmm, Super Mom has a good ring to it, but truth be told, these are skills and tools that are naturally enhanced when protecting our young.  Clearly as a Super Mom, I’d need to help the human race and not just my daughter.    So, the label of stubborn control freak is much more appropriate. 

 Seizure video...careful if you blink, you'll miss it.


Muscle spasm...painful right!?!


I recently read an article about sleep deprivation and had certain events in my life that were eye opening.   Below are the condensed the 10 items mentioned in the article.   
10 Things to Hate About Sleep Loss (1)
You know lack of sleep can make you grumpy and foggy. You may not know what it can do to your sex life, memory, health, looks, and even ability to lose weight. Here are 10 surprising -- and serious -- effects of sleep loss.
1. Sleepiness Causes Accidents
Sleep deprivation was a factor in some of the biggest disasters in recent history: the 1979 nuclear accident at Three Mile Island, the massive Exxon Valdez oil spill, the 1986 nuclear meltdown at Chernobyl, and others.
2. Sleep Loss Dumbs You Down
Sleep plays a critical role in thinking and learning. Lack of sleep hurts these cognitive processes in many ways.
3. Sleep Deprivation Can Lead to Serious Health Problems
Sleep disorders and chronic sleep loss can put you at risk for:
·         Heart disease
·         Heart attack
·         Heart failure
·         Irregular heartbeat
·         High blood pressure
·         Stroke
·         Diabetes
4. Lack of Sleep Kills Sex Drive
Sleep specialists say that sleep-deprived men and women report lower libidos and less interest in sex.
5. Sleepiness Is Depressing
Over time, lack of sleep and sleep disorders can contribute to the symptoms of depression.
6. Lack of Sleep Ages Your Skin
Most people have experienced sallow skin and puffy eyes after a few nights of missed sleep. But it turns out that chronic sleep loss can lead to lackluster skin, fine lines, and dark circles under the eyes.  
7. Sleepiness Makes You Forgetful
Trying to keep your memory sharp? Try getting plenty of sleep.
8. Losing Sleep Can Make You Gain Weight
When it comes to body weight, it may be that if you snooze, you lose. Lack of sleep seems to be related to an increase in hunger and appetite, and possibly to obesity.
9. Lack of Sleep May Increase Risk of Death
In the “Whitehall II Study,” British researchers looked at how sleep patterns affected the mortality of more than 10,000 British civil servants over two decades. The results, published in 2007, showed that those who had cut their sleep from seven to five hours or less a night nearly doubled their risk of death from all causes. In particular, lack of sleep doubled the risk of death from cardiovascular disease.
10. Sleep Loss Impairs Judgment, Especially About Sleep
Lack of sleep can affect our interpretation of events. This hurts our ability to make sound judgments because we may not assess situations accurately and act on them wisely.  Sleep-deprived people seem to be especially prone to poor judgment when it comes to assessing what lack of sleep is doing to them.

WOW, I have experienced 8 out of 10 items.  Admittedly, I’ve nearly wrecked my car.   I have bags under my eyes and hands look older.  Oh please, not now honey!  Oops, what did you same your name was?  My weight is not healthy.  Cake for breakfast, why sure!  If I pull in my immediate family, it encompasses all 10.  Undoubtedly, I need to change and this is not the perfect score I am likely to brag about.  Fortunately I have the resources to improve if I can find the strength to let go of some control, not view it as a failure, and realize I cannot do it all.   

Sleeping soundly video...pure peace.
 

Mercifully Aislinn qualifies for 24/7 care.  It has helped me to talk to other mommies and daddies of special needs kids. I have the support Aislinn’s specialists.  I have a daytime private duty nurse that is passionate about giving Aislinn the best care.  My powerful village strikes again.  Awareness is key…check!  Action plan is in place…check!  Implementing the plan begins with interviewing for the Night Shift…check!  Carrying out the plan…pending!    

Much love,
Michelle D.  Voss-Shelley
(Mom to seven year old Aislinn with a GRIN1 mutation)
    

It was titled 10 Things to Hate About Sleep Loss by Camille Peri as reviewed by James Beckerman, MD, FACC.  You can read the whole article at http://www.webmd.com/sleep-disorders/excessive-sleepiness-10/10-results-sleep-loss

Monday, September 15, 2014

Blog Post from Jacob's PT for Mito Awareness Week

As a therapist, I love to see people do things that seem impossible. If you look at the symptoms that go along with a mitochondrial disorder, being able to move, talk, and play seem impossible. Having the energy for independent breathing seems impossible. Certainly riding a bike, teasing your sister, asking for time with dad, and telling your mom that you love her seem impossible.


Jacob can't voluntarily move any of the joints in his body. And when I met Jacob, he was only able to sit for about one minute, with lots of support--and even a lot of worry about how his breathing would hold up. In the year and a half that I've known Jacob, I've watched him do and inspire the impossible over and over. 



Jacob now sits up for 10+ minutes at a time, and often, his breathing is better when we are sitting up together (working hard!) than when he's laying down. Jacob uses his talker to tell his family and his nurses what he wants (even if what he wants is NOT to do his homework!). Jacob rides a bike, stands up in his stander, and can even fly (in his ceiling lift sling)! 


As a therapist, I couldn't really ask for more heart or more inspiration than this. Jacob has taught me a lot about what is possible under conditions that seem impossible. It seemed impossible to have a ceiling lift installed in a home. It seemed impossible for Maria to bike through the Rockies. It seemed impossible to raise so much money just for mito research. It certainly seemed impossible for Jacob to do many of the things he does each day. 

I've loved being surprised by Jacob over and over as Maria sends me pictures and tells me stories of Jacob biking and swimming and sitting with Sarah, making friends at school, and inspiring everyone around him to try what seems impossible--for you just never know what you might accomplish if only you take that first step, write that first letter, climb that first hill, or sit up that first time. Thank you, Jacob, for surprising and inspiring me each week! 

Love,
Jill



Saturday, September 13, 2014

Aislinn's Treasures-Away from Home

Earlier this year, I traveled with fabulous ladies from Miracles for Mito (MFM) to Pennsylvania for the United Mitochondrial Disease Foundation (UMDF) Symposium.  This symposium brings doctors, patients, caregivers, support groups, and vendors together.  As Mitochondrial Awareness Week approaches, I could not help but reflect on my whirl wind weekend and share my experience.




The symposium included panels held by doctors.  Imagine having a stolen moment to discuss meaningful subjects with doctors on the cutting edge of research and the on the eve of the release of new medications.  Priceless, right?  I asked my captive audience about his or her thoughts on growth hormone treatment as the care giver to my growing child.  I asked about possible avenues to share genetic data.  I asked about homeopathic treatments in connection with western medicine.       

I was deeply touched by a break out session titled Alternative Healing.  I was expecting a discussion on non-pharmacological treatments such and Tetrahydrocannabinol (weed/pot/marijuana) or acupuncture. I events brought a beverage to wash things down in case there were samples.  Haha!  Much to my surprise the discussion was on building better communication with your doctors!  This breakout session brought a welcoming aspect in giving homework items to the doctors involved with caring for yourself or a loved one.  For example, researching newer medications or reaching out to other specialist.  Hold on…in a two way communication highway, you or your loved one or care giver would be given homework, such as, documenting energy levels, symptoms for new and/or current medication!  

Miracles for Mito (MFM) was one of many support groups with a booth.  Attendees shared their stories at the MFM booth, at the awards dinner, and even in the lounge.  One thing is for sure MFM had an impact and our shirts were a hit.  Yes...connections were made spreading the word about MFM mission. 



My ability to step onto the plane could not have been possible without my support group.  As you may have read in my other blogs, I have a daughter with severe intellectual and physical needs who is living with a GRIN1 mutation.  She requires care 24/7.  Leaving her took all my might and took raw courage that I never knew I had.    It took a team of people under one sky to make it possible.



I am not alone in this journey!  Maria, Heather, Angela, and Lorene I loved the stories you shared because they helped pass the time.  Your friendships have deep meaning.  I am not sure who else I could crackup with while describing multiple visits to the Emergency Department, moments of flipping out as we advocate for our kids, obsessing over medications/calories/supplements, or how we function on such little rest. I hope you know you are part of my powerful village!


I must give thanks to MFM for inviting me to the conference and believing I would share my journey.  The vision for MFM continues to change my life in the most inspiring way! 

Much love,
Michelle D.  Voss-Shelley, APA (Mom to seven year old Aislinn with a GRIN1 mutation)

Thursday, July 31, 2014

Aislinn's Treasures- Alexis’ Bike Ride in the Rockies


Aislinn's Treasures- Alexis’ Bike Ride in the Rockies

I crack-up when my mom starts singing "Bicycle Race" by Queen when spring rolls around each year.  It seems to be triggered the moment registration opens for the Courage Classic for Children's Hospital Colorado Foundation. 

 
I want to ride my bicycle...bicycle...bicycle!
 
My mama and I joined Summits for Samantha (Summits) this year for the 25th Annual Courage Classic.    We had so much fun, food, laughter and excitement!  If you are looking for a team that trains, Summits trains pros or amateurs.  If you are looking for support and safety, Summits has it!  If you are looking for adventure, Summits have the best enthusiasts to offer!  If you are looking for a team that has transformed sorrow into beauty, devotion and purpose…Summits for Samantha is the cycling team to join. 


I think we sought the light from Summits for Samantha as much as it desired more riders. This trip would only be me and my mama.  Dad and Nurse Heidi stayed home to care for Aislinn.  The mountains make Aislinn sick.  Stupid seizures!

 


Ssshhhh!  So I have a couple of secrets to share with you.  The night before our ride I was sick to my stomach and my mommy had a migraine.  Roar!  We rode anyway!   Roar!  Nothing was going to stop us from riding!  Kids were depending on us.  My sister Aislinn was cheering for us at home.




Sshhhh!  My mommy worried about me crashing.  I could see it in her eyes.  I did not crash!  I would encourage you to ask my mommy about her meeting the trail with her elbow and helmet.  By the way, thank you fellow rider for fixing her chain! 
 
 


Alan Sirhal, one of our amazing teammates, rode back with us to Copper Mountain after lunch.  It is in his blood to serve and protect.  He encouraged and coached me up the hills even though my legs BURNED!  I will forever think of him as “The Shadow Rider” and I am glad I did not age him this year.   I love my Shadow Rider!





As we headed toward the finish line, David, another one of our awe-inspiring rider, took special care in riding behind me.  I was scared of the passing cars and tired from riding 17 miles!  I do not know his last name but he will forever be known to me as “The Cheerleader Leader”!  I love me Cheerleader Rider!

 

I saved the best for last.  I helped raise over $103,000.00 for Children’s Hospital Colorado Foundation by selling lemonade and popsicles!  I made a difference for families who need Children’s Hospital by riding on team Summits for Samantha!  I helped fund the Mito Clinic!  Roar!  Giving thanks...
 
 
 
 


Much love,
Michelle D.  Voss-Shelley, APA
(Mom to seven year old Aislinn with a GRIN1 mutation)