Aislinn’s Treasures: Just Grin
by Michelle

 

Over the course of Aislinn’s life, a lot of energy has been spent talking to her specialists at Children’s Hospital Colorado and primary care pediatricians.  Some questions were answered but more were left dangling.   The common thread was always “we don’t know” and “science needs a chance to develop” and “she is a medical mystery”.  Ugh in other words, current testing had been exhausted which left a tie with science.  Excitingly, the tie began to tip in Aislinn’s favor in the last four months!   After seven years and seven months of research, newer science is revealing some answers regarding Aislinn’s condition and HOPE is prevailing. 

 

Two key things have recently come out that are significant in learning and understanding her overall condition.  They are a discovery of very low iron stores through a Ferritin test and a gene mutation found in the results of her whole exome sequencing test (extensive DNA testing).  During the last few months, Aislinn’s iron stores have been coming up slowly using an iron supplement in her daily feeds which has helped reduce bruising, restless legs, and added a bit of energy to her day.   However with great excitement, I am about to share the results of Aislinn’s whole exome sequencing test.    

 

In a meeting with the genetics team at Children’s Hospital Colorado, we learned Aislinn has a gene mutation involving a broad category that doctors sometimes refer to as “channelopathies” - meaning diseases of ion channels in neurons, of which the N-methyl-D-aspartate receptors (NMDA) receptor is one.   Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.[1]  Glutamate receptor, ionotropic, N-methyl D-aspartate 1 or GRIN1 is a protein-coding gene and is a subunit of NMDA.   GRIN1 and other subunits have an important part in the plasticity of synapses, which is believed to underlie memory and learning.  Aislinn’s specific mutation is in GRIN1 and is not present in me or her daddy. Deep stuff, right? 

 

So what does a GRIN1 mutation mean for Aislinn?  It means she is one of three known cases with a GRIN1 mutation whom are similarly situated.  It’s probable that it is the cause for her intellectual disability, global seizures, sleep difficulties, tachycardia, sinus tachycardia, dysmotility, and hypotonia.  It involves careful consideration of medicine dosages due to her ability to metabolize them.  It causes the need for more research of which she will be a part of through the University of Colorado Denver and Emory University School of Medicine.  It signifies hope because there is a movement to create medicines/treatments based on gene mutations to help mitigate physical and intellectual deterioration.

 

At last, I am able to drop the dreaded baggage of guilt that her condition is not tied to something I did or did not do during my pregnancy with her.  Hooray! I did not realize the how much the baggage weighted down my spirit and tugged at my smile.  With a spring in my step and song in my head, I am free to conitnue trailblazing! Once again I am able to GRIN from the inside out!     

 

Much love,

Michelle D. Shelley, APA (Mom to seven and ½ year old Aislinn with a GRIN1 mutation and unspecified Mitochondrial disease)

 

For more information on a case study used to explain Aislinn’s GRIN1 mutation, please read  Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability from The American Journal of human Genetics.

 

 

 

References

^ Robert S. Kass (2005). "The channelopathies: novel insights into molecular and genetic mechanisms of human disease". Journal of Clinical Investigation 115 (8): 1986–9. doi:10.1172/JCI26011. PMC 1180558. PMID 16075038 

Aislinn's Treasures: Electric Friendships
by Michelle

Life is sparked with all kinds of things. There are dark points in life where one longs for relief.  There are periods of hope that pulls one out of the darkness.  I believe both are needed to help one live life to its fullest.  Life's jolts can also be a chance encounter with a stranger, love at first sight, birth of a new family member, besties for life, or rekindling a long lost friendship.

 

Recently I have had the great fortune of rekindling a long lost friendship with Fred.   The innocence of our friendship dates back to when I was a grungy little tomboy playing soccer. The easiness of our friendship has picked up without judgment, painful comparisons, or pity. Fred is a kind hearted spirit with other special girls in his life which makes an ideal friend for me.  Knowing and following my journey with my daughter Aislinn, he offered to give me his season tickets to see my first Colorado Mammoth's game. Hooray! You see, there is always an inherient risk that I cannot make an engagement due to Aislinn's frail health but that did not matter to Fred.   He was willing to risk a cancellation and even reschedule if need be.

 

Fate was on my side because I was able to make the game with him, his son, my healthy daughter, and my sister.  It was a night that I did not have to worry about Aislinn's unexpected seizures, timely medication, bodily fluids, priming a nightly feeding bag, and painful muscle spasms.  It was a night full of good music, fireworks, and electricity.  It was a night for recharging both mentally and physically.

 

As much as I love Aislinn, l know it is healthy for me to take stolen moments just for myself.  It is easier said than done.  I wished I had the words to describe how much it meant to me to have a night to escape the stress, exhaustion, and mental anguish of caring for Aislinn.  Words of gratitude come to mind.  So I will say, THANK YOU, Fred, for a night on the town.  My hope for you is that your kindness will somehow arc back to you!

 

This month Miracles For Mito has a grant program to help other families recharge.  Check it out. You may be granted a night to recharged.  A night on the town just may make you feel more alive.  You just may find a dear friend such as Fred!  Thanks to Fred's electric friendship, I plugged back into life and I am still buzzing with energy.

 

Warm regards,

Michelle D. Shelley, APA (Mom to seven year old Aislinn living with an unspecified Mitochondrial Disease.)

Aislinn’s Treasures: The Great Ball of Fire
by Michelle

 


We are on the eve of hearing the results of the exome sequencing (extensive DNA testing) test for Aislinn.    For seven years and seven months, I have been waiting for this moment where modern day sciences lead to a diagnosis.  In the pit of my stomach sit two balls of fire.  One ball of fire is of great despair and the other one of is of great hope. 

 

A slow and painful fire creeps into my stomach and gains strength.  It is the great ball of fire glowing with despair.  There are no sparkles in this fire.  It burns dangerously hot with a readiness and desire to take my sanity from me.   In having a diagnosis, it might mean a known end to her already frail life.  It might mean my grandchildren will suffer the same journey.  Stomp! Stomp! Stomp!  I stomp with all of my might to suffocate this ball of fire.

 

The great ball of hope is fueled by the relief of being given a diagnosis and the chance to compare it to how she presents herself, meaning her current mental and physical abilities.   I will revisit the appropriateness of her current treatments and therapies.  I will explore new ways to help improve her quality of life through the help of her specialists, therapists and more.  Wait for it…wait for it…  WAIT…FOR…IT… will the diagnosis lead to a cure for Aislinn?

 

A cure is my biggest hope.  With a cure, a melody of fireworks explodes from the pit of my stomach.  A cure means hearing her say “Mama I love you!”  or “Hey Daddy you are funny!” or  “Mine!”  or “No!”   It means sibling rivalry.  Oh yes, how I would love to see Aislinn and Alexis screaming through the house in ear piercing decibels.  It means the end of further debilitating seizures, feeding tubes, and diapers.  It means days running in the park and the freedom from needing a wheelchair.

 

As the results are revealed to me in the next few days, I must hold onto a thought that knowledge is power.  In this power, it is up to me to keep stomping out the disparaging great ball of fire and turn my energies to fueling the beauty of the great ball of fire of hope.   Today, I chose HOPE which is Aislinn’s given middle name.  The Great Ball of Fire containing HOPE will prevail. 

 

Warm regards,

Michelle D. Shelley, APA (Mom to seven year old Aislinn living with an unspecified Mitochondrial Disease.)


Aislinn’s Treasures: The other child
by Michelle

So much time is spent caring for Aislinn, it is easy to get swept up into the chaos.  The chaos can be anything from appointments with specialists, ordering medical supplies, working on a request for FMLA, addressing daily living needs, washing or folding massive amounts of laundry, swinging on the dangling ropes of a certain waiver, tracking the side effects of a new medication, tracking the waning effects of a trusted medication, and the list goes on…

 

On the out skirts of this tornado-like chaos sits the rest of my life.  This part of my life waits patiently for the storm to clear or leaves never to return for whatever reason.  There is no in-between.   

 

I cannot blame them for leaving because in the scheme of things, I am not available most of the time.   Weathering the storm means I will have cancellations, multiple rescheduling, forgotten birthdays or engagements, crankiness, pure exhaustion, short tempers, and delayed gratitude.  I do cherish those with the guts to weather the storm and anchor me.  There is much beauty to witness when the storm is over.

 

Some of my faithful few would be my husband, other daughter named Alexis, sister, and parents.   I believe the person most affected by the vortex of the storm is Alexis.  She is pulled in and spit out without warning.  Alexis is sometimes in the eye of the storm helping with emergency packing, hand-patrol for feeding tube replacements or explosive diaper changes, running for needed supplies or relaying instructions.    She is an anchor just outside the storm as I nudge her aside when the situation is critical, in moments of weakness, or it’s just too much for a nine year old to understand.  

 

One of my greatest fear is Alexis will leave too.  By having a sibling with a mitochondrial disease, she will leave because she has had enough of the burden and darkness.   I know that day was not Sunday night since we snuggled up and fell asleep talking.  I know it was not yesterday because she was excited to read me the script from her school play.  I know it is not today either.  Today it was important for her to share the pending removal of her braces.  She says “only five more weeks Momma!”  Thankfully, I am still being blessed with another chance to make things better for Alexis…to do right by her.  I am still the momma she needs and loves.  She is my healthy child who brings much strength during the storm and a beautiful rainbow after it.  She is “the other child”.

 

 

Warm regards,

Michelle D. Shelley, APA

(Mom to seven year old Aislinn living with an unspecified Mitochondrial Disease)

Aislinn's Treasures: Genie in a Bottle
by Michelle

Beauty, dreams, magic, and miracles come in different forms.   They all reach us at some point in our lives if we just open up to chance.   Ever wonder what you might do if you found tarnished bottle on the shore of a lake, ocean or other body of water?     Would it catch your eye or would walk by discarding it as trash?  

 

As for me, it would catch my eye.   I know there are treasures in the less likely things in life I.   I would hope in a sheer stroke of luck it contained a sparkling Genie.  A Genie so happy to be free he or she would see that I am worthy to be granted wishes or given a little magic.   

In my chance encounter with my sparkling Genie, I would explain the last month or more has been brutal for Aislinn.  She has had two surgeries, a setback in her recovery, gram positive Urinary Tract Infection (UTI), gram negative UTI, and a perforated eardrum that may have caused a loss in hearing.  It is months like these I yearned for her to have enough words to tell me where she hurts or to have enough skill to be able to point to where she is in pain.  I would also share that over her entire life of 7 ½ years it had been sprinkled with fool’s gold or misfortune involving sickness, seizures, and multiple surgeries all while being non-ambulatory and non-verbal.    

 


As I bonded with my Genie, I would share the periods of hard luck in being Aislinn’s big sister.  Alexis is Aislinn’s big sister.  Alexis has a beautiful spirit despite being frequently y nudged aside as we tend to all of Aislinn’s daily living and medical needs.  It kills a piece of my soul each time. 

 

Enlightened by my words, my Genie would deem me worthy by granting me three wishes.  Imagine my new found fortune.  How would I spend the three wishes?  Fame?  Endless riches and money?  Greedily wish for more than three wishes?  A full body makeover?  Hmmm a full body makeover is very tempting but I know I can get there on my own if one key wish is granted…

 

My key wish is an immediate cure for all mitochondrial diseases.  It is obvious, right?  Let’s look deeper… In permitting this wish, Aislinn would be able to take care of her own age appropriate daily and medical needs.  Fancy her instantly being in good health, free of seizures, able to eat by mouth, able to run, and speak for herself!   She would say, “I love you Mommy!”  Oh yes, this would be my wish!   Her collection doctors would no longer be baffled or challenged by her condition.  My days of deciphering her clues… vanished!  Nudging Alexis aside would no longer take place.  The family would no longer be imprisoned by Aislinn's mitochondrial disease!  Finally, more time to care for myself and morph back into the body I had in college! 

 

One power packed wish could do all of it for me and leave me with two final wishes.      Having all I need, the two remaining wishes would be bequeathed (given) to my daughters.   Sitting at a new found peace, the Genie and I would enthusiastically wait for my daughters’ wishes to unfold!

 

Warmest Regards,

Michelle D. Shelley, APA

(Mom to Aislinn a seven year old living with an unspecified Mitochondrial Disease)