Isla’s Story

Site created on September 16, 2022

Welcome to Isla's CaringBridge website. We are using it to keep family and friends updated in one place. 
 
For those of you less familiar with Isla's story, I'll go back to the beginning.... Cliffs Notes style.  When I was pregnant with Isla many moons ago, my pregnancy was flawless, even my labor was textbook until delivery.  Isla entered this world in rough shape with the cord wrapped around her neck twice as well as her ankle, white as a sheet, blue lips and not breathing.  She sparked a 'code blue' in the hospital and as the delivery room flooded with people, we prayed.  Once she started breathing we thought we were in the clear.  About a day later one of the nurses noticed she was breathing much more rapidly than normal.  This set off a NICU stay with many more tests.  One of which resulted in a cardiology follow-up appointment when she was a month old.  It was then that we discovered our sweet little Isla had a heart condition.  She was diagnosed with Idiopathic Dilated Cardiomyopathy.   Idiopathic means, "unknown cause."  For years and years we were left with more questions than answers for Isla. 


The next several years were followed by more challenges, more specialists and more tests.  With everything going on I knew in my gut that it all had to be connected somehow.  When Isla was 9 years old, we finally had the genetic testing needed in order for us to discover she has an extremely rare mutation of the ALPK3 gene.  A key indicator of this genetic disorder is that patients often present with Dilated Cardiomyopathy  that evolves to Hypertrophic Cardiomyopathy later on, which happened to Isla around age 9.  Her short stature and other physical attributes are also attributed to the ALPK3 mutation.  


Since we found the cause of her health problems to be genetic, the whole family underwent testing in 2019.  Justin and I learned that we both have the ALPK3 mutation - pathogenic (a genetic alteration that likely causes problems) variant and that any children we have together have a 25% chance of receiving both copies of our ALPK3 gene and cause serious problems, a 50% chance that they would receive one copy and be a carrier, and a 25% chance they would have neither mutation.  Isla received both copies, Elin received mom's copy, Etta received neither, and Otto received dad's copy.  Well, can't say we aren't statistically accurate! Currently Justin, Elin, Otto, and I are on a 2 year cycle with cardiology for monitoring as the data is finding that a person with one copy of the ALPK3 mutation has a higher probability of developing cardiomyopathy in adulthood.


But back to Isla because that's who this site is all about.  Our sweet, smart, and sassy girl is going to need a lot of love and support in the coming months and years.  I needed a place to give everyone updates about our journey, and honestly a place for me to get my thoughts down on "paper".  Thank you for loving our sweet girl and being on Team Isla.  We love and appreciate you all! 

Newest Update

2 Month Update

Journal entry by Ashley Hall —

It's been 2 months since Isla had her heart transplant on December 21st. She is getting used to being back at school (though not getting used to waking up early) and figuring out the new normal.  We have officially graduated to monthly appointments and heart caths. Woo-hoo! All her labs continue to trend in the right direction. She had a heart cath yesterday and her heart is functioning beautifully. Unfortunately her artery is narrowing / collapsing so at her heart cath on March 15th she will get a stent placed. Isla is not looking forward to another night in the hospital and I can't say I blame her.  Her team has assured us that this is very common for transplanted hearts. The narrowing happens at the point where the native artery is stitched together with the donor artery. Apparently this happens to about 1/3 of transplant recipients. Isla is a little bummed and frustrated that she's not in the 2/3 of people who don't need a stent. 

Isla confided in her school counselor today that it's hard because it feels like so many people think that because she had her heart transplant that she's fine now, but she's not. Her heart is better but there are still so many hard things she's dealing with. Hufflepuff explained this to us once by saying, "a transplant isn't a fix... it's trading one likely fatal condition for a hopefully long but medically complex life." We're all trying to adjust. 

That's all for now as this mama is TIRED. Wishing you all warmth and wellness.  Until next time...

#IslaStrong #TeamIsla

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