Isla Hall

First post: Sep 16, 2022 Latest post: Feb 21, 2024
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! 
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