Genes

I remember thinking a lot about genes before Ellie was born, mainly because I wondered whether or not she would have red hair like her daddy.  I remembered the basics from biology...red hair was a recessive gene, and I just knew that Ellie would have red hair...

Well, little did I know HOW much genes would consume our life and thoughts once she was born. Ellie wasn't born with red hair, but a head full of bright blonde hair.  Her hair was and is "Elsa" blonde, you know that white blonde hair that women pay good money for.  Her blonde hair and fair skin, come to find out is a characteristic of her genetic syndrome.  If I had a quarter for every time someone asked, "Where did she get all that blonde hair?" I would be rich!  While I am appreciative of them asking, I would be lying if it didn't sting and hurt every time I answer it. Her grandmother was a platinum blonde, so it very well could have come from her!

You see, Ellie's PWS is caused by a deletion on the paternal 15th chromosome...simply put, it means that part of her 15th chromosome is missing. The majority (70%) of individuals with PWS have the paternal deletion genetic subtype, like Ellie. Those with deletions may be fair-skinned with light hair compared to other family members.  If you know David and I though, you know we are a fair-skinned duo, so I think she gets it honest!

PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, individuals inherit one copy of chromosome 15 from their mother and one from their father. The genes in the PWS region are normally only active on the chromosome that came from the father. In PWS, the genetic defect causing the inactivity of chromosome 15 can occur in one of three ways:




We met with Greenwood Genetics before we actually received Ellie's diagnosis of PWS, and they "clinically" felt that she had Prader-Willi syndrome.  In our hearts, David and I felt she did too.  They talked with us about Angelman syndrome as well, and if the deletion had occurred on the maternal 15th chromosome, then she would have had Angelman syndrome.  It wasn't confirmed until her DNA methylation analysis test came back.

I remember Google being a blessing and an absolute curse during the days we waited on the diagnosis.  David absolutely, positively wouldn't go near the Internet regarding this.  I, on the other hand, had to know more.  I don't think there is ever a "good" way for a genetics office to tell parents that their child has a genetic disorder.  Our journey was raw, confusing, emotionally charged, and terrifying.  Looking back, I wish I knew then what I know now about genetics, but when you are in uncharted territory you just do your best.  We are so thankful to Greenwood Genetics Center for the care and compassion they showed us during our darkest days.  I remember asking our counselor (because we received a lot of news no parent ever wants to hear) if PWS was a spectrum disorder.  She confirmed that it was.  After that I asked, "so why is it that some children will be on the higher functioning end of it and others will be extremely low functioning?"  She had a very eloquent, professional answer, but this is all I remember...GENES...


It is likely that the thousands of genes outside the PWS region, which exhibit normal variation between individuals, also contributes significanlty to the variability in PWS symptoms between those with the disorder.  (http://www.fpwr.org/about-prader-willi-syndrome/)