Diagnosed.

Ellie has a diagnosis.

I never thought this day would come but I never stopped hoping and praying it would.

A whirlwind of emotions… validated….hopeful…sad….thrilled…scared….

She has Paternal Uniparental Disomy 14 or Paternal UPD 14. What this means is that humans normally have 46 chromosomes, 23 from mom and 23 from dad. In Ellie’s case, the 14 chromosome inherited 2 copies from dad and none from mom.  According to rarechromo.org, here is what we know: 

These features are typical for a child with both chromosome 14s from their father:

• Excess amniotic fluid during the mother’s pregnancy

• Low birthweight

• Small chest and narrow ribcage, causing

underdeveloped lungs and severe breathing

problems

• Short arms and legs

• Abdominal wall hernia. A visible ridge of muscle

runs from the breastbone to the navel. Surgery may

be needed if a hernia develops

•Omphalocele. Part of the intestine protrudes at

birth through a large hole in the abdomen near the

navel

•Moderate to severe learning difficulty

•Unusual facial features, including small ears,

protruding upper lip, small eyes, hairy forehead and

short neck.

This condition is extremely rare and not much is available about it on the internet. Our amazing fabulous Dr. Lawson Yuen said Ellie was the first patient she had ever come across with this diagnosis and says she will become an expert on it :) She is so wonderful and we love her so much. She made this possible for us. She never gave up on us. Not just from a patient to a doctor but from one mother to another, I am forever grateful. 

We will update everyone as soon as we know more!