Diagnosis from the Genetic Doctor

We saw Dr Kayser, who is a geneticist, this week and received a diagnosis we are comfortable with for now. We will have additional conversations with our pediatrician and seek wisdom from the Lord as we move forward.

He diagnosed her with hemihypertrophy.


The following is directly from a website that he directed us to (for the complete article if you are all that interested you can read it at healthline. com). I just copied the highlights that pertain to Rylee.

Hemihypertrophy, more correctly termed hemihyperplasia, is defined as the enlargement of one side of the body or part of the body.

Hemihypertrophy is characterized by unequal (asymmetric) growth of the limb. The size difference can involve only a specific part of the body such as a finger (called simple hemihypertrophy).*

The cause and exact mechanism of isolated hemihypertrophy is not known. The asymmetry occurs most likely as a result of an increase in the rate of cell growth, or unregulated cell growth.

Isolated hemihypertrophy occurs in about one in 86,000 live births.

As with other overgrowth syndromes, there is an increased risk for childhood cancers in people with isolated hemihypertrophy (about 6%), particularly cancers of the kidney (Wilms tumor, 3% of individuals), adrenals, and liver.

A protocol to screen for childhood cancers has been proposed, which includes abdominal ultrasound every three months until age six, every six months until puberty, and careful medical follow-up of patients into adulthood. Surgical intervention is appropriate if cancers are detected. Monitoring of serum alpha fetoprotein levels may also be useful as a marker of hepatic tumors.

Hemihypertrophy does not alter lifespan, although complications from associated abnormalities such as childhood cancer and mental retardation** can cause problems. Asymmetry of the limbs can interfere with their proper function and cause pain. Insecurities due to disfigurement are possible and can be addressed through support groups or therapy.***

*Since only Rylee's arm is affected she has what is considered simple or isolated hemihypertrophy.

**mental retardation is NOT a concern in Rylee's case.

***they forgot to list prayer...

So what's next? We will begin to have ultrasounds and blood work every three months as recommended to monitor the increased risk for childhood cancers as stated in the article. But to us a 6% increase is not something to be overly concerned about. That means there is a 94% chance that all will be fine--I'll take those odds anyday!

That being said, the important thing is that our God is bigger than percentages. He is bigger than odds. He is bigger than this diagnosis. He has a plan and a purpose for Rylee's life and has formed her exactly the way she is suppose to be formed. I believe with all my heart God has a special purpose for Rylee's life (as with all of us). I look forward to seeing how God will touch our precious girl and grow her into a beautiful woman who knows Him, loves Him, and follows Him with all of her heart.

For you created Rylee's inmost being; you knit her together in my womb. I praise you because Rylee is fearfully and wonderfully made, your works are wonderful, I know that full well. Rylee's form was not hidden from you when she was made in the secret place. When she was woven together in the depths of the earth, your eyes saw her unformed body. All the days ordained for her were written in your book before one of them came to be. How precious to me are your thoughts, O God! How vast is the sum of them! Were I to count them, they would outnumber the grains of sand.
Amen