Newborn Screening Family Stories

Karley Sue's Story (CPT2)

Hello, this is about Karley Sue Williams. She is just like any other 8-month-old except she has CPT2, a rare Genetic disorder. This disorder was detected in a new born screening test required by the state of Ohio. Without this test it could have been days or weeks before doctors would have found out what they were feeding Karley was slowly killing her. The frightening thing is that Karley did not have days or weeks to wait for symptoms to start showing. But because of this screening that the state requires for all infants she did not have to wait. Sadly, this screening is not done in all states.

In many states this test is not a required test for all newborns. What does this mean? It means that many of these children go undiagnosed and do not receive the proper treatment as early as Karley did, which could result in death before a diagnosis can be reached. That's why we are asking the U.S. Congress to make the Karley Sue Williams Law. This Law will force each state to add the new metabolic screening to their newborn Screening test. This will find many metabolic disorders in days after birth, instead of waiting weeks, which could result in a fatal outcome and many broken hearted parents.

So as Karley gets older and requires more energy she may develop heart or organ failure. Karley is currently in heart failure, and has only 41 percent heart function. Karley can also experience muscle weakness and pain that feels like a charley horse. Karley's activity level is limited due to possible complications.

At this time, Karley is receiving the correct treatment under the care of Dr. Gerald Vockley, Pittsburgh Children's Hospital Genetics Dept. His treatment is offering us hope for her future. Although this treatment is difficult and Karley has many hurdles to climb we do know she is under proper care. And as we travel down this difficult road of treatment and complications it is important that we remember that we are not just going through this struggle for our Karley but also for any other families whose children may be found with this same condition.

With this rare long-term illness there are many bills to pay. In Karley's 8 months of life, she has experienced 14 hospital stays, 2 Life Flight by helicopter, and 4 road ambulances. This comes to a total of around half a million dollars and counting! That's why we are asking for a donation and prayers. If the lord has lead your heart to donate please send it to the Woodsfield Church of Christ, In care of the Karley Sue Williams Fund, 680 Lewisville Rd, Woodsfield Ohio 43793, trustee Keith Jones, Family Life Minister .

Thank-You for taking the time to read this and may God Bless You ten fold,

The James and Becki Williams Family
jameswds1@aol.com

To help you understand what all this actually means:

CPT2 ( CARNITINE PALMITOYL TRANSFERASE DEFICIENCY Type 2) has to do with the transfusion of the enzyme cpt2 inside the cell. Ok, when looking at a cell, there are 2 shells to it, an inner and outer shell. On the inside of the inner shell is the mitochondrial that is the furnace that burns fat for energy. The fat is carried there by the enzyme cpt2. So from beginning to end the steps go like this:

STEP 1: A tiny piece of fat (also call long chain lipid) is picked up and is hauled off to be burnt for energy.

STEP 2: As it heads into the cell it is attached to enzyme CPT 1 that takes it through the outer shell.

STEP 3: Then it is handed off to enzyme CPT 2 that transports the fat through the second shell and into the furnace or mitochondria.

The CPT enzyme required for step 3 is what Karley doesn't have. So the third step cannot be completed. Therefore energy cannot be delivered to the muscles that require fat for energy. These muscles include the heart and liver.

(Please take the time to call your local Congress Representative, asking them to support the Karley Sue Williams Law, Thank You)