Always Trust Your Instincts

When you have kids you don't ever anticipate them having to deal with something medically that can alter their lives. One of our biggest concerns was that E was going to inherit the hereditary cholesterol condition that Kyle has. 

This condition is called Familia Hypercholesterolemia Type 2A, which is caused by a defect of the 19th chromosome. It is characterized by high levels of cholesterol as well as high levels of bad cholesterol know as low density lipoprotein (LDL). This defect makes the body unable to remove the LDL from the blood, which can cause narrowing of the arteries at a very early age. Only one parent has to pass this gene onto their children in order for them to get it. If both parents carry this gene and pass it, it can create significant problems and be harder to treat. If this condition goes untreated it can lead to heart disease, heart attack, and stroke at an early age. It is something that should be taken seriously and treated accordingly. 

Kyle was diagnosed with this condition when he was 2 1/2 years old due to the fact that his Mom has it. He spent his life being on a restricted diet before he was able to be put on medication when he was 18.  He received exams with a pediatric cardiologist every 6 months until 16 and then was moved to a regular cardiologist. He now takes both lipitor and zetia to control his condition with routine checks. My MIL has a severe form of this condition, she only received the gene from her mother but it mutated. She has a treatment every 6 months called Lipid Apheresis that removes the LDL from her bloodstream and she pairs that with a variety of medications and diet control to manager her condition. At 35, she had a triple bypass and then several years later had a complete aortic valve replacement due to the calcified cholesterol. She has the rare homozygous version while Kyle and E have the heterozygous that occurs in 1 in 500 people. 

Why am I telling you all this? Well, because our sweet E was diagnosed with this condition a few days ago. Kyle and I discussed on several different occasions that we wanted to get her tested but I think we were both afraid. He knew what that would mean for her if she had it. I took her in on Tuesday morning to talk to her primary care doctor and she agreed to put in the labs. She said there are no studies regarding a 1 year old being tested but if I was okay with it so was she. I had zero knowledge about this condition prior to marrying Kyle so this is all new to me. 

At about 4:30 that day I received a phone call from the nurse. She confirmed what we already knew in the back of our minds. E has it. She said they have never seen a 13 month old's levels that high. Here are her numbers:

Cholesterol: 263 (normal range in a child is under 170)

LDL: 166 (normal range in a child is under 90)

HDL: 37 (normal range is over 35, she is borderline here)

This cholesterol level is high for even an adult male, so for a 13 month old it's scary. I was happy when the nurse said that before they even called us they had faxed her paperwork over to the children's hospital in Kansas City. She will see a pediatric cardiologist that specializes in lipid abnormalities. She will also see a nutritionist at this same appointment. So she couldn't be in better hands. Until we have that appointment we will work on her diet. No juice (she doesn't get that anyway), no flavored milk, limit starches, and lots of vegetables, fruits, and protein. Her labs will be re-done approximately 1 month before that appointment to see if there has been any change.

While diet, exercise, and medication can help with this, it is never going to go away. This is something that she will live with for the rest of her life as have Kyle, his Mom, and brother. At this point it is all about managing the condition and ensuring that she is healthy. There is no magic medication or alternative treatment that will cure it because it is a chromosomal abnormality. It's hard enough to deal with this as an adult but for a child it's even harder. I am so glad we know now so we can move forward with a plan.

If you wouldn't mind sending good thoughts our way it would be greatly appreciated.

Of course, E has no idea what is going on. She is still a happy and amazing little girl!