We got the results back on your cholesterol test. Good news is that your cholesterol has doubled! The bad news is that it is still lower than anyone would think possible. 7.7 mg/dl. None of your SLOS friends even have numbers that low. Strange thing is that your 7-DHC is also up a bit to 116. Here’s how it should work in layman’s terms, best that I can understand:
7-DHC is a basically a precursor to cholesterol. The normal range would be anywhere from .04 to .36 ug/mL. Too high a level of 7-DHC is toxic. A normal body gets rid of 7-DHC by using an enzyme to break it down into a usable form of cholesterol . So ideally, as the 7-DHC goes down, the cholesterol goes up and vice versa. In your body, however, the genes responsible for creating the enzyme to break down the 7-DHC are mutated. So those levels are very high for you – currently 116ug/mL. But this is up from last time we did labs. I don’t see how your cholesterol and 7-DHC went up together—there should be an inverse affect.
I really have to become aggressive about getting the specialists to look at you. The main issue is funding—there just isn’t enough of it to go around. But truly, you are a wonder child. I don’t even know how your body can function with a cholesterol number so low. It sheds light on why you are more than two years old and still not doing what a three month old can. Our doctors are fabulous, but none of them are very familiar with SLOS. So I emailed the specialists back in March, thinking they would love to get their hands on you and see how and why you are surviving. Only one responded. His study doesn’t seem like it would be super beneficial to you. However, it won’t hurt you at all either, so if that’s our only option, we will do it. But I am hoping the other two will show interest also. We just have to figure out why your numbers aren’t increasing. And since what we are doing now obviously isn’t working, we need to find a more efficient way of getting cholesterol into your system. Or even better, a way to give you the enzyme needed to break down 7-DHC. And I need to get started on your 3rd birthday fundraiser now, so that we can help contribute to finding these answers.
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Amber,
My name is Whitney Peper and I work with RE/MAX of Texas the regional office and I found out about your beautiful daughter through your old RE/MAX office. I have been keeping up with your posts since Audrey was born and have read the posts everytime they are posted and said prayers for your angel. I am a charity and event coordinator for RE/MAX and raise money for Children's Miracle Network throughout Texas and my niece too has a been a life long patient at TCH. She is fighting different issues than Audrey, but just a rare and puzzeling to doctors.
I have read that you would like to do a birthday benefit for your daughter and I would like to volunteer my services and help to you with planning the event and doing anything possible to help you raise money.
You can email me at
wpeper19@gmail.com
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