Monday, February 1, 2010

A simple Blood test could have prevented so much...

*Please NOTE: I am not a physician or a medical professional in any way and the information contained here is simply my interpretation of what my child's doctor explained to me today. Any questions or concerns you have about this post I would recommend you discuss with your own physician.

So about a month ago I brought both my children in for some bloodwork that was ordered by their psychiatrist. It was a genetic blood test that looks at DNA typing as a way to prevent adverse drug reactions and it was something that she just recently started ordering for her patients, especially those who seem to be not responding well to medication. This blood work tests an individual's ability to metabolize drugs using certain enzymes that we possess.

Why is this important? Through scientific research it has been shown that the safety of many drugs depends on the rate of drug metabolism accomplished by a certain family of enzymes. If you are deficient in these enzymes, or if they are overactive, and a medication that you are taking is dependent on these enzymes in order to be metabolized, then you can experience adverse reactions to this medication. There are other medications that inhibit these enzymes and what that means is if you are taking one of these medications and at the same time you are taking another medication that needs this enzyme to metabolize it then you are decreasing the effectiveness of that medication, or exposing yourself to a higher risk of an adverse reaction.

In layman's terms, say your child is taking Risperdal or Abilify, both of which depend on the enzyme CYP2D6 to metabolize it but your child has a deficiency in this enzyme. Then those side effects that are listed for that medication are much more likely to occur for your child than any one else who does NOT have that deficiency. This medication is also LESS likely to be effective for your child. Now say, on top of that, he is taking Benedryl which also relies on CYP2D6 for metabolizing. Now the effects are even worse.

If we take the same child on Risperdal but with NO deficiency in CYP2D6 but then add in something like the antidepressant Amitryptiline (Elavil) which acts as an inhibitor of CYP2D6 then your child is still at risk for those side effects from the Risperdal because the Elavil is inhibiting the enzyme which is making it less able to metabolize that medication. Does this make sense?

Now, for my children, not only were they deficient in one of these enzymes (so much so that it is completely inactive in their systems) but they were deficient in TWO of them. Some medications can metabolize on more than one enzyme so if you are deficient in one but not the other one that it can metabolize on then you have a higher chance of being okay on this medication. The two that my children are deficient in are the ones that most medications in the psychotropic medication list needs (CYP2D6 and CYP2C19)and this explains why we have been having such a hard time with medications.

Not only psychotropic medications are effected. There are many medications (analgesics like Advil and Celebrex, antihistimines like Benedryl or Zyrtec, Antidepressants, anticonvulsants, stimulants and ADHD medications, etc) that are also dependent on these enzymes for metabolizing. I cant tell you how many medications I have taken that have either made me SO violently ill that I ended up in the ER or so irritable or moody that I felt like a completely different person.

Justin was on a medication that combined with his Risperdal (which we now know he should not have been on) caused him to be suicidal. Tyler was on Singular and after only one day became suicidal. We had tried him on two different anti-depressants and he was hallucinating and was so hyper that he didn't sleep for 36 hours straight. Now he is on Allegra and just recently started becoming suicidal again and we had no idea why this kept happening.

We are now in the process of weaning Justin off of Abilify (another medication that he should never have been put on) and because of the CYP2D6 deficiency we have to go extremely slow because he is much more prone to the serious Tardive Dyskinesia side effect that some children experience when coming off of this medication than other children are. But this also explains why when we tried to increase this medication his irritability increased dramatically.

All of this could have been avoided with this simple bloodtest and I encourage everyone who has a child who is either on, or you are considering putting them on, any psychiatric medications to have your doctor order this bloodtest. Because both of my children have this deficiency it means that either their father or I also have this deficiency. I am betting that it is me because I have a lot of problems with medications. It seems that there are very few medications that I can take that dont have a negative effect on me in one form or another which is why my fibromyalgia is so impossible to treat. If you find yourself being oversensitive to medications this might be something you might want to look into for yourself.

Another thing, it is also possible to have TOO much of this enzyme which means that they require a lower dose of a medication than most other people. The danger with this is that if they are given a normal dose for their age/weight they could possibly overdose on the medication.

One more thing, there is a breast cancer medication out there that is getting ALOT of publicity because of this very issue and they have found out that patients who have this deficiency in CYP2D6 should NOT take the medication Tamoxifen especially in conjunction with any of the antidepressants that rely on CYP2D6. This combination has been seen to not only reduce the effectiveness of Tamoxifen but has also been shown to possibly increase your chance of recurrence of the cancer. So if you know anyone with Breast Cancer or receiving Tamoxifen to prevent Breast Cancer (usually if they have a high family risk) then please warn them about this and suggest that they have DNA typing done to test these enzymes.

I hope you found this helpful. Please leave me a comment and let me know.


  1. Thank you. If we ever get to the point where we're going to medicate Kaitlyn (if someone can tell me for sure that she has ADHD) then I will definitely be asking them to do this test. We're already worried that she won't be able to take the medication because of a family history of stroke.

  2. I know that Adderall, Strattera, Concerta and Ritalin are all medications for ADHD that are metabolized on the CYP2D6 enzyme so if there is a chance that she could be deficient in that enzyme it could cause problems. Also, if it shows that she overproduces it, which is another issue that this test shows, then it is possible to overdose on the medication at doses that would be normal for other people.

  3. Were you at the Autism One conference?

  4. I hope you will consider biomedical therapies for your children if you haven't yet! is a wonderful starting resource.

    Also check out Kerri Rivera's Healing the Symptoms Known As Autism. The CD is known to help with many other health issues also! It treats gut issues...parasite detox. Please look into it!

    I hope you and your boys are all healed one day.

  5. Is there a specific name for the test? or will my doctor know what I'm talking about if I say it checks on the CYP2D6 enzyme?

  6. Wow. That explains a lot. Thank you for sharing such important information.

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