Need advice for genetic testing

Hi fellow parents,

My elder daughter who is now 4.5 yrs old has always been off the charts for both her height and weight. She is a happy and healthy kid with no other medical conditions. We as parents have realized the fact that she is a tall kid, my husband is 6'1 and I am 5'6. Her fast growth has slowed down in last year and would eventually hit a plateau. We all stop growing at some point, right? We try to keep her active in different physical activities to keep her weight under control. Her pediatrician at PAMF is concerned about her abnormal growth and we did several hormonal and growth factor tests to rule out any hormonal abnormalities. After these tests came out fine, the endocrinologist at Stanford referred us to genetic counselor. I was not in favor of visiting the genetic counselor as I feel the medical team is trying to push us into deep digging with further tests on the basis on that something somewhere has to be wrong with my daughter. We did go through genetic counseling but did not get any extra information or reason on why my daughter needs it. The MD and counselor did a lot of probing o her developmental milestones and behavior which is not lacking in any way. My prenatal genetic screening was also normal. But, still these doctors want us to go through gene panel testing to identify if she is at risk of developing certain life threatening conditions later in her life. I want to know if other parents have been through similar experience and share their thoughts? 

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I don’t have the personal experience, but just want to suggest that you go ahead and have the testing. I don’t think it could hurt, and there is some chance it could help. The prenatal genetic screening only looks at a very small number of conditions, so I wouldn’t use that as a factor in your decision. It sounds like 2 doctors have agreed; why not seek a 3rd opinion?  It sounds like two careful (?) medical professionals have agreed it’s a good idea. Again, I think the chances it will help are far greater than the chances that some harm would come by doing the testing.  If they find something, you’ll know what (if anything) to do; if they find nothing, it sounds like you’re going to have great peace of mind. Wishing you the best. 

This is so hard, and there is no right answer. It's so scary to have professionals wondering whether there is something "wrong" with your child and you absolutely don't wan't to ignore something if paying attention to it now will prevent difficulties later. BUT, it sounds like you are pretty sure your child is okay and being told to worry that she is not. We tend to mistrust our instincts with our kids since there are so many people who are actual experts, but I urge you to put your own understanding of your child on a level playing field with the health professionals saying you should do additional testing and diagnosis. You are asking all the right questions -- what is the benefit of going down this diagnostic path vs risk of not. It's really just the beginning of many similar decisions in parenting, and all you can do is be thoughtful and clear with yourself and your partner about how you are making these decisions so that no matter what happens (she's fine vs turns out she has some intervenable condition) you don't have any regret about not being thoughtful enough! Good luck to you.

These doctors are experts with years of training and experience with countless children, and they believe there might be something unusual about your daughter’s genes. I don’t understand your resistance to having that information. It is entirely possible that her unusual size is going to increase as she approaches puberty. You have no basis to assume it’s going to normalize. My kids are also off the charts on height and weight, but my husband and I are both extremely tall. If we weren’t, I would be concerned.