My results


I received my results several weeks ago but have been a busy girl since then. I’ve been filling out the mounds of paperwork and forms to receive In Home Support Services for Ben. I also attended the Rare Patient Advocacy Summit in Huntington Beach. So, drum roll please…..

As suspected,  I am 98.4% European with 65.6% of that being Irish and British and another 20.4% Broadly Northwestern European, with a splash of 6.8% French and German and 4.2% Scandinavian. I am also 0.9% Sub-Saharan African and 0.7% East Asian and Native American. Yes, I now feel like a pie chart!

I am “most likely” lactose intolerant. I inherited the C/T-13910 variant from each of my parents. People who inherit two copies of a variant in this region don’t make lactase as adults and are typically lactose intolerant. I do eat dairy but I cannot stand to drink a cup of milk. Maybe it’s just natures way of protecting me?

My weight is “likely to be similar on a diet high or low in saturated fat with the same number of total calories”. Sounds good to me.

I am extremely awesome. Not a result, just seeing if anyone is actually reading this.

I am “likely to taste certain bitter compounds”.  True, I find Jolly Ranchers and sour candy too overwhelming. I am also likely to prefer salty and savory snacks. Yup!

I am likely to be able to smell the asparagus metabolite in my urine. Yes I do, so happy for me.

My ancient female ancestors migrated throughout Coastal Western Africa over 30,000 years ago. That is determined through my maternal haplogroup. Maternal haplogroups are families of DNA that trace back to a single mutation at a specific place and time.

I am unlikely to flush after I drink alcohol. True.

I likely consume slightly more caffeine, specifically 9 mg more. I blame that on my 3 kids.

I have “power type” or sprinter type muscles. I won’t go there.

I am less likely a deep sleeper and I am more likely to move a lot during my sleep. True again.

I do not have a cleft chin, dimples, a unibrow, or widows peak genetically speaking. I indeed in human form to do not have the above.

I am likely to have dark hazel, light brown, or dark brown eyes. Hmmmmm, I always thought I had green eyes. Dark hazel it is.

I have detached earlobes.

I am likely to have light brown or blond hair, which is likely to be straight or wavy, and I was likely to be born with little to no hair. This one is all over the place! They should have just reported that I am likely to have hair on my head.

I am likely to sneeze when exposed to bright light which is called a photic sneeze.

I am likely to have fair skin with a lot of freckles. Check!

Finally, I am not a carrier for 39 rare genetic diseases.

23 and me found 1,533 genetic relatives all at least second cousins or greater. You can request to share your data with theirs. I have not dove into the family tree portion of this.

Overall, I thought 23andme was fun. It confirmed what I already suspected and did not provide me with any significant data. I was able to upload my “raw data” to other sites where you get an overwhelming amount of genetic information which I scanned over. What do you thinK?



I heart him


Great news on Ben’s heart. His cardiologist had nothing to say about his ECHO. His heart was described as “perfect”. Amazing! He is such a fantastic little boy. This is him during his ECHO, 2 years old and did not need sedation. He got by with the help of Signing Times on DVD.

That same day he also had his genetics appointment.  Looks like there are now 2 other persons in the data base that doctors have access to that also have a variant in the ZNF462 gene. From the limited information that is available to them they were able to determine that they also had craniosynostosis and they have issues with a droopy eye as well. So what’s next? I filled out a consent form to allow her to share information about Ben with the other doctors. She will also be sending pictures of Ben to see if the other people affected look similar to him. I let her know that she can share my information with the other families if they want to reach out directly to me. She really feels like we are on our way to finding out more about Ben’s affected gene. It’s exciting but scary too. This will not be a quick and efficient journey for us but I hope someday it can be for other families looking for answers.


Getting Involved


I’m the type of person that would rather fit in instead of stick out. I don’t mind things being status quo and if my boat doesn’t rock that’s fine by me. Then I had kids. With each new addition I became bolder, stronger, smarter, and more willing to ask for help. Ben certainly has helped me perfect and fine tune those skills. When you have a child with special needs you can either sit back and wait for help to arrive (trust me, it does not show up!) or you can get up and start doing your research. When I left the hospital with Ben after his first surgery I was completely on my own in understanding and caring for him. At 5 weeks old he had no voice because he had a paralyzed vocal cord, he had a feeding tube because the vocal cord should close together when you swallow to protect your airway, round the clock medications one of them being a heart rhythm stabilizer, twice a day injections for a blood clot which obstructed his leg all the way up to the bottom of his heart, and had yet to gain much past his birth weight. I knew there must be some sort of help for him to develop, grow, and thrive. I started with the Regional Center and Early Intervention. They were able to help provide services such as physical therapy, occupational therapy, education, and support. Eventually I was able to find an advocacy group called Parents Advocating Together ( They were able to help me understand what Ben should be eligible for and gave me the confidence and skills to pursue speech therapy. Now that I feel a bit more independent I stated this website. Ben also has a profile on It’s a website where you can register your child’s gene mutation and list their symptoms in order to find someone else with the same affected gene. I also started the application to participate in the Undiagnosed Disease Network, Their goal is “to improve diagnosis and care of patients with undiagnosed diseases”. On ward and upward.