Major updates!

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It’s been too long since my last post. Part of me just hesitates to share information that is not really mine, it’s my sons. I also realize that Ben’s dad and I do not see eye to eye on what to do with all the information Ben has provided to us. Then last week I received an email. From another mom. A mom of a son. A mom whose son has the same variant as Ben.  A mom who has been searching for answers, just like me. A mom who stumbled upon this blog and found some. A mom who wants to share too. A mom who gets a little relief knowing she is not alone. And a son. A beautiful son who looks like Ben. Who is smart like Ben. Who makes others happy, like Ben. One day there will be a mom who is pregnant. She will be told her baby has a syndrome. A syndrome which will have a name. A syndrome that involves a gene called ZNF462. There will be hope for her. She will be able to connect with us. She will be able to look forward to meeting her sweet, perfect baby. She will know that with help her baby will walk, talk, go to school, and make her heart melt every day. All that because of Ben and others like him who survived a genetic variant which resulted in medical issues they might not have survived with had they been born just a decade earlier. “We make a living by what we get, but we make a life by what we give.”-Winston Churchhill

My results

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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

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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.

 

23 and me?

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About 4 weeks ago I decided to live on the wild side and I ordered my 23andme kit. For $199 dollars I’m going to get a carrier status report letting me know if I have any inherited conditions I may pass along (pretty sure I do not), learn where I came from (Fall River by way of Europe and Canada I’ve been told), a wellness report so I can make better choices about diet and exercise (we’ll see), trait reports to see what makes me unique (not sure I had to spit in a cup for this one, pretty sure I know myself by now), and interactive tools I can share, compare, and discover (which I plan on sharing with you!).

The kit has been sitting my desk drawer for a few weeks now. I thought I would have torn into it immediately but I have to say about 10% of me was a bit hesitant. I wonder if my genetic report will comment on that! So today I took the plunge. I opened it up and inside I found a clear tube which you have to spit in until you fill it up to the line. Look how much spit you need:IMG_0409

Once you fill to the line you seal it up, put it back in the box, and mail it off. The mailing label is already attached and paid for. You register the sample online and answer some random questions about who you are and your past medical history. That took about 10 minutes. In 6-8 weeks I should find out more about me. I will report back with my results and my opinion of if it’s worth the $199.

The future

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This past Wednesday I attended a medical conference entitled “Newborn Sequencing of the Future” sponsored by the Rady Children’s Institute of Genomic Medicine. I was present both as a nurse and a mom. I must admit, about 50% of it was very technical, mathematical, and overly scientific for my day to day use but here are some pretty interesting takeaways from the presentation:

*We have been screening newborns routinely after birth since the 60’s for genetic conditions. Each state tests for different conditions. California tests for 57 disorders.

*Genetic conditions are the leading cause of death in PICU’s and NICU’s. The quicker you can get a diagnosis, the faster you can specifically treat the whole child, avoid unnecessary treatments, institute palliative care sooner if warranted, and bring more specific information to the family.

*One of the current goals in genetics is a low cost 24 hour whole genome test.

*Currently 28% of children who undergo whole genome testing get an actual diagnosis of a genetic disease.

*Creating a computer program or “machine” could increase the likely hood of getting a diagnosis to 51%

*De novo (occurring for the first time) mutations are the leading cause of genetic mutations. That means there is no family history of this genetic problem ever affecting any other family members.

It was really cool to listen to Dr. Stephen Kingsmore, the President and CEO of the Genomics Institute. His passion for the future of genomics was palpable. Everyone in the room who knew or works with him was pumped for the future. I am always amazed at people who have a gift and use it in a positive way to change many lives.

On a much less technical note, the picture above was taken at Legoland. We are so lucky to live in an area that has so much fun and has access to some amazing care for Ben.

 

 

 

 

 

Getting Involved

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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 (patsd.org). 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 mygene2.org. 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, rarediseases.info.nih.gov. Their goal is “to improve diagnosis and care of patients with undiagnosed diseases”. On ward and upward.

imageWhat would it mean if Ben received a diagnosis? First, perhaps most important to me today since I am feeling overwhelmed, is help. Help at understanding it all. Help in pointing me in the right direction. Help in my weekly fights with insurance and Early Intervention. Second, a diagnosis would help me predict and prepare for the future? Is he at higher risk for certain illnesses or condition? What does Ben’s future look like? Third, is community. Is there someone else out there like him? Can we connect and share our struggles, hopes, fears? Fourth, giving back. Can Ben help someone else? Perhaps there is someone else facing these same questions with a younger child with a similar gene. We could reassure them that Ben is worth it all, is sweet, loving, and smart. I love this picture because he never stays still long enough for me to catch the highlights in his hair. He was distracted and my phone was handy. Is also shows the amazing job Dr. Cohen did with his surgery on Ben’s skull.

On a lighter note, I am psyched to be attending the Rady’s genomics conference in a week and a half . It’s great to get paid to learn about something you love! ❤️