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.

 

Why a blog?

IMG_0048You are probably just as baffled as me. Why would you write a blog to get a diagnosis for your child? Well I knew Ben was special the minute he was born, I just had no idea as to the quantity. Those of you who know him and myself are aware that he had open heart surgery when he was 4 days old to repair his transposition of the great vessels (TGA). What you may not know is he also has dysgenesis of the corpus callosum, trachealmalasia, craniosynostosis, a dilated ureter of a kidney, hypotonia, developmental delays, ptosis of his eye, and I love this official diagnosis “congenital protruding ears”. When one has that many “specials” geneticists highly suspect you have a syndrome. Back in the day, a genetic doctor would look at you and go though her card catalog of faces and features and make an assumption. She would then have you give a blood sample to specifically look for that syndrome, as technology at that time would only allow for individual gene identification. Fast forward to 2015, specifically April 13th, 2015. My husband, myself, and Ben gave our samples of blood for whole genome sequencing. In short, they analyze the genes of the patient (Ben) and find any altered, missing, or duplicated genes. If they find one then they look at the parents genes for the same flaw. If one or both of the parents have the same flaw and are “normal” as in they do not have a syndrome, delays, abnormal features, etc., then the doctor can say that that gene is not causing the syndrome. What happened in our case is different. Ben was found to have a variant in the ZNF462 gene. Both my husband and I do not have this variant. So, is this the cause of all of Ben’s issues? No one knows. There are no documented variants to this gene that his geneticist can find. I left the office with Ben on September 10 (yes, it currently takes up to 6 months for a result) with 3 pieces of paper and the assurance that she would keep searching. I was also told that parents are creating networks for the undiagnosed and actually finding their own matches and answers! That’s great for the tech savvy uber mom but what about me? Well I’ve slowly acquired the skills and courage to throw it out there for everyone in hopes that perhaps it will resonate with someone. Stay tuned.