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.

 

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.

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.