Logan has a mutation in the DYNC1H1 gene.
Kevin & I do NOT carry this mutation. This gene in Logan is known as a De Novo Mutation - meaning a genetic mutation that neither parent possessed or transmitted. However Logan did inherit a gene variation (gene GRIA3) from me that has "unknown significance" this is different than a mutation. And not to be focused on.
We have an appointment with a Genetic Counselor in mid August but we did have appointment already scheduled with our Neurologist last week. We picked his brain but he could only give us minimal information so here is our take on what he said:
This gene mutation is what caused the Ventriculomegaly.
The job of this gene is to transport proteins and is a big part of neuronal migration. This gene assists with the development of the brain - it helps move things where they are suppose to go. When there is a malfunction, the space still gets filled. In Logan's case - his ventricles dilated & his corpus collosum is undersized.
Other facts to be known about this gene:
- this gene is known to result in intellectual disability
- prominent lower extremity weakness
- sensory deficits
- muscle atrophy - hypotonia
.......check, check & check - this is Logan.......
This is the answer we have been waiting for. This is what makes Logan tick.... a bad shuffle in his otherwise perfect genes.
There is absolutely nothing we can do about it.
We had/have a huge list of questions. More geared for the Genetic Counselor but nonetheless we asked some - one in particular that will, unfortunately, be seared in my(our) hearts forever:
Me: "What are the chances of Logan passing this along to his future kids"
Doctor: "I don't think Logan will have kids"
Me: heart dropped
Me: "What makes you say that"
Doctor: "Because of his intellectual capacity"
Done with you Doctor Ian Butler.
We walked out without making a follow up appointment. Someone clearly poked him with the pessimist stick one too many times. Either that or he's never met parents like Kevin & I.
This kid will go places - we will make sure of it.
Big hugs Momma! We've had one of those doctors also. She flat out told me Jackson had less than a 20% chance of beating cancer, ever regaining his motor deficits, and he would likely die within 18 months despite treatment, well if only she could she him now! I hated her, for months, I hated her. She crushed my spirits and damaged my optimism, regardless of how hard I tried to push those words out of my mind. Remember those drs. are hardened and often heartless because they aren't emotionally vested like we are. They are supposed to never give false hope, tell us those crushing odds, blah blah, right...yet, there are doctors that will BELIEVE in Logan, just like you! The strides Logan has made already are inspiring! He just does it on his time and there is no reason to believe he won't move mountains one day! Keep being the awesome advocate you are for him, he's blessed to have you as his mother! xo
ReplyDeleteUggg!!! How dare him:( Grrrrr!!! Hugs momma!!!
ReplyDeleteAwh Erin, keep your stride.... you're doing such a wonderful job raising Logan, he will surely be a huge success. You did good mama... don't ever give up hope! - Love, Julie W (soon to be "B")
ReplyDeleteHugs to you all! Logan will thrive because of the love from Kevin and you and that's what matters the most!
ReplyDeleteHi there, I'm soooo happy! I've just found you by google. My son has been diagnosed with a mutation on the DYNC1H1 gene.He is 6 years old. Please contact me.... stefaniaclelia@hotmail.com or just look at Fb
ReplyDeleteGreetings from the Netherlands Stefania Corbey