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Carterís diagnosis - GRIN1 genetic mutation *UPDATE*

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Carterís diagnosis - GRIN1 genetic mutation *UPDATE*

Old 10-30-2017, 05:42 AM
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Default Carterís diagnosis - GRIN1 - *UPDATE* GoFundMe added

If you saw my THT absence and return thread months ago, then you know some about our son Carter and whatís heís gone through since birth. Since that post, Carter has gone through a fundoplication surgery and had a gastrostomy tube installed back in August to stop his constant vomiting. He also had eye surgery last week to correct crossing. The stomach surgery has been a blessing. We havenít seen vomit since we left the hospital 2 months ago and heís a much happier and somewhat attentive baby. His eyes definetly arenít crossing as bad and his focus seems much better too.

We have been waiting on the results from his second genetic test. Those results came last week, finally. Carter has a specific mutation of his GRIN1 gene. This explains all of his issues; intellectual disability, developmental delays, vision issues, low abdominal muscle tone, and neurological functioning. They have found this gene has a lot to do with learning, intellectual ability and memory retention. Not much is really known since there are only 20-something known cases worldwide, and his specific mutation is the only known case. Very little can be found on the internet and we are waiting on an appointment with the geneticist to go over the previous cases findings and our nexts steps. The good news is this doesnít seem to be degenerative or shorten his life expectancy.

From the little bit of information we have gathered, the issues associated with this mutation seem to vary with each case. Some suffer from epilepsy, Carter doesnít as of now. Others have better abdominal muscle tone and can sit unassisted, Carter canít. We do know that his case is spontaneous and wasnít passed down from my wife or me.

Iím not sure what our future may bring, but we are now part of a very very small community made up of people from all over the US and several other countries. My wife joined a GRIN1 Facebook group and found there is actually another ďgrinnerĒ about an hour away in Louisiana. The others are spread out all over from FL, NY, CA, CO, etc. She is learning a lot from the other parents in the group and hopefully weíll know a little more after the next genetics appointment.

Thanks again for all of your thoughts and prayers for our little man. This has been quite a journey. My wife started a Facebook page documenting some of Carterís progress if you would like to check it out. My Carter Man Can





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Last edited by davidwademarine; 07-03-2018 at 05:21 AM. Reason: Updated title
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Old 10-30-2017, 06:01 AM
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I'm not always sure how to respond on threads like this, words typed just don't always seem to come out the way you want them to, but good to hear you guys are getting more information. Your little man looks adorable and adventurous. If nothing else, you guys will always have THT family in your corner. Will keep you and yours in our thoughts and hope your future holds calm seas and favorable winds.
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Old 10-30-2017, 07:30 AM
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I was very sick when I was just a little older than your boy. I know it was a huge drain on my parents - but they found support and hope in each other and it went a long way to making us a much tighter family.

You have a wonderful little boy, best of luck to your and your family.
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Old 10-30-2017, 08:26 AM
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My heart goes out to you and your family. It tears me apart when I read about things like this and I don't know the correct words to say like oldsaltydog says.

I pray that Carter gets better and life becomes easier for all of you.
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Old 10-30-2017, 08:32 AM
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Very cute and happy looking boy. Sorry for the news but know he has some very loving parents that he's blessed to have and glad is he is doing better after the procedures.
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Old 10-30-2017, 08:36 AM
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Been dealing with a Gtube for my daughter for about 2 years now...PM me if you want to chat...figuring out how to feed her was a nightmare and weíve came a long way. We feed her mostly real food blended with a formula base and it has made all the difference.
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Old 10-30-2017, 08:38 AM
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I wish you the best.

Let me know if I can ever do anything to help.

Im intimately familiar with a pretty similar situation (unfortunately).

Ill look you up on fb.

Stay strong for your wife and kiddo.

Praying for you brother.

Rob
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Old 10-30-2017, 08:48 AM
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Originally Posted by olsaltydog View Post
I'm not always sure how to respond on threads like this, words typed just don't always seem to come out the way you want them to, but good to hear you guys are getting more information. Your little man looks adorable and adventurous. If nothing else, you guys will always have THT family in your corner. Will keep you and yours in our thoughts and hope your future holds calm seas and favorable winds.
I can't say it any better than this so.......
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Old 10-30-2017, 09:02 AM
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Very sorry to hear of your challenges. He is a cute kid, and it's definitely easy to tell he is in good hands.
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Old 10-30-2017, 09:12 AM
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Good luck to you and your family, and especially Carter. He's a cool little dude already.
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Old 10-30-2017, 11:00 AM
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Those pictures say it all. As a father of three ( 1 son, 2 daughters) your words are beautiful: spoken like a true father who loves his son. I hope God brings you peace and brings Carter healing.
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Old 10-30-2017, 12:17 PM
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Wow. There is a lifetime of surprises and struggles ahead of you. I am 19 years down the road with my son. He had meningitis shortly after birth and has half a brain. He is blind, has cerebral palsy , epilepsy and is mentally disabled. While I am not a GRN1 dad, I am a dad of a disabled kid and my youngest developed epilepsy at 13, or 3 years ago.

Your son is handsome and I am not going to lie, having special needs kids is a tough road regardless of the cause,but it is a road filled with amazing highs and honestly dark lows. If you ever need to talk or what ever , drop me a line.

For the record, my son Kyle, who is 19, LOVES boating. He loves flying on the tube behind the boat at 25 mph. He loves to swim. He loves life and he is an amazing human being. As Stevie Nick's says... see sometimes it's a bitch , sometimes it's a breeze....

Hope he continues to grow and stays healthy.
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Old 10-30-2017, 02:57 PM
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We went through a similar situation 33 years ago, when our son suffered a series of strokes that left him permanently disabled. His medical condition was only known back then to affect female Japanese children. Since then, that condition has been found in a few other people across the USA and we have found a support group.

Having a special needs child of any kind is tough on a family. Support groups can help. I pray your family is blessed with the strength to deal with your situation, as we have been with ours.
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Old 10-30-2017, 07:37 PM
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Originally Posted by SmokyMtnGrady View Post
Wow. There is a lifetime of surprises and struggles ahead of you. I am 19 years down the road with my son. He had meningitis shortly after birth and has half a brain. He is blind, has cerebral palsy , epilepsy and is mentally disabled. While I am not a GRN1 dad, I am a dad of a disabled kid and my youngest developed epilepsy at 13, or 3 years ago.

Your son is handsome and I am not going to lie, having special needs kids is a tough road regardless of the cause,but it is a road filled with amazing highs and honestly dark lows. If you ever need to talk or what ever , drop me a line.

For the record, my son Kyle, who is 19, LOVES boating. He loves flying on the tube behind the boat at 25 mph. He loves to swim. He loves life and he is an amazing human being. As Stevie Nick's says... see sometimes it's a bitch , sometimes it's a breeze....

Hope he continues to grow and stays healthy.
Just so you know, I know what you are saying.

I think it is awesome your son loves boating

Cherish every day brother.
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Old 10-30-2017, 07:39 PM
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Originally Posted by yarcraft91 View Post
We went through a similar situation 33 years ago, when our son suffered a series of strokes that left him permanently disabled. His medical condition was only known back then to affect female Japanese children. Since then, that condition has been found in a few other people across the USA and we have found a support group.

Having a special needs child of any kind is tough on a family. Support groups can help. I pray your family is blessed with the strength to deal with your situation, as we have been with ours.
Sorry to hear that brother, glad to know you are spreading knowledge/experience.

It will help someone sometime down the road
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Old 10-30-2017, 07:44 PM
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I wanted to add this too as I didn't take time the first go 'round:

That is a great looking kid!
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Old 10-30-2017, 08:17 PM
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Ever since I had my daughter I care about kids more now then ever before.
Seeing/reading/hearing of this breaks my heart now.

I donít have the words ... but know you guys are being thought and prayed about ...
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Old 10-31-2017, 05:04 AM
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Thanks again to everyone. Most wonít know what a few words of support will do to help you get through your day. Also, knowing there are others that have the strength to get through much worse than we we experiencing will definetly put some wind behind your sails. Sometimes a little push is needed to keep you on track to go to the ends of the Earth for your child.

Originally Posted by skipperwork View Post
Been dealing with a Gtube for my daughter for about 2 years now...PM me if you want to chat...figuring out how to feed her was a nightmare and weíve came a long way. We feed her mostly real food blended with a formula base and it has made all the difference.
Carterís tube is actually just for venting his stomach after the fundoplication. He still eats his solids and liquids orally. He doesnít have aspirating problems. My wife has been looking into the blended diet though just in case he gets to a point where he eats though the tube. Thanks for your offer to talk. Iím here as well if you need anything.

Originally Posted by SmokyMtnGrady View Post
Wow. There is a lifetime of surprises and struggles ahead of you. I am 19 years down the road with my son. He had meningitis shortly after birth and has half a brain. He is blind, has cerebral palsy , epilepsy and is mentally disabled. While I am not a GRN1 dad, I am a dad of a disabled kid and my youngest developed epilepsy at 13, or 3 years ago.

Your son is handsome and I am not going to lie, having special needs kids is a tough road regardless of the cause,but it is a road filled with amazing highs and honestly dark lows. If you ever need to talk or what ever , drop me a line.

For the record, my son Kyle, who is 19, LOVES boating. He loves flying on the tube behind the boat at 25 mph. He loves to swim. He loves life and he is an amazing human being. As Stevie Nick's says... see sometimes it's a bitch , sometimes it's a breeze....

Hope he continues to grow and stays healthy.
These are the stories that I love to hear. It especially helps new special needs parents, like ourselves, to understand that your child can still have a happy and fulfilling life. Having a special needs child will give you a whole new look on everything. If you ever think a task is challenging, just think about what they go through every day just to live. Good luck to yíall and thanks for sharing.

Originally Posted by yarcraft91 View Post
We went through a similar situation 33 years ago, when our son suffered a series of strokes that left him permanently disabled. His medical condition was only known back then to affect female Japanese children. Since then, that condition has been found in a few other people across the USA and we have found a support group.

Having a special needs child of any kind is tough on a family. Support groups can help. I pray your family is blessed with the strength to deal with your situation, as we have been with ours.
My wife wants to get something locally started for parents of undiagnosed children/families. It seems like thereís a group for almost every issue out there, but hardly anything available for families without answers. She will be starting a new marketing job soon, so hopefully she can use some of their resources to get it off the ground. Thanks for sharing your story.
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Old 11-26-2017, 06:19 AM
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Just an update. We had a follow up with Carterís geneticist and a genetic counselor last week after receiving his diagnosis in October. They answered a few of the questions that we had, but a lot of unknowns still remain. It looks like this wonít affect his life expectancy, which was our biggest fear. There is no need for any more genetic testing and they seem very confident that this is the cause of his issues. His specific mutation is the only one known that has been confirmed through genetic testing. We learned some generic information about GRIN1 mutations and some other specific cases information. There are no current clinical trials or testing, but that doesnít mean there wonít be in the future. There is an annual GRIN1 conference, but the costs of traveling to Europe will keep us from ever attending.

Carter has potential, but he will be intellectually and physically disabled for the rest of his life. How much? No one knows. We have him in as much therapy as we can all handle, but he will most likely be under our care for the rest of our lives. This will also probably be our only child as there is no way to tell if my wife or I could pass this on or if this was just a spontaneous mutation that occurred during development. The process to determine if another child will have the same issues is very expensive, exhausting and can only be done post-conception.

Iíll never understand why this had to happen to our little man. He has done nothing wrong and doesnít deserve this. This is something you canít prepare for. There is no book to go by. I doubt it would be any easier even if we knew about all of this before he was born. Iíll never stop loving him, pushing him or fighting for him, but I never imagined I could be so happy, sad and mad all at the same time. Iím an optimistic person but I see how pessimism and depression can grip someoneís life and not let go, if they allow it.

Thanks again for all of the thoughts and prayers everyone. We sat down at Godís poker table and have to play the hand we were dealt. All of our chips are on the table and thereís no folding. Carter will have the best life that we can provide. There will never be a lack of effort, love or support from us. I will go to the moon and back for my man. Follow his Facebook page, if you would like, in my original post for updates as life goes on.



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Last edited by davidwademarine; 04-07-2018 at 04:19 AM. Reason: Fixed pictures
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Old 11-26-2017, 06:33 AM
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We keep Carter in our daily prayers. I am really happy to see Carter doing better.
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