Research

by Todd

I’ve spent a small fortune gaining access to as many different medical journals as I could. None of them have done me much good except to let me know there’s not a lot of information out there. So, I’m trying to put together as much information as I can on chromosome 6 deletion kids and what issues are affecting them.

How You Can Participate

Research File

Research File

I’m attaching an excel file to the left that includes Katy’s information along with every issue I’ve found facing kids with 6del at this time. If you would like to include your child’s information (as much or as little as you like), please simply download the file, check whichever boxes apply to you and then e-mail the file back to me at “todd (at) hope4katy.com” . Please let me know if there is a symptom or issue not included that you would like added and I will take care of it.

All of us who have received this diagnosis have been told some variation of “This is an extremely rare case and there is not much information available.” At least this feels like a start to me.

Thanks for participating.

Todd

{ 12 comments… read them below or add one }

Laura C October 25, 2010 at 10:44 pm

Hi Todd,

I tried to send the file to the listed address, but it was “rejected by the recipient domain”. Please help!

Reply

Todd October 26, 2010 at 7:57 am

Laura- Sorry about that. Something has happened to that account. Please use: “todd@hope4katy.com”

Thanks for helping out!

todd

Reply

Miguel September 5, 2012 at 1:27 pm

Hello, my daughter is 11 months old and has develomental delays. The neurologist had blood work done and also order an MRI. Well today the DR called us and told me that my baby was missing part of chromosome 6. He did not specify. But he was going to refer us to the genetics department. The neurologist stated tha he has never seen this before. My baby also has a sacral dimple , blue eyes and I believe that the right eye is not aligned. Please get back to me !

Reply

Todd September 5, 2012 at 2:56 pm

Miguel-

I’m glad you found the site! As you can probably tell, I don’t update it as often as I should lately. Life happens, I guess.

While Chromosome 6 deletions are extremely rare, there are a number of cases out there and they are growing every day. For most of us, facebook is the main way we help each other out and communicate. Many of us participate in a chromosome 6 group at https://www.facebook.com/groups/chromosome6/

If you’re on facebook, Elizabeth McPherson is the main moderator for the group and can make sure you get an invite if you search for her and friend her and let her know your situation.

The geneticist will let you know what your daughter’s actual deletion is which will help you get some better understanding of what your daughter will face. From what you’ve said here, she does share some characteristics with Katy, though!

I wish you and your family the best. Please feel free to contact me with any questions you may have.

Todd

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Sierrah January 26, 2013 at 9:00 pm

Hi there, my son has chromosme 6q deletion amoung other issues but I cannot use the file. My phone downloads it but I cannot view it. I have no other way to view it. Let me know if I can help some other way, thanks.

Reply

Nicki Stead April 14, 2013 at 3:08 pm

My son is 13 months old, he has chromosome 6 deletion. He was 2lb 6oz when born, and now weighs 12lb. He has had major heart surgery to repair a large VSD, he also has an extra little finger and an extra little toe, cronic lungh diesease, hes pretty much like a new born baby, he has just started focusing on me and dad.
He has been to see a geneticist, however she could not tell us much as she said the part of chromosome he has missing is unique to him, is there anyone out there who has a child with the same problems as my wonderful son? it would be great to hear from you.

Reply

Todd June 10, 2013 at 12:19 pm

Nicki-

Sorry it’s taken me a while to get back to you. Life has gotten in the way of blogging for quite some time. Hopefully by now, you’ve discovered the chromosome 6 group on Facebook. We’re in the process of putting together a comprehensive list of symptoms and diagnosis so we can have a better overview of what’s going on in our little ones’ lives.

Todd

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kasey deanda May 22, 2013 at 8:45 pm

My daughter has small piece attached to chromosome 6. Im having hard time understanding it she 3 yrs 7mon

Reply

Todd June 10, 2013 at 12:14 pm

Kasey –

Hopefully you’ve discovered the chromosome 6 group on Facebook. The community there has the best chance of being able to give you more information. If you need help finding it please let me know.

Todd

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Holly July 30, 2013 at 3:49 pm

Hi Todd,

I stumbled across your website today and am feeling so excited! In Jan my husband and I took in 3 foster children, the youngest of which has been diagnosed with a deletion in chromo 6. I don’t have his actual string numbers here at work, but in reading on your website sounds very similar. Cody (5) came to us in Jan. nonverbal and very little for his age/size. We have watched him progress rapidly, he talks now and is flying through his ECSE IEP goals. I have looked and looked for more information on this so that we can better support him as he ages and when he finds a forever family. I would love to chat with you about anything you have learned. One thing about Cody is that past research is tough to use as a predictor because of his background and the conditions that he has been in up to placement at our house.

Looking forward to your response

Reply

Todd August 2, 2013 at 12:33 pm

Holly-
I think it’s wonderful that you and your husband are caring for a child with these issues. Katy has made massive improvements over the course of the last year and a half. Unfortunately, I’ve been so busy, I haven’t done a great job of updating the site! Soon, soon, soon!

Hopefully, you can gain access to the entire karyotype so you’ll have a better idea of where Cody’s main problems may lie. I say that for two reasons: first, they break down c6q deletions now into three main categories basically 11q15q, 16q-25q & 25ter. Each of these “main” categories has some common features associated with it. Even then, though, none of it is set in stone.

If you have some specific questions, please let me know. Also, you’ll find a lot of information on the chromosome 6 board on facebook. It’s a private group run by Elizabeth McPherson. Let me know if you need help gaining access.

All the best to you and your family,
Todd

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Cathy November 26, 2013 at 6:27 pm

Hi Todd,

Wondering if you are still out there. My daughter Laina is 19 months, we went to a metabolic specialist 9 months ago and last week we were told she has a deletion on the long arm of chromosome 6. My daughter is tube fed via NG tube x 5 months now. She wasn’t eating enough and was wasting away. I have lots more to say but I will see if you reply. I would really appreciate to hear from. I haven’t read too much on your site yet. But I have found it a wonderful support, I really hope your still out there to write to.

Reply

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