Cracking the Code: Understanding Rare Chromosome Disorders

[lizzymcpherson]

If you register with Unique and CDO (at the end of this video) you can get information about your child's disorder as well as connect with families who share c2 deletions.. ALSO, I believe there is a chromosome 2 Support Group on Facebook as well.

[j61325]

hi we just found out that son chromosome 2 deletion anyone else know someone with this or have info on this please thank you xx

[leahweitzman]

I have this affecting my family in the most weardest way my 2 youngest don't share what they have, Jazz has deletions in the 22nd (DiGeorge from her dad) & Arayl has deletions in the 7th & a ring in the 13th with deletions too... I've been told that no one has found anyone with Arayl's combo...

[babymumma89]

@lizziemcpherson. Do uno how I can find this or what I need to type in FB, in order to find it

[babymumma89]

@lizzymcpherson.: thank you for your reply.,When our son was born, we were given the Unique information sheet, but still it can be confusing. We are flying to a Children's Hospital in regards to hopefully get more information, assessments and tests .. but thank you. I will try and find the facebook group.

[lizzymcpherson]

@babymumma89 We do have other families in the c6 FB group with deletions of that area who also live in AUS. :)

[babymumma89]

I have spent many months trying to find someone out there who suffers from a chromosome deletion but no one replies. . My son was born with Chromosome Deletion 6q Deletions from 6q26 and 6q27. The name is hard to remember but i jsut need people to talk with. He is 15 months and has a developmental delay and i wish youtube didn't have a character limit. because i just want to share more. please some1 write tome

[lizzymcpherson]

@babymumma89 ... Unique and CDO are the two non-profits who can give you information and connect you to families-- their websites are in this video at the end...There is a Chromosome 6 Facebook group as well--with families who have that particular deletion. I suggest visiting those places. The facebook group is private, so you'll have to request to join and email one of the administrators with your karyotype in order to be approved.

[girlchristian1]

Thanks for this video Elizabeth, I echo great job - my Amy has a partial duplication of chromosome 16 on the short arm.

[scorpionlucky20]

@girlchristian1 what part??? i have a friend who has a daughter with 16p13.2 dup

[dizneefeeks]

@scorpionlucky20 Amy has 16p11.2 - 12.1 and she has the VLCAD mutation on chromosome 17p13.

[julespopcorn]

@girlchristian1 Hi. Where does your friend live? I have a son with 16p13.2. I know 1 other person in the Huston area.

[mumof3hamiltons]

@julespopcorn hi my son is 2 yrs and has 16p13.2 

[icupfreely23]

Just for the learning :

Down syndrome ( trisomy 21) is not actually a disruption in genetic code but a extra 21st chromosome.

[lizzymcpherson]

@icupfreely23 Trisomy 21 (Down Syndrome), is an alteration of the genetic code, which is how it is addressed in this video.

[DavidValensky]

Nicely done video with a lot of love, caring and empathy for families who are going through the same kind of situation with a Down Syndrome child. There is good information on the video, excellent interviews and a nicely designed presentation.

[charityquilter]

Elizabeth what a GREAT job on this video you and your husband have done!!! What a great accomplishment for all involved in the making of this video!

I am your moms friend Dar. My great nephew was born July 30th with genetic disorders. I am forwarding this on to the family. Thank you so very much!

Dar