DD has a rare genetic disorder.

[Mergath]

We just found out today that dd has 16p11.2 deletion syndrome, which means that she's missing part of her 16th chromosome and may end up with intellectual disabilities or autism, and will almost certainly have, at the very least, some kind of learning disability to deal with.

 

Does anyone know of any support groups for genetic disorders in general that are active? I've been looking, but it's hard to plow through the mountain of info out there. There are a ton of foundations and organizations, but I'm having trouble finding actual message boards. Thanks!

 

(Cross-posted on the general board)

[Ottakee]

I don't know of any. Does it have a name as well as the numbers? Are there any health/medical issues with this as well?

 

My girls have mitochondrial disorders. As of our last specialist appointment, they were the only 2 known cases in the world to have both a neuclear DNA mutation and a Mitochondrial DNA mutation. 14dd has a 3rd mutation as well. We are dealing with learning delays (14dd is mentally impaired), lots of health issues, small size (14dd is done growing at 4'9"), and mental health issues.

 

It is hard as the doctors have no prognosis at all to give us as know one else has this so we are the test cases so far.

[Mergath]

I don't know of any. Does it have a name as well as the numbers? Are there any health/medical issues with this as well?

 

My girls have mitochondrial disorders. As of our last specialist appointment, they were the only 2 known cases in the world to have both a neuclear DNA mutation and a Mitochondrial DNA mutation. 14dd has a 3rd mutation as well. We are dealing with learning delays (14dd is mentally impaired), lots of health issues, small size (14dd is done growing at 4'9"), and mental health issues.

 

It is hard as the doctors have no prognosis at all to give us as know one else has this so we are the test cases so far.

 

Nope, no name. From what I've read, it doesn't have enough unique symptoms and there isn't enough known about it for them to give it a name. Or something like that.

 

Along with the autism and intellectual disabilities, heart defects are also fairly common. Dd has a heart murmur, but nothing more serious at this point, which is good. A lot of kids also have bowel problems, and some have physical abnormalities, though thankfully dd doesn't seem to have either of those. Our dev ped said that it can cause general organ problems, though I haven't read anything about that other than the heart defects, so I'm not sure what he was talking about.

 

Yeah, it's hard when they don't have enough information to give you much of a prognosis. I don't want lots of children to have this, obviously, but at the same time, it would be nice to not feel quite so alone...

[chiguirre]

Mergath, have you had your dd evaluated by your 0-3 child find program yet? They won't be able to give you specific info about the deletion, but they can offer identification and therapy for any delays your dd currently has. My boys were already 3 when we moved to the US, but I used them to follow dd's progress and they were very helpful.

 

If you do discover any specific delays, you can get lots of good information and support right here :D or at other internet and real life organizations. Even if the genetic cause is distinct, autism resources or specific LD resources are fairly easy to find and you'll get lots of good ideas for hsing here.

[RamonaQ]

First off, :grouphug:.

 

As a former molecular geneticist, my thought is to contact a human geneticist who is studying this deletion. They might know of possible resources, or at least could comment on the rarity of this type of deletion-- which might help you feel less alone. I am going to PM you a name that I found.

[Mergath]

Mergath, have you had your dd evaluated by your 0-3 child find program yet? They won't be able to give you specific info about the deletion, but they can offer identification and therapy for any delays your dd currently has. My boys were already 3 when we moved to the US, but I used them to follow dd's progress and they were very helpful.

 

If you do discover any specific delays, you can get lots of good information and support right here :D or at other internet and real life organizations. Even if the genetic cause is distinct, autism resources or specific LD resources are fairly easy to find and you'll get lots of good ideas for hsing here.

 

DD has speech therapy once a week through Early Intervention right now, and we're in the process of setting up extra private speech and physical therapy. (We would have started it already, but apparently it takes five weeks to fax a sheet of paper. :glare:) She has been diagnosed with speech and gross motor delays, so there are definitely some problems related to the deletion.

 

I guess part of why I'm having trouble finding support groups is that we don't seem to fit anywhere... A lot of the groups for developmental delays seem to be mostly moms with kids who are just late bloomers and don't have any underlying issues, while the groups for parents of kids with genetic disorders are mostly centered around children with much, much more severe problems. And dd doesn't have any autistic symptoms at all as of yet. So I'm sort of scratching my head right now about where we fit.

[Mergath]

First off, :grouphug:.

 

As a former molecular geneticist, my thought is to contact a human geneticist who is studying this deletion. They might know of possible resources, or at least could comment on the rarity of this type of deletion-- which might help you feel less alone. I am going to PM you a name that I found.

 

Got it. Thanks again for the info. :)

[TravelingChris]

Unfortunately, welcome to the world of very rare disorders. I have one with a condition that has been identified in 196 cases worldwide. At least we really hope that is the case with her since it would meant that she will soon be free of the disorder since it goes away with puberty and she is 13. On the other hand, it was very hard to find a specialist. I completely agree with a previous poster to find someone who knows. We went through much anxiety and wasted time with people who dismissed our concerns and had no knowledge. Good luck.

[PuddleJumper1]

Our 8 year old has a rare chromosome deletion. We have found these organizations to be very informative:

 

Chromosome Disorder Outreach http://www.chromodisorder.org/CDO/

CDO has a yahoo group which I have found to be very supportive. They have a vast data base and offer family networking to connect people that are dealing with similar situations.

 

Unique http://www.rarechromo.org/html/home.asp

Unique is based in England but they have lots of members from the states and around the world. Wonderful group. The also offer a data base and family networking. I haven't been on it in a while but they also have a forum of sorts with very supportive people.

 

Both organizations have registries to contact people with any information available and other families in the same or close situation. Both organizations have periodic publications. We found both of these groups invaluable when we trying to find other families dealing with our deletion.

 

We've found that even though other children have different deletions than our son we all share a lot of the same struggles and our children have some similar struggles.

Edited May 7, 2010 by StillLearning

[ReneeK]

Our dd is the only known child with her chromosome deletion. They think it might be a variation of another rare syndrome but they are unsure at this point. They think more so that it is a stand alone syndrome. If that makes sense:D

 

We are all over the board with fitting in also. We don't fit in anywhere because my dd isn't severe in her abilities in most areas.(she isn't wheel chair bound, can talk, ect..) We also don't know if she will overcome her delays. As far as we know she could be considered severe one day. We just don't know.

 

It is difficult not knowing what to expect a few years down the road. I have found most children with any syndrome face alot of the same challanges in general. It is easy to relate to other moms even if the syndrome is not the same. We all have the same concerns, frustrations, we need hugs and sometimes just letting someone listening to us cry, and vent because we are stressed out.

 

Those are great sites for disorders! Thanks for sharing.

 

I have heard that Families together is a great support group and that they have chapters all around the states. I have never attended one. The days they meet don't fit in my schedule. I talk to the moms all the time at my dd therapies.

Edited May 11, 2010 by ReneeK

[Lisaroe]

hi-I have read most of the responses :iagree:- the Early Intervention Programs ran by the schools are very good- The Service Coordinators try really hard to match mentor parents that have gone through the process before (their child may not have the same disorder) Use those mentors. My daughter's disorder is so rare that when she was diagonised. We could not find anyone in the United States with it. Our Pediatrition put us on The list and found some parents in England that had a child with the same disorder. Over time we have found quite a bit of information about her disorder (esp. Since they mapped the Chromosomes) The following link is one I recommend they provided the most information and have been very supportive. http://www.chromodisorder.org/CDO/

God Bless You. Lisa :grouphug: