Has anyone heard of a disease that mimicks Down Syndrome, but isn't?

[cricket1178]

My friend has a dd that was born down's but has been talking to some people who say the baby may not be down's but maybe this other disease that just looks like down's. They say when the child grows up she'll be normal. Has anyone heard of this?

[chiguirre]

I don't know about a disease that mimics Down Syndrome, but if your friend's dd has genetic testing she'll know for sure. Down Syndrome is caused by having 3 #21 chromosomes. That's why it's also called Trisomy 21. I "think" it's standard procedure to do the genetic screening on any baby suspected of having DS.

[Alice]

Down's is a chromosomal disorder. You either have it or you don't. There are lots of physical characteristics that suggest Down's but the diagnosis is to look at the chromosomes...if there are three chromosomes 21 then it's Down's (or Trisomy 21 which is the other name).

 

I can think of a few things that the people might have been referring too:

 

1) Some of the characteristics of Down's can also be found in people who don't have Down's. So if a chromosomal analysis has not been done it's possible that the baby "looks like Down's" but may not be.

 

2) There is a very very rare situation called Down's mosaicism. This means that some cells have that extra chromosome and some don't. In this situation there is no way to predict exactly what characteristics of Down's the person will have. Some may have none of the outward characteristics but will have learning disabilities or some of the other health issues. Some may have all the outward facial features but normal intelligence and health. There was recently a story about a child with this on NPR...he does not "look like Down's" but did have some learning issues. The controversy was that his mother chose not to tell him until he was much much older (I think he was 16) so that the teachers in school would treat him the same as the other kids and that he wouldn't "use his Down's as a crutch" (her words not mine). Maybe your friend's friends heard that show and are referring to this...but it's really really rare. And even so the chromosomal analysis should show that it is mosaicism so this should be known now.

 

3) People with Down's syndrome have a wide range of abilities and disabilities. Maybe they are somehow referring to this.

 

Bottom line...the baby needs to have a chromosomal analysis done. The diagnosis should be clear at that point.

[G5052]

I have a friend in my hometown who has a child who did indeed "grow out" of some of the Down's symptoms. This is in a state that is considered "medically underserved," and they thought for years that he had Down's and that was that. Then he began to exceed their expectations, and she took him to a specialist out of state who verified that he did not have what people traditionally call Down's syndrome. He has aspects of it still, but not entirely. I don't remember what the term for it is, but of course I was thrilled to hear of his progress. I think that this is the exception though.

 

Bottom line -- if I had a Down's child, I would get a full analysis and regular rechecks from a specialist, not just a regular ped doc. Friends who have these dear children always tell me that's absolutely essential to do this if you can swing it.

[TraceyS/FL]

2) There is a very very rare situation called Down's mosaicism. This means that some cells have that extra chromosome and some don't. In this situation there is no way to predict exactly what characteristics of Down's the person will have. Some may have none of the outward characteristics but will have learning disabilities or some of the other health issues. Some may have all the outward facial features but normal intelligence and health.

 

My DD has a Mosiac form of a genetic disorder. It's perplexing at times to see what she has and does. She is one that has more internal learning issues than outward physical signs - but she will still always have Turner's.

 

To the OP - i agree, she needs to have the genetic testing if she hasn't - but it's pretty cut and dry. It doesn't change.

[Stacia]

she will still always have Turner's.

 

Yes, I was going to mention Turner's Syndrome. I think some of the characteristics of Turner's can 'look' like Down's Syndrome. Turner's affects only females.

 

You can read some info here:

http://www.turnersyndrome.org/

[TraceyS/FL]

I agree on the looks. My DD has some physical features if you know what you are looking for - and they vary depending on her age. But overall you'd not know she had Turner's - enough that all of her doctors missed it and NEVER considered her to have it. Our genetic testing was a shock in that regard.

 

It's hard to grieve thru the process of a genetic problem. There is still some stuff that will set me off with DD, you want to wake up and have it gone, but well, maybe someday - but not now.

 

LOL, i'll say that right now typing in this thread helps ME - even though someone might wonder why i am sticking my stuff in it. But knowing that the parents will go thru a grieving process helps those around people too. It can take awhile to accept - in our case (mine) i knew "something" wasn't right with her for a long time. It just took 7 years to get it sorted out.

 

ANYWAY, the OP's friend hopefully will get the testing they need.

 

:grouphug:

[Stacia]

I agree on the looks. My DD has some physical features if you know what you are looking for - and they vary depending on her age. But overall you'd not know she had Turner's - enough that all of her doctors missed it and NEVER considered her to have it. Our genetic testing was a shock in that regard.

 

It's hard to grieve thru the process of a genetic problem. There is still some stuff that will set me off with DD, you want to wake up and have it gone, but well, maybe someday - but not now.

 

LOL, i'll say that right now typing in this thread helps ME - even though someone might wonder why i am sticking my stuff in it. But knowing that the parents will go thru a grieving process helps those around people too. It can take awhile to accept - in our case (mine) i knew "something" wasn't right with her for a long time. It just took 7 years to get it sorted out.

 

ANYWAY, the OP's friend hopefully will get the testing they need.

 

:grouphug:

 

:grouphug: to you too. I know it's hard. My (adult) cousin has Turner's. Her family never spoke of it, tried to ignore it, etc.... She's had a tough road & a hard life in many respects. She's had many of the health issues and learning disabilities associated with Turner's, plus exhibits quite a few of the physical features too.

 

Have you checked out the Turner's Syndrome site? The seemingly have a network of support groups. Perhaps that will be useful in the years to come?

[cricket1178]

Thanks for all the replies. I just had a conversation today with a lady that said her dd had twins. One of them is presenting normal and the other has characteristics of down's, but doesn't have down's.

 

My friend with the down's baby has decided not to have the testing based on these kinds of stories. She doesn't see any reason to put her baby through the testing. She is convinced her baby doesn't have down's but is just presenting traits of it.

 

I'll continue to research and appreciate the link to Turner's syndrome.

[MyBlueLobsters]

Thanks for all the replies. I just had a conversation today with a lady that said her dd had twins. One of them is presenting normal and the other has characteristics of down's, but doesn't have down's.

 

My friend with the down's baby has decided not to have the testing based on these kinds of stories. She doesn't see any reason to put her baby through the testing. She is convinced her baby doesn't have down's but is just presenting traits of it.

 

I'll continue to research and appreciate the link to Turner's syndrome.

 

 

A simple blood test can tell if her child has DS. If they *think* the baby might, they need to do the test to know for sure because there could be serious health issues. (ie: heart defect) My youngest has Down Syndrome, and it is not a disease you can grow out of. You either have it or you don't. Except for the case of Mosaic DS (where only part of the cells are affected), every cell in his body has this extra chromosome, that is not something that can go away as you get bigger. Some people with DS are higher functioning than others, but that doesn't mean they have it worse, it just affects them differently. I would encourage your friend to have her baby tested (again, just a simple blood test) because they need to know. Feel free to PM me if you have any other questions. I would be happy to help.

[tibbyl]

My friend has a dd that was born down's but has been talking to some people who say the baby may not be down's but maybe this other disease that just looks like down's. They say when the child grows up she'll be normal. Has anyone heard of this?

 

If a baby is "born Down's," it is *always* Downs because Downs is a genetic condition.

 

Are you referring to a disease that manifests itself with some of the characteristic appearance traits of Downs like the epicanthal folds and short stubby digits? Or a disease whose symptoms include the heart murmurs that are often found in Downs children?