Proximal 18q deletion syndrome/Ring 18p deletion syndrome

[sequeena]

Does anyone here or their child have either of these? Or know someone who does? I've been researching different syndromes for months and believe I've finally found what Thomas may have. I'm not a doctor of course and don't have the necessary equipment to diagnose but everything fits. I'm sure it's one of these 2 syndromes. If I had to say which one I'd say ring 18p. We are meeting the geneticist on the 28th so I just want to be prepared. What are your experiences?

 

[sequeena]

Also if anyone is interested in what made me research this syndrome it is the fact my son has bilateral shoulder dimples. It's quite rare apparently. Funny how one little thing can spiral into other things. It's fascinating.

 

[minties]

I do know someone with a chromosomal disorder of the 18th chromosome. I am not sure specifically which disorder she has. I don't know about dimples, but she is short with a small head and lower jaw, plus has some other physical features that set her apart. I think she had a club foot as a toddler.

She's about 28 and just moved out of home and works part time. Her mental age is about that of a four year old, but her mother threw her against a wall as an infant so she is also brain damaged.

 

[sequeena]

Thanks minties. That's so sad

Thomas has several characteristics of the syndrome including developmental and intellectual disabilities, deformity of the hand, hernia, bilateral shoulder dimples, hypotonia, dysmorphic features (deep set eyes low set ears small chin and mid facial hypoplasia), possible seizures and so much more.

I know it will take a while for us to get a diagnosis that is if we ever do have one. I just need to know.

 

[Linny]

Have you tried a search on Facebook sequeena? My daughter has Trisomy 9 mosaic which is an extra chromosome 9 in some of her cells. I am part of a group that is specifically for other parents with this same condition as it's very rare. There is also a Trisomy 9 family group I'm part of that covers all conditions relating to 9th chromosome so deletions, partials, mosaic etc. I'm just wondering if there might be something similar for the 18th?? Just a thought!

 

[Linny]

I just did a quick FB search and found a couple of 18q deletion pages - not sure how active they are and one looked like you would have to request to join.

 

[minties]

Do you know how long it takes to get the results once you see the geneticist? Hopefully it isn't months and months.

 

[sequeena]

Thanks linny. I requested to join a ggroup I hope it's still active.

I really don't know how long it will take some people have waited months even a year

 

[Linny]

It's definitely a great idea to go to genetics with some ideas. My friend did a lot of research on her son before her appointment and the geneticist pretty much confirmed what she had assumed his condition was. That was purely on physical features and characteristics

 

[sequeena]

Thank you x I don't want to come across as a know it all but I don't want to be ignorant either. Not long to go now it's nerve wracking.

 

[Linny]

I was nervous and we'd had the diagnosis!! Mine was really lovely and seemed to know quite a lot despite never seeing a case of T9M before.

I hope you find some answers, I honestly think not knowing and trying to work it out yourself is so difficult - and I only had 5 weeks of it! Best of luck x x

 

[sequeena]

Thank you if Thomas does have a syndrome they can only treat the symptoms so really a diagnosis should make no difference but I know it will. We will know for a start, it may help us get us more therapy and we'll be able to decide if we will ever expand our family.

I don't want him to have any syndrome but I feel like it's needed.

It's been 2 years now since my health visitor first noticed his delays and it's what I wake up thinking about every day. It's driving me mad.

 

[Linny]

I think in some ways it's a closure of some kind. Your not struggling in a sea of total uncertainty. I think it's almost a relief to have an explanation as to xyz, even though nothing actually changes x x

 

[kosh]

I work closely with clinical geneticists and NHS diagnostic labs. If you manage to get the doctor to request the analysis (which shouldn't be a problem I believe), the test itself shouldn't take long at all, maybe a month, at least that's where I work.

If you want to PM all teh symptoms and a couple of pictures of your son I can try to get someone to have a look at the case, if that's any help?

 

[sequeena]

Wow kosh that would be lovely thank you