Message Board

The ECARUCA message board serves as a place where parents of children with rare chromosomal disorders can meet online. You can place a message on our Board by sending us an email. Please take note of the following: This message board is not intended to be a discussion-forum, so replies to messages will not be published on this page. Please send your reaction directly to the person(s) involved. This message board is not meant for commercial activities ECARUCA accepts no responsibility for the content of the messages (see disclaimer)

04 February 09	"small, de novo deletion in the q14.1q14.3 region of chromosome 11 [i.e. a del(11)(q14.1q14.3)]" - Sandra Budde
	I have a 2.5 year old grandson, Braydon, who has a "de novo" small deletion at chromosome 11q14.1-11q14.3. I am trying to find anyone else who might have a similar deletion to know what we might expect down the road for my grandson. We are currently at a loss. Thank you, Sandra Budde. e-mail sandy.budde@sbcglobal.net,

20 January 09	"chromosome translocation involving 9q and 16p" - Tricia Mueller
	We are a family from the U.S. with a 12.5 year old daughter with a chromosome translocation (9q;16p) interested in corresponding with families with the same translocation. Thank you, Tricia Mueller. e-mail mueller.tricia@gmail.com,

12 July 04

Compassionate friend

Friends of mine have a 10 year old daughter with a chromosomal disorder that I believe renders her autistic and MR. She requires 1 on 1 supervision at all times and they have agency support in the evenings and she is in school/camp during the day. I'm sure there is an abundance of information from all of you parents who live with children with similiar issues. I would like to help my friends tap into this resource. There is a specific question I would like to pose: Their daughter(J) seems to be moving into puberty at the age of 10. She has not yet started her period, but that appears imminent. Can any of you share some experiences or some advice on how to cope with the budding sexuality of a severly MR daughter??

15 April 04

"deletion 1q" - Gabi Laskowski

Our son David (8 years, deletion 1q = severe mental and physical redardation) started deliberate hyperventilating last year. It seems this behaviour shows up when David experiences too little (boredom) or too much (stress)tension. He seems to suffer in this state and so do we. His chest is blown up and he has heavy hiccups. There is no contact nor is he able to play. The only way to get him out of this behaviour is with physical activity that he can just master. Cuddling or putting physical pressure on him doesn't work out. In addition David recently started to hold his breath, mouth wide open, and to 'growl'. We would be glad to get clues to understand this behaviour better and advice on how to prevent it. (An earlier hypothesis that the hyperventilation was due to reflux didn't work out.)