My son is 16 years of age, but was diagnosed at the age of 7 with ATRX-Syndrome. I have been told it stands for Alpha Thallassaemia Mental Retardation on the X Chromone and that it is a very rare syndrome.
I was just wondering if there are any other parents out there that have heard or had any dealing with this.
I am in the UK
hello my name is Maire and i have a nearly 15 year old brother with A T R X .how bad does your son have it ,i am also a carrier of A T R X as well .i have 2 daughters and i am now 8 weeks pregnant with my 3rd child ,i am a week away from having my blood test to find out what sex my baby is .there is so many children with this condition ,i remember when my brother was only like 3 or 4 ,there was only 1 other child in the UK i knew of that had the same condition as my brother ,my brother has it quite mild but does have reflex problems and autism.The doctors found out her had A T R X when he had meningitis when he was 1 years old ,where abouts in the uk do you live ? we are from glucestershire .cant wait to here from you .all the best ,marie and family x
Julie, I was just informed last week my almost 3 yr old son has ATRX. I feel as if I'm sure any mother in a similar situation would feel, as if Ive been hit by a semi truck! It interest me so much to know your son is walking and able to talk a little. Can I ask you how long it took for him to walk and at what age he was when he first started. What thing they did in therapy to get him there? Please, let me know. My son is severly hearing impared and it makes communicating feel impossible. I just would love to hear someone give me tips and pionters on the things they've found to work for their sons. Thank you.
The doctors here couldn't really pin point his disability I was 19 when I had my son and he has been having test every since. Almost 2 yrs ago I was pregnant with my daughter and had test done to find out the sex she was a she so no further testing was done but my sons DNA was sent the uk where a dr Gibon confirmed it was atrx. And since the woman is meant to be carrier of the gene my was than sent but I didn't have the gene. I was told that is syndrome was very rare I'm in Australia New South Wales and my doctor only knows of one other child. He is a very happy boy. Whom I love so much it would be great to talk to other parents in the same situation. Dylan can't talk he says a few words but signs mostly he didn't walk till he was almost six he has a lot of. Behavior issues. So anyone who would have more info for what is to come would be greatly appreciated. Thank you
My son also didn't walk till he was about 5 almost 6. He never crawled at all he sat up by himself about 2 and a bit . He use to shuffle on his bum.. He was a pretty good baby very happy all the time and very loving . he got a lot of chest infection when he was younger.
Hope this helps.
Hello. I'm Lysa and I have a 12 year old son who was diagnosed with ATRX several years ago. My son is non-verbal, crawls and will pull himself to stand. Like other boys with ATRX he is a lovely, cheerful, happy little boy who gives us so much joy.
Julie - there are several families with an ATRX child in the US. If you haven't yet found us, we have a group over on Facebook (search ATRX) where we have 100+ members, many are parents, some are family members and a couple are health care providers. Dr Richard Gibbons at Oxford University has been looking at ATRX syndrome for many years and is very helpful - he has a website all about the syndrome http://www.mhu.mrc.ac.uk/ATRX/atrx.html
Hope this may be of some help and if I can help in any other way, just ask :)
Ana, he started walking at 2 1/2 with hands in the air. I guess his way of controlling his balance?? Not sure though! He trips and falls a lot but does very well Speech is improving, he tries so hard to get his point across by signing and gesture.
My name is Cassandra Karabaic and I am student at Wheelock College in Boston, MA. I am currently working on a research project that involves providing parents or guardians and families with more information on ATR-X Syndrome. This is a subject I am very passionate about, as my cousin was diagnosed with this syndrome a couple of years ago. I saw my aunt and uncle struggle so much in dealing with the effects that this syndrome had on my cousin, and on their family. This inspired me to want to do my senior honors research project on this topic. I want to be able to provide a parent perspective to the discussion of this syndrome. I have found that many articles contain medical jargon and mostly discuss the genetics of this syndrome. I would like to provide the point of view of the parents, and provide perspective on what it is like to parent a child with ATR-X Syndrome. With this being said, I would like to see if any parents or guardians who have a child with ATR-X Syndrome would like to participate in a short survey which asks about your experience in finding information about the syndrome. We would have all contact through email and it will only take up a small portion of your time. It would be so helpful to me and the community of parents who have a child with ATR-X Syndrome if some of you could help out! If you are interested please post back, or email me at [email protected].
Because ATR-x Syndrome is such a rare genetic disorder, a couple of parents in the Netherlands founded the Dutch ATR-x Syndrome Society. In the Netherlands, at the moment, only 13 cases of boys with ATR-x Syndrome are known. The society just released an introductory movie about the ATR-x Syndrome, which i'm very happy to share with you.
Please found the Dutch movie, with English subtitles on the following website:
If you have any comments about the movie, please feel free to contact us!
Board member of the Dutch ATR-x Syndrome Society
Hi, I've been fighting for answers for my son who's been delayed since about 9months old. Today I got the phone call from the geneticist saying that when they did the 90gene xlid panel they found this deformity-ATRX. I'm thankful for answers so that we can better guide my son. Any advice or information you guys can share?
We are always happy to give support to families affected by the syndrome and we often put families in touch with each other so that they can share their experiences and help each other.
Feel free to reply if you need to be kept in touch with our group.
Best Wishes to everyone
Hello, my wee friend of 23 months has just been diagnosed with ATRX, his Mum would appreciate all contacts with other Mums in the same situation.
He lives in Napier New Zealand, and in the next few days is going to Wellington Hospital,I think to get a feeding tube sorted.
Thankyou. On behalf of Bryson and his parents Stacey and Taylor