ATRX-Syndrome - Mothering Forums

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Old 11-19-2010, 05:35 AM - Thread Starter
 
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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

Thanks

Irene

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Old 11-29-2010, 11:44 AM
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I moved this over to Special Needs Parenting to see if anyone here has any input. smile.gif


winner.jpg Adina knit.gifmama to B hearts.gif 4/06  and E baby.gif  8/13/12 (on her due date!) homebirth.jpg waterbirth.jpg

 

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Old 06-24-2011, 06:10 AM
 
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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

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Old 08-02-2012, 09:13 AM
 
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I have a 5 year old son that was just diagnosed last year with the ATRX syndrome

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Old 09-07-2012, 08:04 PM
 
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I have an 8yr old and a 3month old with atrx, I have never talked to anyone else that has to deal with this same syndrome! I would love to talk to some of you!
 

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Old 09-20-2012, 10:25 PM
 
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Hello families, i came across this site while researching my sons genetic abnormalities. I have two boys a healthy 16 year old And a almost 4 year old that was recently diagnosed with Oligopherenin otherwise known as (OPHN1) gene and a unknow variant of ATRX gene. I live in the USA and have been looking for support groups for families of same diagnoses. I was told by our genestist that this is a very rare gene and may not find anyone in the USA that has been diagnosed. I was told my son is the 21 confirmed case in the world with ophn1. I first realized something wasn't right when my son was an infant. Moms just know...He was cross eyed, his doctor said it would go away that newborns did that. As months went by he did not make any of his milestones. His eye remained crossed. At 3 months we were sent to ophthalmology and he got glasses. At nine months he still could not do anything no sitting up,rolling over,crawling. Nothing.. I kept saying something's not right. " boys are a little delayed is what I got" Finally at his 18 month check up his doctor agreed sent us to a nerologist and did a MRI of his brain. That's when the fun began! Every parents worst nightmare!. I got a call from the neurologist and primary care saying I'm so sorry. My heart was in my stomache, the MRI shows the cerebellum portion of his brain and the ventricles are enlarged. This part controlls your balance and the ventricles well that part is effecting his speech. We started genetic testing soon after the MRI findings. I was told we may never know anything. Within 3 months I got a call asking to come in ASAP.. Again that feeling! The diagnoses of ophn1 and atrx gene. And to find out there is no cure..I was beside myself and to find out the female is the carrier. I did this! Only thing I can do is early interventon Therapy. So that's my new life a stay home mom to a beautiful fun loving little boy that I take advantage of PT, OT and speech therapy. He can finally walk,and run. Says 2-4 word phrases. And is an absolute handfull. But I would not change him for te world...please please share with me what you go though if you have similar challenges ....
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Old 10-19-2012, 10:49 AM
 
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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.

 

Ana

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Old 10-30-2012, 05:13 PM
 
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Hi every1. My son is 11 and was diagnosis when I was pregnant with my 3rd child.
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
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Old 11-01-2012, 12:42 PM
 
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Hello my name is ashley and I am from the usa and I have a 16 month old that was diagionised with atrx at about 1 year old I don't have much experience with it but I am in the same situitation that you are in..how did your son act as a baby was he mobile or verbal my son currantly don't walk crawl sit upsit up or roll over
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Old 11-01-2012, 12:42 PM
 
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Hello my name is ashley and I am from the usa and I have a 16 month old that was diagionised with atrx at about 1 year old I don't have much experience with it but I am in the same situitation that you are in..how did your son act as a baby was he mobile or verbal my son currantly don't walk crawl sit upsit up or roll over
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Old 11-01-2012, 12:43 PM
 
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Hello my name is ashley and I am from the usa and I have a 16 month old that was diagionised with atrx at about 1 year old I don't have much experience with it but I am in the same situitation that you are in..how did your son act as a baby was he mobile or verbal my son currantly don't walk crawl sit upsit up or roll over
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Old 11-03-2012, 04:58 AM
 
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Hi Ashley
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.
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Old 11-03-2012, 05:05 AM
 
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Sorry Ashley he wasn't verbal at all and still can't talk he uses a book with pictures for school we don't use anything at home because we have worked out what he wants he can sign. He says mum and bus and my partners name Matt but that's about it. When he was about 2 he would have these outburst like biting hitting pulling hair ect. He still does all these things but I put it down to frastution. He is on a bit of medication which sometimes keeps his moods in place. But in saying this all kids different.. If there is anything else what u may find helpful just let me know... Take care
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Old 11-17-2012, 09:21 AM
 
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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  :)

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Old 12-10-2012, 09:17 PM
 
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Lysa, my son has oligopherenin gene ( ophn1) that is very rare, no known reported cases in new england or any childrens hospital in country per Boston children's hospital.. He has a unknow variant of ATRX. I'm finding lots of support groups for atrx " not so rare" but nothing on the ophn1 which is his main diagnoses. Further testing needs to be done on the ATRX diagnoses. Genestist could not explain to us the unknow variant of atrx. But thank you for the website I'll check it out. smile.gif

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.
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Old 02-06-2013, 12:50 PM
 
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Hello,

 

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]

 

Thank you,

Cassandra Karabaic

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Old 03-22-2013, 05:22 AM
 
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Hi all,

 

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:

 

http://www.atrxsyndroom.nl/nieuws/voorlichtingsfilm

 

If you have any comments about the movie, please feel free to contact us!

 

Kind regards,


Stijn Deckers

Board member of the Dutch ATR-x Syndrome Society

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Old 04-25-2013, 08:48 AM
 
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Hi I just had a genetics test done for my son who is 3 and a half years old. I have been reading a lot a out boys with atrx having difficulty walking, talking, etc.. My son has recently been diagnosed with it. His head is small for his age. But as a baby he crawled, walked and spoke on time. He's in school now and he knows his colors. He talks fine. He does have some behavior problems like with his anger. I don't know maybe atrx comes as an umbrella. Everyone who has it has it in a different way?
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Old 04-25-2013, 08:49 AM
 
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My son is the smallest in his class.
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Old 07-12-2013, 12:06 PM
 
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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?

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Old 10-08-2013, 02:15 PM
 
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Hello, I am writing into this forum because I wanted to let you all know that I am a scientist working to understand the molecular basis of the ATRX syndrome; you are not alone out there, we are studying your children's disease and we hope that in the future a better therapy might be available to alleviate the symptoms and make the disease milder, or maybe even get closer to a potential cure. We are far from it at the moment, but we are slowly understanding more and more about the disease through our research.
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
Palebluedot
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Old 11-05-2013, 01:20 PM
 
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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

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Old 04-26-2014, 04:46 PM
 
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Hi everyone! I am have 2 boys with atr-x syndrome. Ages 8 and 3. Anyway I just wanted to let all of you and future readers about the facebook support group! It's an amazing group. We are basically all a family who knows what others are going through. So when a question is asked many parents are able to give answers based on personal experience. Anyway here is the link. https://www.facebook.com/groups/163849465337/ it's a closed group but just ask to join and the mother running it will accept your request. Hope to see you all there!
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