Comments on: Partington Syndrome and Blog of the Week: Dream Mom http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/ Family, Health, Home and Lifestyles Sat, 05 Dec 2009 03:03:36 -0500 http://wordpress.org/?v=2.8.4 hourly 1 By: Sue http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-570523 Sue Fri, 29 May 2009 13:33:10 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-570523 Hi everyone, I have 2 sons and 2 brothers with ARX. I also have a carrier daughter who recently terminated her pregnancy of a baby boy with ARX. She is looking at undergoing IVF to be able to select a female embryo that doesn't carry ARX. I want to know if there any families who have gone through IVF for this reason. We live in Australia and I would love to hear from anyone who can give us information. I love my boys and whilst life has been challenging, they have bought me great joy. My eldest brother and eldest son both suffer from epilepsy, and have higher support needs than the other boys. We only found out in 2001 that the boys had ARX. Previously we thought it was Fragile X, although we didn't show the marker. Please contact me at sj.bell@optusnet.com.au Thank you. Hi everyone,

I have 2 sons and 2 brothers with ARX. I also have a carrier daughter who recently terminated her pregnancy of a baby boy with ARX. She is looking at undergoing IVF to be able to select a female embryo that doesn’t carry ARX.

I want to know if there any families who have gone through IVF for this reason. We live in Australia and I would love to hear from anyone who can give us information.

I love my boys and whilst life has been challenging, they have bought me great joy. My eldest brother and eldest son both suffer from epilepsy, and have higher support needs than the other boys.

We only found out in 2001 that the boys had ARX. Previously we thought it was Fragile X, although we didn’t show the marker.

Please contact me at sj.bell@optusnet.com.au Thank you.

]]> By: Lindsay http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-570312 Lindsay Mon, 20 Apr 2009 19:25:10 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-570312 Hi everyone, I have a son that is three and he was diagnosed with ARX a year ago. He does not walk or have and speech and my doctor has told me that he is the seventh child diagnosed with his particular variation of ARX. He has seizures that are pretty terrible and he is also diagnosed with cone-rod dystrophy which has left him mostly blind. I would love to talk to some of you more about what you are doing for your sons as far as therapy and doctor. Please email me at LCLifton5@hotmail.com. Thanks! Hi everyone,

I have a son that is three and he was diagnosed with ARX a year ago. He does not walk or have and speech and my doctor has told me that he is the seventh child diagnosed with his particular variation of ARX. He has seizures that are pretty terrible and he is also diagnosed with cone-rod dystrophy which has left him mostly blind. I would love to talk to some of you more about what you are doing for your sons as far as therapy and doctor. Please email me at LCLifton5@hotmail.com. Thanks!

]]> By: Kevin Doyle http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-570197 Kevin Doyle Wed, 14 Jan 2009 22:02:57 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-570197 I too am searching for answer's. I have been reading all the above comments and i can relate to all your problem's I have Five sons And Four of them have been diagnosed with ARX syndrome, Their disability's vary from moderate to severe. Our specialist informed us that my wife is the carrier of a faulty gene which only effects boys i could write a lot more but i would be here all day, So if anyone out there wants to respond to my E-Mail feel free. Thank You, Kevin I too am searching for answer’s. I have been reading all the above comments and i can relate to all your problem’s
I have Five sons And Four of them have been diagnosed with ARX syndrome, Their disability’s vary from moderate to severe. Our specialist informed us that my wife is the carrier of a faulty gene which only effects boys i could write a lot more but i would be here all day, So if anyone out there wants to respond to my E-Mail feel free.
Thank You, Kevin

]]> By: Sonia Abavlos http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-570132 Sonia Abavlos Fri, 19 Dec 2008 20:41:48 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-570132 Hi Amy, my son also has ARX syndrome. My son does have some behavior problems and had a very long time by the time he had started walking. I also have been trying to find someone that is in the same situation. Hi Amy, my son also has ARX syndrome. My son does have some behavior problems and had a very long time by the time he had started walking. I also have been trying to find someone that is in the same situation.

]]> By: amy mutz http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-569870 amy mutz Sat, 25 Oct 2008 01:50:36 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-569870 Hi, I am also a mom with a 12 year old son that suffers greatly withA.R.X.syndrome. My son has many seizures and severe neurologic impairment,no speech does not walk he depends on us for everything.Would like to talk to someone in the same situation. Hi, I am also a mom with a 12 year old son that suffers greatly withA.R.X.syndrome. My son has many seizures and severe neurologic impairment,no speech does not walk he depends on us for everything.Would like to talk to someone in the same situation.

]]> By: Sonia Abavlos http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-569646 Sonia Abavlos Tue, 05 Aug 2008 03:14:40 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-569646 Hi Sarah, I'm sorry for your loss. My daughter and I are carriers for this gene. My son's neuro phys had told me that there are several levels of this gene. My son has the least severe form of this syndrome and he is 6 right now. I googled a lot of info because I have never heard of this syndrome. Email me at saza22004@hotmail.com Hi Sarah, I’m sorry for your loss. My daughter and I are carriers for this gene. My son’s neuro phys had told me that there are several levels of this gene. My son has the least severe form of this syndrome and he is 6 right now. I googled a lot of info because I have never heard of this syndrome. Email me at saza22004@hotmail.com

]]> By: sarah brooks http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-569442 sarah brooks Thu, 01 May 2008 08:32:35 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-569442 Hello i am a mom thats wants more info on arx sydrome i am a carryer of the gene and i have had 3 kids that are boys one died at 7 and the other one is ok and my 6 year old is got it too and i just wish i know how it happend or info or someone that been in my place i worry every day of losing my son that i just need to know more about arx plz Hello i am a mom thats wants more info on arx sydrome i am a carryer of the gene and i have had 3 kids that are boys one died at 7 and the other one is ok and my 6 year old is got it too and i just wish i know how it happend or info or someone that been in my place i worry every day of losing my son that i just need to know more about arx plz

]]> By: Sonia Abavlos http://www.blisstree.com/articles/partington-syndrome-and-blog-of-the-week-dream-mom/comment-page-1/#comment-568765 Sonia Abavlos Mon, 22 Oct 2007 23:04:23 +0000 http://www.geneticsandhealth.com/2006/04/23/partington-syndrome-and-blog-of-the-week-dream-mom/#comment-568765 HI, I would just like to say that my son was dx with ARX syndrome last year. I have not been able to find any one familiar with this dx. I know my son doesn't have the seizures or severe retardation. He does has the muscle spasms and has mild mental retardation. I just wanted to share with someone else. I just didn't want to feel like I was going through this alone. HI, I would just like to say that my son was dx with ARX syndrome last year. I have not been able to find any one familiar with this dx. I know my son doesn’t have the seizures or severe retardation. He does has the muscle spasms and has mild mental retardation. I just wanted to share with someone else. I just didn’t want to feel like I was going through this alone.

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