Partington Syndrome and Blog of the Week: Dream Mom
This week’s Genetics and Health featured blog is Dream Mom written by a single mom of a teenager with Partington Syndrome. In today’s post, she explains all about “Dear Son”:
Dear Son has Partington’s Syndrome, which is characterized by seizures, dystonia (movement disorder) and mental retardation (Dear Son is severely retarded.) While Partington’s Syndrome is not rare, his was caused by a mutation of the Aristaless gene or “ARX” gene for short. There are three patterns of the gene and Dear Son was the first person in the world to be identified with the first protein pattern, which is one of the three patterns of the gene. People with ARX are also born without any GABA. After his testing was completed, a Dear Son mouse was created to learn more about this gene pattern. The ARX gene expresses itself in vitro and while it is considered a “mild” gene defect as genes go, it can cause some of the most “severe” disabilities. This gene discovery was considered a major gene discovery and initially was thought to rival Fragile X Syndrome. Dear Son was tested for a mutation of the ARX gene because he had infantile spasms of unknown etiology, myoclonic seizures, mental retardation and dystonia, so they thought he might have ARX. Since this gene is X-linked, I was tested, but I did not have the gene; hence Dear Son’s ARX mutation occurred at random.
Dream Mom writes poignantly about her son, their journey to find out the cause of his illness, and their daily life together. Most of us will never know firsthand what it’s like to care for a special needs child who requires constant, vigilant care, but reading blogs like Dream Mom will make us more sympathetic and better human beings.
Technorati Tags: partington, partington syndrome, aristaless gene, arx gene, genes, genetics, disease, health, mental retardation, dna
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.
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
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, 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 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.
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
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 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.