my son has this
We have two children who have recently been diagnosed with Aarskog. We are interested in learning from the knowledge and experiences of others, as well as sharing our own.
Hello everyone!
I am a mother of five children; two daughters, ages 9 and 7, and three boys, ages 5, 2 1/2, and 10 months. My daughters are not affected at all, but my sons really are, especially my oldest.
I found out when my fourth baby boy was born that my sons had a genetic syndrome, because he had ptsosis, an umbilical hernia, widow’s peak, etc., and the doctor picked up on it. I didn’t get an official name for ths syndrome until my last baby was born, and we had a different pediatrician. Apparently, I have Aarskog syndrome. I don’t show it severely, although my dad, and my little sister do. My five-year-old son has had surgery on his feet, and his eyes. My boys all look so much alike.
I am still kind of shocked to find this out by a doctor, because I found out from my mother that my dad’s sister knew about it for years, but it was just kind of kept a secret, and my dad’s family just doesn’t talk to each other. My sons are all very bright, so they haven’t been affected mentally. I do have a cousin that has mental retardation. My one son looks like he could be a twin to his cousin, my sister’s daughter. It’s fascinating to me.
Anyone have ideas, advice, or anything? I am not embarassed or bothered by this. This is who I am, and who my kids are, and I get told all the time how cute and how bright my children are. I am just glad to know more!
Thanks!
Hi im Gemma and im 27 and i have twins who are 7 who both have Aarskog.I was told that girls dont have it they just carry it and pass it on to their sons at birth.So they are watching my Daughter to for when she has kids of her own.
Just really looking for advice from people who have lived with this really.As ive heard there are only about a 100 in the world who have this how true is this??
Any advise would be great.
Thanks xxx
Hi everyone, my name is melissa, i have an 9 year old son with aarskogs, we live in N.S.W. in Australia, and are new to this webpage.
I would love to hear about how A.S. is affecting other children and family’s. We are having a bit of a struggle at the moment with school. And he thinks he is just a small adult and not a child. He drives me crazy with his constant mothering of all other children… I am really starting notice his height difference with his buddies and cousin’s, his 4 year old cousin is only 2 or 3 inches shorter than him. I seem to spend half my time at the doctors with some sort of injury, he just doesn’t slow down or understand that the things he wants to do are dangerous… all he knows is that it is fun, and if you get a bit of pain from it, it was surely worth it…
my email is ddraco_7@hotmail.com
Hi all from Australia. I often feel so lonely as this is such a rare genetic disorder, it is nice to see I can chat to others who are going through the same thing. My son is 9 and was diagnosed 3 years ago. He is on growth hormone which is helping him, he is also vitamin D deficient and that diagnosis only came in last week and he has started treatment for that. My son struggles at school, mentally he is fine but he lacks social skills and suffers terribly with poor muscle tone and gross and fine motor skills.
Hi all… Melissa here again…
mummyto2, How are things going with your son? I am stoked that i have found someone else in Australia living with A.S. I would love to be able to catch up with you and find out what support you might of found and what help your son gets, as we are finding it hard to find people and Doctors that have dealt with this first hand… it would be great to be able to chat with you… It sound like my son is dealing with a few of the same things as your son.
cheers mel.
hi everyone, i am raising my nephew, he has alot of the signs of aarskog and the dr. did a microarray chromosomes but all she would tell me is that she had never seen any come back like his did and she wants us to see a genetists. How do we get the right diagnosis for the little guy? he is 6yrs old and is only 40" tall and weighs 42lbs. all the other kids his age seem so big. he is having a lot of problems in school, he has the palmers crease, long eyelashes, sunken chest and the picture on the internet if any of you seen it looks identical to him. he has so many more things that are listed. including scoliosis.can anyone lead us in the right direction and what does the future hold for him if he has as. I am just really lost.
thank you
My younger son, Ethan has Aarskog. He was diagnosed at 4months old. We have already had to go to eye specialist for things and to specail hearing appts since Ethan did not pass the hearing test they give babies before they leave the hospital. Also Ethan had surgery at the age of only 6months! He had two hernias so they had to fix those and pull down an undesended testicle.
Ethan is always getting compliments on how strong,cute and smart he is. As far as we can tell he does not have any really negative affects from Aarskog. He is just a little on the shorter side and he has a crazy widows peak. Lots of people do not even think he is “abnormal” looking…
well if any body wants to talk just message me. we can exchange stories… Oh and Ethan is now 18months old.
Hello
I’m a Brit, but I live in the US. We haven’t yet got a firm diagnosis, but the genetics docs believe that my middle son has aarskogs, and currently waiting on results about my other two children. my middle one is failure to thrive, food allergies, heart murmur, sensory issues - and has other tell tale aarskog symptons such as the wide set eyes, high forehead. - however, when they tested him and then myself they discovered that we have a signicant variance on the same gene that causes aarskogs - but not a recognised variant. This explains why they cannot yet exactly diagnose aarskogs - but they are fairly sure it is. - Appreciate any advice on all of this. my middle son is 3.5yrs old.
thanks
Nicky
hi I have a 2 and 1/2 month old son who was diagnosed with aarskogg syndrome about 3 weeks ago. I have an appointment with the genetic physician in a couple of weeks where I hope we will find out more about what this means however i was hoping to learn from other people that have experienced the symptoms and are living with the syndrome. Any info would be greatly appreciated.
hello i am a single mom of 3 aarskog syndrom teens 17 yr old daughter 15 yr old son 14 yr old son as well as myself along with fragile x syndrom. im hopin to find friends information and a place where i dont feel alone and mayb be a source of friendship to someone else
marcia mae
Hello, I live in Australia, i only found out 2 months ago that i am a carrier of Aarskog Syndrome, i also have some symptoms, loose joints and congenital heart defect. I have 2 boys, 15 and 13, the younger has facial characteristics of AAS without the actual dysplasia, he has the slanted eyes and long eyelashes, long face, delayed growth, my elder son has learning difficulties and the sunken chest, he also had problems with teeth erupting late, requiring orthodontic treatment. It is my daughter however who is 15 who has the more uncomfortable symptoms. She is petite in stature while not abnormally short, she has a heart murmur and spinal problems that can be very painful. She has loose joints, particularly the knees. Her feet point outwards as she walks instead of forward.
I am told we have a mutation in the AAS gene we carry. I am one of 7 children and have a large extended family. I know that infertility is supposed to be a side effect of AAS. Not in our family…i have a very large extended family. AAS comes down on both of my paternal grandparents side. Schizophrenia and Bi Polar as well as mood disorders are very common. Schizophrenia seems to only manifest in the event of alcohol or drug abuse. Antidepressant medication helps alot in this case, especially those designed as mood stabilizers. Unfortunately the exhaustive and alienating effects of the mood disorder generally sees the uneducated and uninformed turning to drugs or alcohol to help them cope.
I have 3 elder brothers, the eldest passed away suddenly in his sleep aged 43, completely unexpectedly. The youungest has battled schizophrenia for years but is stable and seems to cope better as he ages. The middle one had all of the physical characteristics, including learning difficulties and attention deficit. However he would be considered of slightly lower IQ than normal where as the other two are very intelligent. One of my sisters has all of the physical characteristics, plus a mood disorder and depression, i have suffered depression and mood swings all of my post pubescent life as has my elder sister. All girls have back, neck and joint problems and varying degrees of scoliosis.
On a positive note AAS children are generally beautiful, lovely hair, all of my family are creative, either in painting, drawing or musical. My elder son needed to be taught some social skills, such as maintaining eye contact and conversational skills, however all of my children fit in well and are happy in their peer relationships.
We have always felt as though there was a reason for many of the inexplicable symptoms that have plagued us through out life, but GPs are oblivious either to the syndrome itself or the variety of symptoms. What i am having difficulty with at the moment is finding a doctor who will see past the text book diagnosis that says girls are carriers only, which means that they should have no physical symptoms. Not the case at all!
I would be very pleased to communicate with anyone, anywhere who wants to discuss this, or who might just like a like minded person to chat with.
Tess
tess66 i would love to talk to you about this if you would like to email me=
at jonescrazymom@yahoo.com or you can find me on face book pamela jones ho=
pe to here from you.
— On Thu, 10/22/09, tess66 aarskog-fft-2196@lists.fireflyhealth.org wro=
te:
From: tess66 aarskog-fft-2196@lists.fireflyhealth.org
Subject: Re: [aarskog] Aarskog Syndrome Member Introductions
To: jonescrazymom@yahoo.com
Date: Thursday, October 22, 2009, 9:21 AM
I live in the northeast and suffer from seasonal depression. I basically hibernate from november until april. Besides moving, I’d really like to talk to people about how they’ve conquered their depression. I’m a really cynical person and depression has got me beat 
Hello i have just turnt 18, my 4 year old brother has aarskog as well as 4 of my cousins, my grandad and his brother, My mum is a carrier, and I want to get tested to find out whether I am, my mother only knows as my brother has been diagnosed with it. However I live in England and the majority of doctors didn't even know what aarskog was when spoken to about it. Does anybody kmow how I would be tested? would it mean having to take blood from my little brother again or could they just test my blood. Thank you