A mystery child

Talina - posted on 10/27/2008 ( 21 moms have responded )

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Hi my name is Talina i have 3 sons, my middle son Ashton is a complete mystery to the doctors here in North Wales Uk! So frustrating to have no diagnosis! He was late with all of his milestones, had reflux as a child, would throw his head back and he now hand flaps, he has nystagmus (eye jerk) he is a sweet loving boy but you know he has echolalia and repeats things often, i find this very hard because he just wont stop talking! He loves music and making a noise, playing his gameboy lol.. He is getting better but i would love to know what is wrong with him... he has autistic tendencies as in he doesnt like eye contact and is very sensitive to bright light, he has some issues regarding he loves to play with water and light switches! :( ugh!! Anyone else have a boy like this??? thanks x

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Jennifer - posted on 11/14/2009

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MY DAUGHTER IS LEGALLY BLIND AND DOES THE EXACT THINGS YOUR SON DOES IE HAND FLAPPIN SHE DOES THAT CONSTANTLY SHE ALSO IS A HUGE MUSIC LOVER!!! HER DIAGNOSIS IS SEPTO OPTIC DYSPLASIA BUT THET INCLUDES HER PIT GLAD THAT DOESNT WORK

Cjay - posted on 10/17/2009

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My neighbour has a girl that sounds just like your son, they had just diagnosed her as having global delay. I'm not sure if this helps you or not.

Jackie - posted on 10/13/2009

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my daughter sounds similar and has "williams syndrome" results from the genetic testing called the F.I.S.H test confirmed it . It is a rare syndrome and found it very hard to get anyone to really listen to me. Keep your chin up and good luck..

Sherry - posted on 09/29/2009

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My son too is a mystery! He was late also with all his milestones. Has speech delays and articulation problems, hand flapps, repeats everything, doesn't know how to have a conversation with multiple people (more than 1) sits and talks while you are talking to someone else (just so that he feels he is a part of the conversation) I have been to many hospitals and had many tests run and finally after 15 years of no diagnoses I found all of his criteria online. It is a form of autisum. It is PDD-NOS. Every thing was him. I printed it off and took it to his doctor and he was amazed! You can research all the realms of Austim online it will blow your mind at the different spectrums of Autism!

Joey - posted on 09/29/2009

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My son has a disorder called Dyspraxia, it's very similar to Autism. I believe the term is relatively new here in the states, but quite popular in the U.K so don't be surprised if most of the web sits are from there. It's worth a shot and you may even want to bring it up with your developmental doctor. Good luck.

[deleted account]

Glad to help Toni...the symptoms you describe, are a mirror to my girl at that age, and even now...it gets easier, but not better, you adapt and pick your battles, you are a GOOD mom...the fact that you don't just quit says it all, my daughter still only eats a select few things if at all, and dressing is still a fight, she blames the clothing!! Her hearing has always been an issue, she was diagnosed as deaf after 4 months, but then it changed and they insisted on cochlear implants, I refused! She has partiol hearing and it seems to come and go, I just get mad when people say she is stubborn or has "selective hearing" especially when at times a smoke detector goes off and she doesn't hear it, but other times she can hear whispers, its frustrating, but know that someone out here understands and will always lend an ear if I can't help, I can listen, sometimes just venting helps, you can add me to your friends list if you like....one mom who thought she was doing it all wrong to another...surprise if there are more than one, we know its something! Good luck with the test, and if thats not it, I will gladly help you research his symptoms until we find it...we fight for our kids, sometimes it takes awhile to find a doctor willing to give their all...someone is out there..have faith in your heart..

Toni - posted on 01/22/2009

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Theri you input has been very helpful I have spent the last 4 years thinking that it was my parenting skills. My Son has severe refux as a baby. He now will only eat a certain range of foods. He will not try a new food even with encouragement. He has an enlarged head rather than an enlarged forehead it has always measured up to 8cm bigger than normal. We have not been able to toilet train him as he suffers from 'runny' bowel movements and isn't aware when his been.

He has limited hearing in one ear and his speech as only just started to develop yet he often speaks so fast we cannot understand him. His recently started complaining of pain in his jaw but I have no idea if this is related. He will not share toys and is a well known biter at Nursery. His poor co ordination skills we have always put down to him having club feet. He just can't seem to get his arms and legs in clothing.

His sleep has always been an issue and Health Visitors have just told me to ignore him and he'll grow out of it.

His awaiting a test and I believe they are going to test me at the same time.

[deleted account]

my daughter does has epilesy as well, and an abnormal brainstem, as well I have optical atraphy, and nerve disorders...it's scary, but good to know someone else understands, even if the dignosis is different its nice to be able to help each other cope

[deleted account]

Fragile X has tons of symptoms, often confused with autism. Kids usually have large foreheads at birth, but we don't notice. Digestive issues, reflux, problems eating, Sensory integrative disorders, reacting improperly to situations, irrational acts for no reason, banging, flapping, screaming, isolation for no reason, avoidance of evryone, or certain THINGS, behaving differently to the same situation for no reason, temper issues, uncontrollable emotions that seem inappropriate, lack of eye contact, or opposite, smothering of others, even pets, unnatural fascination with things or objects, like coveting a rock, cuddling it, sleeping with it, then alternating the object, like switching to a seashell, or whatever, unable to rationalize, or understand cause and effect at times, general delays often mistaken as MR...clumsiness, ADHD, the list goes on, try looking it up on yahoo, I found it helpful, I hope this helps you a little, Theri

Toni - posted on 01/22/2009

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I have been doing a great deal of reading on fragile x and am also going to get tested myself I have CP and Epilepsy but my sensory problems and mathmatical problems have always been put down to CP its quite scary as when I looked further into fragile X it was like reading about me and my Son. A good website I have found is http://www.nichd.nih.gov/publications/pu...

Talina - posted on 01/22/2009

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so what are the common symptoms of fragile x syndrome then????? Thanks Talina.

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Hang in there Toni...my daughter is almost 9, still gets up at 5am, never sleeps more than 3 hours at night, and hardly eats, Fragile X can even be carried by you, so get tested yourself, I found out I was a carrier, but it is extremely rare for a female to be symptomatic, lucky our neurologist believes in one in a million chances and tested her, it explained alot! Just remember each day is more of a struggle for them than it is for us, a wise mom told me that! Theri

Toni - posted on 01/22/2009

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Hiya I have a 4 year old Son. He has a speech delay, social interaction issues. He has problems with his bowels as he not aware of when he needs the toilet. He was born with a large head and is very hyperactive and often gets so fustrated he gets violent. He will not sleep through the night and will wake screaming. He wakes at 5am every morning. He can't get himself dressed and struggles with a knife and fork. He is currently being tested for fragile X. This is a complete shock to me as I have found that this would have been passed down from my Father who I don't have contact with. I would agree that testing may be a way forward even if it crosses another condition off the list

Alyn - posted on 11/28/2008

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HI, I agree with Angela's reply. My son has SPD and sounds similar to yours. The books The out of Sync Child and the Out of Sync Child has Fun are great. I might also look into Fragile X as well, that may be it if not the SPD. I understand the frustration...my doctors burshed me off because they didn't understand. I figured it out on my own and then found the right doctor to give the diagnosis. So frustrating! Good Luck!

[deleted account]

Actually, your little guy sounds alot like my daughter! Cydney is now 8 and has been through tests and doctors like water. She has been given a ridiculous number of different diagnosis, but everyone says it all comes back to a rare genetic disorder, Fragile X Syndrome. It mimics autism, with a variety of other things, like her epilepsy, and PDD...crazy though doctors are stumped because GIRLS are never symptomatic, to my surprise this one is, and she NEVER quits talking either, I know how frustrating that is, she doesn't eat or need sleep either. Ask for the test, it's a simple vial of blood, and you will know in a few weeks, it doesn't make it better, but that answer is at least a comfort that YOU are not crazy...

Angela - posted on 11/25/2008

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Hey Talina,

My name is Angela and I have a four (almost five year old son) who has had some similar symptoms of your son. Elijah had delayed language, but his diction was phenomenal for a little kid. He could say elephant, hippopotomas, etc. with no problem, but he could not say "I want a drink." We took him to a pediatric psychologist who thought that he might have Aspergers. However, despite his behavior (that was on the Autistic spectrum) he did not show many of the classic signs. He cared if I tripped and got hurt. He looked me straight in the eye when I spoke to him. He pointed at things he wanted even if he didn't say what they were. So, we took him to a pediatric psychologist who evaluated him. She thought that he probably had "Sensory Integration Disorder" also called "Sensory Processing Disorder." It is a disorder that can take many forms. I do not know if that is what your son has, but it's worth a look. There is a book called "The Out-of-Sync Child" by Carol Stock Kranowitz, M.A. that explains the many different facets of the disorder and gives some at home evaluation tools. I hope this helps or at least gets you started on the road to some answers. Elijah has been receiving Occupational Therapy, Physical Therapy, and Speech/Language Therapy. He has made tremendous progress in the past two years, and we no longer have great fear for his future. We believe that he will grow up to be a strong and fully capable man. God bless you.

Kayla - posted on 11/16/2008

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hello im kala and my son was diagnosed with septo optic displasia which is where the wall running down the middle of your brain is thined out or not there he has some problems already but from what i have researeced your son seems to have may symptoms of this disorder and the way to tell is to get an mri done on the brain and have them measure the wall to see

Roxanne - posted on 10/28/2008

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Hi Talina-Do you know the cause of his nystagmus? Both of my children have albinism(albinos) They do have some pigment. My son has nystagmus and photophobia(very light sensitive). Optic Nerve Dysplasia, Optic Nerve Hypoplasia, and Septic Nerve Dyslpasia-can cause some of these symptoms. Some children with albinism are on the spectrum. My son had sensory issues when he was younger both of my kids have reflux. With albinism the optic nerves are misrouted. With my daughters nystagmus there is not a lot of eye contact. Have you been on the nystagmus network in the yahoo groups? One child I met online and in a specialist office did not talk and after his nystagmus surgery he started speaking at 4 years old(I believe) My daughter loves playing with water just the sound of it relaxes my son. My son was finally diagnosed at 5 and my daughter at 2.5 years old so I understand your frustration. This has been our experience, I hope you find the answer for your son soon

User - posted on 10/28/2008

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Hello, Talina. I know just how frustrating it is to not have a diagnosis. It seems many people avoid a "label" and I feel like I have been begging for one for so long! My son is 8 yrs old and also has many autistic like tendencies. He jumps up and down and hand flaps when bored, overstimulated... for many reasons. He had the typical loss of language at 15 months of age, sensory integration disorder, echolalia, etc but seeks out interaction with others, albeit inappropriate most of the time. 2 doctors had already ruled out autism and I just couldnt seem to agree because of all the tendencies. We just received the results of our most recent eval and again the doctor said NO autism but gave him the MR (mental retardation) diagnosis. That is very hard to hear. The newest term is actually "intellectually deficient" - not sure which I like less. However, it helps get Nicholas the services he needs so I guess just GETTING the diagnosis feels good. So, I guess I answered your post not because I boys sound exactly alike but more because I can relate to your need for a Dx. Good luck to you and your boy. Anne

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