Hi. Just found this section.

[Ninagrrl]

Hi. I just came over from the pregnancy board (13+ weeks), and since I was bored I decided to explore and found this board. I have a 3 and a half year old special needs child.

Here is the back story. I am pretty sure that I have PCOS and at the time my doctor told me that it is just a "fertility problem". I had no insurance and couldn't pay for treatment of my own so I decided to take getting pregnant into my own hands. I ordered synthetic progesterone, metformin, and clomid from a company over seas and set up to start taking the metformin, progesterone, prenatal vitamins and baby asprin. I had already been temping and using OPKs for about 6 months and knew that I had a normal estrous cycle (O on cd12-13) and then a 6 -10 day luteal phase. I knew that I would have trouble conceiving because out of 7 cycles in a 6 month period, only one month had a 10 day luteal phase, the rest were 6 - 8 days. I planned on lengthening my cycle to 14 day luteal phase for a couple cycles before using the clomid. Needless to say, I got really lucky and conceived on that first cycle. Apparently, my only conception problem is most likely due to a low progesterone production.

As far as my pregnancy goes, I had very little symptoms. Sure, I had round ligament pains and stuff from my stomach growing but no nausea, my boobs were only sore the first week after BFP. I had heartburn but that was pretty much it and I'm pretty sure it was because my son was a big baby. I developed gestational diabetes (big surprise there...not) and was considered high risk. My son kept measuring big so I had ultrasounds done every 4 weeks from 20 weeks on and then every week at 35 weeks on. Another odd thing was that my baby didn't move much. I felt movement only 3 or 4 times the whole pregnancy and would have gone crazy if it weren't for him having the hiccups several times a day every day for most of the pregnancy. This should have been my first indication that this just wasn't normal but it was my first pregnancy so what could I expect. My son was breech and they estimated him to be anywhere between 11 and 12 lbs!!! They scheduled a c-section for December 4th, 2009 (4 days before due date).

On December 2nd, 2009 my water broke and there was meconium in the amniotic fluid. An emergency c-section was done. At 10:45pm my baby was born 9 lbs 6 oz and 21 and a half inches long!

The first issue we came across was that my baby couldn't latch on. In fact, he never did latch on and I pumped for 6 weeks before I dried up. I noticed 2 physical traits right away but didn't think anything of it. My son had a "freckle" under his pupil that looked like a second tiny pupil. Secondly, my son had what I know now as a dorsal dimple (a small indent just above his anus). He also only looked in one direction for 3 weeks no matter how I placed him.

Already this is so long so I will give the bullet points of milestones. My son was unable to do tummy time until 5 months of age because he couldn't pick his head up. He didn't roll over until 6 months and since he couldn't crawl, he rolled everywhere he wanted to go. By nearly 9 months old he was able to sit up, by 13 months he was crawling. Started pulling himself up by 18 months, walking holding onto things at 2 years, fully walking at 3 years and now at 3 and a half is just now starting to use words in a useful and conversational manner.

My son used to talk with his mouth closed until 2 months ago. It was really odd because if you paid attention you could tell he was pronouncing things. My son has been diagnosed with Hypotonia and skeletal dysmorphia with a severe developmental delay. His cognitive function is there but his problems seem mostly physical and behavioral. He has a sensory processing disorder, OCD, and has this awareness similar to that of an Autistic child (unable to be aware of others needs and desires, his perspective is the only perspective) but he is a very social child when it comes to adults. He still doesn't play with other children and instead just watches them.

We were told that my son most likely has a neurogenetic disorder but a regular panel and a fragile x panel came back with normal results. We still aren't sure what he has but I am hoping to find out because I am afraid that spinal issues might be a problem. My son has an abnormal gait where his hips, knees and ankles turn outward and his toes don't sit on the floor when he's standing up. His legs bow slightly also. With that and the dorsal dimple, I'm afraid of what it might mean.

We have considered angelman syndrome since he has a lot of symptoms of that and might have been having absence seizure (staring spells that couldn't break him out of). He is a very happy child and actually complacency is actually a symptom of whatever he has. He is rarely upset other then getting frustrated from not being able to communicate. We haven't gone for more testing yet but plan to soon.

If anyone has any suggestions of anything to discuss with his doctor, let me know. I have done all kinds of research but nothing totally fits with my son's behavior other then angelman syndrome.

https://img839.imageshack.us/img839/3686/0xe1.jpg
My beautiful ginger, Holden!

 

[clara123]

Ah he's gorgeous!! I don't really have any advice but I hope you get an answer soon. He is gorgeous though! X

 

[SammieGrace]

What a cutie! My little guy is special needs as well and has some similar traits to yours. My son is 22 months and just started walking about 6 weeks ago after 6 months of weekly PT. He has been diagnosed with hypotonia, and did not latch well at all with breastfeeding, I pumped for three weeks and saw 3 lactation consultants before I finally got him to nurse. Now at almost 2, he only has a few words, "Ma, Dada, and Hi" that he doesn't use that regularly. He doesn't recognize any colors, shapes, body parts, names of food, ect. We are trying to get him in speech therapy now. I understand the hypotonia and late walking, but we dont have an answer as to why he can't talk/communicate. Just wanted to say hi and let you know you aren't alone

 

[Ninagrrl]

From what I understand about hypotonia is that it can effect both the vocal muscles as well as the tongue. Holden could say certain sounds but had a really hard time saying other sounds for the longest time. Once he gets something though, he really runs with it and learns it fast. Towards the end, I think my son was just really frustrated with talking and didn't want to try anymore and seemed to lack a general confidence so he started saying things with his mouth shut. Now we tell him to open his mouth and say "Ahhhh".

My son used to only use "Dora" in context because it was really the only thing he wanted to watch for a long time. Now he likes Sponge Bob though. Dora was his first word and Hi was his second. He also could say almost all his ABC's except J, K, and W. He recognizes colors and shapes and numbers and he can indicate all of them by verbal instruction. Now though he says all of his colors, all his abc's, some shapes and 1-10. He can also sign all done, eat, and more.

My son can see patterns and particularly likes circles and things that are yellow. He can play Mary Had A Little Lamb on his keyboard and learned it in a week. He is an amazing little guy and such a ham!

He is sensitive to stimuli and tends to get over excited but luckily is easily distracted.

 

[cookette]

No answers for you, but had to pop in and say he is SO cute! What a handsome man!

 

[sun]

My son is 3.5 and has hypotonia and hypermobility. He also rarely moved in utero. He was born 5w early (but big for gestation) and has issues with latching (though they originally put most of his problems down to him being early). He also was late with milestones, crawled and rolled at 13m, and took a long time to walk well. He was diagnosed with global developmental delay since he also has a speech delay. Is your son with a speech therapist? For my son the hypotonia affects his speech and lots of his issues (lack of speech, lack of ability to chew well, couldn't blow out a candle or blow a whistle, etc) were related. Though unlike your son, mine can't hold his mouth closed for long due to the weak muscles and he also has lots of sensory issues with putting things in his mouth, clothing, etc.

I do know a little boy with angelmans, but he seems to be more severely affected than your son. He also has epilepsy and can't walk with a consistent motion (not sure if that makes sense, but I can't explain it better). But like any other syndrome, there are mildly and severely affected kiddos. I hope you get some answers soon! xx

Also your son is beyond cute - I want to squeeze him!

 

[Ninagrrl]

My son is 3.5 and has hypotonia and hypermobility. He also rarely moved in utero. He was born 5w early (but big for gestation) and has issues with latching (though they originally put most of his problems down to him being early). He also was late with milestones, crawled and rolled at 13m, and took a long time to walk well. He was diagnosed with global developmental delay since he also has a speech delay. Is your son with a speech therapist? For my son the hypotonia affects his speech and lots of his issues (lack of speech, lack of ability to chew well, couldn't blow out a candle or blow a whistle, etc) were related. Though unlike your son, mine can't hold his mouth closed for long due to the weak muscles and he also has lots of sensory issues with putting things in his mouth, clothing, etc.

I do know a little boy with angelmans, but he seems to be more severely affected than your son. He also has epilepsy and can't walk with a consistent motion (not sure if that makes sense, but I can't explain it better). But like any other syndrome, there are mildly and severely affected kiddos. I hope you get some answers soon! xx

Also your son is beyond cute - I want to squeeze him!

He was working with a speech therapist but the Infants and Toddlers Program here ends when he turns 3. He was getting that in preschool but it let out for the summer. I need to start him on ST, OT, and PT but between being pregnant, trying to get my diabetes under control, my son's habilitative intervention and support hours (17 hours out of the week), and my SO trying to look for a job, it's been hard to schedule anything more.

My son has severe food issues and from about 18 months until recently, he has pretty much only eaten bread, cereal, peanut butter, pancakes, and of course candy. He is allergic to milk so he drinks a fortified cocoanut milk just fine. He now is eating more things like egg salad, mac and cheese, chicken nuggets, yogurt, cheese sandwiches, and as of yesterday, pizza. Not that most of that is very healthy but at least he is expanding his variety. Still no fruits or veggies but I sometimes he lets us sneak in strawberries or blueberries to his pancakes and I'm planning on trying to sneak peas into his mac and cheese. He also won't eat something too warm. It has to be almost cold or cold.

The only reason I say that I think he has angelman syndrome because he has a lot in common with it even if it isn't a severe case. Especially since he doesn't have MR. He doesn't score high cause of his lack of communication but all of his workers have said that they would say that his expressive language is so low that he also gets a low receptive language score which effects his overall cognitive score.

This is what he has in common with angelman syndrome:

Global developmental delay

Possible mild ataxia, balance problems as well as nausea and vomiting when no one else is sick. Spells of this are not common but when he gets tired or is more physical he commonly has balance issues. He has a gait issue and walks strange (is duck footed so not sure if that effects the way he walks). He falls and trips on a regular basis and seems to have dizzy spells.

He is overly complacent, over excitable and does a hand flapping motion and rolling his ankles in a circle when he gets too excited. He is an overly happy child and although he does have his frustrations can sit in a doctors office for an hour and a half with nothing but his leap pad to distract him. He's an excessively well behaved child.

He has had a speech impairment for a long time and even though we are now getting him to talk he says almost all words wrong in some manner and can't say more then 2 - 3 word phrases but understands full sentences and can fallow 2 step instructions.

Unsure of seizures but he may have had absence seizures when he was younger because he used to have staring spells that saying his name, waving in front of his face and clapping wouldn't jar him out of.

He has a flat spot on his head that almost has a "corner" to it that has never gone away. Used to be more pronounced when he was an infant.

Hypopigmented skin, light hair. Although I was a very fair child, his father has olive skin and my hair is dark brown with red highlights and his father is so dark brown it's almost black. There is no blondes on either side. He was born blonde but it has turned that beautiful strawberry blonde color. He has light light blue eyes. So light they are almost not blue but silver instead.

Wide base gait. His toes turn out more, one foot more then the other but he walks with feet shoulder length apart.

Sensitivity to heat, both in outside temperature, having too much clothing or blankets on as well as with foods and liquids.

My son is obsessed with water. Pools, lakes, bath, puddles, dog and cat bowls, cups, doesn't matter, it's hard to keep him out of it if it's around.

Constant constipation.

This list was taken from the angelman.org website facts about angelman syndrome pdf file. He has all from 100% catagory, possibly 2 out of 3 of the "more then 80%" category but he hasn't been tested for it. And 12 for sure, possibly 14 out of 21 of the 20% to 80% associated sypmptoms.

I just need to get him going on testing and get him in to see a pediatric neurologist.