Hi there. I am posting this on a couple of boards and hoping to get help/hear of similar experiences. I am mom to a 3 month old with GERD who has just been diagnosed with global developmental delays by a pediatric neurologist. I initially suspected something was wrong with her vision and lack of social interaction. Her pediatrician (who I love) initially sent us to a pediatric opthamologist. The ped thought that perhaps baby wasn’t where she was “supposed” to be because of (lack of) vision. The opth diagnosed her as having delayed visual maturity and sent us home. I went back to the ped later because I was still really concerned. My ped said at 3 months she was really concerned, baby didn’t appear to be seeing and was hypotonic. We went for an MRI (last week) and to see the neurologist today. I have been noticing some improvement in her social interaction (I am able to get her to smile occasionally) and she is starting to use her hands a little more and she kicks her feet a lot. She will not try to bear weight on her legs if you hold her upright. She is also babbling and “talking” when we talk to her. Her vision seems to come and go, like a switch is being turned on and off. She doesn’t turn to loud noises or blink when you come at her unless you have gotten her attention first.
I’m frustrated with the neuro. He says we can’t really tell what’s wrong with her or how severely affected she is until she matures and we see how much progress she is making. He wants me to contact our regional center for EI (which I was planning on doing anyways) and a physical assessment. She has toricollis (sp) of the neck, which he is concerned about. I asked him about vision therapy and he sort of dismissed the notion as unnecessary, said it wouldn’t be helpful. He also told me I should be more concerned about cognitive delays than visual – he used Helen Keller as an example and said even though she was blind/deaf she had normal intelligence and was able to compensate. This was very disturbing.
Maybe I’m just upset because he had news to deliver that I didn’t want to hear, I don’t know. I’d like to feel more optimistic about her chances for a “normal life” but don’t know how. I also asked him if this was genetic, was it likely to occur if I had another baby? He said there’s no way to know, I stand a 1 in 4 chance, what would I do if baby #3 did have problems?
This is a lot to take in right now. I’m feeling very overwhelmed. Julie

Julie...I am so sorry that you have to take all that in....Maybe a second opion could put you at ease?

I don't have any advice as I have no experience with this, but I just wanted to give you a big (HUG) and I hope things get better for you!

Oh Julie, big {{{{HUGS}}}}. I'm so sorry that you have to go through this. I'm so sorry that I have no advice for you, I just want you to know that you and your family will be in our prayers.

Boy, you story sounds all too familiar. Sam is almost 14 months old and we have been searching for answers since birth. I will try to make a long story short--he only functions at about a 3 month level, has swallowing issues, is tube fed, very hypotonic. He can not even support his head. We have a great group of doctors working with us, but all of our questions are not answered yet. we do not know what his level of function will be as he gets older. We just have to wait and see, which is the worst part of it all.

We have been involved in an early intervention program with our school system and I strongly urge you to look into something like that. early PT/OT has helped Sam. He also has optic nerve atrophy and there is some question about his vision and we have a vision teacher who works with him as well. i also have him enrolled in a reaearch study to help manage some behavior issues he has. I would also encourage you to see a geneticist if you have not allready done so. A second opinion from another neurologist would not hurt. the more docs who see you child the better---if it is a rare condition, it may take finding just that right person to diagnosis her. that is where we are at now. Sam's docs have been great, but I am consulting other specialists in the hope that someone can give us the answers we want. this has become my new full time job.

i wish you the best of luck and feel free to e-mail or PM me. good luck.

This may sound dumb on my part, and if it does, I am sorry----but isn't she a little young to have received that diagnosis???

I thought she was a little young for such a devastating diagnosis - but what do I know? I just didn't get a good feeling from the neuro. I knew she was behind but thought she was making *some* progress. Perhaps I am in the denial stage? Maybe I am reading to much into what the doc said. I just wanted to start getting her as much help as soon as possible. I am hoping that the EI people will help me feel a bit more optimistic - set some goals for her and give us something to work toward. When I asked doc how I could help her he just said play with her. Thought that was a bit vague.

Thanks a lot for responding guys. I really appreciate your replies. All of this is making her reflux seem pretty darned minor (albeit a pain in the butt). Julie

Hi Julie,
I think it depends on who you work with in EI. We have had both negative and positive experiences so I would go into it with some low expectations at first. I would rather be pleasantly surprised than disappointed.

I don't have a ton of experience with this, but I wouldn't act as if this is her diagnosis just yet. From what I know about developmental delays, they can't diagnose a child with an official syndrome until they are older. This one may be different, I am not sure. I am not saying dont get her help---I think you should get her all the help you can with qualified and caring professionals. But, in your mind, I would go with the fact that she is delayed and needs extra help to develop. In time, you will see if there is a real diagnosis or not.

Sorry I am not much help, I can send hugs though--
:hug: -

Julie, I wanted to add that I am a member of a support group for special needs kids and we have mom's who say that docs gave them little hope for their children and they are doing great years later. Like Carla said, it is so early in her life and you never know what she will do. Doctors do not know everything, they are human.

It does seem extreme to start using Helen Keller examples when the neuro was pretty much unable to tell you anything about the seriousness of her condition at this point.

I would look into EI. We've had mixed results, too. My son was three months premature, and exercises from the PT really got him on track. But his feeding issues seem to be a bit beyond help from the therapists we've seen. Still, I assume you want to know you're trying everything you can. (You can STILL play with her, too! :wink: Like you need a doc to suggest that.....)

I agree with Carla about 3 months being very young to diagnose global developmental delays. We have that diagnosis for Evan, but it was much later in coming...more like past his 1st birthday, when he had "proven" that he couldn't roll and that he didn't sit when placed until 10 months, etc. Much of your child's story, except for that early dx, sounds like Evan's, even down to the torticollis. We're still looking for the "official" diagnosis of what is causing all of Evan's delays, sensory issues, GERD and DGE.

I also wanted to add that Chelsea held her head up, rolled over, and sat unassisted on time. She crawled at 10 months and walked at 13 months. She said her 1st two words at 9 months. Shortly after turning one, she stopped developing. She couldn't do a number of things by the time she was 2--other things I found so insignificant to be honest that I don't remember what they are! But nevertheless, when evaluated at 2 they placed her in program for children who were globally develolmentally delayed. According to their evaluations she was 30-50 percent delayed "across the board". In EI, they are not able to diagnose--had we gone to a neurologist, who knows what diagnosis we may have received. She was terrified of people and at 2 was still not talking--we probably would have gotten a false autism diagnosis had we gone to a neurologist that was less than great. I didn't agree with any of the professionals and actually pulled her out of EI programs. I even refused to take her to a neurologist. My parents and my hubby kept saying she was going to be fine--that she was in pain and needed more effective GERD treatment instead. I worked with her myself at home and tried to help her with her GERD.

She was delayed-- she didn't start talking until she was 3. She stopped being scared of people once she could talk and once she didn't spend so much time in the doctor's offcies and hospitals! ;-)

But once she turned 3 and her reflux was under control, she got better and now that she is older I have a more accurate view of what she still needs help with. It consists of feeding mostly and what kid with severe reflux and two fundos does not need help overcoming feeding aversions?!

I again am not saying dont seek EI services. We got them for my son and are having a much more positive experience so far. I agree with their view of my son so we are proceeding. The point I wanted to make in this long explanation is that if you in your gut disagree with this doc or any others for that matter, move on. Find out what you can do in addition to the EI services to help her. She may end up pleasantly surprising you when she is older like Chelsea did! If she doesn't and she stays delayed, by the time that comes you will know her so well you will be able to be what she needs. No matter what- you will both be fine because you will do what it takes to give her the best possible everything regardless of her abilities or lack thereof! Hang in there and try to not be discouraged.

Zoee was daignosed as global delayed as wellat 3 months. Basically the similar things that you are saying except her eye sight was fine...she just couldn't focus on objects. We started Ot, PT, feeding therapy on her right away which has helped. I was told by the neuro that hse wouldnotbe walking by 2....well, she is plus starting to run. She is now 21 months and has come along ways. She is at about an 12-18 level but i think when she is 2 things willbe okay! I hope that may keep you some to hope for as well for your little one!!!

Thanks girls. I went back to the opthamologist today for a follow up and she was a bit surprised by all of the things that the neurologist said. I am feeling a bit better about that. I think he was a bit far reaching in his diagnosis – maybe I just didn’t like hearing what he had to say, only time will tell. I am hoping that EI will be a positive thing. I’d like to get her help as soon as I can. That’s one thing that was so disturbing about the neurologist, when I asked him about vision therapy he said why bother, that’s like trying to teach my tone deaf mother in law to sing, I know she can’t do it. Today the opthamologist said she CAN see and has made progress in the past 3 weeks since she first saw her. The neuro we saw was not the one my pediatrician rated the highest, he was the one who accepted our insurance. I think I will pay for a second opinion from the doctor she preferred.

Thanks again for the replies.

That is great Julie...I would get a second opinion also...I hope it all works out for you guys, and keep us posted:)

Julie,
I read your story and know what you are going through. Alex's early story is posted under the Personal Stories section of the website and since then out journey has continued. Alex was born with a variety of medical conditions that made him a little unique. Hypotonia was one of them. At 3 months old, he couldn't even hold his head up. Doctors told me they weren't sure if he would ever be able to hold his head up. One doctor admitted that he didn't even think Alex was going to make it. Well he did. Through my blood, sweat and tears, he's still here two years later...and thriving!! He's a chunky little guy filled with personality. His hypotonia has caused gross motor delays and severe reflux but he makes progress every day.

Don't loose hope. I remember the early days when the world seemed so gray and uncertain. You will get through this.

As far as a genetic condition goes, Alex has had so many tests it's unbelievable. They have come up with no syndrome or condition to accurately label the symptoms. The geneticist tells me it could be a recessive condition or it could have been a fluke. I haven't fully come to terms with all the info but I'm getting there.

Well, this turned out to be a long reply but I guess I just had a lot to say! Take care. My thoughts are with you.

I guess I'm due to update, a lot has changed in the past few weeks. Brittany, I looked for Alex's story but didn't find it. You said it was about a year ago? I'd be really interested in reading it! Thanks for the kind words. Julie

I sorry I have no advice for you about this condition, but as you can seen you have some great support on your side already with these moms. Just sending a hug!