Chromosomal disorders/global delay

My son Levi is 4 1/2, 5 in December. He was diagnosed with a significant speech delay 2 years ago and has been in therapies for it since. Today we had an appointment with a development specialist who did another full spectrum diagnosis on him. He now has a diagnosis of a global delay. Mentally, physically(fine motor) and emotionally he is a 2 year old, socially he is about 3. He is not autistic or anywhere within that spectrum because his social skills and interactions are his strong points. She feels strongly that he has a Chromosomal disorder. Monday we are taking him in for genetic testing.

I'm just so thrown off balance right now. Has anyone been through this whole process? Can you tell me what to expect? I'm afraid to look online because I'm just going to think the worst. I'm so upset and sad and guilty.   Even if it's not a chromosomal thing he is still extremely delayed and has only advanced 6-12 months in 2 years with special therapy in a special needs pre-k 5 times a week. They are starting him in intensive therapy now. He'll go to a full day of school with additional outside speech and occupational therapy.

I'm just looking for someone to reassure me and just talk about it. My husband refuses to believe any of it and has refused to talk to me about what the Dr has said.

I'm sorry you're going though this. I hope your DH can come around. You really need each other right now.
*hugs*

That's hard news to hear, Jess. Did they say which disorders they were looking at specifically?

We took Katie for genetic testing and was negative for everything they tested for. They were looking for a genetic problem as the cause of her autistic behaviors, but this was before she was formally diagnosed. She had soft markers for all kinds of stuff (small jaw, large head, underdeveloped nasal bridge), but nothing out of the ordinary came up on the tests.

Don't do too much googling and it takes a while for those tests to come back a lot of the time, so try not to stress too much, even though that's probably impossible at this point. ((hugs))

Quoting Epic Big Head:" That's hard news to hear, Jess. Did they say which disorders they were looking at specifically? We ... [snip!] ... to come back a lot of the time, so try not to stress too much, even though that's probably impossible at this point. ((hugs))"

No, I asked but she said there was just to many to consider at this point. They said 6-8 weeks for the testing to come back and then he'll likely need an MRI. If it comes back normal they want to check his brain activity and if it's abnormal they will probably need to check anyways. I'm way to scared to google it, I know I'm going to pick the worst case scenario and run with it.

I am sorry you are going through this right now. I really hope they figure it out. No matter what is going on figuring out what it is, is the first step in treatment. I will pray it is nothing and theerapy will help!

Quoting Mel & a girl named Pey:" I am sorry you are going through this right now. I really hope they figure it out. No matter what is ... [snip!] ... what is going on figuring out what it is, is the first step in treatment. I will pray it is nothing and theerapy will help!"

Thanks Mel! I of course couldn't stay off google and now I'm half convinced he has idic 15. He has all the facial characteristics associated with it and 8 out of 10 common symptoms.   I need to stop but I can't stop obsessing.

Quoting 3 little monsters:" My son Levi is 4 1/2, 5 in December. He was diagnosed with a significant speech delay 2 years ago and ... [snip!] ... me and just talk about it. My husband refuses to believe any of it and has refused to talk to me about what the Dr has said. "

I'm so sorry Jess - I don't know what to say other than I'm here if you need to vent and I adore Levi and hope everything will be okay!

Does he have any sensory issues, you know, like super sensitive skin or hating tags, stitches.. hair being touched, water in face etc?

Quoting Tasha & Nika:" I'm so sorry Jess - I don't know what to say other than I'm here if you need to vent and I adore Levi ... [snip!] ... have any sensory issues, you know, like super sensitive skin or hating tags, stitches.. hair being touched, water in face etc?"

yes, he was diagnosed today with sensory issues, I suspected it for awhile though. He's extremely sensitive to sounds, milder sight and touch issues, nothing with taste or texture that I've noticed. Fireworks set off panic attacks, he's very sensitive to large groups of people, heights/deep water where is feet are off the ground, even jets and loud toilets are upsetting to him. He doesn't like being touched by people he doesn't know but he likes touching things. I didn't realize that was a part of it but apparently it is. When he's in a new place he will go around and touch everything even smelling it, they said it's a part of how he processes his surroundings. He can't just look and understand, he needs to feel, smell and see. When he's upset I'm supposed to "pet" him, I tried it earlier and it worked. He was flipping out over something at home so I started patting his hair and rubbing his arms, he calmed instantly. It was like magic instant calm from piercing screams and flailing his body around. I'm not sure why but they said it basically helps him focus somehow, like me touching him in a slow repetitive motion gives him a focal point when his sensory issues are out of control and he's unable to calm himself.

Quoting 3 little monsters:" Thanks Mel! I of course couldn't stay off google and now I'm half convinced he has idic 15. He has all ... [snip!] ... the facial characteristics associated with it and 8 out of 10 common symptoms.   I need to stop but I can't stop obsessing. "

Yeah you need to peel yourself away. Just remember no matter what he is still the baby boy you love!

  Sorry to hear you are going through this Jess. Levi is the sweetest boy. Alanna loves to look at his pictures and even remembers his name.

When we were seen by EDIS the developmental pedi suggested Alanna might have one. She wanted us to do this blood test that was extremely time sensitive. She said Alanna had the facial traits... I do not remember what it is called. But basically it scared the smurf out of us. Alanna ended up not having it. They have to look at all causes because delays don't make sense. I think it is rather annoying that everyone must have a diagnoses. He is progressing! He is a lot further than Alanna. Just listen with a grain of salt. Keep the therapy.

Quoting 3 little monsters:" yes, he was diagnosed today with sensory issues, I suspected it for awhile though. He's extremely sensitive ... [snip!] ... a slow repetitive motion gives him a focal point when his sensory issues are out of control and he's unable to calm himself. "

Poor little guy - he's got so much to deal with, and you too =(

Meh. I don't know what to say but that I believe you are strong and you can get through this until you guys have more answers <3

Quoting ♥ Olive Oyl:"   Sorry to hear you are going through this Jess. Levi is the sweetest boy. Alanna loves to look at his ... [snip!] ... must have a diagnoses. He is progressing! He is a lot further than Alanna. Just listen with a grain of salt. Keep the therapy."

I think what they are worried about most is that he has no reason to be this delayed and not progressing. No environmental factors contributing to it or anything. I kinda wish I had something to blame it on because then maybe I wouldn't feel like it's my fault anymore. IDK Chromosomal disorders are rare and a lot of them have distinctive features accompanying them. There's only a few that he would really fit and they are super rare so I just keep telling myself that the chances are slim. Whats the chance of my son being 1 in 1,000's you know?

Quoting Tasha & Nika:" Poor little guy - he's got so much to deal with, and you too =( Meh. I don't know what to say but that I believe you are strong and you can get through this until you guys have more answers <3"

Thanks Tasha, you don't have to say anything. Just the fact you care enough to want to know what's going on and lend support means a ton to me. <3

Quoting 3 little monsters:" Thanks Tasha, you don't have to say anything. Just the fact you care enough to want to know what's going on and lend support means a ton to me. <3 "

I just hope you get the needed support from.. well you know who - men are just argh sometimes, sticking your head in the sand and pretending something is not real is NOT going to make it go away.

we are going thru this right now.they think my sone has digeorge (22q11.2) tho the only issue he is having is hypocalcemia, and he already had a negative FISH test.

if you need someone to talk to you can always PM me. its mostly just a bunch of lab work and a complete physical. they will measure EVERYTHING from the distance between their eyes, to the legnth of their penis, the gap between their big toe and other toe. its a bit ridiculous. were still waiting on our microarray, i really dont think he has anything chromosomally wrong tho, so im not too worried about it. doctors like to make mountains out of molehills sometimes.

ETA it seems like the test for idic is the FISH test. which is no biggie at all, results are quick too. renner had it done when he was a few days old, its justa few tubes of blood.