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Raising Special Needs Kids Raising Special Needs Kids

doctors are no help.....anyone recognize these symptoms

Posted by on Feb. 14, 2013 at 2:47 PM
  • 19 Replies

Here are Ara's symptoms, she has autism, SPD and complex partial seizures and possible drop seizures.

Some days she will be extremely pale, face looks hollow, purple around eyes and lips. Other days she will be really blotchy and red. Bruises very easily.

Hand tremors, her hands shake when she eats, uses a pincher grasp, picks things up ect. It is slight sometimes and very noticeable at other times. Also have weak muscle tone.

When she picks things off the floor, reaches for something usually it is very slow and almost like an old lady. She seems so frail.

She is regressing in some areas. She use to be able to go up stairs alternating feet, pretty quickly. Now she does one step at a time with both feet on the same step, has to hold on for support and is very unsteady. She constantly trips, stumbles and falls. Things she could once say she doesnt say or mispronounces now. She use to be able to count 10 and can not now. Use to get dressed mostly with out help, can not do it now.

The doctors seem to just be pushing us off until she gets worse or she is have a great day when we see them. I dont know....I am calling today to make an appointment with our new pediatrician but it can take weeks to months to get in. 

Lindsay - Mom to two little girls Ara 2/5/10 and Molly 2/10/12. 

Ara's Adventures in Autism

A Service Dog for Ara

by on Feb. 14, 2013 at 2:47 PM
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Replies (1-10):
arkansasmama08
by Gold Member on Feb. 14, 2013 at 3:58 PM

its the fraility and unsteadyness that concerns me. I would get her to a dr asap and demand a blood panel. Maybe more. I hate that drs do that. it drives me insane when they act like we as parents don't know our kids. My daughter is 4.5 with suspected spd and maybe autism. She's had pains in her legs for almost 2 years now. dr did an xray and showed nothing so he'll do nothing. finaly got into an ortho and he did xrays and made her walk and he says its growing pains. I know its not but what can you do?

Good luck mama. Keep pushing! (hugs)

jjamom
by Michele on Feb. 14, 2013 at 4:00 PM
Wow, I don't know, it could be a number if things. What kinds of testing have they done so far? What have they ruled out? I hope you get some answers and help for her soon!
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lifeisajoy
by on Feb. 14, 2013 at 4:14 PM

Definately check it out-not to scare you at all and I am no doctor but ask them how they check for Rett Syndrome

lmevans
by on Feb. 14, 2013 at 5:19 PM

They did one blood test (genetic hospital) it looked to make sure all here genes were there, that there were no duplicates or missing genes, but it did not look at what they genes held....I am not sure of the name of the test. I forgot my note pad when we went. The genetics doctor is the one tell us to wait and see if she gets worse and told us to see the specialty peditrician about the above symptoms. 

He even told me she does not have the autism gene.....and tried to deny her haivng autism. We have struggled with this for so long with her and the doctors just are not listening to us.

She can not been seen by anyone until well after march1st. I dont know what to do now.

Here is a picture of a blueish day her skin color is blueish /purple ish (it is so hard to get a pic of) I think she looks sickly in this picture

lmevans
by on Feb. 14, 2013 at 5:20 PM

also somedays she is so pale her lip color is almost the same color as her skin.

Lindsay - Mom to two little girls Ara 2/5/10 and Molly 2/10/12. 

Ara's Adventures in Autism

A Service Dog for Ara

jjamom
by Michele on Feb. 14, 2013 at 6:08 PM

The blood test was probably a karyotype, which looks at the chromosomes and can show trisomy (three chromosomes instead of 2), deletions, partial deletions, etc.

To my knowledge, they are doing some studies in different gene mutations they believe may be linked to autism, but there is currently no genetic test for it, so I am not sure why he says she "does not have the autism gene".   I would question that.  Autism is still currently diagnosed through a series of evaluations by developmental pediatricians, child psychologists, etc.  Sometimes it is an entire team of doctors that make the diagnosis.

But, with all of the symtpoms you have mentioned, it sounds like maybe something else is going on, or going on in addition to autism.  Keep searching for answers.  I hope you find someone to help you soon!

Quoting lmevans:

They did one blood test (genetic hospital) it looked to make sure all here genes were there, that there were no duplicates or missing genes, but it did not look at what they genes held....I am not sure of the name of the test. I forgot my note pad when we went. The genetics doctor is the one tell us to wait and see if she gets worse and told us to see the specialty peditrician about the above symptoms. 

He even told me she does not have the autism gene.....and tried to deny her haivng autism. We have struggled with this for so long with her and the doctors just are not listening to us.

She can not been seen by anyone until well after march1st. I dont know what to do now.

Here is a picture of a blueish day her skin color is blueish /purple ish (it is so hard to get a pic of) I think she looks sickly in this picture



lmevans
by on Feb. 14, 2013 at 6:15 PM
1 mom liked this

Thank you Yes we have been through all the evaluations and such, so I did not understanding him saying that he is not sure she has autism..ect. I mean with all this plus what we know is going on why not go ahead and run test, what would it hurt?? We are doing a food diary for 3 or 4 days becuase she always has very loose stools.  Hopefully in three or four weeks she will be able to see the specialist pediatrician.

Bluecalm
by Silver Member on Feb. 14, 2013 at 6:49 PM
They may have done a microarray to check her genes. I've never heard of an autism gene, but I have heard that a duplication of a gene causes autism. I belong to a 1q21.1 group. All the kids with the duplication are also autistic.


Quoting jjamom:

The blood test was probably a karyotype, which looks at the chromosomes and can show trisomy (three chromosomes instead of 2), deletions, partial deletions, etc.

To my knowledge, they are doing some studies in different gene mutations they believe may be linked to autism, but there is currently no genetic test for it, so I am not sure why he says she "does not have the autism gene".   I would question that.  Autism is still currently diagnosed through a series of evaluations by developmental pediatricians, child psychologists, etc.  Sometimes it is an entire team of doctors that make the diagnosis.

But, with all of the symtpoms you have mentioned, it sounds like maybe something else is going on, or going on in addition to autism.  Keep searching for answers.  I hope you find someone to help you soon!


Quoting lmevans:

They did one blood test (genetic hospital) it looked to make sure all here genes were there, that there were no duplicates or missing genes, but it did not look at what they genes held....I am not sure of the name of the test. I forgot my note pad when we went. The genetics doctor is the one tell us to wait and see if she gets worse and told us to see the specialty peditrician about the above symptoms. 

He even told me she does not have the autism gene.....and tried to deny her haivng autism. We have struggled with this for so long with her and the doctors just are not listening to us.

She can not been seen by anyone until well after march1st. I dont know what to do now.

Here is a picture of a blueish day her skin color is blueish /purple ish (it is so hard to get a pic of) I think she looks sickly in this picture





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lmevans
by on Feb. 14, 2013 at 7:19 PM

that is it a microarray was the test they ran

mandee1503
by Amanda on Feb. 14, 2013 at 7:33 PM

I have no idea, but hope you are able to get her some answers.

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