NF and Autism?

Hi all, I'm new to the forum and have a 4 yr old son who was diagnosed with high functioning autism. Just recently I read about NF, and made the connection with my son having a cafe au lait spot about 2 inches long/ 1 inch wide, just above his collar bone. He also has freckles in his arm pit and in the groin area which I heard also may indicate NF. He also has a large port stain on his lower back (don't know if that counts). His neurologist will not order the genetic test unless he has 3 or more cafe spots and an MRI is problematic since he had a very extreme reaction to the MRI sedation when we tried it. Also, a recent lab test showed high VMA (7x normal value) which I heard is linked to benign tumors. Is it rare to have only one large cafe spot/ with the freckling and have NF? Can more spots develop as he ages? Should I wait and see or should I push to get him checked? Ds has low tone and motor incoordination and I'm so worried that its more than autism - like something physically affecting him. Any one else have a child on the spectrum/SPD/APD with NF? If so can you recommend how I can get a diagnosis?
Thanks!
Shiri

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From what I understand, axillary (arm pit) and groin freckling may be pretty unique to NF. Has you son had an opthamology exam? I think that would be a useful next step in ruling out other criteria. I'm so sorry that you are going through this. Good luck and keep us posted.

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Hi. Welcome to the group.

Is the freckling on both sides of the body? How large is the port wine stain on his back....when you palpitate it do you feel anything different in that location?

Cindy

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Hey welcome.. My daughter is 5 years old.. She has NF and autism. There was no genetic test done for either of my kids because I have NF. Yes more spots will develop as he ages. You are his mother and you know what is best for you baby. Depending on how your son is acting with the autism and how hard things are for you, I would push the doc to do the testing. If things are not that bad as of right now maybe wait and see if more spots develop. My son was diagnosed at 7 months old. He had several spots, they were not really big but since I have the NF they gave him the diagnoses, and now he has hundereds of them.. My daughter was born with only one kidney so she was in the hospital for a week after she was born and she got the diagnoses when she was born b/c she had the spots already.
Now is there anyone in your family that has NF? If you have it or your husband has it then I would def push for the test because it is very possible that yes he does have it with just one cafeaulait spot.. If you wanna talk more you can email me at mommy_of_anthony_and_brooklynn@yahoo.com

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Thanks fo your replies. We had an opthamology exam over a year ago, but want to go again as we noticed that DS crosses his eyes when he sits up from a sit-up excersize.. The freckling is on both sides, and the port stain almost spans the width of his hips about 4 inches long/1 inch wide, but it is now starting to fade. When I pressed it I didn't really feel anything, but its on the lower back/ spine so there are alot of muscles tissues textures there.
I don't think my husband or I have it. I do have 3 cafe au lait spots, one of them really large, about 6 inches/4 inches length, the others quarter sized. My husband doesn't seem to have any hes a red head and very freckly and many of them run itno each other so its hard to tell. He does have alot of skin tags like over 20. And he had this growth bump that used to develop on his temple under his skin, never new what it was, and had that removed.
Thanks for your advice and support!

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Hi There.
Our Gastrointestinologist referred us to a Geneticist did the genetic testing on my daughter and husband. The earlier your child is diagnosed, the quicker he will start to be monitered. You can get another doctor to refer you for genetic testing. The skin tags tyou mentioned could well be small neurofibromas. My daughter is 5 and her Cafe Olait markings are increasing all the time. She also has the small neurofibromas which begin looking like freckles and down the line, they are raised and larger in size.
My daughter also had a terrible reaction to the mri sedative the first time. The Doctor called it a psychotic episode. The pre-med was the problem so they changed it the second time and everything was fine. Best of luck .

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