Discussions By Condition: I cannot get a diagnosis.

Need help on where to turn

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: CAHOLO
  • June 1, 2009
  • 07:53 AM

I have a 5 yr old son. He has had many symptons that the doctors can not figure out what they are since he was an infant. He first appears normal to most people, so no noticible deformities. He has had developmental delays, heat sensitivities, skin issues, water fear/sensation issues and behaviorial issues. He was born about 3 weeks early, since I was a gestational diabetic. He was kept in the NICU for hypothermia, hypoglycemia, jaundice, and feeding issues for 8 days as a newborn.

He had developmental delays and skin issues since he was an infant, including ezcema and hives/rashes. He is allergic to artificial food coloring and perfumes (must use detergents/soaps that are perfume/dye free and dye free foods). He will break out in hives if he comes into contact with perfumes/dyes. He has an issue with water since he was a newborn. He would scream and cry during a bath, but for bathtime it is pretty much fine now, as long as the water temp is perfect and he refuses to take showers, due to water being on his face. His skin will become bright red if its too warm and he complains that its hot, but he complains that its freezing if its lukewarm. He refuses to get in pools and/or lakes. It was first noticed for the heat sensitivity during his first summer (6-8 months old), he would develop a red/yellow patchy rash, fever, and extreme fatigue if he is exposed to temps that are too warm for more than 5 minutes. Kept in cooler temps (AC), pushing fluids, and spraying his face with water helps (this part he hates). He is fine in the early morning and dusk times of the day during the summer. However, he is rarely up before 8-9 am. One sympton related to the heat sensitivity, seems to be the lack of sweating.

His developmental delays have mainly been in fine and gross motor skills. He didn't hold his head up until 6 months, didn't sit until 8-9 months, didn't crawl until 13 months and didn't walk until 21.5 months. He continues to have fine motor delays to this day. He has recently been diagnosed with ADHD and with frustration levels of a 1 yr old. The fine motor delays are related to self-care needs (dressing, bathing, feeding, etc), writing, and catching a ball, etc. He also has a severe bedwetting issue (never has had a dry night in his life and he goes several times in his sleep too).

He is on medication for the bedwetting and the allergies. Which now include an allergy to outdoor mold, which was diagnosed recently too.

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  • He should be under the care of an expert pediatric developmental specialist thoughout his childhood. Of course, organic foods/diet will be very important and you may need to study nutrition/cooking to support his delicate structure. Get to a geneticist, too, for a diagnosis. Check this out:http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Prader-Willi_Syndrome_-_Prenatal I think diet will be highly important, along with your local school district providing the educational services, specialized instruction and related services. He should have a psychological/speech and OT eval through your local district, too.
    Monsterlove 2921 Replies Flag this Response
  • He's had OT/ST off and on since he was an infant. The more recent diagnosis of ADHD and developmental delays was made by a pediatric psychologist. My son went through several days of testing. I am homeschooling by choice. I am looking into local developmental programs, but haven't heard back yet on his possible placement. His PCP sent a referral to the program too. He has had 2 PCP since he was an infant, the change was due to the first one leaving the practice. He was seeing a Pediatric Developmental Specialist until he was about 12-18 months old, which stopped when she moved out of the area. We weren't referred to any other specialist. My son has been on a dye/sugar free diet since he was 2 yrs old when the symptoms became apparent as it was related to diet. Has been on dye/perfume free soaps since he was 2 months old. Have had to read labels on anything that comes into contact with his skin or the foods he eats. I do my best to prepare and buy organic foods, but not the easiest when I have a tight and fixed income. I am also disabled and receive SSI/SSD. I am raising him completely on my own without help from his father. His allergist was pretty impressed that I had already took measures on his diet long before my son finally met the allergist a couple months ago and that I noticed the reacion early and took appropiate action. He has seen a dermatologist, whom wouldn't listen and automatically assumed he had an allergy to the sun. He put him through several blood and direct UV testing, which all came back negative. His reaction of heat sensitivity occurs in a hot room, outside, and even with too much exercise. Between the allergies and the heat sensitivity is part of the reason of myself choosing to homeschool my son. I will look into the geneticist though, just not sure how it would work with his insurance and how easy it would be to get a referral from his PCP. A referral is required under his insurance to see any doctor other than his PCP. He just recently had the eval for his developmental delays and the ADHD, as well as the allergist. Waiting on the referral to a developmental program. He just overcame a serious fungal infection on his scalp. He is overall a fairly healthy child. One thing I did forget is that he does appear to have hearing sensitivity to certain sounds. He will cover his ears and get all upset during certain sounds, such as a a toilet flushing. He was difficult to potty train, but is fully day-time potty trained though now. He just has the problem now with the night-time potty training.
    CAHOLO 1 Replies Flag this Response
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