I am sure my daughter has a genetic disorder. 14 years of trying to figure it out. Does this sound familiar?

My daughter is the most kind and beautiful child I know, I love her the way she is but I worry about her future with out a name for what makes her special. She has moderate mental retardation, she is smart enough to know she is different. It breaks my heart to see her hold herself away from other kids because she is scared they will reject her. Her skin is extremly dry and it cracks due to pseriosis and exzuma. Since she has hit puberty her bones have weakend. She feel in our house(on carpet from standing)and broke her jaw in two places. She has bone spurs on her elbows and knees. She is showing hemihypertrophy now in her hands, feet, and breasts. She has abnormal facial features acording to her pediatrition. She looks like anyone else to me. Asthma is geting to be scary also. Genetic testing was performed 4 years ago with no diagnosis, going to be tested again next month. I know I cant change her I love her the way she is, want to know what to expect in the future.

I am sure my daughter has a genetic disorder. 14 years of trying to figure it out. Does this sound familiar?
It sounds to me like she has enough medical problems that socialization may very well become a secondary problem. Her medical conditions may cause her to be "stand-off-ish" with others due to pain and discomfort. Keep in mind, kids want to run and play and jump, etc. Bone spurs, etc, are very painful.





Perhaps what would help her most is to have a few really good friends who would do things she likes and is able. Maybe you could get some playtimes set aside for some activities she enjoys, for her and two or three of her closest friends?





What you can expect in the future is the medical problems outweighting EVERYTHING and activity must be correlated to what she is able to tolerate. I fear she will have a lot of pains and aches with these disorders. You will stand between her and everything for her whole life as a source of protection and care. I would strive to raise her just like all the other children, and treat her no differently. She will respect you for it.
Reply:do they give any name to her disorder? are you in any parent support groups?
Reply:My best suggestion to you is to find another pediatrician. Try contacting your local March of Dimes chapter and ask if they can recommend a pediatrician with a background in genetic defects.
Reply:I understand that psoriasis has its cause in candida (yeast) fungus. This does not have a definitive test. If that is the cause of her psoriasis, it may be causing other problems. In me, it aggravates my diabetes - and may be responsible for my high insulin (hyperinsulinemia) to begin with. If she has high insulin - which does have a definitive blood test - she may have low blood sugar.





I have bone spurs on the heels. High insulin can lead to osteoporosis.





For basic information on hypoglycemia, check out www.hufa.org. For basic information on hyperinsulinemia, check out www.mayoclinic.com and search for hyperinsulinemia.





For basic information on the systemic yeast syndrome, check out the link on the Welcome page of www.hufa.org.





Hope this helps.
Reply:Sometimes there isn't a clear cut answer to what is. But it sounds like you are a wonderful supportive mom. There are a number of social organizations that can help like goodwill. Many of these individuals can live and work together or interact with each other. I work in a hospital and we have a group of individuals that shred our confidential information for us. They also perform housekeeping and groundskeeping duties as well. They are a delightful and most of the time happy group. They take great pride in what they do and they are a joy to us who see them every day. This situation may not be ideal for an individual with health problems. That is the part that is most worrisome. I wonder if you can get a referral for more extensive evaluation through the shriner's. I suspect that your child needs to be seen by someone that specializes in genetic disorders or an endocrinologist. Some metabolic disorders cause severe physical and developmental problems as well.
Reply:this website has some info about mental retardation among children and similar content please browse this as well





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Reply:I would assume that your daughter has had routine blood tests to check different hormone levels. How is her thyroid and adrenal gland function?