New here and Questions :)

Tiffany - posted on 06/15/2011

I also asked them about his Pituitary testing and they said yes, that was part of the mass testing they did and it was normal.... UGH

Tiffany - posted on 06/15/2011

I talked with Endocrine yesterday and we have a possible answer. Endocrine did a "General" genetics on him since the wait for Genetics was so long..... They said that Noah has a deletion on part of his X Chromosome and a duplication on part of his X Chromosome..... They said they had not called us sooner as they are having to research this with other genetic doctors because this exact deletion/duplication has never been known...... We meet with a team of Genetics at UNC Childrens Hospital 1 JUL and they are hoping they have more answers for us then :( I know they said he has something rare but I was not expecting this rare.....

Michelle - posted on 06/15/2011

I have a son who has some of the same problems. He is 3.5 and is physically not developed to a 3.5 your old level. He is 31 inches high and weighs 22.5 pounds. I am working on trying to figure out what is wrong with him. We just saw an endo. doctor today and I am hoping to take him to see a geneticist soon. I feel your frustration! Just keep plugging away and hopefully you will find answers soon!

Karen - posted on 06/14/2011

Tiffany. above is the diagnose for onh/sod kids really. though it will explain what organ of the body produces what hormone for the body. Look at the stim GH test and what should be on the endocrine list of blood tests ok.chat soon

Karen - posted on 06/14/2011

The Pituitary Gland
The pituitary gland is found at the base of the brain and serves as the body's "master control gland" because it makes important chemicals (hormones) and directs the making of hormones in glands located in other parts of the body. These hormones are required for growth, energy control (metabolism), and sexual development.
Many children with ONH have problems with their pituitary gland ranging from very minor problems with almost no effect on the child, to problems making one or more very important hormones. When a person has problems making hormones in the pituitary gland it is called hypopituitarism.
Your child will be tested to see if there are any problems making hormones. This is done by a doctor who specializes in gland problems (endocrinologist). Tests are done at the time of diagnosis and regularly as your child grows up. A child who initially does not have hormone problems may develop them at a later time. Therefore, it is very important for your child to be tested regularly as he or she grows up.
Growth Hormone The child's small size and slow growth can be seen by plotting the child's height on a growth chart and comparing the child's growth over time with the growth of other children of the same age. Children without enough growth hormone have bones that are less developed than expected for the child's age. Your doctor may order a bone age X-ray of the hand and wrist (or if younger than 2 years an X-ray of half of the body) as part of the evaluation of your child's growth.
Blood tests to measure hormones important for growth and controlled by growth hormone can also be done. These are called IGF-1 (somatomedin C) and IGFBPs. These blood tests help tell if one has the ability to make enough growth hormone.
The endocrinologist can do a special test call a growth hormone stimulation test to see if the child is making enough growth hormone. This is done by giving the child special medicines that make the pituitary gland release growth hormone. Small amounts of blood will be taken frequently over a period of about 2-3 hours to measure the amount of growth hormone made by the pituitary gland.
About 6 in 10 children with ONH do not make enough growth hormone. If your child is found to not make enough growth hormone to grow normally (called growth hormone deficiency), he or she may need to get growth hormone shots 6 nights a week at least until the child has finished growing and probably throughout his or her adult life. In adulthood, growth hormone treatment is important to maintain strong bones and normal metabolism. These shots are easy to give and almost all parents are able to give them to their children after receiving instruction. With proper treatment you can expect your child's growth to be close to what it would have been without a growth hormone problem
Thyroid Gland and Thyroid Hormone
Thyroid hormone is made by the thyroid gland in the neck. The thyroid gland normally makes the right amount of thyroid hormone because the pituitary gland tells the thyroid gland how much thyroid hormone it needs to make. With a poorly functioning pituitary gland, the thyroid gland does not get the proper signal (TSH) to make thyroid hormone when it is needed and the person does not make enough thyroid hormone (hypothyroid). Thyroid hormone helps in normal growth and helps make energy for the body to function (metabolism). Lack of thyroid can lead to poor growth, slowing of mental and muscle function, weight gain, feeling cold, irregular periods (menstrual cycle), hair loss, hoarse voice, brittle nails, and dry, coarse skin. Lack of thyroid hormone can be shown with blood tests which measure the amount of thyroid hormone in the body. The main thyroid hormone measured is called thyroxine (or T-4). Thyroid hormone levels should be checked when the diagnosis of ONH is made and at least every year after the diagnosis.
If your child lacks thyroid hormone, he or she can easily by treated with thyroid pills taken be mouth every day. Your child will need to have T-4 measured regularly to see if the right amount of medicine is being given. With proper treatment, your child's thyroid problem will be corrected and he or she will not suffer ill effects.
Sex Hormones The pituitary gland produces 2 hormones (called gonadotropins) involved with forming the male sex organ (penis) before birth and sexual development (puberty). These hormones (FSH-follicle stimulating hormone; and LH- Leutinizing hormone) signal the male sex gland (testicle) or female sex gland (ovary) to produce the sex hormones ( male-testosterone; female-estrogen and progesterone).
Before birth these hormones cause a boy's penis to form normally. Boys missing these pituitary hormones can be born with a smaller than normal sized penis. Treatment with hormones can usually make the penis grow to normal size. Often these treatments are given during the first year of life.
During teenage years (adolescence), these hormones cause a boy or girl to mature sexually (go through puberty) and enable them to make babies (reproduce). They also control a woman's periods (menstrual cycles). Without these hormones, a person's sexual development is delayed, a girl's periods are absent or irregular, and it is difficult to father a child or become pregnant.
When problems with sex hormones are suspected, the endocrinologist will perform blood tests. The first time these tests should be done is when your child is less than 8-9 months of age or at the time of diagnosis. If a problem is found, male or female hormones will be given to replace the missing hormones. With proper treatment most people with this problem are able to develop sexually, have normal sexual function, and make and have babies normally.
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Adrenal Glands and Cortisol Cortisol is made by the two adrenal glands located on both sides of the middle of the back above the kidneys. A hormone from the pituitary gland (ACTH) signals the adrenal gland to make small amounts of cortisol at various times during the day. Cortisol is also made during times of physical stress (such as during surgery, when suffering from an illness or injury, or when the body is dehydrated). The extra cortisol is necessary to help the body continue to create energy, control the blood sugar and allow for proper heart and lung function. The normal pituitary gland signals the adrenal gland during these periods of stress to make extra cortisol. Your child should have blood tests to see if he or she is able to make enough cortisol. If the level is found to be low, some children will need special tests (called cortisol stimulation tests) to find out if they make some cortisol or if they are not able to make any cortisol.
If your child is found to not make enough cortisol, he or she may need to take cortisol by mouth 1 or 2 times each day. Additional cortisol might also be necessary during times of physical stress. If your child has problems with cortisol, you should get additional information about caring for a child with this problem.
Low Blood Sugar (Hypoglycemia) Lack of growth hormone, lack of cortisol, or lack of both can cause a body's blood sugar level to be low. With a poorly functioning pituitary gland, theses two hormones might be low, causing a person to have low blood sugar. The sugar in the blood is needed to supply energy to the body. If sugar level is low a person might feel tired, pale, sweaty, confused, be unable to think, to use their muscles well, or have a very fast heart beat. If the blood sugar is very low the person might pass out, become unconscious or have a seizure (fit).
If low blood sugar levels are suspected, a blood test can be done when the person is feeling badly to tell if the blood sugar is low. You might be taught how to measure the blood sugar level in your child. This is done by getting a small amount of blood from your child's finger and testing it with a special blood sugar meter. If the blood sugar level is low, the endocrinologist might recommend hormone treatments and/or frequent feedings to control the blood sugar level. Low blood sugar can usually be controlled with proper treatment.

Tiffany - posted on 06/14/2011

No, Russel Silver Syndrome has not been discussed. I know the Endo doctors said he did not have any " features" of well known syndromes.....

Iridescent - posted on 06/14/2011

The geneticist might have some good answers for you. This does sound like it could be a couple things, but the only one I can think of right now is Russell Silver Syndrome. Has that been discussed or ruled out?

Tiffany - posted on 06/14/2011

The Endo doctor also said that since his hormones are good that there would be no reason to come back to them after his Aug 4 testing unless genetics says he has a rare syndrome that hormone injections might help..... IDK! UGH

Tiffany - posted on 06/14/2011

Hi Karen, the Endo doctor at UNC just told me that all of his blood work came back normal. That they expected to see something abnormal but did not. They did two bone age scans and they also came back normal ( which they expected to come back abnormal) they said that in Aug they are going to test for some " more rare blood diseases" and see what genetics says. As of right now this is what we have all found out etc:
-He is allergic to both Kelfex and Penicillin
- They have done CT on his brain and neck ( how they found out about sinus)
- His left leg is 2cm shorter than right with no known reason.
He is 45 3/4 in tall since Jan of 2010 and 34 pounds since Jan of 2010.
- They thought he had undescended testes, 4 pediatric doc, 1 surgeon and one urologist confirmed and sent to UNC for surgery only to find out he has Retractable testes ...GRRR
- Tumor was removed from eye and non cancerous
- mole on head of penis needs biopsy
- Adult teeth have quit forming but at different rates, said he would lose teeth at this rate till 15-16 yrs old :(
- Nutrition has nothing for us
- PDD-NOS with possible ADD or ADHD
- Epi pen for allergy to ALL stinging insects.

They have not done a stimulation test..... Or said anything about IGF1.... They also tested him for diabetes due to " glucose in urine" but said he passes those test also. They keep telling me he has a syndrome but we have to see what syndrome when we see genetics..... I am so confused and frustrated and wore out! My husband came back from Iraq since we were seeing doctors 3-4 times a week and they had all these surgeries that they were going to be doing on him and " in hospital stay" testing.... But now we are at a stand still..... waiting on Genetics.....Sorry, if I wrote too much or gave to much info..... Very frustrated!

Karen - posted on 06/14/2011

Hi Tiffany. Through all the doctors you have seen and the only answer they come with is a sinus problem ?? Has your endocrinist done a stimulation test for the growth hormone ? or is his IGF1 low on the blood chart ? Do you have the chart or results of the blood test ?