Dear Mr. and Ms. Person, I regret to inform you that we have tested your child to have a genetic disorder by the name of Fragile X Syndrome. The Southern blot analysis test determines if the FRM1 (the gene that causes Fragile X) gene has a full mutation, its approximate size, whether the gene has been “methylated” (the process that essentially “turns off” the gene) and if there is mosaicism of the gene (a mixture of different cell types). The test determined the number of CGG repeats that were in the area of the Fragile X gene that is tested. The normal number is 5-40, although your child had 217. Because of this, part of the FRM1 gene shuts down, therefore it cannot make an important protein called FRMP. Fragile X is a gene on the X chromosome. Since a woman has two X chromosomes a woman with a premutation (55 to 200 CGG repeats) or full mutation has a 50% chance of passing on the X with the mutation and the same chances that she passes on her normal X in each baby that she has. If she has a premutation which is passed on, it can either remain a premutation or become a full mutation of FXS. If she has a full mutation and it is passed on, it will remain a full mutation no matter what. Fathers who carry the premutation of FXS will assuredly pass it on to all of his daughters. They will not be able to pass it to any of their sons because they pass their Y chromosome to their sons only. However, there have been no cases of premutations that are passed from a father to his daughter becoming a full mutation. From what we know so far, this only occurs when passed from a mother to her children, whether they be male or female. One main symptom is his intellectual abilities and learning abilities. Many people with Fragile X have problems with intellectual functioning. These problems can range from the barely noticable learning disorders or problems with mathematics, to the major intellectual or developmental disabilities. The syndrome may affect your child’s ability to do activities like thinking, reasoning, and learning. Many people with Fragile X have attention disorders, hyperactivity, anxiety, and language-processing problems. Because of this, their IQ might not show its true capabilities as well as it would have otherwise.Many children with the full mutation of Fragile X are bothered by certain feels that include loud noises and bright lights. Some are also bothered by the way certain clothing feels as well. Most younger children with Fragile X don’t have any noticeable physical features of this syndrome until they start to go through puberty, where he will most likely begin to develop certain features that are more alike those with Fragile X. Some changes you may see include a large head, large ears, a narrow face, flexible joints, a large forehead, and flat feet. These physical features will become more obvious as your child ages. There is cure for Fragile X syndrome, but there are treatments that do help control the symptoms of the condition. I recommend you make sure your child receives above-average education, therapy services, and medications because then your child will have the best chance of using all of his individual capabilities and skills. It is very important that you focus on this disorder early because a young child’s brain is still forming at this age. Early intervention will give your child the greatest chance of developing a full range of skills. The sooner your child with Fragile X syndrome gets treatment (as listed above), the more room there is for learning. You are probably surprised and disappointed by this news, although that is normal. Many parents that have kids with Fragile X say that you soon start to truly loving your kid and watching him fight through the syndrome and sometimes even prove professionals wrong. I can almost guarantee you that any help your child requires will not destroy your relationship. However, if you would like any more information on what you are experiencing or questions about the disorder or what to do in certain situations, please refer to the links listed below or email me at the email listed below.mhardie2023@mountvernonschool.orgSincerely, Michael HardieGenetic Counselor