My 3 yr. old son just had a Medical Diagnostic with a diagnosis of Expressive Language Delay, Sensory Regulatory Difficulties and Disruptive Behavior Disorder. Last year they diagnosed him with Mild Developmental Delays and Sensory Integration (SPD). This year they added Disruptive Behavior (he just didn't want to cooperate for a few minutes). They recommended a test for Fragile X and High Resolution Chromosome Karyotype. I'm not sure how important it is to take these tests when there's no cure for Fragile X. It'll just show that his delays were inherited genetically from what I understand. So I'm not sure if I should put him through the tests. Does anyone know more about this or tell me how important this is to do? Thank you so much I appreciate your help. Bernie
Thank you for your advise, I made an appointment for this Saturday to get the tests done. I agree with you that it is better to know than to not know or guess what is really the problem/cause. With that knowledge I will be able to get my child the proper help he needs. I must add it was a relief making that decision but I'm also very optimistic they will be negative. Thank you for your help. Big hug, Bernie
EDIT: Just got the results of all the tests and yipee they are normal.
I do think it's important to find the source of your son's issues so that you are well armed with all the information to best help your little one. There are advances in treatment and therapy every day so it's best to know exactly what your dealing with to get him the best help! Just my opinion of course. I do wish you and your son the best!
It is extreemly important to have the tests. They are blood tests, and you will need genetic counseling for your entire family if your son is positive for fragile X, especially if you have other children or brothers and sisters for thier futures. As for your son's future, if you have a genetic diagnostic you will never be arguing with a school official that your son needs help. Trust me, you will be arguing enough to get him what he needs without having to argue that it is all your fault because you are just a bad parent that he needs special education and targeted interventions, which will be the first line of gate keeping.
There will also be a sense of good prognois. It may not be the prognosis you want, but you will be looking for different aspects for him to progress toward if he has fragile X than if he has a developmental delay with a less predictable prognosis.
Finally, children with Fagile X have a finite set of symptoms but a huge and welcoming support family that you will atomatically find comfort in if your son is diagnosed. You will draw great insight and learn more than you could otherwise about the resources avalaible to your family. You will also know many families that have boys with fragile X, and he will have a true peer group. You have so much more to gain than you can even conceptualize now at age 3. He will never remember this blood test, but he will not forget the knowldge and the insight you gain.
M.
From a therapy/school standpoint it can be helpful to have a definitive diagnosis when getting the services/IEP/therapy he needs.
http://www.fragilex.org/html/benefits.htm
check out this site- if he does have fragile x syndrome you will likely find a support group beneficial and helpful in alleviating a lot of worry and stress. Not to mention it can help offer different perspectives and people who may have more experience than you in dealing with this and can help you avoid potential pitfalls.
I do think it is important to find out the 'root' of the problem. It may open doors to therapy and other resources. You will want to find parents who have children like your son so they can be a resourse and a support system for you. The one thing I know from my own personal experience is that the earlier you have him in therapy, the better the outcome will be for him and your whole family.
Good luck..this probably won't be an easy road to travel but with perservance and love you can do this.
My son was diagnosed with Aspergers 5 years ago and it was suggested to test for Fragile X (we did and it was negative). I think it's just always better to know exactly what you are dealing with, even if it doesn't necessarily change your treatment options right now. Who knows, in the future there may be a new treatment or cure for many different delays and you'll need to know exactly what he has to get the right treatment.
Of course if you plan to have more children it may be beneficial to know as well.
Good luck,
K.
I understand not wanting to go through some of this if there is no cure, however, it is important to know what to understand and expect of your child. As well, you will want to share this genetic information with him when he is of age to make babies of his own, out of fairness. Are you done having babies? Do you know what the chances of this happening to a future child of yours? I would have it done.
