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does anyone have this?
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does anyone have this?

Hi There I need to give you a little history first. I have this disease called NEUROFIBROMATOSIS. my now 6 year ols has the Cafe au lait marks like 6 or 7 of them but don't measure up. he has has a cardiac history. ASD, large VSD, pulmonary stenosis, pectus EX (not sure if he was born with it or if it is due to his surgery) he is only in the 20% for height and 30% for weight. he had to get PT because he was developmentally slow. he has large eyes, smart, and so on.
I took him to the genetics doctor looked his history over vry carefully then looked him over very very carefully talked with my 6 year old then said he thinks he has a disease called NEUROFIBROMATOSIS NOONANS SYNDROME. I must say he has many symptoms of it. he is being tested for Neurofibromatosis 1 at this point
my question is if he does have this what can I expect. he has already bben through a lot.
thanks
Michelle
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I also should add that for instance he can ride a bike with training wheels on in my house however bring it outside where there's dirt and stone and on the other side of our driveway is grass, he can't do it.  also in the cardiac issues he has a complete right bundle block. he starts out with running and keeping up with is classmates then aafter 45 seconds has to stop running due to fatigue. his pulmonologist says he has a sensitive heart meaning it doesn't take much for his HR to spike he has a implant to see if he is going into any arrhythmias or not he isn't however they have caught his HR over 260 before and as low as 40, he has been tested for thyroid as it does run in my family not with me though. it was negative. not sure if all of this means something. I have looked at some pictures of kids who have noonans and he looks so much like them,
I am nervous because of the unexpected. when we find out then I will be okay.
oh for those who are familiar with Neurofibromatosis, i have no tumors on the outside part of me they are all inside me and you can't see them. I don't think I got any until I was in my teens.
thanks you and I hope what I am saying makes sense
Michelle
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Avatar_dr_f_tn
Hi Michelle,
How is your son? Was there a genetic testing done?  I'm sorry to hear that your son has been through a lot. Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Defects in these four genes (KRAS, PTPN11, RAF1, SOS1) can cause Noonan syndrome.  Those with defects in the RAF1 gene tend to have a particular heart problem (hypertrophic cardiomyopathy).  It is an autosomal dominant condition that is inherited. There is no single treatment for Noonan syndrome and treatment focuses on the individual symptoms. The expected outcome depends on the extent and severity of symptoms but patients can lead normal lives. This link may be helpful: (The Noonan Syndrome Support Group, Inc) www.noonansyndrome.org
Take care and do keep us posted.


Possible Complications

    * Accumulation of fluid in tissues of body (lymphedema, cystic hygroma)
    * Failure to thrive in infants
    * Low self-esteem
    * Male infertility in those with both testes undescended
    * Problems with the structure of the heart
    * Short stature
    * Social difficulties related to physical problems

When to Contact a Medical Professional
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Thank yo for your help. yes right now I am waiting for his genetic results for NF 1 The waiting is hard and long but you just grin and bear it. I am not too hopeful for a positive test though.5% of NF 1 test are false negative. so I don't know why I am thinking this way he does have the CAL and me as the requirements.
I am not sure if they are gong to test for the noonans or not. his genetics doctor said one step at a time since he has already been through a lot.
can you tell me what type of doctors he will need to be followed by if he does have this neurofibromatosis-noonans syndrome? is there a special clinic for this like there are for NF.he has a pulmonologist and a cardiologist, and ENT for specialist. I am sure he would have to be followed by a neurologist for the NF.
I will let you know when results are in.
Thank yo again for your help
Michelle
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Avatar_dr_f_tn
Hi Michelle,
How is your son? I agree with his genetics doctor that this should not be rushed and should be taken slowly because he has been through a lot. It is difficult tot have a single specialist for this condition because it involves several parts of the body, Continue to have him monitored by his team of doctors.  You can also join support groups such as :  http://www.noonansyndrome.org/ . Take care and hope to hear from you soon. Best regards.
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