Additional diagnosis of Jacobsen syndrome

[Arauch]

Almost a week about I went to meet up with my daughter's behavioral specialist to go over the blood work. This is when I discovered than not only does she have ADHD combination form, but she also has Jacobsen syndrome. I have gone through what little information there is available. It has left me more confused and worried.

If anyone knows some who has a child/relative that has been diagnosed with this. Can you please let me know the following:

1) How severe is the diagnosis

2) Are there any health issues, if so how severe

3) Are the in school, if so how are they doing and what did they do (IEP, modifications, special school, etc.)

4) Are they part of any group, if so where.

I am waiting to hear the severity on my own daughter. We have a very long road ahead of us, and a lot of doctors. I have joined two groups that I have found. Unique, and a group through 11q. Any information beyond what is on the internet will be helpful.

[anirush]

I have never heard of this what is it? Was this bloodwork genetic testing to figure out ADHD?

[Arauch in reply to anirush]

Jacobsen syndrome is also known as chromosome 11 deletion. We found out through a genetics test to see if there was more than ADHD combination form, since learning disabilities is in my family.

It's on a scale system. Some children have minor issues such as learning disabilities and no health issues. In the more extreme end there are severe health issues. Those on that end do not typically live past the age of two.

Since she is 5 and is only affected by some parts, we are hopeful that she is on the lesser end.

[rlh2018 in reply to Arauch]

Thank you for the information you have provided concerning Jacobsen syndrome. I have never heard of this health issue before. I also see that you mentioned you had a genetics test done to see about other health issues that could be occurring with your child. I would like to have my son tested to see if he has other things going on besides ADHD as well. How do I go about getting him tested like this? What kinds of information does the genetic test provide? Does it help ensure the doctors are using the right medicine with your child? What about the cost of the test? Is it expensive? I don't mean to throw out so many questions about this. I want to make sure my husband and I are doing everything we can for our son. Thanks.

[Arauch in reply to rlh2018]

I have taken my daughter to a pediatric behavioral specialist. Since there is a family history of autism and other learning disorders a test was recommended. I did not have to pay beyond the lab fee. It can help with providing medication. I had it done cause she was 4 at the time, and was hard to distinguish if she may have autism, odd, or dyslexia. It has been a very expensive endeavor having all the tests done. It has given me peace of mind though knowing she is primarily healthy.

Cardiologist, therapist, ultrasounds, stays, eye doctors, etc. We have been seeing, and she has OT and PT for all of this.

Most insurance companies won't allow it without prior authorization and medical necessity. Check with your insurance company.