Genetics Doctor Questions "WHat should I ask?"

Soledad - posted on 02/02/2010 ( 8 moms have responded )

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So I have an appointment set for this Thursday the 4th. I am suppose to bring a list of questions and I'm not sure where to start. I was told over the phone Lily has Angelman Syndrome and the appointment is for me to walk in and be told about this. Any suggestion or questions you think I should ask. Please help. Thanks so much!!!

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Alexa - posted on 02/05/2010

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Sol, keep your head up! I know exactly how you feel. Every time any of Gabriel's doctors ask me how I'm doing, I choke up and it takes all the strength in me not to cry. But, most times I do cry! And you are right, we all do have each other now! Thanks for updating us! =]

Soledad - posted on 02/05/2010

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The appointment was a here's what angelman's is kind of thing. I was told over the phone on January 7th so they gave me a bunch of articles and info mainly printed from the angelman.org website. I did ffind out Lily has the deletion and they are going to set me up with the various therapies that she will need at the hospital near me. I asked the questions and there is no angelman support group just children with disabilities so i might try that out. I hadn't cried about her having angelman's until the genetics doctor asked me how I was doing and it was like the flood gates opened. I just wanted so much for my daughter and now there will just be a different set of goals and I will cherish every milestone she meets. Thank you ladies. I am so happy we have eachother here.

Christy - posted on 02/03/2010

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There is no such thing as a stupid question. We've all been through it or are going to go through it! You're never alone beautiful!!

Soledad - posted on 02/03/2010

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Ok thanks ladies for your comments...I will let you know how it goes. I just feel lately like my mind can't think straight sometimes and I am really at a loss because I feel like there would just be a neverending amount of questions to ask right? LOL. I will update after the appt. Thanks again!

Stephanie - posted on 02/03/2010

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It seems we are all agree, geneticists are for diagnosing. After that you primary care physician and any therapist you already have are the ones to direct your questions to pertaining development, nutrition, any any other mediacal needs your child my have. Your PC should be able to put you in touch with any type of provider or program that you need. If not and you PC doesn't seem real helpful, its ok to find another one who will help and listen to your concerns regarding anything. You know your child better than anyone else so anyone who sees your child should take what you say and make it important.

Alexa - posted on 02/03/2010

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My geneticist wasn't very helpful to me at all. He basically told us what Angelman was and what to sort of expect. I don't have anything helpful you can ask, unless there is any pending important issue you have questions about and how it relates to Angelmans. For example, my son has a very low weight and it continues to be a problem, so I asked about that and what could be done to help him have a healthier weight. Good luck and keep us posted on the appointment!

Christy - posted on 02/02/2010

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Ask them where/who you can go to for therapy, what equipment may help, how to go about it. Ask if there's any groups in the area you can join.
Sorry I can't think about questions right now.
If you need a ear, Steph or myself are hear to listen. You are never alone!!!

Stephanie - posted on 02/02/2010

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Some parents like to know the origin of Angelman's in their kids. Such as deletion or mutation, both these require more blood work. It can be useful but isn't necessary. With a mutation, the angel will have a better developmental prognosis, however, having a mutation is very uncommon.

I asked for copies of all clinical notes and lab reports, just for my own records. When fighting an insurance company it helps to have extra copies, also if you child has a bunch of doctors, keeping your own copy of medical papers can make things easier when asked question.

If your child has a "flat" part of the head, then ask if there is any medical need for correction, most often there isn't unless some how its effecting the brain and the only way to tell that is an MRI, which a genetitis probably won't order unless there is obvious concern. And it will be less noticable when her hair grows out. Microcephaly is a common "symptom" of Angelman's, and it just means having a small head, it doesn't normally effect the brain. My daughter has microcephaly and it doesn't effect her brain. Other than that I can't think of anything, after getting a diagnosis other specialist take over the care and treatments. Hope this was helpful.

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