Genetic Testing and What to Expect - Page 2

[gsmom]

Hugs to you mama.  You have a beautiful boy.  Waiting and wondering is the worst for me.  Dr. Google is dangerous ;-)

In the end your little dude will still be who he is, regardless of what diagnosis he may or may not get.  He is yours (the same as he was before all this worry and testing) and he is beautiful and he is exactly who he needs to be.   

I know the waiting and researching and wondering and worrying is unbearable.   There is so much grieving that happens when something goes awry.  Breathe deeply. Sending peace and light. 

[BethSLP]

just wanted to pop in here and say that your son is COMPLETELY ADORABLE.  seriously, he is a nugget <3

I'm a googler too.  I know I would be doing the same as you, but there is a wide range of possibilities for every child (even ones who share the same syndrome or diagnosis).

I remember when I worked in a hospital (I'm a speech pathologist), and consults would come over the computer to our dept.  This meant we needed to go to the patient's bedside to do an eval or something like that.  I'd read the history and list of diagnoses and think "jeez, this guy sounds like a MESS" and expect to find some old man half alive.  I'd walk in and he'd be chipper, alert, and welcome me to the room, etc.  The next consult would be a 50 yr old with 1 diagnosis.  something that seemed relatively minor.  I'd get there and the guy would be truly hanging on by a limb.  

Its the same in the schools.  Many parents I work with are so desperate to find a diagnosis, but when they get it, it still doesn't change the way we work with their little one.  We still look at what they can and can't do and what they can do with assistance slowly working toward making them more independent and moving from the "assistance column" to more "can do"s ;)  I still think its worthwhile to seek a diagnosis, simply because it gives more information as to the possibilities, but there are no certainties.

Seriously, everybody thinks their kid is cute.  But your son is a DOLL.  just had to tell ya ;)

XOXO

B

[Motivated Mama]

Your son is ADORABLE.

I am in limbo too. Our insurance did approve testing for the microarray for my son and we're waiting on the results. Another 2-3 weeks, so I'm here worrying with you. I am also master of the Google. When I first started looking for answers for him, I started worrying about FAS, thinking maybe 1 or 2 drinks that I MIGHT have had before finding out I was pregnant could have caused it. And then I came upon 22q. The geneticist doesn't jump at 22q, but thinks there are enough things going on that we should look into everything.

FWIW, he doesn't have many of the physical attributes of a chromosomal abnormality. But he is missing one kidney (originally a multicystic dysplastic kidney diagnosed prenatally), has had large motor develop problem, is having large and small motor problems, and has spd. He will be getting occupational therapy and today they're evaluating him for learning and behavioral problems. His sister had a CHD (coarctation of the aorta), corrected by surgery and I had a biological sister who died from an interrupted aortic arch. So if it is 22q, I fear that it is coming from my side which would mean I am asymptomatic (possible).

Anyway, I'm here with you

[leahthemom]

Thanks everyone~!  I'm so nervous, tomorrow is the big day.  I keep going back and forth between thinking that my son has a genetic disorder which is causing his delays and feeding difficulties, and thinking that it's all coincidental and that there's nothing genetic at all.  I can't wait to have concrete results.

On Thursday he was diagnosed with Failure to Thrive.  In six months he hasn't grown.  He hasn't gotten taller, and his weight is up by only a few ounces.  I wonder if his reflux has caused him to fear eating.  I wonder if his lack of nutrition is affecting his ability to learn.  Yesterday I had a phone call from the nurse at the genetics center.  She interviewed me for over an hour.  I hope that we get the answers we need.

What can I expect at my appointment tomorrow?

[Motivated Mama]

For DS, the geneticist did a comprehensive family tree (health issues), a thorough history of DS including the names, addresses, and phone numbers of all his doctors and therapists, and a physical examination of DS. She also spent some time explaining to DH the difference between a FISH test and the microarray (chip test) and why the microarray was better. I, of course, knew everything about the different types of testing from all my research

[leahthemom]

I've already done all that on the phone. I talked to the nurse for over an hour.  Did they do measurements or take blood?

[Motivated Mama]

Yes, they did both - measurements (height and weight, looked at his hands and feet) and took blood for the microarray.

[leahthemom]

Today was the big day. I went to Ames to see the doctors from the University of Iowa's genetics department. The doctor measured my son's eyes and said that the epicanthal folds are something that he might definitely grow out of. My son is still very babyish. His head is also small. He said that once his head starts growing, his features will change, and that will probably go away. He also examined his feet and hands. My son has Clinodactyly of the fingers and toes. That means that his pinkies curved inward. Most people with genetic disorders have Clinodactyly, but not everyone with Clinodactyly has a genetic disorder. He also said that his ears weren't small, and were posteriorly rotated. Another marker for genetic disorders. However, nothing really jumped out at him as a problem. He chalked it up to him being young, and small, and that a lot of these things didn't really concern him. He's still little. 3rd percentile. But, his proportions are correct. Everything measured just right as they should. He did suggest though that we should have him tested for Fragile X Syndrome. It's the most common cause of mental retardation, and affects 1-4000 boys. He said he wasn't convinced that's what my son might have, but would definitely like to rule it out. I told him that hey doesn't seem to have the Fragile X features, but he said that those usually don't start to show until around puberty. I opted not to have him tested for that- yet. We decided to wait another year, and see how things progress. If things aren't going well, we'll have the testing done. But, something tells me that he's going to be just fine. So, right now there's a paper in a folder that says "consider testing for Fragile X Syndrome DNA".

[idesofmarch1]

Congratulations on the appointment. It sounds like it went really well. My geneticist also recommended Fragile X testing for my daughter because of its prevalence rather than any suspicion. We did opt to test since we were not sure we were done having kids. The geneticist did explain that Fragile X is not usually a novel mutation, right? If you are thinking about having another child, you may want to consider testing. Many families have more than one Fragile X child because the symptoms can be subtle or non-existent in very young children. My geneticist actually feels every woman should be tested before having kids. The inheritance is a little complicated, but is explained here:http://www.nfxf.org/html/inheritance.htm. If you don't plan on having any other kids, it is not important.

[askew]

I am glad you had a good appointment and you feel a sense of relief. I find it a little curious that they did not run a basic chromosome test just to be sure. They did that to all babies with certain issues born into the NICU when my DD was born. Just to rule out genetic causes.  The thing is, even knowing wouldn't change what you do for your son, so I guess it isn't pressing and you can see how you feel next year. 

[Motivated Mama]

I'm glad it went well and some of your concerns were eased. We got the results of my son's genetic testing today and he's cleared of everything. I can say one thing for testing - it is such a RELIEF to know that everything is fine. I have absolutely no regrets and feel that we can finally move forward.

[leahthemom]

I really want to have another baby soon!  As I understand it, Fragile X is a cause of mental retardation. Even though my son cannot speak or even understand much yet, and tested low in certain areas having to do with mental skills, he walked early.  He has great problem solving abilities.  His motor skills are good. I just don't think that he has Fragile X.  He doesn't seem to have that much of an intellectual disability for me to come to that.  And, he said it was just to rule it out.

[Emmeline II]

Originally Posted by leahthemom 

I really want to have another baby soon!  As I understand it, Fragile X is a cause of mental retardation. Even though my son cannot speak or even understand much yet, and tested low in certain areas having to do with mental skills, he walked early.  He has great problem solving abilities.  His motor skills are good. I just don't think that he has Fragile X.  He doesn't seem to have that much of an intellectual disability for me to come to that.  And, he said it was just to rule it out.

There is such a wide wide range with Fragile X. Fragile X doesn't necessarily mean retardation; mental impairment can mean anything from a learning disability to ASD/Autism to retardation, and for some people the effects are so minor that they are never diagnosed. Males who are carriers, with only a premutation, generally have normal intelligence.

After reading on fragilex.org I'm wondering if we have this in our family. My mother had fertility issues (though she also had a thyroid condition), my nephew has a PDD-NOS diagnosis, and ds, though he developed in the normal range and does excellently in school, has significant behavior issues and some sensory issues--ugh, something to bring up with the developmental ped next week.

http://www.fragilex.org/html/new_family.htm

[idesofmarch1]

  I really want to have another baby soon!  As I understand it, Fragile X is a cause of mental retardation. Even though my son cannot speak or even understand much yet, and tested low in certain areas having to do with mental skills, he walked early.  He has great problem solving abilities.  His motor skills are good. I just don't think that he has Fragile X.  He doesn't seem to have that much of an intellectual disability for me to come to that.  And, he said it was just to rule it out.

 

I wasn't suggesting that it is at all likely that your son has Fragile X. The geneticist didn't think it was likely for our daughter either. It is, however, one of the only common genetic issues that has such a complicated inheritance pattern. We felt that we just wanted to rule it out since, unlike many other genetic mutations, we could have multiple affected children. We just felt that it is a lot easier to test now, than to start worrying when already pregnant and have to decide about prenatal genetic testing.