I'm a Mom and need help please?

[anonymous]

Long story short, I can't wait the two weeks for the gene test to come back.

Long story:
I have an 11 year old son, Steven. Steven has autism. He has also had cronic GI problems, mostly reflux and IBS. He speaks very few words. He seems to get what we thought was the stomach flu quite often--throwing up, etc. It always goes away in a couple of days. We have been very careful to keep him checked by the doctor.

Last week, Steven seemed to have the flu, but worse. I took him to his pediatrician and we both thought appendix, since Steven is not able to tell us just where it hurts except "belly". We took him into Mass General and they did every test possible. Just by chance, his pancreas showed up on the CT scan for his appendix and they learned that Steven had pancreatitis. He was very ill, vomiting very thick and clear and sometimes blood every hour. It was very scary. He was on IV for 5 days and now on a very low fat diet. He seems to feel much better, but his amylase and lipase levels are higher than when he went into the hospital. They dropped slightly while he was on the IV.

The plan at this point is to see the GI doc in a week and wait for the gene testing. There is also a chance that a medication that he had been taking-Depakote-could have caused the pancreatitis. In the meantime, I am a wreck worrying about what it could be. I really have not had much time to really understand about CF, just a quick sweep by your website and CFF website. This morning, the doctors office called and said that the gene testing people wanted to know our ethnic background. Well, both my husband and I have a very diverse background! We asked what in particular they were looking for and they said Portugese and American Indian. I some Portugese and we think that my husband has very little, but some American Indian.

I want to thank you for letting me post without signing up, etc., as most boards do. My name is Lu-Ann. Any information/suggestions will be very helpful. I don't scare easily,so don't worry about what you post. Thank you again. <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Mockingbird]

Wow, that's a lot to go through. The GI problems are common with CF, but I think the pancreatitis is more likely caused by the medication... at least, it's not all that common in children. There's another, age-old test you can try; Taste your child and see if he's saltier than normal. Cfers have a problem processing salt, or something. i'm not gonna go into the specifics, but basically we end up with salty skin, especially after sweating. It's not as foolproof as the gene test, (Which isn't entirely fool-proof itself), but it may help to ease your mind. Another thing I just thought of; are they doing a sweat test? if not, you should request it. Your child may have an unidentified gene mutation, which could get missed by the gene test. I've heard of that happening, anyway. Good luck.

Jarod
23 w/cf

 

[anonymous]

Actually, while not real common, pancreatitis can and does occur in children with CF. I do agree with Jared, though. Request a sweat chloride test. YOu can usually have those results back within 1-2 days at most. Does your ds have any lung involvement?

 

[anonymous]

Thank you so much for the help. I did taste his skin and then mine and my daughters. His skin was not really salty, but had a more sodium kind of a taste, does that make sense? Mine and my daughters just tasted bland. I will ask for the sweat test though as it would be good to have some information sooner than two weeks.

As far as his lungs, he did have fluid in his lungs in the hospital. He was doing better after a few days. They told me that the lungs and pancreas go together. Please pardon me if I sound like I don't know what I am talking about. I stayed at the hospital and have had very little sleep. I have spent the last 8 years learning about autism and I have had to be an advocate for my son all the way. Now having to think about something else is very difficult for me. My little boy has a poor quality of life as it is. Can you give me an idea of what kinds of things he will go through if indeed he does have CF?

Thank you for your patience and kindness in answering my questions.

 

[Mockingbird]

What he'll have to go through with CF.... That's a difficult one. I'm not sure what role autism will play in it. As for the physical symptoms, there's of course the GI problems, but digestive enzymes will help out a lot, I'm sure. Although it's true lung problems are common, there are a few people who's lungs are fine. As for the rest of us, we have a horrible sounding cough all the time and frequently spit out green gunky stuff. Sometimes blood, too, but for CF, coughing up blood usually isn't anything serious. Its getting infections that we have to be careful about. Since the mucus in our lungs is all thick like that, it gives all sorts of bacterias and funguses a chance to breed, which is never a good thing. And then there's sinusitis and nasal polyps that can spring up. Oh yeah, something else you would have to watch out for is diabetes, which is common with CF.

There are many, many other things as well; not really too common, especially in children, but they are related to CFand so they're always a possibility... like pancreatitis, but you knew that already. Other things are liver problems, arthritis, osteoperosis, and things like that. It all sounds rather grim, I know, but its not, really. What I mean is we've all found a way to live with it... I guess what I'm trying to do is end this message on a positive note. =-) You can see right on this very site people who are living into their forties and fifties, leading normal lives... I just want to assure you even if it turns out your son does have CF, there's still lots of hope. Although, I kind of get the sense you already knew that. =-) Take care and I hope all goes well.

Jarod
23 w/cf

 

[Mockingbird]

Oh, right, and one more thing; get some sleep! =-) Easier said than done, I know, especially at a time like this. What I mean is I hope you can sleep better. Sleep deprivation stinks, and you've got enough to deal with as it is. =-)

 

[anonymous]

Jarod, your words are so comforting to me. The unknown can be so frightening. I just don't have the time right now to delve into CF. The same was true when I first learned Steven had autism--I needed to know he would be ok first, then I learned little by little. Now I consider myself an expert! LOL! Not something I ever wanted to be an expert about, as I am sure you feel about CF. Perhaps, even if it turns out that Steven does not have CF, it was meant for me to learn about it and educate others about it. It seems that some diseases get so much "press" and others do not. It is only the past couple of years that autism is in the forefront, before that, most of us were on our own. I will let you know how the tests turn out.

Thanks again for your encouragement. I wish you blessings and good health!

 

[anonymous]

I can relate to your situation. My daughter was born with several problems. She is mentally retarded, non verbal, autistic characteristics, seizure disorder, has a rare syndrome, Mowat Wilson Syndrome and she is the sweetest angel you ever met. Anyway she is now 15 and at 10 years old she was sick and they decided to test for CF, sweat test. They called me that evening and she was positive and I went into denial, cried alot, and requested another test. How could she have alllll this??? Next day same, positive. It was difficult, very difficult at first and it gets better with time. We are blessed that her CF is mild for now.
Also, her gene testing only showed one mutation L997F, rare mutation, and no other mutation. ( you need 2 mutations to have CF) This means that her other mutation is unknown at this time.
I strongly recommend a sweat test to give you peace of mind. It is an easy test and the results are quick at least here in NY they are.
God Bless and let us know how it all goes for you. Joan