no one has answers

My 16 year old son has had a lot of health problems through out his life.  At 6mos of age he was diagnosed with Cystic Fibrosis, he has had many surgeries, he had to have a bowel resection, fundoplycation, feeding tube placed, and so on.  He was diagnosed with CF related diabetes two years ago as well.  In January he had started a study drug, he had had 4 doses of the med.  One day he was out snowboarding when he called me at work saying he couldnt move his muscles were knotting up bad and he was having tremendous pain.  I went to pick him up and I took him immediately to the E.R. afraid he was having a reaction to the study drug.  When his lab work came back it showed that his CK levels were elevated.  So he was admitted and put on maintainence fluids for a couple of days and then was discharged.  We went to a muscle specialist and he did some tests, we did a EMG and he was unable to finish the test due to the amount of pain, but the results that we did get showed that there was nothing to be alarmed about.  So then he was just told to continue on with light activity and he of course was taken off the study drug.  Well then in April he had a bad lung infection so  he was put on steroids for 10 days and while he was on the steroids we noticed (with freq. lab work) that his CK levels were going down.  We tapered him off of his steroids, the day he was done with his steroids his CK levels shot up to 46,000, he went into myopathy, his liver and kidneys started failing, he was short of breath and he went down hill quick.  I took him to the E.R. asap and they admitted him in to Peds ICU.  While he was there he had a muscle biopsy done and he was put back on high doses of steroids and sodium bicarb, plus his lung maintainence antibiotics.  Two weeks later he came home but he has to stay on the steroids to keep him stable.  But as you know long term use of steroids is not the answer and he is building up a resistance to them.  He is now back in the hospital severly sick, coughing up blood, elevated CKs, shortness of breath, severe lung infection, high fever 103.4, myopathy, the list goes on.  It has been 3 mos. since his biopsy, it was sent to Stanford and they couldnt figure out what was wrong so then they sent it to Bailer in Texas and the report that his doctor got back was that there was something definitely wrong, they just dont know what.  He has all sorts of "specialists" scratching their heads trying to figure out what is wrong with him, but no one has any answers.  His CF doctor just keeps saying well he is definitely one of a kind.  Well what kind of answer is that????  I am so frustrated I want to know what is wrong, he keeps getting worse as time goes on, I am scared I am going to lose him if we dont get this figured out soon.  If anyone has any suggestions please let me know.  Thank you!

[Dragon1973]

Hello Mandie1974,

I am sorry about the late delay in getting to you, and also for the difficulties you are going through with getting answers for your son.  I know first hand how difficult and very stressful it is to try and get a proper diagnosis and yet have doctors not know what the heck is going on.
Have you had any genetic testing done, aside from the diagnosis of CF?  Is there anything in your family, genetic wise that may be responsible, or at the least, has ANY one at all in either sides of your family had issues like these, even minor amounts?  It sounds like you have had everything under the sun done, but often times many doctors do not think outside the box, or look for things that are UNcommonly diagnosed.  I often watch Mystery Diagnosis, and I know first hand what it feels like to have a problem go on and on, that remains undiagnosed.  I myself only got a diagnosis (personally) of having a Pituitary Tumour, called a Prolactinoma, which was causing me a whole host of symptoms that no one doctor could figure out until I was 30 years old.  I am currently having some other genetic testing done (I was just referred to a Geneticist for myself, although we had seen one before because my son has Down syndrome) for another possible Genetic Mutation that I may have, that otherwise would have gone undiagnosed also, because it is a specific genetic test that has to be done, and like a catch 22, if you don't know what you are looking for, it wont be tested.  It's like saying, if you want the test done, you need to tell us which test you want us to test for.... Seems kind of crazy, but they don't do mass testing for all the genetic abnormalities, since there are hundreds of thousands of genetic problems, and ones that have yet to be discovered or named.  Some are so rare, no one would think to test for them.
I know my comments aren't likely to be helpful, but I thought I would share with you that you are not alone.  I do also hope that something will be done, fast and hopefully treatable soon, so that your son will be able to thrive and be well again.
If ever you need someone to talk to, please know I am always available, and just a message away,
If you can, please update us also if you make any head way.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[margypops]

Goodness I am so sorry, you would think someone would be a House' and come up with something ...so it could be treated .. what can I say .I know anything I suggest will sound trivial , is he severely allergic to anything , is there any possiblility he could be ingesting any toxins ...What meds does he take on a regular basis , I do know many have side effects , many interact with each other .Is he still taking high' doses of steroids ? Does he eat okay , is he at school, got friends , family life okay ...I hope you find some answers for him, good luck

[mandie1974]

Thank you for your response unfortunately we have looked at all those suggestions.  He is on a lot of medications and we have researched them all to see if they have any kind of interaction with each other or the study drug he was on and there shouldnt have been any reason for a drug interaction.  He eats very well, he eats me out of house and home, little stinker.  He has tons of friends, even though he is home schooled, he has a very active social life.  So the doctors are just really grasping at straws, now they just told me today that it is probably an inflamatory disorder but who knows, I think they are like I said grasping at straws.  But anyway thank you again for your response and you take care.

[Dragon1973]

Hello Mandie1974,

I am sorry about the late delay in getting to you, and also for the difficulties you are going through with getting answers for your son.  I know first hand how difficult and very stressful it is to try and get a proper diagnosis and yet have doctors not know what the heck is going on.
Have you had any genetic testing done, aside from the diagnosis of CF?  Is there anything in your family, genetic wise that may be responsible, or at the least, has ANY one at all in either sides of your family had issues like these, even minor amounts?  It sounds like you have had everything under the sun done, but often times many doctors do not think outside the box, or look for things that are UNcommonly diagnosed.  I often watch Mystery Diagnosis, and I know first hand what it feels like to have a problem go on and on, that remains undiagnosed.  I myself only got a diagnosis (personally) of having a Pituitary Tumour, called a Prolactinoma, which was causing me a whole host of symptoms that no one doctor could figure out until I was 30 years old.  I am currently having some other genetic testing done (I was just referred to a Geneticist for myself, although we had seen one before because my son has Down syndrome) for another possible Genetic Mutation that I may have, that otherwise would have gone undiagnosed also, because it is a specific genetic test that has to be done, and like a catch 22, if you don't know what you are looking for, it wont be tested.  It's like saying, if you want the test done, you need to tell us which test you want us to test for.... Seems kind of crazy, but they don't do mass testing for all the genetic abnormalities, since there are hundreds of thousands of genetic problems, and ones that have yet to be discovered or named.  Some are so rare, no one would think to test for them.
I know my comments aren't likely to be helpful, but I thought I would share with you that you are not alone.  I do also hope that something will be done, fast and hopefully treatable soon, so that your son will be able to thrive and be well again.
If ever you need someone to talk to, please know I am always available, and just a message away,
If you can, please update us also if you make any head way.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[mandie1974]

Thank you very much for your comment.  I talked to a new doctor today that specializes in muscle disorders and he was telling us that he thinks that it may be a fatty acid oxidization disorder.  Which this is not cooperating with his Cystic Fibrosis, they are pretty much fighting eachother, a vicious cycle.  So this new doctor, he is going to call Stanford and Bailer to see if they have any more of his muscle left from his biopsy to test for it.  If not then he will have to have another biopsy done.  They are also going to do another genetics test as well.  He is still in the hospital and we are just getting through by taking one day at a time.  Thank you again, I love suggestions and hearing peoples opinions they really do help.  Take care!
Sincerely
Amanda (mandie1974)