Genetic Disorders/birth Defects/transplants Etc... What Is Your Story?

J.

I am a carrier of a very rare genetic condition call Menkes Disease. My first son died right after his first birthday. It is a copper deficiency. It has been very hard for me to accept that I am a carrier (though I did not know) as I have probably passed this to my girls. Girls are carriers, boys get it. I have 2 girls and 1 healthy son. The odds of getting it are 50/50 and 1 in 4 with a pregnancy. I am not sure this is what you meant, but thought I would share...

I wish you the very best with your little one. It is so hard to have a sick baby. My girls have more common issues (asthma, regular bronchitis etc) but nothing outside of those. Our son has a Heart Murmor, but it is mild, so it really is not a big deal. We have gone through hernia surgery with 2 of the kids, and our son has a cyst over his one eye that will need surgery to take care of. All mild compared to what you are dealing with and my heart goes out to you. Hang in there!!!!

J.
www.mygc.com/jfiegl

There is a ALAGILLE SYNDROME WEBSITE www.alagille.org that has a lot of information and a community bulletin board that might let you connect with other parents that have children with similar issues. You could pose a question--what do you wish you had known??? Good luck--also, once you see the specialists, they have suggestions for other parents you could connect with or support groups.

My son was born with a rare genetic syndrome. He is 13 years old. He has undergone four open-heart surgeries and countless "minor" procedures. In the beginning we were crazed with going to all the specialists. It seemed that everything he did needed to be diagnosed. Looking back I wished we had just enjoyed our son. We were so busy trying to label and get services for everything. Yes, being proactive is a good thing - but not at the expense of just enjoying your child.

my son was born with "floppy airways" and was in the hospital til he was two and half months old. he ended up having a trach. he had the trach for the first two years of his life and no trach but an open stoma for the next year and then closed the stoma.he went thru many ear infections and had to have tibed in his ears and his adnoids out. and when he turned seven he needed braces and a palette expander to fix his top jaw. and just before thanksgiving of this past year we found out that he has IGA which is a chronic kidney disease. other than all that my son is a noraml healthy seconder grader who loves history and asking questions.