Hi, I'm just wondering if anyone out there with IP or an IP affected child has family members without IP whom have IP related symptoms? My daughter has IP and is considered a spontaneous mutation as there is no one else who has ever had it that we know of in the family. But, on my mom's side there are lots of issues with females having severely thinning hair, big space between front teeth and one cousin with lots of missing teeth; strabismus, near-sightedness and lazy eye, and immune deficiencies. I know that many of these problems occur frequently in the general population and also that these are relatively minor IP problems compared with the more severe ones. However my son recently developed Erythema Multiforme as a result of an antibiotic, we suspect. I have never heard of this in realtion to IP however it is a skin and immune system problem. Also, my dad developed Pyoderma Gangrenosum when ill with heart disease and colon cancer and my sister survived a terrible bout of Necrotizing Faciitis which her Drs. think maybe had the Pyoderma G. involvement when they learned later of my father having it. Both of these very serious illnesses are skin and immune related. Hard to believe that we've had so many serious and rare conditions in my close family. Now my little great nephew is undergoing a lot of testing because he has one infection after another with fever, usually nothing specific, but he has had lots of ear infections, mono, gastric reflux and is generally more sick than not. He is not yet 2. He doesn't seem to ever shake an infection before he gets another. He goes to a babysitter with only one other child. He is otherwise strong, happy and right on target developmentally. He's being seen at Mass. General so I have faith they will figure it out and maybe he's just having a bad year or so. But, it all just seems too much. So my question is: Does anyone know of other families going through similar symptoms or illnesses that may have a relationship to IP but are not diagnosed as such and is there any research ongoing that could shed some light on this? Could we maybe have a lot of carriers in the family? Any thoughts are appreciated. Thanks,
To answer the questions about the males in your family, keep in mind that IP is 99% male lethal, so it would be extremely rare if any male members of your family have IP. As for being a spontaneous mutation, if you are not sure the best way to determine it is for the members of your family and especially your daughter to have a gene test. For IP the best place to have this done is Baylor College of Medicine in Houston Texas. One need not go there, just send a blood sample, but of course you must first contact them. Either call them yourself, or have your physician do it for you, as the blood has to be drawn by a professional in any case. Tel: 800 411-4363 or www.bcmgeneticlabs.org
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