Thursday, 9 October 2014

Remembrance and Awareness Month!!

Girls, Girls, Girls ~ Mothers, Aunts, Sisters, Daughters, Granddaughters, Grandmothers and the list goes on......
Not everyone who is affected by IP will pass it on, the simplest way to explain here is that there is a 50/50 chance of doing so. There are also new cases (spontaneous mutations) that occur and we do not have all of the answers as to why. We also do not have all of the answers as to why it affects some more then others all within one family line nor do we completely understand why some of our IP girls have gone too soon, why their X that is not affected with IP could not help them sustain life.
The largest unknown is IP BOYS. Most families with IP have "male fatal type". A boy pregnancy with IP will either naturally abort, come into this world stillborn, or pass away shortly thereafter. Yet we have IP boys who have survived - HOW ? .... ? someday we hope to have all of the answers to that question, until then this is what we do know.
Males have only one X chromosome. If the IP gene on a male's only X chromosome is severely damaged, males cannot survive. A healthy version of the NEMO gene is apparently so critical to life that a nonfunctional version in males causes death before or shortly after birth. There are, however, several cases of males diagnosed with IP. These individuals typically manifest IP due to carrying an extra X chromosome (XXY) or to being mosaic for both XY and XX cells. These cases can be confirmed through testing for NEMO mutations. Some mutations in NEMO manifest in disorders in males that are different from IP. These males are often characterized as having ectodermal dysplasia and/or immune deficiencies. There is disagreement among researchers and clinicians as to whether these boys really have IP, or, do they have a similar disorder that closely resembles IP. Since we have been able to identify the gene, males can now be definitively diagnosed and it can be determined if they do indeed have IP. Early findings with the NEMO gene suggest that males with features of IP may have more subtle mutations that cause their symptoms.
and research for IP boys continues .... "Further investigations are focused on the uncommon male "survivors" with IP and related unusual phenotypes with immunodeficiency."
Male survivors with IP have been found to have one of the following
Klinefelters - XXY or 47,XXY
Mosaic - both XY and XX cells, NEMO mutations
Hypomorphic - retained partial function
October is IP awareness month... Spread the word... spread awareness!

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