More info on her Chromosome 8 Deletion

After I begged for help, many of you forwarded this website, asked friends and family and kept the word going.

THANK YOU!!!

A friend of mine sent it to a friend of his who is in genetics. Some of this email makes my head spin, because I don't quite understand it, but some of it makes me understand my girl more.

Will,

I would definitely ask for a referral from one of Lilah's physicians to see a geneticist at Emory. Lilah's mother's feelings about this situation are completely warranted and normal. Genetics referrals can take time as well because there are not many geneticists in the state of Georgia. I don't know how much Lilah's mom understands about her test results, but basically Lilah is missing a section of chromosome 8 in everyone of her cells. The test is called a chromosome microarray test, and its purpose is to identify extra or missing pieces of chromosome. Chromosomes have two arms called "p" and "q" and the "q" in 8q21.11 tells us that the deleted section is missing from the q arm of chromosome 8. The numbers following the "q" in the description of the missing section of chromosome 8 describe the section's location on chromosome 8, similar to a map. I have personally seen multiple children in the pediatric genetics clinic in Arkansas who have had the chromosome microarray test. Sometimes this test allows geneticists to give a name to a condition and other times all we know is what genetic material is missing. Lilah's case seems to be the later, or in other words there are probably few, if any, individuals with the same exact deletion as Lilah. I did a quick search of the national medical database, and came up with multiple similar case reports but nothing that was exactly the same as her deletion. The geneticist at Emory could help make sure that Lilah gets all the appropriate care she requires, and will continue to follow up with her. Hope this helps.

Jacob

So, we do not have specific answers, but as I have guessed, and sometimes worried about.... it looks like Lilah is the first case documented.

I mentioned this to Dr. Sutherland, the cardiologist in Atlanta, and he said what Joey, Lilah's GaPines rep says too...Lilah may be the first case, but because I am putting all the information out there, I will help pave the way for other families who encounter this deletion. Not exactly what I had hoped for Lilah, but I suppose this is the path God has chosen for my very outgoing, outspoken, loud, tell-it-like-it-is self. Maybe God really is using me and Lilah in more ways than we could ever imagine.

Thank you for helping me...ALL of you. I will not quit. I will not give up. I will continue to fight, and fight, and fight...because that is who I am...I am Lilah's Mama.