Guess I will be the first to write under this topic and hope that I will meet some other "undiagnosed" parents.  My daughter, Campbell, turned 4 on Jan. 17.  She was born at 39 weeks and had a bilateral cleft lip and palate (undiagnosed prior to her birth - little did we know the "undiagnosed" part would become a constant).  At that time, the small hospital we were in ran some standard tests when a child is born with a midline anomaly.  Heart ultrasound, head xray and no abnomralities were found.  When Campbell was 3 weeks old she got RSV (respiratory synctival virus) and was admitted to the hospital.  She was hospitalized for 16 days.  10 days were in PICU and 5 days on a ventilator.  She also had aspiration pneumonia and was sent home with an ng tube.  While in the hospital, we had our first encounter with a geneticist.  She evaluated her (which I will have to share that horror story at a later date) and did some blood work.  She also had a skeletal survey, kidney ultrasound and an MRI.  When we went for our follow-up appointment, all tests were normal except her chromosome analysis.  She had a balanced chromosome translocation of chromosomes 5 & 8.  However, this chromosome abnormality isn't associated with any disorder.  At that time, the geneticist wanted my husband and I to be tested but insurance would not cover it.  So we went for some time thinking that maybe this translocation was the cause of her symptoms.  We switched geneticists and moved all of her care to Cincinnati Childrens Hospital.  At that time, Campbell was given a higher tech chromosome analysis and my husband and I both had blood work dones as well.  They found that my husband has the exact same balanced translocation that Campbell has and therefore, they are pretty certain that is not the cause of her symptoms.  They also found that she had a micro deletion on her X chromosome and yes, you guessed it - so do I!  So once again that does not explain her symtpoms.

Over time, Campbell was also diagnosed with hypotonia, cortical vision impairment, mild/moderate hearing loss, GERD, motility issues.  She also started having seizures around 13 months of age.  She has been monitored by multiple medical professionals and geneticists.  One geneticist who is a nationally recognized geneticist that specializes in craniofacial disorders scratched his head.  We have thought about enrolling in the NIH undiagnosed program. 

Campbell is our one of a kind and we love her so much.  She is a happy, beautiful 4 year old who loves music and to be outside.  We try to focus on treating the symptoms without becoming too obsessed with finding a diagnosis.  However, sometimes are easier to do that then others.  I look forward to hear from others who are in similar situations!

Michelle in KY

mom to Matthew (10) and Campbell (4)