More BIG News

Yesterday, Keir and I received news that we've been waiting for since January of 2004.  I took Conner to see a geneticist from Children's Hospital, hoping, once again to get some answers. Conner saw a geneticist at about 2 months old, and we found nothing - but our current pediatrician thought we should try again since technology has advanced quite a bit since then, and EVERY doctor we see truly believes Conner has a genetic condition - there are just too many things going on to be a coincidence.  Dr. Manchester told me that he is pretty sure Conner has Kabuki Syndrome, but that he wants to wait until the lab work is back before making an official diagnosis. Keir and I, of course, spent the evening, and late into the night reading everything we could about Kabuki Syndrome on the internet. After doing so, we are probably more convinced than the geneticist that this is indeed what Conner has. While reading the stories of the many families and children, Keir and I kept looking at each other with absolute amazement - if felt like we were reading our own story over and over.  Not to mention all the pictures of the children that felt like we were looking at pictures of Conner.  The similarities are AMAZING.  Since this is a very rare syndrome, with no definitive test yet for diagnosing, it is diagnosed by a geneticist according to the recognition of certain characteristics.  Conner has almost every characteristic: 

• long palpebral fissures/eye length (check)
  
• prominent/thick eyelashes (check)
• arched eyebrows with sparse outer half (check)
• prominent and misshapen ears (check)
• low set and/or rotated ears (check, check)
• frequent ear infections, usually requiring tubes (check, check)
• depressed nasal tip/flat nasal bridge (check, check)
• intellectual disability (check - although he is VERY smart, just has taken longer to learn things most kids pick up quickly on their own.)
• persistent finger fetal pads (check)
• Hypotonia/low muscle tone (check)
• Hyperextensible joints (check)
• Feeding difficulties, usually requiring g-tubes (check, check)
• Hearing impaired, usually requiring aides (check, check)
• Heart defects (check - Conner has a bicuspid aortic valve)
• Small mouth, very high arched palate (check, check)
• Missing/unusually shaped teeth (check)
• Sensory integration dysfunction (check)
• Flat feet, usually needing orthotics or braces (check, check)
• Undescended testicle (check - still need to have this surgery...) 
• Strabismus, usually requiring surgery (check, check)

The characteristics Conner does not have (knock on wood) are:

• Seizures
• Kidney anomalies
• Skeletal abnormalities (short 5th finger, scoliosis) 
• short stature (they think Conner even has this one, but I do not think he is short...he is supposedly in the 10% range for height for a five year old - but I won't get into what I think of those charts.)
• Rapid weight gain during puberty, sometimes causing obesity

After reading many stories of other children, I've been inspired to finish the journal of Conner's story - stay tuned, this may take a while.  Many stories we read spoke of the disappointment when first diagnosed.  We do not have this.  After over FIVE YEARS of wondering WHY, WHY, WHY, we finally have answers, and know what is going on with sweet Conner.

   

During our research last night, we came across a Dr. studying the syndrome, who is trying to identify the genetic etiology, and is looking for participants in his research.  Guess where he is? Yep, Boston!  Coincidence??