The CSPP1 Gene

Big news on the Joubert Syndrome front for our family – researchers have identified the gene causing Connor’s JS.  While it still has to be verified in a clinical lab, it looks like there is a mutation on the CSPP1 gene.  Here’s some medical jargon to explain a little about what this means…

“These genes make proteins that are often found near the primary cilium. The primary cilium is an antenna-like structure extending from most cells that allow cells to react to their environment. It is thought that these proteins may be required for docking of the cilium to the surface of the cell, as well as for transport of proteins into and out of the cilium. Mutations in these genes cause problems with the formation and function of the cilia. It is not entirely understood why and how the abnormal cilia cause the features seen in Joubert syndrome.”

“Most individuals with Joubert syndrome have two mutations in a gene known to cause Joubert syndrome. Usually one mutation is inherited from one parent (i.e., carrier of Joubert syndrome), and the other mutation is inherited from the other parent.

 Mutations in the X-linked OFD1 gene also cause Joubert syndrome. Males with one mutation in the OFD1 gene are affected with Joubert syndrome, while females with one mutation in the OFD1 gene are considered carriers of Joubert syndrome.”

Honestly – I don’t know what all of this means.  I’m still digesting it all, researching and reading and hoping to talk to his doctors once it’s clinically verified.  For now, these results don’t change much in our day to day life.  I’m hoping to get a “so what?” list from the researchers or doctors.  I hope they can tell me what symptoms or delays are related to this specific mutation and what we should be watching and testing for as Connor grows.  But from what I can gather there are only about 14 people whose JS is linked to this gene so far, so it’s not like they have a huge pool of people to draw information from.  Our JS parent page recently did a gene survey and only one other family had the CSPP1 gene mutation.

This result does at least give us something to test for when/if members of family want to have children.  It’s one of those things that’s just good to know…right?

Rosie snuggling with Connor

We have a new four-legged addition to our family.  Just to add a little excitement to our lives (ha ha ha), we decided to adopt a puppy from a local rescue.  She captured our hearts.  What actually sealed the deal was when Connor started fussing in the dog play room at the center and the puppy came over to him, started whining and then tried to crawl into his little lap.  

So Rosie is now a part of our family.  Connor loves her, even though she is starting to play a little too rough for his liking.  He really enjoys watching her chase the ball and rough house with Dharma, our 11 year old mini dachshund.  Clara is really the one who wanted a puppy.  She is delighted with Rosie and is doing an excellent job taking care of her.

Selfie with Connor and Rosie.  Note Rosie's
little tongue which is constantly trying to clean
Connor's face!

In other news, Connor has had a cold for three weeks and it has made feeding miserable again for the most part.  It’s quite wearying on us and I don’t want him to slip backwards in weight gain.

One little victory though in the midst of all the coughing, snot and gagging – he chewed little bites of sandwich for the first time!  He’s had peanut butter and jelly, PB and fluff and egg salad on super soft Wonder Bread.  On the days he’s not super snotty or congested, he enjoys it!  It’s fun to expand his food world and to know he’s not allergic to peanut butter or eggs.

Never a dull moment around here!

Bonus pic - Took Connor to the aquarium
for the first time and he LOVED it!  Especially
the shark tunnel!

Current requests for prayers and good thoughts – For Connor’s cold to go away, for feeding time to become pleasant and continue to move forward and for patience and wisdom as we learn more about the gene discovery.