New Year - New Adventures

Connor loves wearing his fox hat!

It’s been a wild few months for our family.  The biggest news is, of course, that we are moving to the Chicago area.  I took a new call with the Evangelical Lutheran Church in America to serve as the Director of the Youth Gathering (www.elca.org/youthgathering).  I move to Illinois and begin this new job in a couple of weeks.  Brent and the kids will follow after the school year is done.  Such a rollercoaster of emotions as we say goodbye to people and ministry we’ve loved here and look forward to the new adventures that await us!  One of the most agonizing parts of making this decision was wondering how and if we would find a new day to day caregiver for Connor.  There’s no replacing Carrie, but is it possible that her clone lives in the Chicago suburbs?!?!  Brent and I finally decided to take the leap and trust that we will find someone to take care of our little guy.  As much as we try to believe that who we need will be provided, it continues to be worrisome and scary.

The newest development with Connor is that this week we began a feeding therapy program through West Chester University’s graduate school.  Every weekday for three weeks Connor goes for a feeding session to learn new skills and behaviors and hopefully cancel out a few of the bad ones.  After this “intensive phase” their therapist will do an in-home meal with Carrie and a meal with Brent each week to help make things stick.  I’m excited we finally have someone paying attention to his feeding issues and am trying to remain optimistic and hopeful about what they can do for Connor.

Vince and Connor after the concert

The fundraising concert was a success beyond our wildest imaginations!  Over $10,000 was raised for the Joubert Syndrome Foundation!!  We’re so thankful to Vince for all his efforts and for all of those who donated and came to the concert.

We had a lovely Christmas season.  Connor really enjoyed opening presents this year.  We knew he liked to pull the tissue paper out of gift bags, but didn’t expect him to enjoy ripping the paper as much as he did.  He did such a good job and stuck with it when his little fingers didn’t do what he wanted them to right away.

Opening a Christmas present!

Current prayer and happy thoughts requests include: for

 Connor to make continued progress with all his therapies, especially feeding and speech and for strength for our family as we prepare to live apart for the next few months.

In their Christmas jammies!

Connor is 3!!

Connor sitting with his legs in a bow!

It’s been a while since I’ve given an update on our little guy, so here it goes...

• Connor is 3 years old!  We celebrated with a little party with Brent’s family, Carrie’s family and some of his therapists.  He loved being the center of attention that night and tried a little bit of his cake.  As his birthday present, we took him and Clara to Sesame Place for the Halloween bash.  He loved the sights and sounds and even got to go on a few rides!
  
• His three year old pediatrician visit went very well.  He has gained 8 pounds and grown 3 inches since his last check up.  For the first time in his life he’s at the 50^th percentile for weight instead of hanging out at the low end of things. The doctor prescribed a few routine, annual Joubert Syndrome tests (blood work, renal ultrasound, GI check up) and recommended putting Connor on the little potty chair a few times a day.  I laughed, but she was serious about it so we’ll see how it goes!
  
• We said good-bye to the women we dubbed "Connor's Council of Ladies" - the four therapists who have journeyed with him and us for two and a half years.  There were many tears and hugs.  We hope to stay connected with them and share the awesome things Connor does in the months to come thanks to the strong foundation they helped to lay for him.  Thank you to Beth, Sandy, Deirdre and Katie!!
  
• Connor has taken great strides with his walking.  While he still needs maximum support, he is moving his feet independently and seems to understand that it’s a way to get from where he is to where he wants to be.  We practice a lot and he is fussing less and less about it.  So proud of him!
  
• Transition with the new line up of therapists is going ok.  We’re still getting used to each other and trying to figure out the schedule.   He has seven therapy appointments each week!  I’m also trying to get him into a feeding program and hoping the insurance company gives us the nod soon so we can keep working hard on that.
  
• This Sunday is the fundraising concert our church’s Director of Music (and Carrie’s husband!) is putting on.  He’s raising thousands of dollars for the Joubert Syndrome Foundation and we are so humbled and honored by his efforts.  We are looking forward to a fun afternoon with lots of good music and sharing about Joubert Syndrome.

Current prayer and happy thoughts requests include: for continued progression with standing, walking and feeding, positive outcomes for his blood work and ultrasound and for patience and wisdom for all his new therapists.

Connor was Rajah for Halloween and
Clara was Princess Jasmine

We visited the National Aviary and
Connor LOVED watching the penguins!

I Can't Believe I'm Still Doing This

There have been a few times recently that I've been doing something with Connor and caught myself thinking, “I can’t believe I’m still doing this with/for my almost 3 year old.”  You see, I hadn't planned on having a child with multiple disabilities. I don’t know that too many people do.  So there are lots of things that surprise, disappoint and confuse me.  I think it’s worth documenting some of those everyday tasks that I didn't think I would still be doing…

Washing and using bottles daily

Pureeing food

Spoon feeding my son

Using bumper pads on his crib

Having one sided conversations

Guarding him against face licking dogs

Fearing he’ll fall over and hurt himself while sitting

Laughing at the idea of starting potty training

Carrying him.  All. The. Time.

Looking for new toys or books in the infant/early toddler section

Speaking for him when people talk to him

Taking him to a private sitter

Making almost all choices for him

I could go on, but those are the highlights.  It’s amazing how different our routines and roles are with Connor than they were with Clara.  I know you’re never supposed to compare your kids, no matter the situation, but man...it’s hard sometimes not to remember back to when she was almost three and all the things she and we were either not doing or doing.

It’s my prayer every day that one day soon we’ll be able to take some of these things off the list.  One day soon.

Happy Connor - September 2014

Sad Connor - September 2014

Whirlwind Summer

It’s hard to believe that the school and program year begins again in just two short weeks.  It’s been a whirlwind of a summer.  I’ve been traveling a lot for work and it feels like (since getting home on Wednesday night from the latest trip) I’m just getting my feet on the ground for summer vacation.

The kids have also been travelers this summer.  They journeyed to North Dakota to spend two weeks with my mom.  Clara reported there were a lot of “stay in your pajamas days”, board game playing, play dates with Aunt Emily, dance parties, badminton and swinging in the back yard and way more fun than we’ll ever know!  My dad was up in ND for a gig and drove over to see us when I went to pick the kids up. I’m so thankful the kids got to spend time with my family over the summer.

Practicing on his Amtryke!

Other than that, Connor’s summer has been spent with Carrie, doing therapies and breaking in a few new teenage babysitters.  I’m trying not to get down about it, but we haven’t seen a breakthrough like I was hoping for this summer.  I REALLY wanted to see significant progress in feeding or communication, but there really hasn’t been any.  So we just keep plugging away and hoping that one of these days he will turn a corner.

One exciting milestone is that Connor can now sit up from lying on his back.  He can do it no problem if there is a little pillow behind him and has done it three times from the ground all the way up.  You can tell he’s very proud of himself!

He is starting to enjoy riding his Amtryke and is keeping his hands on the handlebars more.  Carrie took him to Vacation Bible School at our church and he was pushed up and down the hallway on his little bike.  I’m sure he was quite adorable!

Doing some standing in his new shoes that
go over his DAFO leg braces

We continue with the transition to the Intermediate Unit.  I found out last week that Connor was approved for services (shocking, I know).  Our first IEP meeting is in two weeks and we will make the plan of action then with our case manager.  None of our therapists will be able to continue on with Connor and I’m quite nervous about how he will handle this change.  The IU people are really encouraging us to put Connor in some kind of preschool.  While I would love for Connor to socialize with other kids, I think it would be too many changes at once to start him this fall and I don’t think his therapies would be most effective in a classroom setting.  We’ll see – maybe we can work out a happy medium where he would go a couple of half days each week.

Finally, for those of you who are local, we’d like to invite you to a fundraiser the Minister of Music at our church is doing for the Joubert Syndrome & Related Disorders Foundation.  Vince is performing a solo piano recital on Sunday, November 9 at 3:00 p.m. at Advent Lutheran Church in Harleysville, PA.  We’d love to have lots of folks there to hear Vince’s amazing music and donate to JSRDF!

Braces, Bites & Books

It’s been a while since I’ve done a regular update on Connor so here it goes…

Happy boy after lunch

Connor has been without a cold for two months now which has been great for moving forward with trying new foods.  He now can chew little pieces of bread with peanut butter, jelly, cream cheese and fluff on it as well as fruit bars, grilled cheese sandwich and the like.  It’s usually only a few pieces each meal, but he seems to enjoy the new flavors and textures.

We have added several new pieces of equipment and wearable gear in the last couple of months.  Connor has a new feeding chair to help him sit up straight when he eats, braces to straighten and stabilize his elbows (bonus of these is that he can’t put his hands in his mouth!), an AMTRYKE and most recently a dynamic movement suit that provides sensory input to most of his body so that he sits up straighter.  The suit needed a little adjusting so it should be in our possession in the next week or so.  The fitting was pretty brutal – it’s hard to get on and Connor did NOT like the process or wearing it once it was on.  He only has to wear it a few hours a day, so I’m hoping he gets used to it and doesn’t scream every time we have to use it. 

An augmentative communication specialist started with Connor this week. She is introducing a communication board that will help Connor tell us what he wants or needs.  I’m not sure how it will work to carry pictures around with us so he can point to something when it’s time for him to make a choice, but we’re willing to try anything for a little bit.

Looking through a scrapbook

Connor is starting to tire of his baby toys and wanting to do more involved and creative play like his toy piggy bank, Little People barn and animals and shape blocks.  He also loves the tablet Grammy, Pop Pop & Grandy got him and works on learning to point with various apps on that.  Reading is still his favorite activity. Lately he has loved looking through my scrapbooks, especially when Clara sits with him and points out the people he knows in the pictures.

We have begun the process of transitioning out of Early Intervention and into the Intermediate Unit when he turns three.  Connor will continue to receive services, but we’re not sure what kind or how often.   We’ll know more after the various evaluations that will happen this summer.  I’m so sad that none of his current therapists will be able to follow him.  I’m hopeful the next batch will be as wonderful as these women have been the last two years!

Pop Pop, Daddy & Connor on Father's Day

We’re looking forward to seeing what progress this summer will bring and, of course, lots of fun time in Miss Carrie’s kiddie pool, visiting our family and friends and a getaway to the beach!

Part of the 5%

I learned an interesting statistic recently – 95% of families that include a child with special needs are not a part of a faith community.  Brent and I have often joked about our lives frequently hitting the small percentage chances for good or ill, but this is one time I am quite thankful to be in the 5% category.

Our family is part of an amazing Christian congregation in Harleysville, PA.  Brent, Clara and I joined Advent

Advent Lutheran Church, Harleysville

Lutheran Church when she was just six months old.  It’s a group of people who take very seriously Jesus’ commandment to love and serve your neighbor.   There is a deep care and welcome for children and just a generally cheery sense about the congregation.  Some of our dearest friendships have been built through Advent and both Brent and I volunteer with youth and family ministries there.

It really wasn’t until Connor was born, though, that I realized how lucky we were to have this community of people.  Within hours of finding out Connor was in the NICU, someone from Advent organized a calendar to bring us meals.  For two or three weeks after he came home, a friendly visitor or two would show up almost nightly with a healthy, homemade meal.  We were humbled by their generosity.

And after we received Connor’s diagnosis we’ve had many prayers lifted up on our behalf for strength, patience and wisdom.  Prayers and well wishes for doctor visits and surgeries.  Offers of help to watch Clara while we were with Connor at some appointment.  Smiles and hugs, genuine questions of “How is Connor?”  “How are you?”  The way we’ve been supported by this community in little and big ways bring tears my eyes even now while writing about it.

Connor and the other kids in the Nursery Sunday School class

This past fall, Connor started Sunday School with other 2-3 year olds.  The teachers and helpers read Bible stories, do crafts and pray with the smallest of God’s children every week.  Without us even having to ask, the amazing coordinator of our Sunday School ministry made arrangements for a high school helper  to be in the classroom each Sunday morning to assist Connor.

Connor's Crayons

A few months ago, one of the teachers (another amazing volunteer) showed Brent this box – crayons that she had found or purchased and set aside for Connor because she thought he’d have an easier time gripping them and doing the coloring activities.  He told me about it with tears in his eyes.  He said all he was able to do was hug her.  I had to go see it for myself.  As I held this little box in my hands I felt this overwhelming peace.  Connor was going to be ok.  We were going to be ok. (starting to ugly cry at my computer now) There are a lot of people in this world who care deeply about him – not just family or close friends, but a much wider circle. 

I know I’m biased, but I truly wonder where else you would find this kind of community.   I ache for the other 95% who don’t know this feeling of being connected , welcomed and cared for like we are so blessed to experience.

Advent isn’t every church.  I know some churches do a horrible job of welcoming people.  So often I think congregations and the people in them just don’t know what to “do” with someone who has special or different needs.  They are afraid to do something wrong, afraid to ask a question that might offend.  While this may be true at Advent, we certainly haven’t felt it. 

So to our Advent family, especially to those who go the extra mile for Connor – thank you.  You bless our lives more than words on a screen could ever describe.  And please don’t talk to me about this blog post on Easter Sunday because I’ll start ugly crying then, too. :)

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.