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.

Little Four Eyes

Very cute in his new glasses!

The most noticeable change in little man’s life are his eyeglasses.  A few weeks ago his ophthalmologist said that Connor’s vision in his left eye was still quite a bit worse than his right and had not “caught up” as we had hoped.  Honestly, even without Joubert Syndrome, he would probably be destined to wear glasses at some point as my vision isn't the greatest.  And so Connor now has these nifty little glasses which he wears all day, every day and also an eye patch which is only for two hours each day.  The combination of the two is really quite the look!  He’s tolerating both ok.  He has learned how to pull his glasses down and off his face, but only does that a few times a day.

A patch and the glasses at the same time are
a bit much, but he's still smiling!

We finally got into the Neuro-Genetics clinic at CHOP after waiting since September for an appointment.  It was mostly a frustrating appointment for me – three and a half hours, four specialist, answering the same questions over and over, hearing about how far Connor still has to go, hearing about all the things that would be good for him in his development that we just don’t have the capacity to do right now.  All the other doctors and therapists have been with us almost since Connor’s diagnosis, so when I visit with them they see the progress.  This was the first time these folks had seen Connor so it felt like all they could see were the delays.  Hard, frustrating truths spoken.  Connor and I left CHOP that afternoon with a list of new recommendations for equipment, tests and therapies and tears in our eyes.  We were both tired – tired of so much.

Making a big, fun mess with bananas

Feeding has gotten a little better in the last few weeks.  We now offer Connor choices at meals – he can have a spoonful of puree or a puff (those little dissolvable cheese doodle like foods).  It seems that most of his tantrums were just a way of exerting control.  Which makes sense to me – eating is really the only thing Connor has control over.  He can open his mouth if he wants.  He can’t decide which toy to play with, what to wear, where to go or so many other things.  So he demonstrated his need for decision making through being a punk at meal time.  Hopefully this choices thing will continue to be enough to soothe him for a while.

Connor also continues to show interest from time to time in self feeding.  Today he had a delightful time playing in mashed bananas and then putting his gooey fingers in his mouth or his hair or his eye. :)  He also picked up the spoon several times and moved it towards his mouth.  Poor little buddy knows where that spoon is supposed to go, but his muscles just won’t coordinate enough to get it there right now!

Waiting for the dentist to come in!

And finally, another first for Connor today – his first visit to the dentist!  I was probably crazy to try it with this wiggly worm, but he still likes to brush his teeth so I thought he might not mind the dentist.  He did pretty well.  He let the hygienist brush with little resistance.  He wasn’t too crazy about the metal objects going into his mouth, but suffered through that for enough seconds for the dentist to declare his mouthful of teeth look good.


This last month has been super busy and crazy and quite frustrating at times.  It makes me think of one of my favorite movies “Silver Linings Playbook” and a great quote from there – “Excelsior.  Excelsior… It means you know what I'm gonna do, I'm gonna take all this negativity and use it as fuel and I'm gonna find a silver lining, that's what I'm gonna do. And that's no bulls**. That's no bulls***. That takes work and that's the truth.”  Cheers to the silver lining!

Farina Face

Getting messy feeding himself

We had a fun and unexpected break through this week. Connor showed interest and a little ability to feed himself!  It started with him sticking his hand in the bowl of Farina (kind of like grits) I was trying to feed him and then he licked his fingers with a little encouragement from me.  He did this several times and was quite pleased with the results!  His movements were a little jerky and his aim often off, so quite a bit of the stuff got on his face but he managed to get some of it in his mouth.  The next day at Carrie’s house he picked up the biter biscuit, put it to his mouth and licked it several times.  He’s also into holding the spoon himself for a few bites during meals.  Usually just three or four times and he’s had his fill, but he always smiles a big grin when he holds the spoon with me and we guide it to his mouth. Not sure where this little development will lead, but it’s exciting that he’s taking interest in doing it himself.

Aside from this new interest, feeding has been quite miserable the last few weeks.  With a cold right before Christmas and another one right after the New Year, his appetite and tolerance for anything but his bottle of Pediasure went right out the window.  Even now that he’s feeling better, meal times are hard.  He’ll take a few bites and then start crying and shaking his head.  There have been many days lately that he gets less than 20 bites of food all day.  He’s still drinking 2-3 bottles a day, so he’s not starving or anything but fighting to get food into him is not our idea of a good time.

So far so good with wearing the eye
patch again!

Connor has also started this strange head swaying.  He swings his head from side to side and his eyeballs roll up into his lids.  It’s a little dangerous when you’re holding him and he starts doing it as he doesn’t have a sense of where he’s swinging his head and it hurts when he makes contact with your jaw.  I’m pretty sure it is a sensory stimulation thing, but will ask the neurologist when we go next month. 

In other news, the ophthalmologist thinks it’s best to start patching Connor’s right eye again.  His left eye’s vision is worse than the right and it hasn't caught up like we hoped it would.  The doctor also thinks it’s time to introduce Connor to eyeglasses, so a pair of those will be in our possession in the next few weeks.

Never a dull moment in the Dean household!

Current requests for prayers and good thoughts – for Connor’s eating habits become more pleasant, for his leg braces to come in, for continued growth in self feeding, for an easy adjustment back to the eye patch and to the glasses.

Bonus pic of the kiddos reading together.  So sweet!

Connor's Top 10 for 2013

Happy  New Year!

Happy 2014 everyone!  A regular update blog post will be coming in the next week or so, but I thought I’d post Connor’s Top 10 for 2013 list as we reflect on the year and think about the one ahead.

10.  The end of 2013 brought Connor’s first successful attempts at munching or chewing on dissolvable  solids (cheese puffs, baby puffs).  While still very much a work in progress, he took some important first steps in this new adventure of feeding.  His awesome speech therapist and feeding expert, Deirdre, has been an awesome addition to the team.

9. Connor’s second eye surgery happened in May 2013.  This one was for strabismus.  We were so thankful and relieved when everything went well!

8. On October 26^th, we celebrated Connor’s 2^nd birthday.  Due to Clara’s insistence we had a great dog themed birthday party with family and close friends.  Connor took delight in the frosting this year and loved being the center of attention.

7. We’re hearing more and more sounds out of the little guy.  This fall he learned the sounds for four animals – sheep, horse, lion and cow (which sounds more like “ma” but we’re counting it anyway).  He can also identify the sheep, cow and horse on his puzzle.

6. After months and months of doing it for him, Connor learned “So Big” this fall.  Mama and Daddy both got teary eyed the first time he did this one.  Patience and practice paid off!

In his new stander

5. In January of 2013 we ordered three pieces of equipment for Connor.  If you’ve been following the blog, you know that it’s been quite the ordeal to get them.  By mid-October we had all three pieces.  The bath seat makes tubby time much more pleasant and safe, his positioning chair makes playing easier and his stander is a great way for him to build strength without us hanging on to him all the time.  While frustrating, the wait was worth it.

4. In the last month of 2013 Connor learned a new “trick”.  He can now follow the commands “legs up” and “arms up” while sitting or lying down.  It’s a huge thing for a little guy who has trouble with motor coordination.  He’s so proud of himself and likes to do it over and over.

3. This fall, Brent spent a lot of time working with Connor and his ring stacker.  Brent would go over the colors with him and I thought it was cute, but really not sinking in much.  Connor sure proved me wrong!  He can identify four colors (red, blue, yellow and green) with almost 100% accuracy!  A totally unexpected development, but we’ll take it!

Connor loves picking up the pieces of
his puzzle

2.  In September Connor started grasping things and he has made excellent progress with it.  He now loves playing with blocks, rings, rattles and puzzles.  He’s also started to pull Clara’s hair when he can get a fistful of it – never thought we’d be happy about him doing that, but it puts a smile on all our faces (except for Clara who says it’s starting to hurt because he’s getting stronger).

Sitting with our dog, Kota

1.  Topping off Connor’s Top 10 of 2013 list is his huge accomplishment of learning to sit.  In the spring he started sitting for short periods by himself and by summer was adding more and more minutes.  By the end of the year, we could sit him down and walk away without too much worry of him toppling over.  He’s sitting up straighter now, too, which means increased muscle strength in his core and back.

Those are just ten of the many blessings this year.  There were so many other ones along the way.  Here’s hoping 2014 brings days filled with learning, growth and love for all!

January 2013

December 2013

The Little Things

Frosting Face

We had a fabulous party for Connor’s 2^nd birthday.  There were family, friends, yummy food, dog decorations, cake and games!  Connor enjoyed the frosting on his cake this year.  He was quite the mess!  His OT was happy he had such a tactile experience!

Not a ton to report on the medical front, thankfully.  We are now followed by a great nutritionist through Early Intervention because we’re no longer seeing the nutritionist with the Feeding Team at CHOP.  She mostly monitors his weight and gives ideas about different foods and textures to try.  We’re also starting augmentative communication strategies.  A specialist was out and suggested really trying to teach “yes” and “no” both with words and head nodding.  She is also going to get him an iPad to work on fine motor and communication skills.  I think we’ll have a very jealous 8 year old on our hands soon!

I tried to get Connor into a developmental behavioral specialist to help figure out some ways to curb his tongue biting.  The wait list at CHOP is nine to twelve months long.  The next best place isn’t in-network for our insurance and so now I need to move to Plan C.  If you’re not sure what to do with your life, I suggest going into developmental pediatrics– there’s evidently a pretty big need.   I’m also trying to get him in for new hand splints and braces for his feet.  Hope to conquer that in the next two weeks.

First time in a restaurant highchair

Connor continues to make a lot of sounds, but really no new words.  He’s trying REALLY hard to say the “f” sound, so I think that will come soon.  He’s following more instructions like “pat the ___” and “hand ups, hand down”.  The 6,000 times we’ve all sung “If You’re Happy and You Know It” with him have also paid off.  He now claps (more like pats) his hands, kicks his feet and raises his hands up on the appropriate verses.  Carrie has also taught him to wave hi and bye.  He’s a bit more choosy with these, but he can do it!

Connor has graduated to two seemingly small, but VERY helpful stages for life out and about in the world.  With only some back support, he can now sit in a high chair at a restaurant and in a cart at the store.  So amazingly freeing to not have to drag his eating chair around and to not have to manage a stroller and a cart.

It’s been the little things this month – and for each and every one of those we give thanks!

Bonus pic of these cuties at the park this fall!