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!

Sooooooo Big!

It’s hard to believe that in 36 hours our little baby boy will be two years old.  Not a baby anymore!  While this birthday isn’t bringing the anxiety that the last one did, I still feel this rise of mixed emotions when I think about it.  It’s hard to celebrate how far he’s come without thinking about or comparing it to other almost two year olds. 

But celebrate we will – Clara insisted we have a party, so we invited family, therapists and a few close friends to join us for dinner.  Clara wanted to know what the party’s theme was.  I was thinking a good theme was “Connor’s 2!”, but she had a whole other list of ideas.  We finally agreed on “dogs” as the theme since Connor loves our dogs so much.  I bought paper plates, napkins and such with dogs on them and thought we were good to go.  Clara then asked what games we were going to play.  I explained probably not any since it was mostly adults and Connor really didn’t know how to play any games yet.  She looked at me and said “Well without games it’s just dinner.”  Touché.  So now we’re planning games, dog themed games.  We’ll see how much gets done before either I run out of steam or Saturday night rolls around.  She just wants him to have the happiest birthday party possible.  Hard to argue with that.

Getting fitted for his positioning chair at CHOP

The big news of the last week is that we have received Connor’s stander and positioning chair!  He’s taken to them both very well, having playtime daily in both.  He stood in his stander for an hour the first night we had it!

We had checkups with the GI doctor and the feeding team this month, too.  The GI thought Connor looked great and wouldn't need to come back for four months.  The feeding team visit went really well, too.  Our Early Intervention speech therapist came with to the appointment so everyone could meet and make decisions together.  It was great to have her with Connor and I!  The feeding team, too, was impressed with how Connor was doing.  They urged us to continue to try to move him towards thicker purees in the hopes of introducing soft solids he can chew soon.  He had gained several ounces since our last visit six weeks ago.  To my surprise they said they didn't think he had to come back!  So we’re done with the CHOP feeding team, but will continue to work with Early Intervention therapists and maybe now a nutritionist just to be sure Connor’s making progress like he should.

Playing in his new stander!

And perhaps my favorite moment of hope and progress came tonight as we were playing before bed.  As we have for almost a year, we started playing the game “So Big”.  I asked “How big is Connor?” and he RAISED HIS LITTLE HANDS UP!  I was so thrilled I almost forgot to say “sooooo big!”  We did it over and over.  He smiled and I could tell he was proud of himself.  Brent and I both got teary eyed – we’d been teaching this simple little game for more than a year with very little evidence Connor was actually absorbing what we wanted him to do.  But he had been.  And for some reason, today was the day his brain decided to tell his arms to raise up.  It was beautiful.  It was one of the moments where you let yourself think “If he can learn to do this then he can learn to do…”

Prayers and well wishes are appreciated for continued progress with feeding, for the sore on his right hand to heal so he can start to wear his splint again, for Connor’s second birthday to be filled with joy and for our friends whose pending adoption of two boys goes before the court tonight in Ethiopia.

Yes, I Bit My Tongue

I must admit, patience and biting my tongue aren’t always my strong points.  But I’m patting myself on the back for doing both last week.  The little guy and I went to CHOP on Thursday morning to finally bring home his stander and positioning chair that we had ordered in January.  We were waiting in the room when the physical therapist and vendor rep rolled the stander in.  They took one look at Connor and the first thing out of both of their mouths was “This isn’t going to fit him”.  The stander that the PT who met with us in January ordered was for a child older and several inches taller than Connor was. 

While we were waiting for a call back from the original PT, I suggested we get to work on fitting his chair.  The vendor’s face went white as he looked at me and said “What chair?”  Sigh.  He grabbed his paperwork and started reading through everything.  He glanced up and said “I totally missed it.  The chair isn’t here. This is my fault.  I’m so, so sorry.”

We never heard back from the PT who ordered the stander and so we decided that instead of ordering a size down and waiting Lord knows how long for it, we’d add foot blocks to this one to give him some height and hope that does the trick.

An hour later, Connor and I walked out of CHOP with nothing.  I was proud of myself that I didn’t GO CRAZY on the vendor and PT.  I actually felt a little bad for the vendor.  I think he had had a pretty crummy week.  He probably apologized ten times once he realized he had forgotten the chair.  So I could have gotten upset and demanded things I knew they couldn’t give me, but I just laughed and figured what’s another three weeks of waiting when it’s been this long?  Frustrating and annoying, no question, but really what can be done at this point?

Connor also had a speech consult at CHOP and his Early Intervention review.  Through both visits it was decided that Connor would have a thorough speech consult with Easter Seals through EI.  He’s starting to make more sounds and probably has 10 words, but understands much more.   We think he’s getting frustrated with not being able to tell us what he wants.   I’m really hoping this consultant can give us effective and easy ways for us to help Connor learn to communicate.

September 2013

I know I’ve said it before, but I was reminded again at the Early Intervention review how incredibly blessed we are with the team that works with Connor.  His case worker does everything she can to get the services he needs, his therapists go above and beyond what they are expected to do in so many ways and I’m confident Connor wouldn’t be making the progress he is without Carrie, his amazing sitter.  It takes a village.  I cry tears of gratitude every time I think about the wonderful women that make up Connor’s posse. 

Continued prayers and good thoughts for healing for Connor as he’s had a cold for more than 3 weeks now, for his upcoming speech consult and plan of action and for continued patience as we await his equipment. 

Bonus pic!  I thought it was so cute to watch
Connor listen to Brent practice guitar.  He'd start
smacking his little bongo drums whenever Brent
played.  A budding musician!

September Updates

A few quick Connor updates for you…

Daytime hand splints

Today he was fitted for two sets of new hand splits.  He has day time ones that are small and thin and that will be worn most of the day.  These are to give a little sensory input to his palms and to keep him from tucking his thumbs.  The larger ones are for when he’s sleeping.  These will give his hand muscles a stretch and will hopefully train his body to keep those little thumbs out.

On August 29 I got the phone call that Connor’s equipment had arrived!  Unfortunately, they couldn't schedule us for his fitting until September 26, so we’re still waiting to actually have them in our possession.  But at least we know they will be ours soon!

Enjoying some beach time

Probably the biggest news in the last few weeks is that Connor has started hanging on to things put into his hands!  He likes tapping rhythm sticks, rattles and light weight toys on his feeding chair tray.  His grip isn’t super strong, but he’s doing great and seems to really enjoy his new talent!

The last two weeks of summer vacation were a great time for our family.  The kids and I visited my dad in Kansas, all four of us went to the shore for a week, Brent and I celebrated ten years of marriage, our family got to join in the celebration of Connor’s sitter Carrie’s 40^th birthday and we had some fabulous family photos taken!  So many blessings!

Happy birthday, Miss Carrie

And now we’re back to the madness of the school year – Clara started 2^nd grade and playing in the YMCA soccer league.  My work schedule has picked up again almost overnight as have Connor’s appointments.  So we’re adjusting back to longer days and less time together, but treasuring each day.

Thank you for your continued good thoughts, well wishes and prayers!

Family pictures September 2013

Special Kids

Doing therapy with her baby

I took this picture of Clara a few days ago and have been thinking about it a lot since then.    She was getting

ready to play baby dolls and said, “Let’s pretend that this baby has problems like Connor and that she needs help doing stuff.”   I still get this rush of emotions when I think about it – sad that she has this reality in her life, happy that she is just as loving to her baby with problems as all the others and proud that she is so engaged in Connor’s life that she knows what that baby needs!

Clara is usually in charge of saying our table prayer at dinner.  It most often goes something like this – “Dear God, thanks for our food and everything we have.  Please let Lola and Art have a baby or babies and let Tammy and Chris have good baby twin girls.  Amen.”  Now Brent and I know what her prayer means, but recently someone was with us and asked Clara what “good baby twin girls” means.  She replied, “Well they are having twin girls and I don’t want them to have problems…like Connor.”

I know that all of this conversation, prayer and play is really just her working things out in her mind and, honestly, I think she does a pretty good job of it.  But it creates such polarizing emotions in me that I sometimes don’t know whether to cry or smile.  Clara knows that Connor has “problems” and that his life will be different and harder because of them.   She also says frequently (ok, all the time) that she loves her little bro and is so glad he’s in our family and that she “doesn’t care if he has problems.”

Riding in the car cart at the grocery store

I posted that picture on Instagram and someone commented, “Every time I see a picture you post of her, I get more and more excited to see all the great things she is going to do in life.  She is SUCH a special little girl.”  I hold that comment and those like it very close to my heart.  My special girl for my special boy.

And now a few updates on said boy:

We’re still waiting for Connor’s equipment.  #*%!@ pretty much sums that up.

We’ll likely soon be using a Spio vest for him to help with posture.  Because he has such low muscle tone he sits very hunched over and that’s not good, so this (torture) device will help straighten him up.  Hopefully we don’t have to wait seven months for it to come.

Connor had a visit to the feeding team yesterday and while those appointments continue to be long and overwhelming I don’t cry from exhaustion anymore when we leave.  Lots of new recommendations again at this appointment including an increase in his Pediasure since he hasn’t gained weight in 10 weeks and the chance that insurance might cover it!  Yeah!  At about $4 a day for just the Pediasure, it can really add up.

Connor puckering up to give kisses

 Connor is also going to get an augmentative communication evaluation to see how best we can help him learn to communicate.  His Speech Therapist is working on this, too, but more ideas never hurt.   He has a few words that he’ll consistently say: daddy, dog, ba (for bottle), mo (for more), bu (for book), ba (for ball) and sometimes ma-ma.  And then just lots of babbling.

The OT that’s a part of the Feeding Team still thinks that Connor needs hand splits.  Since the little sensory input bands they gave us a couple of months ago aren’t really doing anything, she’s going to fit him for something bigger.  She said he might just have to wear them at night which would be great.

Current requests for prayers and good wishes – for Connor’s equipment to come soon, for him to start biting/munching on things so we can start moving him to solid foods, for his continued growth in strength and balance, for him to start grasping and holding on to things and for our family to be strengthened and renewed as we enjoy a few days at the beach next week!

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Joubert Conference - Part 2

Saturday – day four.  More practical workshops in the morning. Our first choice, Speech Apraxia, was cancelled because the leader never showed up, so we had to go to Dealing with the Stress of a Special Needs Child.  The gist of it was slow down, take time for yourself, exercise, breathe.  Well duh.  She did give a disclaimer that none of this is easy, but geesh.  I guess it was good to hear though.  The reality is that a kid with special needs does bring more or at least different stress to your life and it’s good to hear a reminder now and then to keep things in check.  Keep the priorties the priorities.  While neither Brent or I are good about taking time for ourselves or exercising, I feel like we’re doing a pretty good job keeping the first things first for our familes.  But needless to say, it’s a challenge.

We then went to another small group for parents with JS kids under six.  There was some great conversation and idea sharing.  It was neat to hear that several other families and kids have joys and struggles similar to ours and Connor’s.  Our other small group that day was around sensory processing.  The sharing wasn’t as rich as it could have been, but we did learn that other kids have sensory issues specifically around clapping and the song “Happy Birthday”.  No new ideas on how to deal with those issues, but it’s nice to know we aren’t alone.

And I think that was really the greatest benefit of the conference.  Even if I find it hard to face the realities of Connor’s syndrome and what may be down the road for us, I have now met others who are on a similar journey.  And when I want to, I know I can reach out to those we met or those who are in the Facebook group and they will be there with an idea for a current issue or just a kind, encouraging word.

Saturday night brought the much anticipated banquet and dance.  Clara had packed her fancy dancing dress

Clara let me take a picture with her date
for the dance.

and was really looking forward to participating the evening.  My sister also got to come for the festivities.  We had a lovely dinner, heard from the new President of the foundation, bid on a few items at the silent auction and then the dance began!  Clara started dancing right at the table and Connor started bopping along with her.  He squealed and bounced and laughed at all her crazy moves.  If you’re on Facebook, check out the super cute video on my page.  That was the third time I cried at the conference – simply out of love for my adorable children and the very special way they connect.  And then we all hit the dance floor.  It was a cool experience – dancing around with all the other parents and kids – and a perfect way to end the conference.

So overall, the conference was good.  While I didn’t learn as much new information or as many tips and tricks as I had hoped, I’m going to chalk that up to the amount we’ve read about JS in the last 15 months, the excellent care we receive at CHOP and our amazing therapists.  The next conference is in Chicago in July 2015.   I likely won’t be able to go because of the ELCA Youth Gathering, but Brent and Connor may go.  We are so thankful for the JSRD Foundation that values not only supporting and sharing the research that is being done around Joubert Syndrome, but also values gathering people affected by JS for learning and support.

Connor has always loved his bottle and now he can
hold it himself!

One quick non-conference fun thing to share with you – over the last few weeks Connor has finally started to hold his own bottle!  Such a big step as this is really the first thing he has held or wrapped his hands around.  We’re hoping for a rattle or toy next!

I also found out that while one piece of Connor's equipment is on back order, the other two are quite possibly just sitting in a room somewhere and the person at the medical supplier who can tell me where they are and when we can have them seems to not like to call people back  Pray for my patience and good will towards other humans!!

Joubert Conference - Part 1

Well, we did it.  We successfully made it through our first Joubert Syndrome & Related Disorders Foundation Conference.  I was quite nervous about the whole thing – not sure if I could handle it emotionally, especially after returning from an 11 day servant trip just 36 hours earlier.

All registered and ready for the
conference to begin!

When we entered the hotel, we were greeted by the only other person I knew there, Jackie – the conference chair whom I had been helping with hotel stuff.  She and her teenage son with JS gave us a warm welcome and pointed us to the registration table where we received a goody bag and a binder full of information.  My mom also attended and my sister came along to watch the kids so we could focus on the conference.

Our first session was a couple hours later and it was a compelling presentation by someone who shared views counter to what culture and medicine usually say.  She talked about doing away with the term “special needs” and about not devoting all of ourselves and our kids into the various therapies.  That all of this would eventually make them feel like something is wrong with them and that we’re trying to fix them. While a lot of her points made sense in a perfect world, I found it strange that a room full of parents and caregivers of kids with special needs were hearing her challenges to “the norm” as one of the first sessions.  A lot of what she said rubbed me the wrong way – maybe because it challenged so much of what I pour myself into – and I got a little crabby for the night, afraid that I was going to feel this way the whole conference.

So then it was dinner and a some socializing over a welcome cake.  We met a couple other families with older JS kids and chatted a little before heading to bed.  I was overwhelmed by being around other families. “Is this or that going to be what Connor is like when he gets older?” kept running through my head with every interaction we had.  The range of abilities was tremendous – everything that the literature had said was true – some people with significant delays in almost all areas of development and some who appeared and acted fairly “normal”.  Where on the spectrum would our little guy end up?  I cried that night (proud that I made it to the evening before I shed my first tear!) This feeling is the strangest mix of fear and hope. 

On Day two we heard several lectures – one as an overview with a focus on genetics and the latest testing being done, another on disordered sleep in JS. They were both quite interesting and given by doctors and researchers who you could tell really cared about our kids and helping them succeed.   Right now there are 21 identified genes that can cause JS.  Connor’s JS comes from none of these, so we wait for more research and then more testing.   There was also a great lecture from an ophthalmologist on the various eye issues and research.  Connor has two of the most common issues – nystagmus and strabismus.  We learned about a few additional tests we’re going to ask our CHOP ophthalmologist about.  Brent chatted with the doctor after the session and asked if he would take a look at Connor later in the day.

That afternoon we had a small group session with two other families and several doctors.  I must say the access to the top Joubert Syndrome researchers and doctors in the world was a highlight of the conference for me.   Sitting and talking about Connor to a doctor who had actually seen and treated other JS kids before was a treat!  We chose the small group with the ophthalmologist in it since that is one of Connor’s main medical issues.  He’s a great doctor from the National Institutes of Health (NIH).  Also in our small group was a couple whose 3 month old baby girl had been diagnosed with JS just six weeks earlier.  I couldn’t believe they were at the conference and holding it together as well as they were.  We’d see and talk to them frequently throughout the rest of the conference and when I gave kudos to the mom for being there with all of this being so new for them, she gave a half smile and said “Knowledge is power”.

Friday, day three, brought a good presentation on the Neurodevelopmental research from NIH.  From all the researchers, though, there was a lot of “we just don’t know” as there are so few JS folks in the world, their issues range so greatly and the research is slow to be funded and to happen.  The next session was a 45 minute lecture on Ciliopathies - not my thing and waaaay over my head.  There's a reason I took Health as my physical science in college. :)

In the afternoon there were various workshops to attend more “practical” topics.  We attended one on iPad applications for early childhood put on the by the PACER center in Minneapolis.  What a fabulous organization and resource!  While Connor is too young and/or delayed for the apps they showed us, we hope that all these apps will still be around when he is ready.  The second workshop we chose was on Applied Behavior Assessment (ABA) therapy.  It’s obvious that a host of behavioral issues are present for many kids with JS.  I feel like this workshop never “got there”.  She talked a lot about the philosophy (of which I knew a lot of already) and never really applied it to life.  So a little disappointed with this one.

Later in the afternoon, we took part in two studies that the NIH and the University of Washington were doing at the conference.  The first one was studying the growth patterns in JS individuals.  They took all kinds of measurements on Connor, Clara, Brent and I.  We met and chatted with the head of the research department at NIH and she expressed an interest in including Connor in their current research even though it’s officially closed.  All she needed to start with was his brain MRI, so we were happy to get those records for her!  She is studying the variations in the brain malformation of people with JS and seeing if there are correlations between specific malformations and the person’s clinical realities.  This is huge as it could help to give parents and those affected a better idea of a prognosis for future development.

Best buddies

Then we went to the other study which was collecting skin biopsies on affected and unaffected kids.  With a bit of coaxing, Clara agreed to give a sample.  I was bursting with pride over her willingness.  Just another example of what a wonderful big sister she is to our little man.  I didn’t realize how much skin they actually take, so I was surprised, nauseated and heartbroken over what my kids had to endure.  Clara was  trooper and barely shed a tear until it was Connor’s turn.  She hid in the bathroom with the fan on because she didn’t want to hear him cry.  And cry he did.  Screamed like a little wild thing.  But he was comforted quickly and recovered nicely.  I can only hope that their contributions will help us and future JS families.  I cried that night, too…overwhelmed and angry that my family, my kids had to be a part of this.  Feeling bad that I basically made them both suffer through the biopsy, but knowing it was for the good of the cause.

To be continued...

Some Days Are Harder Than Others

I write this entry while sitting in a restaurant, trying to get some things done for work.  But instead, I can’t stop staring at this couple and their adorable little girl.  She must be about nine or ten months old and she keeps putting her chubby little hand up to her lips and blowing kisses to the waiter.  And again I get that all too familiar pit in my stomach and tears in my eyes.  MY adorable, precious little one is almost 20 months old and can’t do that.  I’m not angry their baby can do it. Maybe I’m jealous?  Maybe I’m just sad?  Maybe it’s hope welling up inside of me?  While I feel like we often survive on hope, today it just feels bad.

I suppose this feeling will follow me for the rest of my life – or at least for a long while – as Connor continues to meet the milestones he will at a pace that is his own, as he gets left in the dust by his peers and has to find his own way.  I can’t help but wonder if he’ll ever put his little hand up to his lips to blow me a kiss.  I can’t help but be mad at myself for not treasuring those little things more when Clara did them.  Moments, days like this are hard.

Not quite a “poor me/us/him” moment today, but close enough that I need to stop myself.

Sensory play with chocolate pudding. We're
also hoping he starts to realize that he can take
food and put it in his mouth.

Ok – on to the good things we have to report since the last post.  Connor had a post-op with the ophthalmologist and got a thumbs up for how he’s recovering and how his eye is functioning.  He had an appointment with GI and she was pleased with how he looked and felt.  We also visited Radiology for his annual ultrasound of the kidneys and liver.   Those all still look normal!  So good news from all the checkups this month.

His latest visit was with an Occupational Therapist at CHOP to see about getting hand splits.  She decided to downgrade a bit and he just has little straps to wear around his hand to give sensory input to encourage him to open his hand.  We're not really seeing any improvement, but are going to stick with it and see what happens in the next month or so.

Connor continues with all four therapists over the summer.  He’s growing stronger and is getting better at sitting for longer periods – he did 8 minutes independent sitting (with just two quick breaks) and playing a couple of weeks ago!  That’s not the norm yet, but it was awesome to see what he is capable of.

Connor LOVES the dogs.  He sat and watched Dharma for
quite a while this morning.  She was so sweet with him!

We’re taking a little break from doctor visits for the next month or so as I’m away on a servant trip for work and then we head to the Joubert Syndrome conference and time with family and friends. I'm sure there will be a lot to reflect on and write about after that experience!

We continue to welcome your good wishes and prayers for Connor to starting grasping things, increased strength in his arms and for his equipment that we ordered in January to get here SOON!  Also for Brent who will be here with the kids while I'm away for work for 11 days.

Big Couple of Weeks

In the last two weeks, Connor has had three major appointments at the Children’s Hospital of Philadelphia (CHOP).

The first was the Feeding Team.  I’ve dreaded the last few of these appointments (see March 1 blog), but this one wasn’t so bad.  It helped that he had that major breakthrough with his eating form a few weeks earlier.  It was great to have progress and happy news to report to the team this time.  They had a few suggestions regarding feeding and what I was pureeing for him, but nothing too overwhelming. The Nurse Practitioner on the team put him on Miralax to help with constipation.  So far it hasn’t done much, but we’ll just keep upping the dose little by little until it does. The Occupational Therapist was concerned when she saw Connor with his thumbs tucked in-between his pointer and middle fingers.  She wants him to be fitted with hand splits that will force him to have his thumbs out.  She said it may even help with him grasping things, but I can’t imagine how a brace on your hand will help with that.  I guess we’ll see!

This past Wednesday, he was at the Neuro-Muscular Clinic.  I was a little sad after this appointment because by the time we actually saw the doctor, Connor was tired and hungry so he really didn’t “perform” very well for her.  He didn’t want to sit or bear weight on his feet or roll over on his belly and had very little interest in his toys.  Sometimes I feel like the doctors don’t really believe me that he can do what he can unless they see it firsthand, so I was bummed. But not much I could do about it, so gotta just move on.  The Geneticist reported back that all of the tests had come back negative – meaning that all the genes they currently have linked to Joubert Syndrome are not why Connor has JS.  So now we just wait for research to discover something else and then we’ll get that new panel of genes tested.

Little man ready to head to the OR.
They stamp the side they are supposed to
operate on so there isn't any confusion or
mistakes made!

And finally, on Friday Connor had surgery on his left eye.  Here are some more medical terms for ya - esotropic hypertropia Strabismus.  Basically, his left eye drifted in and up, especially when he looked to the right, due to the lack of coordination between his extraocular muscles (the six muscles that control the eye).  While it’s a fairly simple surgery, it’s still pretty nerve racking to have your little guy go under anesthesia so a doctor can cut his eye muscles.  But (after a three hour delay) everything went very well and we are so thankful to Dr. Mills and the great team at CHOP that took care of Connor.  Before he went into the OR, eight different medical professionals came to check in with us, explain things and answer questions.  There was no doubt our Connor was in good hands! 

He’s still recovering 48 hours later.  His eye is bloodshot and a little swollen and bruised.  He isn’t his normal cheery self and his appetite isn’t what it should be.  We’re hoping that by Monday or Tuesday he’s feeling closer to 100%.

Clara and her horse, T.A.T.

We’ve enjoyed an unusually quiet weekend at our house.  I’m off and around and there isn’t too much on the social calendar.  It’s been great.  Clara, Brent and I did go on a bit of a family adventure today, though.  We went on a great trail ride on horseback.  We’ve had it planned for a month and Clara was so excited to go that we just had to leave the little guy for a few hours.  It was super fun and also gave us some special time with our darling girl.

Current requests for prayers and good thoughts – continued healing for Connor’s eye, continued improvement in his feeding and sitting and that he starts to say a new word or two very soon.

Surgery, Swinging & Shopping

At our last ophthalmology appointment, the doctor said that it was time to do surgery on Connor’s eye.  Since last July his left eye has been drifting in when he looks right.  It’s bad enough that his pupil completely disappears and it’s preventing proper vision development. This is a different surgery than he had on his eye at 7 weeks, this one will involve his eye muscle.  It’s scheduled for May 24 at the Children’s Hospital of Philadelphia.  If all goes well with the surgery and Connor coming out of anesthesia, he won’t need to spend the night.  Prayers and well wishes are welcomed starting now!

In happier news, Connor is progressing nicely in his feeding.  Maybe the Speech Pathologist that started a few weeks ago has the magical touch or maybe the homemade food is really helping or maybe he was just ready to turn the corner, whatever the reason, we’ll take it!  His strange sucking tongue pattern is almost gone, he usually has good lip closure and sometimes even opens his mouth when he’s ready for another bite!  He still has a long way to go, but it’s nice to have some progress in this area.

The Speech Pathologist works with feeding, but also with communication.  Right now, Connor has one word – more.  It’s actually comes out “mo”, but there’s no misinterpreting what he’s saying.  He’s said “book” a few times and said “ma” the other day when I picked him up from the sitters.  While he can’t verbalize a whole lot, we know he understands quite a bit.  He knows our names and certain objects, he follows certain commands (the biggest deal right now is that his hands are constantly in his mouth, so “hands down” is our mantra with him), he looks to the window when we say “bus” (he sits there every morning and watches the school buses go by) and a host of other things to let us know he’s paying attention.  So hopefully we can develop a mechanism for him to communicate back to us because “mo” just isn’t going to cut it for much longer.

He’s also had some cool “firsts” in the last few weeks.  He got to ride in the shopping cart seat for the first time while I was running errands for work.  He had bumpers on either side, but really seemed to like this new view on shopping.  Connor also had a first at the nearby park – his first time swinging!  He loved it and I know that as he gets stronger this summer his time in the swing will increase.

Last week, I took him to his 18 month well visit with our pediatrician.  He’s 34 inches long and weighs 22 pounds 4 ounces.  He’s grown one inch in the last 3 months and gained half a pound. 

Prayer and good wishes requests: obviously for Connor’s surgery, for a positive feeding appointment next week and for continued progress physically and with his feeding.

Entering Battle

I’m about to enter into my first battle with the insurance company.  We received a letter a couple of days ago saying that our request for Connor to have a positioning chair has been denied.  Evidently a feeding/positioning chair is not a medically necessary piece of equipment.  (Aaaah!!!)  So now I begin the appeal process and battle with the insurance company.  Luckily, there is someone at CHOP to help with this and I’m optimistic we can prove it is medically necessary, but it just means Connor will have to wait several more months for this vital piece of equipment.  I’m happy to report, though, that they did approve his stander and bathchair, so those should be arriving in the next 4-6 weeks.

Other than the Pulmonary appointment on March 1, we haven’t been to a single doctor appointment in the last six weeks!  Unprecedented!!   There are many coming up in the next five or six weeks, but the break has been so nice.

The latest additions to Connor’s line up of tools are his very stylish DAFOs.  These orthopedic braces

support his ankles and help him learn how to stand.  He doesn’t like putting them on very much, but once they are on he’s fine and is tolerating longer periods of being upright.

Last week we had Connor’s Early Intervention one year review. This year has gone by so quickly!  We continue to be so blessed by this program and his amazing therapists, Beth, Sandy and Katie.  We spent

Connor is really into moving gears around and around.
Great work out for his little hands!

some time evaluating Connor’s progress and looking over the scales they use to measure his delays.   Connor’s physical and adaptive development (PT & OT areas) are at about 4-5 months – meaning developmentally, he’s like a 5 month old when it comes to gross and fine motor.  While we knew this, it’s always a little sobering to see it in black and white.  We haven’t gotten the scores on social development yet.  He’ll likely score higher there, but still not in line with his 17 month old peers.

Lil man sitting in his corner chair so he learns to
sit up straight and tall!

EI is adding in a Speech Pathologist to the mix of therapists to help with Connor’s communication skills.  I know he’s understanding some words and phrases now, but has very few ways of communicating to us so I’m hoping the SP can help him so he doesn’t get frustrated.

It was Friday, April 13, 2012 when we received a phone call from the neurologist with Connor’s diagnosis. 364 days now of our new reality.  In these last 12 months Connor has had 24+ visits to CHOP doctors, about 26 helmet appointments and approximately 170 therapy sessions.  I’ve learned more about the brain and development in the last year than I ever thought possible.  There have been some really hard days, but some really awesome and hope-filled days, too. Connor’s progress continues and our love grows. 

Here’s to the next 364 days!

February - The Month of Appointments

February 2013 was filled with doctor appointments, tests and mostly good news.

A check up with the gastroenterology (GI) doctor was easy and quick.  She was happy with Connor’s slow but steady weight gain and said to remain the generic Prevacid to see if it helps/continues to help with his choking and other issues possibly related to reflux.  She also recommended adding more fiber to the little guy’s diet to get his bowels moving on a more regular basis. J

We also had a repeat Barium swallow study that day and it went very well.  No signs of aspiration on thin liquids!  So we’re down to ½ TBsp of cereal in his 6 oz bottles now – down from 2 TBsp per bottle.

Connor had his 15 month check up with Panda Bear Pediatrics.  He weighed 21 pounds 9 ounces and was 32 ¾ inches tall.  The resident that is studying with Dr. Dominy was very intrigued by Connor’s diagnosis and asked lots of questions about Joubert Syndrome.  He apologized saying, “I’ve just never heard of this syndrome before”.  My response was “Join the club!”

Happy baby at lunch.  He was eating food with little
pasta chunks in it and he has figured out how to
spit out the little pastas rather than have to
learn how to chew them

On February 20 we had another follow up with the Feeding Clinic.  These are always hard appointments for me.  There are four specialists (Speech Pathology, Occupational Therapist, Nutritionist and Nurse Practitioner)  that work together for one, two hour appointment and while it’s really great to have them all in a room talking to each other, they each come up with 2-4 recommendations for changes or additions to Connor’s routine.  About two people into the recommendations portion of the appointment I usually get pretty overwhelmed.  This time was no different.  The biggest change is that they want us to move to pureed table food rather than the jarred baby food.  They say it’s more texture and calories.  My head spins a little with the thought of having to make all of his food as it seems like one more thing to do, but since he’s older now we can literally just put whatever we’re having into the blender and give him that (pureed tacos – yum!).  

And then there are recommendations like the one trying to address Connor’s oral sensory issues – “Touch Connor’s toothbrush to his lips ten times a day until he accepts the toothbrush on his mouth”.  It’s those recommendations that make me all the more thankful for Carrie, Connor’s sitter.  Fairly certain toothbrush lip touching will happen primarily when she has him as I just don’t see it happening as often at our house.  And on and on go the recommendations.  At the end of the appointment, I looked at these four ladies and simply said “We’ll do our best.”  Pretty much my mantra.

Sad baby at his sleep study

The following week was Connor’s sleep study.  It was horrible. He cried for three hours that night. The poor little guy had wires and goop all over him.  They had to wrap his head every which way to keep everything in place.  He had tubes up his nose to measure breaths which he HATED and figured out how to pull out which meant the tech had to put his arm in a straight brace for the night so he couldn’t reach his nose.  He finally fell asleep about 11:30 p.m. and slept until they woke him at 6:00 a.m. with only a couple little wake ups in between.  We were both ready to get out of there!

We saw the Pulmonologist today and she said the results of sleep study came back normal.  Yea!  No sleep apnea!  That was music to my ears as I just couldn’t imagine transitioning him to sleeping with a CPAP or any other kind of device.  She also said that Connor seems to be doing well enough lung wise that he doesn’t have to see her again for six months. 

I’m thankful for all the good news we received in the last month and challenged by all the questions and tasks still before us.  One day, one week, one month at a time.  Thanks for your continued prayers and good wishes!

The Sub-Culture

There’s a lot of stuff rumbling around in my head and heart lately related to being the mother of a child with special needs.  It mostly has to do with the sub-culture that is Special Needs Parenting.  Many have asked if I/we have found a support group or someone in a similar situation to talk with.  The truth is, while I do have a couple of friends who have kids with special needs and we message on Facebook sometimes, I’m leery to jump into the sub-culture.

While well intentioned and fiercely in love with their children, I have been overwhelmed, annoyed, disheartened and made to feel inferior by more than one parent of a special needs kid and their unsolicited advice.  Overwhelmed and disheartened when it seems all these moms (in my experience, it’s been moms I’ve spoken to) can talk about is their child’s latest struggle or success, therapy or doctor appointment.  I’ve been told to hold on to hope and to fight harder for my child and the services he does and will need.  I’ve been questioned about my ability to work full time outside of the home and keep up with Connor’s needs. 

Frankly, my life is crazy enough.  I haven’t been wanting to take it up a notch by entering into this kind of community.

I also think I have a fear of hearing and seeing what might be ahead of us.  I don’t think I’m in denial about Connor’s diagnosis and what that might mean for him and us, but it is quite easy to just look at the here and now.  Being around other kids with special needs and their parents scares me.  Scares me enough that I had decided not to go to the Joubert Syndrome conference this summer.  I had a physical, anxious reaction every time I thought about the conference and interacting with other JS families.

So all of this has been on my heart the last couple of months.  I’ve really wrestled with these feelings as my extroverted side has always driven me to engage in groups, meet new people and go to things that I can learn from and have fun at.  To all of a sudden feel like you want to do the exact opposite has been hard.

But I’m entering a new place with some of it, realizing that this is a community and sub-culture I must be a part of in some way so that I can be the best mom possible for Connor.  We’ve decided to FOR SURE go to the JS conference.  Brent really wants to go.  It’s in Minneapolis so we’ll be able to see friends and family and bunk up at friends’ houses for free. And we won’t be able to go in 2015 because of the ELCA Youth Gathering being the same time, so it would be four years until we have the opportunity to go again.  And while I’m still nervous and not sure, I don’t feel like I’m going to throw up every time I think about going.

I joined the Facebook group for JS Parents.  I’ll probably just lurk for a while and see what folks are talking about, but it’s a step.

I’ve also Googled a family nearby who has a daughter with JS.  She was featured in a local paper not too long ago because of her trip with Make A Wish.  Not quite ready to call yet, but I have their number and hope to make contact with them this spring.

So I’m dipping my toes into the sub-culture of Special Needs Parenting.  Curious, wanting, leery and ready to defend our family’s unique situation and decisions if need be.  I ask for your prayers as I navigate these unfamiliar waters!

Cute picture of my little Valentines just because!

Early 2013 Update

It’s been a while since I’ve hit the ol’ blog.  

Making eyes at Tink

First, let me just share that we had a fabulous time at Disney World! Clara loved meeting the characters, going on all the crazy rides, trading pins and seeing the sites.  Connor was a champ.  He got to go on several rides and flirted with all the princesses he met.  One of our favorite moments was when we got to visit Tinkerbell and her sister, Periwinkle.  It was on Clara’s “must do” list and Connor was mesmerized by the fairy sisters.  We all had such a great time and it was wonderful to get away and focus on family and fun for a few days.

Connor’s had a number of appointments at CHOP in the last week.  He had a check up with Neurology in the Neuro-Muscular clinic.   His neurology doctor has been out on maternity leave, so they hadn’t seen him since August.  She, along with the PT and OT of the clinic, were pleased with his progress.  He was quite the charmer for them and even sat unassisted for several seconds when the OT was examining him!  We also met with the geneticist.  She shared the results of Connor’s genetic testing and so far the results have come back negative.  They just started testing nine other genes for Joubert Syndrome though, so now we’ll do that test and see what the results show.

At the seating clinic trying out a new chair

After the neuro appointment we went to the seating clinic to figure out what pieces of equipment Connor needs.  We ended up ordering a stander, a seat and a bath chair.  The process of choosing was a bit overwhelming as there are so many choices and things to consider.  We had to use our “phone a friend” and draw on the expertise of our PT at one point.  I hope we made the right choices.  Unfortunately, the equipment takes three to four months to arrive so it will be a long time before Connor gets to use his new stuff!

A couple of days later, Connor had a check up with the ophthalmologist that did his surgery and has been watching his ptosis.  They redid the vision test Connor didn’t do so well on in December and this time he scored right where he should!  It’s a test that requires him to track side to side and the doctor thinks that because of his nystagmus the tech who did it last time had a hard time deciphering what was tracking and what was unwanted eye movement.  This time they had him track it up and down and he did great!  All that vision therapy is paying off!  The ophthalmologist was pleased with how his eye looks and we don’t have to see him again for a year.  We’ll continue to see the other ophthalmologist who has mainly been looking after his nystagmus and strabismus. 

Next week is a GI appointment and a repeat swallow study, so prayers and good thoughts for both of those are appreciated!