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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!