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.