Thursday, October 22, 2015

Alexis' Visit to Duke for Undiagnosed Diseases Network!

10 years ago this week, I was hospitalized for dehydration in my first pregnancy – I was expecting twins.  We didn’t think much at all about the dehydration and we just imagined I’d get some fluids and go back our normal work and doctor appointment schedule.

Things were different starting at 20 weeks, when they noticed that Alexis’ neck was abnormal, that her heart maybe had a defect of some sort.  We did amnio and then scheduled our follow-up for a fetal echo and to meet our first cardiologist.  Amnio didn’t reveal anything and the echo didn’t show anything abnormal. 

Alexis on the airplane!
When Kaitlyn died sometime between 24 and 29 weeks, I was put on mandatory bed rest and we got to do every three day visits to Boston.  It was then we were very thankful to be in Boston. 
Alexis ‘stayed put’ and she was delivered at 37 weeks.  I’ve chatted about all of these things a lot this week – meeting with doctors at Duke for the first time.  Alexis has seen specialists in genetics, neurology, orthopedics, GI, eye, dentistry and kidney areas.  Some of them know our Boston doctors – which is reassuring.  Some of them know really well what Alexis is going to tolerate and what Alexis is not going to tolerate.  Some of them even know when to tell she’s DONE and some of them think she can push through and cooperate with them.

We have done a lot of waiting.  Hands down, Alexis is much more patient than I am.  She’s a role model for entertaining herself and being flexible.  Mom isn’t so much.  In fact, Alexis deserves a real vacation after this – and I will remember that no matter how fun it is to spend hospital time – compressing it into 1 week is like a full-on marathon. 
Monday started with genetics – we talked for 5 hours.  I would like to think some of that could have been shortened, but I don’t know how to get around it any other way.  They asked about the reports we had provided from Boston Children’s Hospital.  They asked about details on Jessica.

Alexis waiting for Full Body X-Ray
Full Body X-Ray Brought to you by PHILIPS.
Then we went to x-ray for full-body x-ray.  I think we took 18 different x-rays – to get her full body.  I sure hope they share those back to BCH so that we don’t have to do another series of those in a long time.  Between those x-rays and CT scan, I’m thinking Alexis is full of radiation for the year!!!!

After x-rays, we went to orthopedics.  Alexis demonstrated walking and spinning in a chair.  She was in a great mood because they had one of her favorite Elmo-Cookie toys --- it was awesome to see her ‘old friend’ – it’s one of the toys we don’t have any more.  Orthopedics said she looked good and they were impressed with everything she was able to do.  They were a little concerned about her tight hamstrings and her crouched walking and standing position.  We were done, it was a full day and we were allowed to go back to the hotel to recoup and regroup for Tuesday.

Tuesday started with a bang – we had to get blood drawn.  Because this is a ‘whole family’ study, they took blood from me and Alexis.  Alexis got to go first – had to stick her twice and she was very grumpy and didn’t want to give a whole lot of blood at all.

Alexis waiting for GI
Then we went to GI – we talked about her episodes that she used to have – including retching and not being able to tolerate her g-tube formula.  We have been ‘treating’ those with probiotics and she doesn’t seem to have GI issues as long as she stays on her probiotics.  We talked a bit about Jessica and her GI intolerances.
When we met with Neurology, he had lots of questions about her brain studies – CT / MRI / sleep studies / EEGs.  Well, that’s a long list.  We have gone to BCH for different neurologists, but we don’t regularly get followed by one.  We do our sleep studies with Pulmonary or ENT, but there is a lot of information on the sleep studies.  We talked a while about the ‘central sleep apnea’ that Alexis had when she was about 2 months old that we treated with caffeine until she was about 1 year old.  It stumped the Doctor (like us) as to why Alexis would have developed central sleep apnea after not having issues when she was first in the NICU.

Alexis Chillaxing on Mom at Dentistry!
That day was short so we got a chance to visit with friends that night.  On Wednesday, we had early start with dentistry – she was fabulous.  She talked about techniques and support for Alexis’ in tooth brushing and flossing.  She really understood what Alexis was going to be able to tolerate and what she was getting grumpy about.  She talked a lot about when Alexis might get her front teeth and strategies about potentially pulling some teeth to give her mouth a little bit of space.
Alexis waiting at Nephrology!  Happy!
After dentistry, we had a kidney ultrasound.  Alexis enjoyed that testing the most.  She got to lie on the table and have someone else do all of the work.   

Then we went to Nephrology – we got a chance to talk about the medications we started in February 2007 and discontinued in August 2010 for Alexis’ pseudohypoaldosteronism type II.  Well goodness me, if I had known we were going to cover all of these indepth questions – I should have studied!  It’s good that I’m good with dates and that I remember most of this – but remembering the names of the drugs and the specifics of discontinuing them…. Well, let’s just say it’s a slow conversation.  Alexis was not a fan of the urine cath that they did after that appointment.  And even less of a fan of the blood draw after that – she even threw her favorite toy.  It was a toy we had as a hand-me-down from my sister – and my 21 yr old nephew used it.  So it cracked and Alexis looks at it now like “well, how come it broke, Mom?”  Hopefully we can do adequate surgery on the toy when we get home.
After that, we were done for the day.  Totally done she said.

Thursday started with the eyes -- seeing folks at the Duke Eye Center.  We saw an optician who told us that Teller Cards aren’t used to diagnose vision in kids after age 2.  She asked if Alexis would talk and then asked if Alexis would name the letters and then asked if Alexis would match photos….. I said no to all of the questions and then she dilated Alexis’ eyes and sent us off for photos of Alexis’ retinas.  I should have just said “no” especially since we tried for 30mins of fussing and fighting to get photos of her retinas.  She had to be able to hold her chin in one of those eye doctor chin things – then they needed to move a camera in and out to get the right angle for the photo.  Alexis did not cooperate.  At all.  She was done after the first five minutes L  They did manage to get the retina photographed of the left eye but she was adamant, no paparazzi of her right eye.  

Then, we were sent back to the original waiting room – and the ‘Fellow’ came out.  Keep in mind, Alexis knows eye doctors need to see her eyes and her reaction to having her eyes dilated is to just keep her eyes shut.  Especially when they want to shine bright lights into them --- She’s a good sport, but this was starting to get on her last nerve.  The fellow poked around then finally the eye doctor came in.  And sure enough Alexis was increasingly more and more rude to them all.  She didn’t mean to be, but she was really upset with them about the whole series of events. 

Now we are eating lunch and taking a break before our 1:30pm wrap-up with Genetics team.  It’s been a tough 4 days – mostly for Alexis. We are away from home, we are sleeping in a hotel, we are missing routines, we are waiting in waiting rooms and we are getting poked all week long!  She’s a tough cookie, she’s always showed us that – hopefully with this information and the Whole Genome Study – we can figure out her secrets.  And hopefully get more information to help her be stronger, smarter and happier! 

For more information about the Undiagnosed Diseases Network - read here:

Sunday, October 11, 2015

Camp Communicate - Some Photos from August

We are notoriously bad about enjoying moments with our kids and not snapping photos.  

Thankfully I have some awesome friends who will email me live-action photos of kids doing fun things.  In this case, we were at Camp Communicate in Maine in August.  

It was a fabulous camp with lots of great campers - I'm biased the two best ones were my own!  But all of the campers worked hard using their communication devices and being engaged in the camper activities.

Here are the live action shots by Randi Sargent - thanks Randi!  

Alexis in her walker - looking super-tall!

Jessica talking to Kate Ahern....

Alexis found an ORGAN and played it during the dance!

Jessica watching the end of camp video and Alexis goofing around with Dad!

Friday, October 2, 2015

Jessica Pain

Fun Title, but No Jessica is not a pain.

Jessica doesn't know pain, doesn't feel pain, doesn't recognize pain.

Why do I say this?

Here's the background data:

Age 4: Open Heart Surgery - up and walking around with chest tube hanging out 6 hours after surgery. Discharged after 2 days. 

Age 5: Kid steps on hand at school, breaks pinky bone on left (dominant hand). Jessica not in pain doesn't tell anyone for 2 days. 
Age 7: Jessica jumps off couch and lands on elbow. Breaks elbow, walks around 4 days with broken elbow. 
Age 7: Jessica twists ankle, breaks 4th metatarsal in foot, walks on leg for 2 days. 

So we try to go to BCH to get the best care we can because SHE DOESN'T REGISTER PAIN. SO THE FACT THAT THE XRAY shows an injury - treat the X-RAY not the kid that doesn't feel pain.

We didn't even get an Ortho consult at the ER.  And Dr that we saw says, if she doesn't need a walking boot - she can just wear her normal shoes.  I'm glad Jessica and I got some nap time in at the hospital.  

And that I'm a momma bear and with 14 phone calls-- I got them to see Jessica today at 1:15pm in the Ortho clinic for someone to really look at her.

Otherwise, we would have been waiting until sometime next week for the appointment.  

How else do I explain - This kid is super-human.  She doesn't feel pain.  Don't ask her where it hurts.  Watch her body language and feel her.  That's how we suspected it in the first place --- her OT thought "wow this doesn't feel right"

Let's help her out, PEOPLE!!!!!