Happy Easter!

Happy Easter from Owen & Callie! 

Walsh Lab, Boston

Over two years ago I learned about the Christopher A. Walsh Laboratory in Boston.  They research genetic mutations that can alter brain development and lead to malformations like polymicrogyria.  By studying individuals affected with these conditions and identifying the associated genes and their mutations, they learn about the proteins that are important for brain development and hope that this will lead to better options for diagnosis, management and treatment.

The Walsh Lab has a Brain Development and Genetics clinic that evaluates children with a wide range of brain development disorders, including PMG.  The clinic combines their specialties of neurology, genetics, genetic counseling and research to provide a comprehensive approach to working with families impacted by brain malformations.  Shortly after learning about the clinic I started the process of having Callie evaluated, but got side tracked with her weight gain issues and then feeding tube placement and never followed through.  A few months ago I reached out to the Walsh Lab again to set up an appointment, and a couple of weeks ago we finally made the trip.  It was worth it.

Their team was wonderful and met with us for about two hours.  We talked at length with Brenda Barry (genetic counselor) and Dr. Anna Poduri (neurologist).  Dr. Chris Walsh then joined us to meet Callie and give us his opinion of her case.  The bottom line is her MRI shows fairly extensive changes with regard to her perisylvian PMG, but clinically she is on the better end of the spectrum with excellent development.  They mentioned the fact that her seizures were controlled immediately (her infantile spasms were controlled within one week with prednisolone) has no doubt contributed to her success.  Good signs include she does not have a drooling problem that is common with her type of PMG, she makes vocalizations, is socially aware, cognitively tuned in, motivated, and her body is not stiff.  These are all common symptoms that she seems to have avoided at this time and indicate she will continue to make progress.  We learned an interesting piece of new information... Callie's MRI imaging is unique in that there are deep 'folds' in the cortex or outer layer of the brain that seem to distort the shape of the ventricles and the corpus callosum.  These infoldings are not common in PMG cases.  They were intrigued by her and invited us to participate in their research studies.

We stayed after our appointment to sign consent forms and provide samples to officially enroll.  They are building a large collection of PMG patients with the goal of sequencing their genomes.  Their plan is to identify key genes that are associated with the condition by comparing genomes of patients and parents with hereditary PMG versus sporatic cases.  This seems like a great resource for our family.  To sequence Callie's genome means they will forever have a genetic profile of her condition.  If they find genes that are altered in Callie, there could be potential for treatment.  This would of course take years, but the pace of things in research is moving exponentially.  Who knows what they can accomplish in Callie's lifetime!  

Dr. Chris Walsh

 Dr. Ann Poduri

Thank you, Aunt Rhine! xoxo

Almost Spring!

We are so ready for spring!!  There were a few mild days last week and we loved getting outside for some fresh air.  We look forward to many more warm days soon!

Yoga

We keep a notebook in Callie's preschool backpack and her teacher sends short daily notes home to let us know how or what Callie does in class.  The other day part of the note said "We did yoga in gym and Callie worked very hard."  I thought that was so cute that they did yoga at school!  After reading the note, I turned to Callie and asked her if she did yoga with her friends in class.  She looked at me as if she were excited that I knew and nodded her head yes.  Then I asked her if she could show me her yoga moves and it looked something like this:

How adorable is it to see our special little 3 year old doing yoga?!  Love this girl!!  :)

Blendtec and Callie's Blendarized Diet

I recently changed Callie's diet to include blended food.  A blendarized diet is simply regular table foods blended into a fine enough puree to be easily given via a feeding tube.  I started looking into this alternative way of tube feeding after learning about it from a special mom friend.  She exclusively feeds her son blended food and graciously offered to show me how it is done.  I watched and took notes as she prepared large batches of balanced nutritious meals and then froze them in individual servings.  She explained it is easy to feed him nothing but healthy and organic foods because unlike most little ones who would balk at eating such a variety of vegetables and even things like sardines which are high in omega-3 and B vitamins, he does not taste them.  She told me about squirrel syringes (the very best syringes for tube feeding) and loaned me "Complete Tubefeeding" by Eric Aadhaar O'Gorman.  This book is an excellent guide to tube feeding and I highly recommend it to anyone going down this path.  In addition, it goes on to make a case for a blendarized diet explaining it is a more natural way of eating, can offer complete customizable nutrition, feels better to the tubie, and can provide countless health benefits.  After having Callie on Elecare formula for over a year and a half I was ready to give it a try.

In order to start this type of diet, it is best to have a high-powered blender, namely a Vitamix or Blendtec.  Using a high-end blender helps avoid clogging a tube.  I started comparison shopping and while both are no doubt amazing machines (check out the "Will It Blend?" videos on YouTube to see the Blendtec blend items like iPhones to dust), I liked how the Blendtec fit under the cabinets on our countertop (the Vitamix was too tall) and the sides of the Blendtec jar are smooth instead of grooved, and therefore easier to remove the food and clean.  I heard both companies offer discounts for those using the blenders for medical needs and ended up calling Blendtec first.  They were extremely helpful and caring, and a week later we had their Total Blender Classic Wildside on our front doorstep.  I can't say enough good things about this company and the blender is wonderful!

It is our goal to have Callie eat 3 regular meals a day plus snacks.  We offer her food at the table with us at meals, but do not pressure her to eat a certain amount in an effort to keep eating a positive activity.  After she eats what she can by mouth, we follow her meal with two 60ml syringes of blended food plus two syringes of water.  Her typical morning blend consists of oatmeal, whole milk, 2 fruits, walnuts, applesauce, Chia seeds, and a little extra virgin olive oil for added fat & calories.  An example of her lunch & dinner blend includes whole milk, rice, chicken, veggies, fruit, Chia seeds and oil.  While we were working up to a couple of syringes of blended food after each meal, we began cutting back the amount of formula she was getting overnight.  I am counting her calories and trying to gradually add more during the day and slowly cut back at night.

We have noticed a change since beginning this diet!  Callie is really filling out and just seems... solid!  I am thrilled to report she broke 30 pounds last month.  This feels like a huge accomplishment.  I have worked hard to get every ounce on her and it just makes me so happy to see her thriving.  We moved up to a new size of pull-ups and I've been buying her new, bigger clothes.  She also seems to have more energy.  I really feel like this diet has been a very healthy change for her and look forward to continuing to move towards more blended food.  We are getting there and it should not be too much longer until she is done with medical formula at night.  Once she is consuming all of her calories during the day we will then gradually try to start cutting back on the blended food as she is able to eat more orally and she will eventually be done with her tube.  But we are okay with as long as that takes and are just satisfied that she will soon be consuming an all natural diet.  Slowly but surely we are making progress on the food front!

BTW, next week is Feeding Tube Awareness week.  We ♥ our tubie!

PMG Awareness & Daytona

When a tiny 3 week old baby girl was diagnosed with polymicrogyria in 2011 her mother and grandmother felt discouraged and disappointed when they were able to find very little information and support.   They ended up feeling inspired to do something about this and, along with some other special moms, started a non-profit called PMG Awareness Organization (PMGAwareness.org).  Their mission is to promote awareness, diagnosis, and treatment of polymicrogyria through education, research, advocacy, and support.  Their website consolidates all PMG information into one place and is especially helpful to families receiving the diagnosis and looking for answers.  It is also a great place to learn how to connect with other PMG families.  Callie's blog is listed on their site.  

One member of the board of directors of PMG Awareness has a family friend who has been pursuing one of his passions, race car driving.  He is racing for TruSpeed Motors in the Rolex 24 Hours of Daytona in Florida next week from January 26th-27th.  This wonderful and caring man wanted to do something special to help and as a result offered to put the PMG Awareness logo on his car and have patches made for the race team and pit crew to wear on their race uniforms.  He is also putting the names of PMG kids on the car.  Callie will be one of them!  This is a wonderful opportunity to raise awareness of polymicrogyria since the race is huge and will be televised on the Speed TV network.  If you catch any of it, please join us in cheering on TruSpeed!

EoE Update

Last Friday Callie had another upper GI endoscopy, her seventh to date.  We know the routine well, but it never seems to get any easier.  Callie knew what was going on as soon as we were called back to the prep area and was not happy to be there.  After getting her changed, reviewing her medical history with the nurse, and touching base with the anesthesiologist, we headed back to the procedure room.  I talked to her as we were wheeled back and explained to her that she would wear a mask and then would take a nap and I would be with her when she woke up.  She didn't want to hear any of it.  She was terribly upset and crying.  Once the team was assembled in the room it was time to begin and they placed the mask on her little face while I held her, unsuccessfully trying to comfort her.  She fought it as long as possible until she succumbed to the gas and drifted off to sleep.  As usual, I fought back tears during these traumatic moments, and then reluctantly handed her over and fled the room so that I could let them flow.  But the worst was over and things turned around from that point.

While I waited by her side for her to wake up in the recovery room, the GI doctor came to speak with me and advised the scope looked clear!  Biopsies were taken and the results would take a week to confirm, but his impression was she passed dairy.  Wonderful news!  We did not have long to talk, but I told him of the top food allergies she had now passed everything except nuts and shellfish, which haven't been tried yet.  I asked him if I could just keep these items out of her diet (we can live without them!) so that we do not have to go though another endoscopy for a long time.  He said that would be fine, although we will eventually have to scope when we try to take her off Prevacid.  I was just happy to know we would not have to go through this again for a while.  Also, I remarked how it was amazing that we thought she was allergic to everything and now maybe nothing!  He said most likely she has grown out of the allergies that originally caused her EoE.  Although in the back of my mind I kept thinking about CHOP's opinion that she was possibly mis-diagnosed and that perhaps reflux, not food allergies, has been the problem the whole time.  We will never know.  But the important thing is we now know she is able to safely consume nearly all foods!  And we are so incredibly thankful for this!!

New Year

I recently started reading another blog by a mom with a little girl with developmental delays.  In a new year post she reflected on her past year saying it was the year of walking and the upcoming year was going to be the year of talking, whether verbally or with the use of an AAC device.  I feel the same way!  2012 was huge for us with Callie learning to walk at just over 2 1/2 years old.  It is my hope that 2013 is going to be the year of talking, and let's add feeding to the mix.  I feel confident we will soon be able to wean Callie from her night tube feeds of formula so that she consumes all of her calories by day, whether orally or orally supplemented with blenderized food via tube.  More on that very soon.  And it would be wonderful is she ends up with some words (or even approximations) this year, but I will be thrilled if we simply begin to have success with an AAC device.  As I previously mentioned, we recently received Callie's DynaVox Maestro.  I spent 3 hours with the rep last week learning how to program and customize it for Callie.  I have been working on it a little each day, but I have to admit it is slow going.  It is quite an undertaking to set up.  Callie has played with it here and there and is familiarizing herself with how it works, but we have not yet really tried to use it for communication.  Hopefully I can wrap up the programming this week.  

At any rate, I feel excited and optimistic about what this year may bring for Callie.  Happy New Year!

DynaVox Maestro

I mentioned a couple of weeks ago that Callie has Childhood Apraxia of Speech (CAS).  We had her evaluated and it was determined that she is a good candidate for an AAC device.  We decided to start with a device from DynaVox called the Maestro instead of the iPad for various reasons.  Right now Callie sees the iPad as a source of entertainment and I think it might be difficult at this age to change it's use to a speech device (I can see her exiting out of the speech app at any chance she gets to switch to Angry Birds or her favorite Baby Signing Time videos!).  Also, you can change the screen sensitivity, the buttons are larger, the speakers are better (louder for places like a restaurant), and it has more customizable options for a little girl's voice.  Her SLPs also have more experience with DynaVox devices, so hopefully it will be easier to incorporate it into her therapies.  These are just some of the reasons that we feel like a DynaVox is the best place for her to start.  If this ends up being a long term solution, I can definitely see switching to the iPad as she matures and gets the hang of using a device for speech.  And since we have one, it will be easy to simply purchase an app when the time seems right.  They are constantly improving and adding new speech apps, so hopefully we will find the perfect one for her when she is ready.

Here is a picture of the Maestro:

It just arrived and we are so excited to get the hang of it and start using it right away!  I have an appointment with the DynaVox rep this coming week for training and am hopeful Callie will quickly catch on and be thrilled with this new way of expressing herself.  I will keep you posted!


 

Merry Christmas!

Owen & Callie wish you a very Merry Christmas!