Baer: Rare Disease Day 2013

Today is Rare Disease Day and many of you know that my sweet Baer was diagnosed in January of 2010 with Autism and in the spring of 2010 with Pitt-Hopkins Syndrome.  Today I am honoring him and all of his PTHS friends and his classmates and friends who have been diagnosed with a rare disease by posting his picture on facebook and sharing this blog post.  There are only around 200 diagnosis of PTHS in the world.  If you would like to know more about Pitt-Hopkins Syndrome, go check out the new and improved website HERE.

A little about Baer: Baer was born in July of 2007 weighing in at 9 lbs 3.5 oz and 20.5 inches long with 4 nipples and 11 toes.  He had a full head of dark brown/black hair, red skin, and fuzz on his shoulders and arms.  Baer was an easy delivery and was a dream baby.  He was happy, smiley, and beautiful.  None of the names we came to the hospital with for ideas fit him and in a round about way, James (who was then a few weeks from turning 2 years old) named his brother.  When he said we should name him "Bear" Spencer and I agreed that no other name would fit.  We switched the vowels to make it seem like more of a name and gave him my grandfather's middle name.

It wasn't until he wasn't meeting his earlier milestones like sitting up, rolling over, etc that we felt there might be something unique about Baer.  We told his pediatrician about our concerns and she referred up to an early childhood intervention program and Baer started getting therapy a few times a week.  The first few years of Baer's life involved many trips to Children's Mercy Hospital in Kansas City, where we lived at the time, for appointment after appointment to try and figure out what made Baer so unique.  In the meantime, Baer was still a smiley and happy boy and brightened the lives of anyone that took the time to be around him.  Waiting list after waiting list, blood draws, CT scan, eye appointments bi-montly, therapy, GI doctors, foot specialists, and genetics appointments went by and we didn't have a diagnosis.

Many people would ask me why I was so concerned with finding a diagnosis and telling me that it isn't good to put a label on children.  I would reply to them that in my ignorance of Baer's diagnosis, I don't know the best ways to help him achieve his highest degree of growth and happiness in life.  I wanted to know his diagnosis so that I could know the best ways to help him learn and grow.  Those feelings still sit in my heart as I have friends whose children are still undiagnosed and I feel for them

About a month after the boys and I moved back home to Montana to find a house, I got a call from his geneticist who had been continuing testing in Kansas City telling us that they had found an abnormality in the TCF4 gene of Baer's 18th Chromosome.  Baer's TCF4 gene mutated sometime in his development (either the egg or sperm he developed from).  Yes, you heard right....Baer is a mutant!! :)  This syndrome was very new to his geneticist and he asked if Spencer and I could come in for testing.  He wanted to know more about where this mutation came from.  Spencer was graduating in a couple of weeks from Cleveland Chiropractic College in Kansas City so it was going to be perfect timing because I would already be there for his graduation and to move the rest of our belongings home.  The geneticist found nothing in our genetics to connect PTHS to us and he told us that the likelihood of Spencer and I having another child with this same mutation would be extremely low.

Baer started walking at 3 years old...only a couple months after his diagnosis.  Baer is now 5 years old and continues to receive therapy at Pediatric Therapy Clinic and through school.  He LOVES to be tickled and played with, big dogs, WATER, just about any food, nature, sucking on rocks, and music.  He is a blessing we didn't expect in life but I can tell you that I wouldn't wish him to be any other way.  He is loved by every member of our family with a love that you couldn't begin to imagine.

Thank you for taking the time to learn a little more about Baer.  Also, I wish my husband another wonderful journey around the sun as today is the day of his birth.  He is our rock.

Namaste

My Valentine Boys

Valentine's Day came FAST and I realized the day prior to my kids' class parties that we didn't have valentines to give out.  A photographer's solution?  Quick, lets run to the studio!  James wanted to do a valentine where he held his hand out in the picture, punched holes above and below his hand, and stuck an organic lollipop in there.  Admittedly, I would have liked to have taken that shot with a higher f-stop so that his hand was more in focus.  We had to hurry with the shoot because one of the last times Baer was in the studio he managed to make quite the mess so I now limit his studio access time.

Sure enough, Baer was busy as always and I had to bribe him with some Annie's Bunny Crackers to stay on the chair for a few pictures (which is what we stapled to the back of his valentines for his classmates).  I was surprised at how many cute ones we had in the time we took.  The afternoon light was starting to seep in through the window a littler more harshly than I wanted near the end and we called it quits.  Anyway, I may be partial...but aren't they absolutely handsome? 

Below are some more of my favorites.  James had worn a baggy t-shirt to school that day and if you look, you'll notice that both Baer and James are wearing the same shirt for the photos.  James is still bigger than Baer but they are close enough in size they can share shirts sometimes.

Mommy Brag moment: Guess who took the photos of Baer and I together?!?  Yes!  James!!  James loves to take pictures and asked if he could take some of Baer and I.  I slightly reluctantly said yes even though I hadn't showered in a couple days or applied makeup (I may have been wearing mascara but that's all).  I figured he could take a few and the world didn't have to see them.  So take a look because they are really real: my Momma Bear side (minus a photoshopped zit).

I set a large pillow on the (concrete) floor just in case...you know...anything!  He ended up laying on it mostly and shooting up at us which was a neat perspective except for a few I didn't include because my chin looked like there were a few of them!  I briefly reminded him how to use the focus points and to focus on our eyes prior to snapping the shot.  He dreams of becoming a cowboy and owning a ranch, but he'd make a talented photographer too, don't you think?

Namaste

Precious Newborn

It isn't very often I take the opportunity to photograph a newborn baby but I couldn't resist when my husband's CA (chiropractic assistant) contacted me about doing newborn pictures.  I have photographed the mother before and I knew how photogenic she was.  It was a no-brainer that her sweet daughter turned out to be just as beautiful.

I started out in the early afternoon taking some photos in their home, focusing in the nursery area: in the crib, on the changing table, on the rug, etc, etc, etc, and too many to share!  Little baby "H" was so sweet and was such a good sport.  After Dad got home from work, we met at the studio where we took some family pictures and some with Daddy's tattoos.  Here are a few of my favorites, there were lots of them and hard to narrow down.  Enjoy!

Thanks for peeking,

Namaste