Thursday, May 16, 2013

Skip To My Lou


I can hardly believe that Ella's weekly ballet classes are winding down. Her big recital actually falls on her 4th birthday. What an exciting day! It seems like just yesterday that I brought her to her first class. That day that I couldn't even watch the whole 45 minutes without a break to cry in the bathroom. We have come so, so far from that first day....both Ella and I. I really enjoy getting to see her development and meet the moms in the class. Ella has learned a lot and I have seen her get a lot stronger. It has turned into a very nice group and I am sad to see it come to an end for the summer.  Ella also seems to enjoy class every week. She always smiles and she has met some very sweet little girls. She is not the most coordinated or graceful. Many times she can't do as much as the other kids, but she always gives it her all. 

This week in class the girls were learning  to skip and sashay. Many of the moves take quite a bit of coordination...something Ella lacks. She couldn't really do it. You would never know by looking at her face. She smiled from ear to ear, giggled with the other girls and proudly waved to me as she walk/ran/slid/hopped across the floor. She poured her heart into it, gave it her all. She was blissfully unaware of any difference. In fact, not one other little girl seemed to think Ella was any different. My heart melted. Isn't that what it's all about? Giving your all and feeling good about yourself. At least when you are almost 4, that should be what it's all about. 

The whole night has me thinking a lot. First and foremost, I am grateful. When we were given Ella's genetic diagnosis in the NICU, it was devastating. The genetic councilor had horrible bedside manner and coldly and scientifically delivered the worst news Jason and I had ever heard. The words mentally retarded still haunt me. I guess any genetic disorder has quite a  wide range of severity in its features but I feel like chromosome 18p deletion must top them all.  This genetic condition that Ella has ranges from being normal to having brain structure abnormalities so bad that the baby would be born with one eye.  Ella has two beautiful eyes. :-) She might not be able to skip yet, but SHE WILL. She will do so much more and I promise to be there to cheer her on every step of the way. In a few weeks, Jason and I will be front and center at the recital. We will be the proudest parents in that crowd as we watch her perform. I don't care if she misses a beat or even stands there and only smiles for the three minute performance. Just being on that stage she has far proven that geneticists and scientist don't really have all the answers.

Monday, May 13, 2013

Happy Birthday Avery!

Dear Avery,

Today you turn the big 1! I can not believe how fast this year went by. You made quite the entrance last year on Memorial Day weekend, surprising your Dad and me as a May baby. We couldn't have been happier on that night to welcome you into our family. You have kept us on our toes ever since. You are a little girl with a BIG personality. You are beautiful, with the most stunning, big, blue eyes. You are a happy girl, greeting us with a smile when we rescue you from your crib every morning. You also have a fierce attitude. If you don't agree with something, you certainly let us know. You found your voice very early, and are always ready to give us an "earful" (even if we can't understand you yet!)

We thought we knew a lot about having a little girl, but you have proven us wrong in so many ways. You couldn't be more opposite of your sister, yet you compliment each other so well. We love to see you looking up to Ella and so eager to play with her and Lucy. Don't worry, some day they will (have to) include you. For now, continue to be that little nudge!

Don't lose your tenacity and determination. You will figure out that iphone soon! Also, keep showing us that we don't have this parenting thing down pat quite yet. You wouldn't want us to get too comfortable.

Daddy and I wish you a happy first birthday. We can't wait to see what you are up to next. Maybe you'll even get a few teeth soon ;-) Until then, we know you will have no problem enjoying your cake. We love you!

Children's Check-Up

Thumbs up for a good check-up!
Ella had her four month check-up at Boston Children's hospital last Friday. This visit marks 18 months since we switched to Dr. Holm. We have made a lot of adjustments on medications and doses and we are finally seeing the benefits of those changes. Dr. Holm has been very deliberate and diligent with Ella's medication. When we first met with her in January 2012, she explained to us how small changes can make a big difference. We have seen the results of rapid medication changes to her health. It is not good. At times it seems like we have been on a slow pace and little change, TIME to adjust to the proper dose has proven to be the most effective approach.

We were excited to learn that for the first time, Ella's levels are perfectly normal. Her T4 and TSH (both thyroid hormone) as well as her growth factor all register right in the middle of the normal range. She gained 4lbs and grew more than an inch since January. So as we approach her 4th birthday she is 34 lbs and 36 inches and finally wearing 4T clothes. This would certainly explain her recent need for a whole new wardrobe!

Ella is still on a pretty high dose of growth hormone, but the plan is to let her continue to grow into this dose. She is responding very well and catching up. She jumped from the 11% on the growth charts to the 18%....all of this since January! When Ella was first diagnosed with hypopituitarism, she was not on the growth chart. That initial diagnosis also came with disheartening news at the time that there was "nothing we could do" to help her grow and that growth hormone "probably wouldn't help" (quotes from our endocrinologist at the time). It is gratifying to know that sticking with my intuition and remaining dedicated to finding help for Ella has paid off.

We return to Dr. Holm in September. We will have her annual bone age x-ray and a complete lab work up. If all goes well, we may be able to bump her visits to every 6 months!

Tuesday, May 7, 2013

Good Medicine

Avery is always looking up to her
big sister!

Since the day Ella was born we have done everything we can to help her thrive and succeed. She has seen dozens of specialists and therapists. At times it seems as if life is a revolving door of doctor's offices, lab tests and medication. It's exhausting, but you will not hear me complain. Everything we have done for nearly four years now has been so helpful. Jason and I are forever grateful for the team of early intervention therapists who did so much to help Ella learn to eat, crawl, walk, sign and talk. We are also incredibly fortunate to have an excellent team of teachers and therapists now. Jessica, Renee, Heather, Emily, Erin, and Yvonne truly want to see Ella accomplish new things. They are on top of everything and are constantly making sure what they are doing is tailored to Ella.

Double trouble in the supermarket

We have also discovered what may be Ella's best "medicine" yet....her little sister, Avery! Now that Avery is nearly a year old, she is into everything. She also wants to be doing everything just like her sister. There are pros and cons to all of this. Your typical sibling rivalry is certainly emerging in our house. If one girl is sitting with Daddy, the other one is surely climbing right up on his lap too. What one girl has, the other wants (usually immediately!) Sometimes this tit for tat back and forth erupts in tears and tantrums. More often than not though we are seeing a more positive side effect.

The girls motivate each other. Avery studies Ella's every move. She tries to copy her every chance she gets. On the flip-side, Ella is trying to keep ahead of the daily changes and advances of her baby sister. Gone are the days where Avery stays put. Avery is lightening fast. She can make it up our stairs (all 15 of them) in a matter of seconds. Ella is a lot more cautious and her muscles tire a little faster. She usually takes her time making it up and down, but now she does NOT want her sister to beat her. She has really "stepped up" her game. Avery is also pretty vocal and Ella has taken note. I am not sure if its coincidence or competition, but Ella is putting bigger sentences together, with clearer words. She is even using some of this new language to put her sister in her place. "No, no Aves" with a finger waving is a common phrase these days. We are working through some other side effects of being siblings. We have seen some regression and some actions (potty time trouble and bed time drama are the most noticeable) from Ella. I imagine it is all an effort to try and get a little attention or at the very least deflect attention from Avery. Constant reminders that Ella is a "big girl" has helped.

Soon Avery will be walking and talking real words and sentences. There will likely be things that she will be able to do better than Ella and faster than Ella. That reality is soon. Jason and I have talked about it a little, but it's more of an unspoken understanding too. It comes with mixed emotions and feelings that are hard to express in writing. But we live in the present and we look toward the future with optimism.