Miles of Smiles!

Ella has taught me so much. I have learned to appreciate all the things you tend to forget about once you have grown up, because work along with other stuff takes over. I was reminded of this once again this week. Things like, how much fun it can be to ride your bike. Simple things that really made us smile.

Rocking her new glasses!

Riding a bike is a big milestone for so many children. It's celebrated by parents everywhere. Milestones are important. I know this; I get it. I know because I'm not just Ella's mom -- I'm also Avery and Kellen's mom. I am not sure I can put into words how happy Ella's bike riding made Jason and me yesterday. I am not "happier" for Ella, it's a different feeling, a much deeper feeling rooted in our past. I must have watched the video dozens of times. Whenever Ella reaches one of these big milestones, I instantly go back to that day in the NICU. It's all still so clear to me. Hearing the doctor and the genetic councilor tell us that our beautiful little baby's future was bleak. Her chances for walking, talking or even general quality of life automatically diminished by a blood test that showed a complex chromosome re-arrangement. Her diagnosis considered "incompatible with life". If only we could have flashed forward to this day! So many of our worries would have been erased and replaced with hope, inspiration and happiness.

Ella is now in 1st grade. She is doing very well in school. She has adjusted amazingly well and continues to surprise us every day. More than anything, this is very comforting. She keeps up with her siblings, her friends, her classmates. She comes home with great marks on her Friday spelling tests. She gives me a hard time doing homework some nights. (This can be frustrating and also in some strange way just fine. It means she is acting like any other soon to be seven year old.) She has her first soccer practice in a few days. She asked to play...so we signed her up on the 1st grade team. (I can't wait to see her out on the field!) We always strive to make sure she never feels like she can't do something. It may take her a little longer, but she will get there. Ella does everything with a smile on her face and pure happiness.

Her smile was beaming yesterday afternoon. Ella is officially training wheel free!!! She is cruising around the neighborhood on her two-wheeler with all her friends. She has been working on this for a while. She started riding her bike last spring, just about a year ago. Her bike was almost instantly her "happy place". She was all of a sudden 100% keeping up with her peers. She spent hours riding up and down our street, around the cul-de-sac and everywhere she could. Avery decided a few weeks ago that she was too good for training wheels. We took them off and off she went. Everything comes very easy for Avery. For Jason and I, this was a moment full of conflict. We were so proud of Avery and her strong will and desire to do things years beyond her age. We cheered for her, we celebrated the big moment, we shared her video with all our friends and family. It was also a moment where we worried if it would break Ella's spirit. Ella was excited for her little sister, but definitely determined at that point.

I let Ella set the pace. We would work on her bike without the training wheels here and there. I was always willing to help her when she asked. I tried not to push her, because I didn't want her to feel pressured to do it. I wanted this to be Ella's accomplishment, not something she had to do to keep up with Avery. Balance isn't Ella's strong suit. She is also more cautious and careful than her sister and some of her friends. She had some nasty falls, but she never completely gave up. Something sparked her interest again this week and I had a feeling that she was going to get it this time. After a few (maybe 2 or 3) unsuccessful tries yesterday, she was off. She figured out the balance and coordination and hasn't turned back yet. Ella wanted to show EVERYONE her new skills! It was awesome to see the girls riding together. Avery is Ella's biggest cheerleader. She was genuinely excited for her sister. Avery has no idea about any diagnosis or challenges Ella faces. She is too young to understand, but I honestly don't think that will ever matter. They are so close and now they can cruise around together...training wheel free.

May they always have this much
love for one another!

This was just my latest proud mom moment, on so many levels. We can check another childhood achievement off the list for Ella. I am also relishing in the love and support my children have for one another. I am full of gratitude for the therapists, doctors, teachers, family and friends who have helped us along this crazy journey. These are the people who supported, encouraged, counseled, consoled and still cheer with us constantly. This won't be the last time Ella thrills us with her accomplishments. She's our inspiration! Cheers to many more miles of smiles :-)

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.

Hypopitui...what??

Ella helping get ready for her nightly shot.

Hypopituitarism....it's a mouthful, but it was a big piece of the puzzle when it comes to Ella. She was diagnosed in December with hypopituitarism. It's when a person's pituitary gland (the nerve center for our hormones) doesn't work properly. In Ella's case, her pituitary is very small. She doesn't produce enough thyroid or growth hormone. It sounds like a drastic condition, but it is actually very treatable! We are able to treat her with hormone replacement therapy and the results have been fantastic. She takes synthroid every morning with breakfast to regulate her thyroid. She also has to have a shot of growth hormone every night. Jason and I have quickly become mini-medical experts. We mix her nutropin (growth hormone) every other week. We also prepare the medication and administer her shots EVERY night. She is a trooper. In the 3 months that we have been poking her, she has never cried. Sometimes she even sleeps through her shots. It's a testament to how strong this kid really is. She knows the routine and will imitate us as we use hand sanitizer to prep for the shots, she's even started "helping" clean the injection site with the alcohol swabs.

It's really amazing that we are even at this point! We first noticed Ella wasn't growing around her first birthday. She wasn't gaining weight as quickly as our pediatrician would have hoped to see. She sent us for blood work. The first round of tests came back normal, but Jason and I knew something wasn't right. I guess it's just that gut instinct you have as parents. We pushed for more answers. We had already seen so many specialists in the area for a number of different things, always walking away with a clean bill of health. Believe me...we were thrilled that our child is doing so well, but she wasn't growing and that was concerning. Our doctor finally referred us to a pediatric endocrinologist. Our first visit to endocrinology was not good! It was located in the same office as the geneticist (a nightmare experience that will have to be saved for another post). The endocrinologist took down Ella's history and as soon as she heard the chromosome 18 diagnosis, she walked across the hall for a consultation. I remember looking at Jason and we both rolled our eyes. While Ella has this "genetic diagnosis", we also haven't seen any of the grim conditions associated with it. We just wanted the doctor to treat Ella for Ella and not the lengthy and rare diagnosis on paper. The doctors returned from her trip to the genetics office only to tell us that Ella's growth problems were a result of the genetic issues...and that options like growth hormone "probably wouldn't help". We pushed hard for more blood work and xrays.

Less than a week later...the doctor called back. I could tell by the tone in her voice during that phone call that she was taking the concerns that Jason and I had about Ella's growth serious this time. She needed to see us for another visit. Ella's growth hormone levels and thyroid levels were very, very low and she would need to be treated. Jason and I felt vindicated. While no parent ever wants to hear that their child has a health issue, we also stood our ground with the doctor and finally had an answer to our little Pnut's small size.

Ella pushing her babies around the house!

I am more than happy to report that hormone replacement therapy has been a game changer for Ella and for our entire family. She is growing and developing at light speed. It seems like every day she is getting stronger and doing new things. She took her first solo steps the night before her second birthday. She is into everything in our house. She loves to play with her dolls and crayons. She has a MAJOR 2 year old attitude when she doesn't get her way. She has grown several inches and is tipping the scales at 19 pounds. I think she has a new tooth every day and it's a good thing since her appetite is growing too. July 1st marks three months since we started the shots. We have a follow up with endocrinology Tuesday. It's a big day...we'll see exactly how much she has grown and gained!

The Ride Of Our Lives...

When you have a child, you know your life is going to change! I never expected I would be where I am today...and I wouldn't trade it for anything. I am entering the blogosphere at the encouragement of my sister. She says "our story" may be good for other families navigating the world my husband Jason and I were thrown into two years ago. I know, I know...I'm burying the lead...the opposite of all my journalistic instincts, but this story is different than the news that drags me into work at 3:30 am every morning. This is my life.

On June 15, 2009, Ella made her dramatic entrance into this world. We should have known right away that Ella was going to do things her way...and Jason and I were along for the ride of our lives. Our little Pnut was a few weeks early and tipped the scales at just 5 lbs. She had thick black hair and a tiny, tiny cry. It was love at first sight. She was sent up to the NICU for a closer check and a little help eating. Stressful: yes, but a minor bump in the road. When Ella was one week old, that bump became what seemed like a mountain (at the time).

Ella was diagnosed with a chromosome 18 abnormality. The genetics report lists it as mosaicism for monosomy 18p and monosomy for the short arm of 18 as well as trisomy for the long arm of chromosome 18. I remember the day the genetic councilor coldly came into the room and told us the many grim and hopeless statistics. She also said this was very,very rare...in fact, the doctors couldn't find any other cases containing this type of genetic makeup. I googled chromosome 18 issues (scary stuff). I cried and wondered what the future held. Then I put that report aside, buried it in the mounds of hospital paperwork and focused on my baby and doing everything I could for her. Ella went through every test, scan and screening a newborn could go through, brain ultrasounds, spine X-rays, eco-cardigrams, a check of her kidneys, eyes, ears...the list goes on forever. Everything checked out great!

Today Ella is a precocious two year old who continues to amaze us every day. We have learned so much since her birth. Now my hope is that sharing our experiences will help other families facing similar situations. It hasn't always been easy, but through persistence, we have gotten answers. The grim outlook we were given that day in the NICU is NOT the little girl who makes us laugh every day. Ella does not resemble any of the characteristics of chromosome 18. She is happy, healthy and thriving. We have found what we feel is the best situation for Ella's growth and development. We have a great team of doctors and therapists, and the amazing support of family and friends. Now I want to record our journey....for the love of Pnut!