The Highs and Lows...

The first blog I ever wrote was titled The Ride of Our Lives. It was very clear, very early on in Ella's life that she was going to keep us on our toes. I am happy (and I admit, a little frustrated too) to report that she is doing just that.

There are so many emotions we go through. It's the elation over a new word, a glowing review from a teacher, and a clean bill of health that give Jason and me great joy. The highs of life! Then...it's the unknowns that come with chromosome 18, or the constant worry over medications and doses that send us back down. Jason and I have learned to deal with the roller coaster of emotions, for the most part.

We are being tested once again. After a great visit at Children's last week, Ella's lab results tell a bit of a different story. She is still doing great and appears on all fronts to be healthy and happy. I think this is why hearing news that her thyroid and growth hormone levels are very low is so upsetting. The email from the doctor began, "Her labs are a little confusing..." The instant response from Jason and I began, "here we go again..."

It's been almost two years since Ella was diagnosed with hypopituitarism. I would like to think that we have become pretty in-tune to Ella's needs. We can usually tell when she is low. She tends to be tired, irritable, her skin is dry and her appetite wanes. We haven't seen any of these behaviors at all. In fact, Ella has been energetic, growing quickly and very happy. So I guess Dr. Holm's "confusing" is appropriate.

I returned to Children's Saturday morning with Ella to have another round of labs drawn. Fortunately I had made the trip to my parents house for the weekend and just had a short drive to Boston. This means we should have results within a day or two. We have been through this before. Last year, we switched Ella's medication a number of times. The difference this time is the approach Dr. Holm is taking. She is far more reserved when it comes to changes. This is why she ordered more blood work before deciding anything. We are hoping that the latest growth spurt is what's throwing everything off balance. Results to follow....

BIG Jump!

Nine months ago, I am not sure I thought I would be writing this....two years ago, I know I didn't think I would write this....Ella is GROWING, and at light speed!

Stand up TALL!

After struggling with a correct diagnosis and then wrangling with doctors and doses, it seems we have finally found a combination that works great. A combination of not only medicine, but doctors too. Ella had another check-up at Boston's Children's hospital on Friday. The results are still unbelievable to me. Our little Pnut is now 30lbs and 36 inches!!!! This not only bumps her up on the growth curve, it puts her in a much closer range to her peers.

I was not surprised that she has grown. I figured that out when all of her pants were too short, her shirts were creeping up her belly and she jumped from a size 6 shoe to an 8. I just didn't realize how much she has grown. Since her well visit in June, Ella has gained three pounds and two inches. She has put on 10 lbs since January! We celebrated her jump ONTO the growth charts in June when she landed in the 2%. Now she is in the 8.7%....still tiny, but catching up quickly. Jason and I don't care all that much about the numbers and percentages, but it certainly puts it all in perspective.

We had a great visit at Children's. Along with the good news on her growth, it seems we have finally stabilized her thyroid medication. Her doses were changed so often at the end of last year, she went from being too low (hypothyroid) to way, way too high (hyperthyroid). This wreaks havoc on everything (growth, appetite, mood, immune system). Now that Dr. Holm has followed Ella for 9 months and had several consistent blood draws, she feels confident turning her attention more to her growth hormone dose. Ella is getting the highest dose possible for her age and size. The challenge with growth hormone therapy is finding a dose that replaces what the body is not making. We don't want her to grow too fast. The good news is, we may be able to lower her current dose. However, like the thyroid medication, it will have to be done gradually. We will know for sure once the lab results are back. Dr. Holm also ordered a bone age x-ray. Here's another bit of perspective...when Ella had her first bone age x-ray when she was diagnosed (at 18 months), the results showed her bones were the age of a newborn! We should have all the results back later this week.

Perhaps the best news of our visit was to hear the Doctor say Ella is healthy. She is very pleased with her progress, not only her growth, but overall development. As long as all the labs come back normal, we don't have to go back until January.

Cousins! Ella is the "big" girl in every sense now :-)

Stand Up TALL!

Look Mom, I can stand up!

Sometimes it seems like Ella is under a microscope because of all the therapy and doctors visits. So when she makes strides, it's always a celebration. Tonight we are celebrating! Ella can now get herself up to standing without having to pull up on something. It seems like such a natural thing that most kids manage to accomplish with little fanfare. However, for us, this is a goal we have had for a while. In true Ella fashion, she decided tonight was the night and she stood up and walked away like she has been doing it for years. Although I do think she may have even been just a little impressed with herself, since she practiced her new skill in front of the mirror for quite some time.

I love the excitement that I feel EVERY time Ella surprises us. It's almost like she knows when we need a little pick-me-up. While we are by no means sad or upset, there is always a worry. This morning it was the phone call telling us last week's blood work shows her growth factor is low again. Her levels dropped to 36 (normal is over 100). It's an easy fix. We just have to increase her growth hormone dose. In fact, Dr. Gleason says this just shows she is growing quickly and her body needs more of the medicine to continue her great progress. This is something we'll have to deal with and monitor for many years. The hope is that as Ella gets older, she'll be able to recognize when she's not feeling 100% and we can make adjustments accordingly.

So tonight we will boost her shot up a bit...and who knows, standing up on her own today....running tomorrow?!

And The Results Are.....

Six months....5.7 lbs....4 inches....these are Ella's stats from her Endocrinology visit today!

Weighing in October 4, 2011...22.7 lbs

Ella now tips the scales at 22.7 lbs and stands 30.5 inches tall. AMAZING! Today's visit went very well. Ella was happy to show off how much she has grown and developed. Since her last check up in July, Ella has gained 1.7 lbs and grown 1.5 inches. Her growth is still going very well and the growth hormone therapy is working. Dr. Gleason admitted she would have liked to have seen a little more of a weight gain with this visit, but attributes this to all of the activity and walking, etc that Ella is doing now. She's not too concerned about our little skinny minnie. Dr. Gleason did however change her dose a little. She bumped up the shots to keep up with Ella's growth. We also had routine blood work done to check her other hormone levels. Her thyroid medication may actually have to be adjusted as well. Of course, Ella was a trooper in the blood lab. We should have the results back in about a week.

30.5 inches!

Thank you to everyone who wished us well with today's visit. I can't say enough how much the incredible love and support from family and friends means to all of us!

So Long September....

Wow! We are already at the end of September. Where has the month/year gone?! Time flies when you are having fun....and we certainly have had a lot of fun this year. Ella continues to impress us with new things every day. It's hard to I believe that just six months ago we started her growth hormone therapy. The shots have become just a routine part of our day now. The benefits of growth hormone have made such a difference. I really feel it was the best decision we could have ever made for Ella.

I know that kids change so much, so quickly in a year, but I feel like for Ella the changes and growing she has experienced are almost at light speed. Looking at pictures from just six months ago really show how much she has changed....and going back to pictures from last fall, her growth is amazing!

Picking pumpkins last fall...look how tiny she looks. Wow!

We have a BIG appointment with endocrinology on October 4th. Dr. Gleason hasn't seen Ella since July 5th. (I am a little crazy about these dates...each visit marks a milestone in it's own right!) She has definitely grown in height since her last check-up. She even has some too-short pants now! Weight may be another issue. All the height combined with a lot more activity has turned Pnut into a string bean. I'm not overly concerned though since her eating is much, much better now. I really don't think we could ever have imagined one year ago where we would be today.

Catching Up!

"Her progress and growth is remarkable."....that's what Ella's endocrinologist said to us today and it was music to our ears :-)


7/5/11 - Ella on the scale.
9.5 kg translates to 21 lbs!

After just three months on growth hormone Ella has gained 4 lbs and grown 2.4 inches!!! She now tips the scales at 21lbs and is 29 inches tall. Jason and I couldn't be more excited. We had a great check up with the endocrinologist. She feels her "catch-up" growth is right on target and at a pace that Ella is handling very well.


This is a shot of the device they use to measure Ella's height.
It's important to get an accurate measurement.



 All this growing has had a tremendous impact. Ella is a lot more active. In 3 months she has started walking, talking and communicating more, she is more interested in her toys, she sleeps better, and she actually has an appetite. She wouldn't sit still during her exam...and we all had a good laugh about what a difference three months makes.

This is just the beginning. The doctor has told us that it will take about 6 months to see the full effects. We will have another check-up in October. We will also have the results of her blood work in about a week. The doctor will then be able to determine if her dosage stays the same. It's a careful balance, but so far the hormone replacement is working. Big cheers for Pnut!

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!