Tall and Skinny

It's been a busy week getting back into our routine after the holiday's. We had a check-up with Endocrinology on top of everything yesterday. I have been anxiously anticipating this visit for a few weeks now, but not because I was so curious about Ella's gains. I have been going back and forth with the doctor since before Christmas about changes to Ella's meds and some other issues I feel they have overlooked. I need her records to take to Children's Hospital in a few weeks and it seems all of a sudden the doctors here in Albany want to be extra vigilant. I appreciate the efforts, however this is the way I feel we should have been treated from the beginning. I am constantly calling for lab results and expressing my concerns about every little issue. I understand they see several patients, but I also think they are not doing their job well when I can't even get a phone call to let me know that my daughter's blood work shows her levels are low and her medicine doses need to be adjusted significantly!

Okay rant over (for now) -- As for yesterday's appointment, it was overall positive. I have seen some improvements in Ella since we increased her Synthroid and growth hormone doses. She has more energy, her skin is getting better, and she is coping with things more appropriately. She now stands at 32.5 inches tall....a jump of 2 inches in just three months! We are all very happy to see such gains. I knew she grew. She certainly looks much taller and she can get into more trouble (like pulling plates off the counter and opening doors on her own!) Her weight is another issue. We affectionately refer to her as our little rack of ribs these days. She weighs 23 lbs...a gain of only 3 ounces in three months. This too was an expected outcome. She is a skinny kid. It's not for lack of trying. She eats pretty well and we are constantly feeding her snacks throughout the day. Part of the issue may be from the fact that her meds were off for a bit. The other issue is the jump in height. She is growing so quickly that it is hard to pack on the pounds (I wish I had that problem these days, haha!) Dr. Gleason was not concerned. Ella is finally sneaking on to the growth charts in the 1% range these days.

We head to Boston in a few weeks for a consultation with Dr. Holm and Dr. Hirschorn. Hopefully we'll get some more answers. In the meantime, ice cream sundaes for everyone to celebrate progress (and maybe fatten Pnut up!)

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!