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!)

No Wonder!

To say that I am frustrated with Ella's endocrinologist is an UNDERSTATEMENT! I have been questioning whether her thyroid hormone levels are correct for several months now (actually since June!) I have taken her for at least three blood draws to check and every time, the doctor seemingly brushed me off and said her levels were fine. I called again last week for another blood draw because Ella just seems to be a little off. She is sleeping lots, her skin is super dry (more than just winter dry), and she had a few other signs that I noticed a year ago before she was even diagnosed. At first I was told the results of the latest draw showed her thyroid levels to be borderline...and that they wanted to re-test. 24 hours later I got another phone call from the nurse who was backtracking big time. She said after "thorough review", the doctor decided to increase Ella's synthroid, without doing another blood draw. The history showed a decline in levels and she needs to go to one and a half pills a day...WHAT!! No wonder she hasn't seemed like herself. In one day she went from being borderline low to a significant increase in meds. I am thankful that I was at least persistent in having her tested multiple times. I hate to put her through so many needle sticks, but clearly it is best for her health at this point.

This was the final straw, solidifying my reasoning for heading to Boston for a second opinion. We have another check-up in Albany January 3rd. I am not expecting much from it. We head to Boston Children's hospital January 23rd where I am confident we will get more answers. In the meantime, I am optimistic that the new dose of synthroid will boost Ella's energy. She will hopefully be feeling good just in time for Santa's arrival.

Crazy Busy!

I think this is the longest I have gone with a gap in my blogging. We have been crazy busy! The days are just flying by. It's hard to believe that we are nearing the end of October. In just the past week alone, we've had a trip to the pediatrician, a visit to the ER, meet the teacher night, and a check-up with the developmental pediatrician!

Ella is doing great and proved once again that she is amazing. The developmental pediatrician sees her every six months. He was very impressed with how much strength she has gained and how much more active she is. The last time Dr. Malone saw Ella was February. She wasn't walking or crawling then. She had really just gotten used to the Synthroid (thyroid meds) and hadn't even started the growth hormone. Dr. Malone was the one who really urged us to consider growth hormone. He has seen tremendous results and really felt this would help in Ella's situation. I am soooo glad we took his advice.

Dr. Malone did suggest that we increase Ella's time at school. He thinks she would really benefit from a consistent schedule. We decided to add another day of Toddler group. Ella will love this. At meet the teacher night, she was so excited to show me all the fun things in her classroom. Her teachers were great. They say Ella is a rule follower and doesn't really like when the other kids step out of line! She is also warming up to the other kids a little more too. They say she doesn't like when others invade her space! This will be great practice for pre-school next year. We already registered her in the Rensselaer School District. Time is flying!

Happy Girl! This is the day we registered with
the Rensselaer School District.

Now you're probably wondering about our trip to the ER! Last week, I noticed a rash on Ella and was immediately concerned about MRSA. She contracted MRSA (a staph infection that is resistant to many medications) when she was just a few days old in the NICU. At the time, my little newborn looked like she had chicken pocks all over her body. She was treated with IV antibiotics and the rash eventually cleared up. We had another bout with the "super bug" (as it is commonly known) when she was six months old and we discovered her belly button wasn't healing because of another MRSA infection. This is something she will likely always test positive for and it's hard to understand how she even gets the infection in the first place. The good news is we have found a medication that works to clear up the infection. This time, she had a pretty big sore and the pediatrician wasted no time prescribing the strong meds to clear it up quickly. For some reason, the sore got much worse and by Saturday morning it was almost the size of a nickel and very clearly infected. I took her to the ER, where they drained it. It was a painful procedure since they only used a little numbing cream. Ella was great through the entire thing. A few M+M's right after they were done also seemed to help wash away her tears. Here we are almost a week later and the MRSA seems to be just about gone. Her cut where the soar was is healing nicely. The whole event was much harder on me than Ella I think. She bounced back immediately!

We are getting ready for Halloween now. Ella LOVES her costume! She was so excited to try it on. We probably won't do much trick-or-treating on Monday, but she will get to wear her costume to the big Halloween parade in Woburn. We're going once again this year with many of our cousins. I can't wait to see the kiddos all dressed 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!