Friday, January 12, 2018

When it rains, it pours... (new diagnosis - Neurofibromatosis)

I posted before about some discoloration Savannah had on her leg and arm. It started to spread and she was getting more dark colored spots on her body. They ranged in size from a piece of sand to a dime. Our pediatrician originally thought it was Vitiligo. At the time, I was devastated. My mind went everywhere... Will she be made fun of? Where it will spread to? How bad will it get? How will I help keep her confidence in such a cruel world? Will I be able to help her feel beautiful everyday?

Well, those questions didn't matter because with the darker spots coming, we knew it wasn't Vitiligo. We were referred to a Dermatologist and it was going to be months before the appointment. So, me being me, I went to Doctor Google. I researched for days on end about what she could have. I learned her spots were called cafe-au-lait spots. I learned that they can be basically just birthmarks without other indicators. However, Savannah had the other indicators.

I made the determination she had Neurofibromatosis or McCune-Albright Syndrome. I remembered thinking about how I felt about Vitiligo. I was devastated and now we were looking at major medical issues. It wasn't just a skin pigment disorder. It was something bigger. I researched both and was fairly certain it was Neurofibromatosis. Neurofibromatosis is actually fairly common. 1 in 3,000 have it. Where as, McCune-Albright Syndrome is very rare. She just seemed to have more indicators of Neurofibromatosis, so my money was on that.

I went in alone to the appointment. I was prepared and had my questions ready, but I didn't need them. The Dermatologist and I were on the same page. It was Neurofibromatosis. She had over 10 cafe-au-lait spots in varying sizes. 4 of the spots were larger than 5mm. She has a heart condition, which can be part of Neurofibromatosis as well. She was going to refer us to a Geneticist because she can't be 100% sure if it is Neurofibromatosis at her age.  You don't see the other symptoms until ages 5-8. The genetic testing would tell us if she had it or not.

I didn't cry in the appointment. I was relieved to know what it was. Then, I reached the car. All the thoughts and emotion flooded my head. Did she have NF 1 or NF 2? NF 1 is mild compared to NF 2 and NF 2 is so scary. How am I going to explain to her what she has? How do I explain to the world what she has? Will everyone judge her without getting to know her? Will she be in pain? Will her SVT or HIE make the Neurofibromatosis worse? How will she handle all of this? How will I be strong enough to handle this and be there for her? What did I do in life to make my child have to go through all this pain?

I cried. I cried in that parking lot for an hour. I thought we had dodged a bullet with her HIE. She has been excelling in PT and OT. She is getting better with the bottle. She is the happiest baby ever. And then the rain came... and it just kept pouring.

The Geneticist has a 6-8 month wait. Luckily, Orlando has one of the best Neurofibromatosis clinics in the nation. They will be able to see her in February. She will get a complete work over and we will see what we are dealing with. Is it NF 1 or NF 2? It is still a waiting game though. We won't know until she gets older what she will have from the Neurofibromatosis. Will she have tumors? Will she lose her eyesight? Will she have scoliosis? We will have no idea. The worst part hits during the teen years to early adulthood. The not knowing is horrible... just like with HIE.

Once again, the questions just flood my mind. The what-ifs are killer. However, today though, I am at peace. I watch her on the floor playing and trying to crawl. I hear her laughing and see her smiling. I don't know what the future holds for her medically. However, I know what the future holds for her in our family. She will always be loved. She will always have her mom and dad to try and make her laugh. We will always hug her say "I love you." We will fight over who gets to call her love bug. We will fight for her and her needs. We will do whatever it takes to let her know she is beautiful and the most important person in our lives. Most importantly, that she is loved... more than she will ever know.

- Kate

Tuesday, December 19, 2017

19-20 Week Update

Savannah had been doing really well with spit ups. However, GI wasn't happy with her weight. They had us up the concentration (extra scoops) of formula but keep giving her 28 oz to help gain weight. We tried this for a week and it was awful! She went from spitting up 1-3 times a day to 6-8. We went back to just normal concentration. I ended up buying a scale to weigh her at home. It helps me feel better about her weight and being able to watch it myself. We are giving about 29-30 oz in a day now to help with the weight gain. It is slow but better than it has been so far. Her spit ups are back to where there were before, 1-3 a day.

As far as the bottle goes, we are still trying with every feed. She is still taking about the same. Some days it is more and some days it just sucks. It is what it is and we are just continuing to work at it with her. She is still continuing to go to Speech once a week.

OT and PT are going really well. She is a rolling machine and loves to sleep on her stomach. We are working on moving her legs now when she is doing tummy time. She is moving her right leg a lot (like beginning stages of crawling) but her left isn't doing as much. So we are working on both. She still wears her splints at night and 6 hours during the day due to fisting. She is grabbing a lot but fists when resting or just hanging out.

OT wanted some sensory play with food. We talked to GI and they were ok with it. We haven't done it yet but will soon. We did just let her try some purees. She did ok the first time but gagged and threw up the second. We were only giving 1 spoonful but she just doesn't seem ready yet.

Overall, she is doing well. We are continuing with therapies and just taking everything one day at a time.

Some pictures from the past 2 weeks:

She loves this excersaucer! 

All dressed for our one cold day in Florida!

Loves to hold her bottle (with some help)!

Road trip to see her cousins Christmas program!


Chewing on her banana!


Wednesday, December 6, 2017

4 months old & 16, 17, 18 Week Update!

Savannah was 4 months old on the 27th! It is crazy how much see how grown and changed already!

Things have been so hectic I haven't had a chance to update the blog. 

Here are some of her major updates:

- got her ears pierced 

- rolled over back to front (literally does it all the time now)

- finally rolled over front to back (only done it about 2 times)
- reflux seems to be under control much better (limited amounts of spitting up daily now)
- took almost 6 ounces from the bottle in one day! 
- averaging 1.25 ounces by mouth each feed
- loves to look at books

- met Santa

- had her first Thanksgiving with family

- first real family photos taken (she was the star)!

- tries to hold the bottle at every feed

Extra pictures from the past few weeks:

- Kate

Monday, November 13, 2017

15 Week Update

This week has been... just wow! We have stuck with bolus feeds during the day and the pump at night (and when going out). The spit ups continued so we decided to switch formulas. Savannah is now taking Enfamil Nutramigen. The price tag sucks but we are trying it for 7 days to see how she does. The good news is, she is taking it from a bottle (step 1 accomplished)! Now, we just have to see if her stomach can tolerate it (step 2). As I am writing this update, she just threw up again...

She had her first doctor's appointment for being sick this week. It was so sad to see. She had a fever and we went in. She had been very congested and it was taking a toll on her. They tested her for RSV and the Flu and both were negative. So all we can do is put some saline drops in her nose and try to help with her congestion.  

Sick baby :(

She has been taking less and less from the bottle this week. We think it is due to the congestion though. She is continuing to get her OT, PT, and Speech therapies weekly. I am seeing a lot of improvement with her OT and PT. 

We have noticed some skin discoloration and don't know what it is. It might be vitiligo. We are going to bring it up to her doctor next week. It's on her arm and leg.

Here are some pictures from this week:

So close to rolling over!

Continuing bolus feeding.

Loves to sit up.

- Kate

Friday, November 10, 2017

G-Tube Pump Feeding with the EnterLife Infinity pump

We brought Savannah home at 6 weeks old with a g-tube. We got a quick (literally 2 minute) tutorial from the medical supply company on how to use the pump and we were on our way. I felt ok with it but I was just so ready to have my baby home, I wasn't asking any questions or taking any notes.

We have the EnterLife Infinity Pump. We haven't had any issues with the pump. We got a little backpack with it as well.

- Priming with this pump is so simple! It literally takes 15 seconds to prime the food through and 30 seconds to clean and prime with water. I can make a video on how to set it up if anyone needs help priming without using the pump.
- The EnterLife Infinity pump is so lightweight. The little backpack is perfect for out and about. When we are in the car, the backpack hangs on the clothing hanger in the car (with a mommy hook). When we are out and about, we just hook it to the handle of the stroller (with a mommy hook). It is nice that it is so tiny that if Savannah still needs it when she is older, she can wear it on her back without an issue.

Cons/ Things to get used to:
-The only complaint I have is that if I put in 4 ounces of food, the pump doesn't get her all 4 ounces. It seems about 15-20ml will stay in the tubing. I can't prime it into her because it just goes too fast her stomach can't handle it. I also can't prime it into a cup because sometimes it won't come out! It just skips and nothing comes out. I have learned to adjust and add a little bit more to make sure she gets her full 4 ounces.
- One of the hardest things was figuring out how to get the feeding bag into the backpack in the most efficient way. My husband figured it out and now it is a breeze! I can make a video on how to do this as well.

It can be daunting, leaving the hospital and truly not knowing how life will be. However, it gets easier. It becomes second nature. Hang in there! You will get the hang of all of it!

If you have any other questions, or want some videos, let me know!

- Kate

Tuesday, November 7, 2017

14 Week Update

It was her first Halloween. She had multiple outfit changes (thanks reflux)! She loved her flamingo costume.

This week has been crazy! Savannah is going through Leap 3 and it has been a rough week. Josh was out of town for work and we were on our own. Her reflux got worse and she was inconsolable for most of the afternoon and evenings. I have never seen her reflux like this (projectile vomiting). She is hating having to eat for 2 hours and then sit for 30 minutes. She is at the age now that she is trying to roll over and wants more stimulation. So, I started bolus feeding with her when we are at home. I will do a post about it and explain how it is going.

She had to get updated blood work to check her calcium levels. We are continuing to stick with the Similac Advance formula, unless Endocrine says no due to her calcium levels. She is tolerating it ok by mouth and the g-tube.

She is continuing weekly PT and OT. She had her first Speech therapy session this week. I am a little iffy with them but it is early and I need to have an open mind.

She is so close to rolling over. She also loves to have something in her hands at all times. She loves her caterpillar, taggie blanket, and rings.

We also left her for the first time! We went to my friend's wedding and I was terrified to leave her for a few hours. Of course, she was fine. My dad and stepmom watched Savannah. I may have went overboard with my 5 papers of directions! It was nice to have a night out with just Josh and I though!

Here are some pictures from the week:

Sleeping with her puppy Lacey.

Sleeping again!

Tummy time!

Look at those eyelashes!


Sunday, October 29, 2017

3 months old!

Savannah was 3 months old on Thursday.

Her monthly picture was so cute! I had so many great ones to choose from. She was so happy yesterday. I will post some extra cute ones below!

She has started her OT and PT. She is doing well. We have homework to work on and she loves. The hardest part is getting in enough tummy time due to her feeding schedule. We are stuck with the Similac Advance formula and it seems to be doing better for her tummy. However, it is hit or miss if she will take it from a bottle and that is a big problem. We have stopped the Nexium for a few days. She wasn't responding well to it at all. In the end, we need her to tolerate it and take it from a bottle. She is so close to rolling over. She tries so hard and it almost there.

Extra pictures from her 3 month photoshoot! 

Pictures from the week...

- Kate