Alex and Maddy

Alex and Maddy

Wednesday, January 7, 2015

Maddy Update

This is an update I prayed I would never have to write. We met with Dr. Koenig yesterday morning to go over the results of the brain MRI. The MRI was normal, however at this point Maddy meets criteria for a "definite Mitochondrial Disease".  I have considered the possibility as Maddy has had some health concerns, but I thought there would be more testing. I did not realize she already met the diagnostic criteria. I am sad, but ok. Our children have totally different presentations and we will treat them as individuals. I know we will (and are) intervening much quicker with Maddy so hopefully she will not have to face all the struggles Alex has.

We spent the rest of the appt discussing the neurologic concerns with Maddy's development. Her brain is fine. There is a discrepancy between the development of her upper and lower extremities. Dr. Koenig said there are some definite problems from a neurologists perspective. The way Mad holds hers legs, their movement, the reflexes, etc are not normal. The next step is to do a spine MRI. If that does not give any answers we will have to look at nerve function. In the meantime, we are to continue PT.

I have not received any results on the bone marrow biopsy yet, but Dr. Koenig feels like the hematology issues are definitely related to the bigger picture.

On the bright side, Maddy did really well with the procedure and is happy to be home. She is a little sore, but playing and smiling. Alex was so good during the trip which was so helpful for me.

Please pray for my precious children and their health. Please pray for peace and for my mama's hurt that is hurting at what my babies have to endure.

Ali

Sunday, December 21, 2014

HUGE Maddy Update!

It has been a really fun and crazy few weeks. Mimi flew in on December 12th for 5 days. It was a short trip, but we had so much fun! Mimi got to spend so much time with the kids just loving on them. She got to really enjoy Maddy and see her spunky little personality. It was so nice for me to have a second pair of hands with my "Mama's girl" for a few days. For 10 years I have loved watching the incredible relationship grow between Alex and my Mom. They have such a special, close relationship. Bug will always be, Mimi's boy. It was so neat for me to watch the love and closeness grow between Mimi and Maddy this trip. We cannot wait till March!




The day after Mom left, Dad flew in! We are busy getting last minute things done for Christmas and cooking some of our favorite home cooked meals.

On to Maddy... On December 4th, during Alex's GI apt, Dr. O and I got talking about Maddy's size. he was concerned by the amount of food she was eating and still not gaining weight. He gave me some samples of a formula meant for kids with trouble absorbing and asked me to schedule her for an appt. Surprisingly, she started drinking the formula right away with no problems. We were able to get an appt 1 week later. So on the 11th, we had her first "real" apt with our GI. He was not happy with how far down the growth chart she has fallen and that she is not gaining despite adequate calories. he was really happy she was drinking the formula. He is concerned that she has malabsorption. He had us do some tests to figure out if that is what is going on. He also mentioned if the tests confirm his suspicion he will want us to rule out a disorder that has malabsorption and neutropenia as its defining symptoms.

However, incredibly once we started the formula Maddy made HUGE strides in Physical Therapy. Like leaps and bounds. Total 180! If you look back at my last update she really had not accomplished any skills. Two weeks after starting formula, she is now rolling back to front and front to back. She is CRAWLING!!!! She went from not even being able to maintain on her hands and knees to crawling!!!! She is still not weight bearing, but we are so hopeful that the extra nutrition will continue to help her improve.


The day Mimi was flying in, Maddy woke up with a fever. Per our protocol, I called hematology. we had to head into the ER. We were so impressed with the way Cook's cared for Maddy and so thankful for the well organized protocols hem/onc has in place. We never even stepped foot in the waiting room (they had us enter a back entrance). They started an iv, drew labs, gave fluids and a dose of IV antibiotics and we were home 5 hours later (in time to pick up Mimi)! We followed up with hematology this week. They are both happy and unhappy with how she is doing. overall, she is doing great. However, they would have liked her counts to come up higher with a fever. Her neutrophils went from 20 to 800 which is a huge improvement, but they expect/hope for them to at least come over 1000 (1500 and higher is normal). Unfortunately, her counts were back to 30 on Thursday.  In light of this response and some other inconsistencies with her original diagnosis, they are trying to get a bone marrow biopsy added on to her MRI in January. This is not a small feat considering her hematologist is in Fort Worth and the MRI is taking place in Houston! Luckily, we have some good contacts/doctors in Houston who are trying to pull it together.

I think that is all for now. We are hoping for a calm, peaceful end to our year!
Ali

Saturday, December 6, 2014

Incredible Month

What a busy crazy, fun month it has been!

We started off November celebrating Maddy's first birthday with her little friends and some of the important people in our life. We enjoyed showering our little girl with love and she had so much fun at her Kindermusik party!  Aunt Jenn-Jenn got to come and spend some time with the kids too which was fun. We also got some girl time shopping, getting pedicures and going out to dinner! As soon as Maddy's party was done my focus changed gears and we prepared for our first family vacation in a long time. Earlier this year I realized it was incredibly important to me that we have memories with the kids from vacations. We have not had a family vacation (that was not visiting extended family) since Alex's Make-a Wish trip. I set about planning a trip to Disney and Universal. Bruce can tell you, Alex and I were just a tab bit excited as it is all we talked about! On November 15th, we took off for a week in Orlando! I cannot begin to tell you how incredible this week was. Both kids had such an amazing time and Bruce and I did too! I had so many pictures (shocking, I know!) I couldn't decide which ones to post. I could go on for days about all the fun we had, but I'll just share pics instead!
Hogsmeade
 

Hogwarts Express
 

The Castle was GORGEOUS!
 

Hogwarts

The dragon on Gringott's Bank

Alex with the Wandkeeper at Ollivanders

Animal Kingdom

Animal Kingdom


Epcot


Magic Kingdom

Hollywood Studios

 
 
We cannot wait to go back! As you can imagine, we came home exhausted! I was glad to have a quiet Thanksgiving and a slow week to recoup!
 
 
I have had a few people ask where we are medically...
 
Alex- Overall, Alex continues to experience the most stable time of his life. We are still learning to manage his Adrenal Insufficiency. It can be dangerous (life threatening) and make him feel awful so we are learning how to adjust his medication in different situations to help him. Otherwise, we are keeping things pretty much status quo. There just is not much we can change at this point without major interventions that we are not willing to consider at this time. He amazes me daily with his strength and bravery. His life is so hard in so many ways, but he chooses to be joyful. He blesses everyone he meets with his huge personality and fun-loving spirit.
 
Maddy- Oh, my Maddy Moo. She is such a character. Anyone who has spent time with us will tell you she is not lacking in personality either. If it is possible to be a drama queen at 13 months, that would be my girl.  She is sweet and loves to cuddle, but she has a fiery temper and lets you know when she is not happy. She has started putting her hands on her head and throwing her head down on the ground when she is really upset! She packs a punch for such a tiny little thing. She is itty bitty at only 16 lbs, but she has enough personality for someone much bigger! We are still trying to figure her out medically. Her hematology counts are HORRIBLE. (Last check her neutrophils were 20 when they should be over 1500), but she is holding her own. Our biggest struggle right now is developmentally. She is severely delayed. She is still not able to roll belly to back, she can't crawl or even get on her hands and knees, she doesn't bear weight on her legs without assistance. For the last several months we have been doing physical therapy twice a week. I am trying not to look at the big picture, but instead focus on the progress she has made. We will be traveling to Houston in January to have an MRI of her brain to see if that gives any answers. In every other way she is developing right on track. She is so smart! She is starting to talk. She actually talks non-stop. But we understand about 10 words. ;) She is loving Christmas and especially the "pretty trees".
 
Alex and Maddy continue to be as close as possible. They would choose to be together every minute if they could. Alex is the MOST patient older brother. Maddy adores him and lights up when she sees him.
 
Thanks for reading, if you made it this far!
I wish everyone the happiest of Holiday Seasons!
Ali