Evan's first Christmas!

Evan's first Christmas was a success! Uncle Jimmy (my brother) came to town on Wednesday and we could not have been more excited to have him come to visit us for the holiday! On Friday evening we had a few friends over for dinner to celebrate an early Christmas dinner. Lots of kids and friends so it was a busy holiday house! Absolutely loved it! Christmas eve was calm and uneventful. We went out to dinner and just enjoyed hanging out together. Christmas was nice and relaxing...not something I am used to since I am used to being around lots of people and going to at least 2 different houses to celebrate the holiday.  We opened gifts in the morning. Evan got lots of new toys: a riding/walking car, a ball popper, a ride on train, a wagon, books, a 3 in 1 trike, and lots more! He definitely enjoyed his new toys. As for opening gifts, that was a first for him. He wasn't too excited about it, but once he saw toys underneath the paper he was definitely interested. By the end he seemed to tear the paper a bit more and was more excited to play with each new toy.

My breakfast casserole was a flop :( I guess that's what I get for trying something new on Christmas morning.Oh well...we got a good laugh out of it!

Monday brought on an interesting day. Evan had been fussy and not eating as well for a couple of days, but he was eating. We think he's growing more teeth. By Monday, he was SCREAMING at food (which he loves) and wanted nothing to do with the bottle. We got some cereal and apple sauce into him and only 8 ounces of formula by 4:00 pm. We decided enough was enough and took him to the ER after talking to his geneticist. They admitted us overnight just to watch and make sure Evan wasn't getting sick. After about 5 hours on the IV of D10 (sugars) he was much happier and started to eat better. By the next morning he was back to taking 6 ounce bottles so we were released that afternoon. It's never any fun being in the hospital, but at least we were only there a day and Evan seems to be doing much better now!

Only a few more days and we will ring in the new year! It's crazy to look back on this year and think about the changes in our life and the many things we have learned. It's been an eventful and emotional year, but we are all doing well! We are looking ahead to 2012 and the many things we will encounter. Most likely Evan will have a liver transplant by the middle of the year (if not much sooner) and this, again, will bring on a new way of life for us all. We will no longer be fighting MSUD on a daily basis, but we will be managing on monitoring Evan's liver to make sure that he is not rejecting and is on the right meds. It's amazing to think of how far we have come, but how far we still have to go. As of today we have 21 days until Evan can accept a liver...it is also 21 days until he will be listed at Status 1B which will bring him closer to his new liver and his new lifestyle. We continue to pray each day that he stays healthy and eats well.  With the many feeding issues we have seen over the course of the last nine months, we are praying that we can get him transplanted before he says enough is enough and needs a G tube.  (Not uncommon in children with MSUD who refuse to eat).  We have spoken to families and doctors and know of children who almost immediately following transplant completely change their feeding habits. We are praying this is also the case with Evan as feedings have been one of the biggest challenges that we face.

Oh 2012...what do you hold for us? We pray it's all good! And we pray that all our friends and family have a blessed, happy, and healthy 2012 as well!

Why transplant?

Many people have asked us why we are choosing to transplant or how a transplant will help Evan. It has been a very difficult and very personal decision for JR and I. We have done much research and talked with many families and feel that this is going to give Evan the BEST quality of life!
I am going to share with you an article I read that explains in fairly simple terms the risks of MSUD and the benefits of a liver transplant to cure the metabolic symptoms of MSUD. This article was written in 2006, but the information is still valid. There are more articles out there, but this one really explains it well. If you prefer to read it on its own website, here is the link: http://www.sciencedaily.com/releases/2006/04/060410161437.htm

Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease

ScienceDaily (Apr. 10, 2006) — Liver transplants cured the metabolic symptoms of 11 patients with a rare but devastating genetic condition known as Maple Syrup Urine Disease (MSUD), according to a study by researchers from Children's Hospital of Pittsburgh and the Clinic for Special Children.

All patients from the study (ranging in age from 1-20) are alive and well with normal liver function, according to the researchers. Amino acid levels in the study patients stabilized within 6-12 hours of transplant and remained stable since transplant despite unrestricted intake of protein.

MSUD is a metabolic disease which causes amino acids from proteins to accumulate in the body. The disease gets its names from the sweet smell of the urine. The accumulation of amino acids in the blood can cause metabolic crisis at any age, which can lead to brain swelling, stroke and even sudden death. Over a patient's lifetime, chronic instability of blood amino acids can result in serious learning disabilities and mental illness.

Before transplant, the only treatment was strict adherence to a diet almost devoid of protein. Despite adherence to this diet, patients were still at risk of metabolic crisis from something as simple as a common cold, which can disrupt the body's metabolism and cause rapid neurological deterioration.

In 1997, an MSUD patient at another hospital received a liver transplant due to an unrelated medical condition and physicians noticed the symptoms of her MSUD were alleviated.

Based on this serendipitous result, physicians from Children's and the Clinic for Special Children, located in Strasburg, Pa., began working collaboratively to develop a liver transplant protocol for MSUD which optimized patient safety. With a comprehensive, multidisciplinary protocol established, Children's transplant surgeons began performing liver transplants on MSUD patients in May 2004. Children's has performed 18 MSUD liver transplants since then.

The study by Children's and the Clinic for Special Children involved 11 of these MSUD patients, including the original patient. Results of the study are published in the March issue of the American Journal of Transplantation.

"The development of liver transplantation as a treatment for MSUD has dramatically improved our patients' quality of life," said George V. Mazariegos, director of Pediatric Transplantation at Children's and one of the study authors. "Our MSUD patients and their families had lived in fear of everything from a chicken nugget to a common cold. Liver transplantation is not without risks, but for some patients, it is the best option and it has allowed these recipients and their families to live without fear of simple things most people take for granted."

Kevin A. Strauss, MD, a pediatrician at the Clinic for Special Children and a co-author of the study, said that over the past 15-20 years, early diagnosis of MSUD followed by careful nutritional therapy have improved the health and developmental outcome of affected individuals.

"Nevertheless, the risk for metabolic crisis and acute neurological injury is always present, and many older individuals with MSUD suffer from depression, anxiety, and impaired concentration and learning," Dr. Strauss said. "Liver transplantation protects patients from these acute and chronic neurological complications. It is a reasonable alternative to nutritional therapy, particularly for patients with poor access to specialized medical care. However, liver transplantation is not without serious risks, and decisions about the best course of therapy will vary on an individual basis."

For more information on Children's transplant program and its MSUD transplant protocol, please visit www.chp.edu.

It's Official

Evan is ON the transplant list! We got the call a couple of hours ago! I am still so amazed at how quickly this process is going! As I believe I have posted previously, Evan will be listed with a score of 30 out of 40 for the first 30 days. Once he has been on the list for 30 days, he will be bumped up to a Status 1B which is the 2nd highest status for a pediatric transplant patient.  Once he is on status 1B we will hopefully get "The Call" fairly quickly. The transplant team seems quite confident that it will not be a long wait. The longest they have waited for another child was 6 months, but usually they transplant within 4 months of listing.

So far so good! We are so blessed to have had such a smooth road so far.  As much as I feel blessed, I am waiting for the other shoe to fall. I worry that we will hit some snag or something will change.

But for today, for right now at least, I feel so positive! Thank you again to all of you for your continued support! The REAL wait has officially begun!

My new favorite word.....

APPROVED!!!!

I just found out (through the TriCare website) that Evan's liver transplant has been approved! We are beyond thrilled! He has had his immunizations, his blood tests are done, he has a liver ultrasound tomorrow, the insurance is working out the plan for transportation and he will be listed! Wow! This process has gone much smoother than we ever anticipated.

A special thank you to the families before us who have paved the way and spent endless hours fighting with their insurance companies to approve liver transplant for MSUD. Without you, our experience would likely have been much different than it has been.

Now the real waiting is going to begin!

Wishing you all a Merry Merry Christmas! We definitely got our Christmas present from TriCare(just a few days early)!

"Pending Review"

That's the status of Evan's insurance approval for his transplant.  It's normal...it's what happens any time a referral has been submitted and needs to be reviewed to determine eligibility for coverage. However, for some odd reason those words make me anxious and almost sick to my stomach. The insurance holds my son's fate in its hands. That is such a scary thought! Of course if for some reason they deny coverage, we will appeal and will eventually find a way to have them cover his transplant. We wouldn't be the first family to fight for it. I just pray we don't have to! The insurance usually has 5-7 days to process a referral and make a decision. That means in about a week or so I will be able to update you all and tell you what they say. Hopefully before Christmas, but if not, shortly after.

Please pray that they approve it and we don't have to fight! That would be the only Christmas present we'd really want this Christmas.

Wow! What a difference!

On Monday we had an appointment with Evan's genetics team..the geneticist, dietician, and genetics counselor.  JR and I had talked about all the fighting Evan has been doing with the bottle and agreed we needed to work on getting him to eat more food so he wouldn't have to drink as much formula.  Like all babies, he still needs his formula and like all MSUD patients, he still needs his formula. We're not talking cutting out formula, but we are talking about allowing him more protein from food instead of from formula which also means he doesn't exactly have to have 32 ounces of formula per day. 
We brought this all to the attention of Evan's dietician and worked together on a plan. The plan is to allow him a larger portion of his protein from foods and to decrease the enfamil in his formula.  Also, she assured me that he didn't have to have all 23 ounces of his MSUD formula as long as he got his enfamil and his food protein. He still needs his MSUD formula, but it doesn't have to be exactly 23 ounces of it. 

So..we started the new plan yesterday and he did well. He had cereal in the morning with a 6 ounce bottle, peas at lunch time with a 6 ounce bottle, and then 2 more 6 ounce bottles. Today, we accomplished what I was hoping....3 meals of food and 4 bottles. (Well..I am assuming 4 bottles because he is going to need one before bed and it's only 4:00 here).  So far he has eaten his allowance of leucine by food. He had cereal for breakfast, peas for lunch, and just a little while ago he had squash.  He's eaten all of these before, but not on the same day and definitely not 3 meals of food in one day! Boy what a difference! He WANTS his bottles after his food! He is opening his mouth for the spoon and then later for his bottles. He's hungry! :)  He has had his 3 meals, 2 6 ounce bottles, and one 8 ounce bottle, and he will have another bottle tonight before bed. I am SO thrilled because for the last 2 days feeding him has not been a fight. It feels almost... dare I say it....normal!

If Evan didn't have MSUD I probably would have been able to get him eating like this a lot sooner. I wouldn't have been pushing the formula the way I was and I would have pushed more foods sooner. However...he DOES have MSUD and I have been doing what I am told. Now, I am finally listening to him and working with the doctors to give him what HE wants, not what they want him to have. Of course he is still only getting what he's allowed to have, but he's getting it in the way he wants it, not how WE felt like giving it to him.  It's so amazing now that we are listening to his cues more! :)

To update on the transplant, we are still waiting on insurance approval. We got the letter to have his live vaccines given to him next week and shortly after that he should be listed.  Please keep praying that the insurance approves his transplant!

Upper GI and Swallow Study

Evan finally had an upper GI and swallow study because of his horrible reflux.  Good news is he is swallowing okay. The bad news is that he sometimes aspirates when he is swallowing. For those who don't know, that means that the milk sometimes goes into his airway instead of his esophagus. The fact that he hasn't had a sever upper respiratory infection like pneumonia or bronchitis means that he is at least expelling most of what he aspiraites.  To help fix the problem, they are having us thicken Evan's formula so it doesn't go in his airway. Of course, since he can't have a lot of rice cereal, we have to use something else to thicken it. They recommended something called Simply Thick. Of course, it's only sold in 1 store in town and is not cheap.  Of course Evan is worth it! It's just frustrating!  We have started it today and so far so good. Hopefully he continues to do better and better with it. Aspiration in a child with reflux is not uncommon and hopefully his reflux continues to get better on its own as it does with most children.

The speech pathologist also said Evan has a slight tongue tie. Hopefully it doesn't cause a huge issue or he may need to have his tie cut shorter. (Not a major surgery, but still could need to be done).

I had a break down today because I felt like nothing was going right, but my amazing husband, friends and family reminded me that I am a great mom and doing everything I can for our little man!

College Acceptance

Most people don't pray for college acceptance for their kids until they are about 17 years old or so. However...we are pleased to announce that Evan has been accepted to Stanford University! Okay...so, he's not a student, but he's still been accepted!

Our trip to Lucile Packard Children's hospital at Stanford University was a huge success. Evan did great traveling and we met with the genetics and liver transplant teams. Dr Enns, the geneticist, fully believes that transplant is the way to go when it comes to classic MSUD. He really believes the benefits of transplant outweigh the risks of MSUD.  Especially since MSUD is completely unpredictable.

Our talks with the members of the transplant team were great as well. They were very thorough in helping us to understand the risks and benefits of transplant.  They are confident and knowledgeable all while being friendly and kind. Evan just absolutely fell in love with one of the surgeons. He just snuggled her for a good 20 minutes as we talked with one of the lead surgeons. Her tenderness was exactly what I needed to see to know that this team would take good care of Evan...not as just another patient, but as our baby! 

The transplant coordinator, Marcia, was fantastic. She answered questions and gave us more information than we anticipated. She is going to be our guide through the ins and outs of this process. She will make sure we get them everything they need and she will be the voice we hear on the other end of the phone when we get "The Call!" 

She called yesterday to let us know that the team had presented Evan and made a decision to approve him for transplant! There are still some things that need to be done before he is officially listed. He will need to have an ultrasound done as well as a few more blood tests. He will also be getting his MMR and Chicken pox immunizations on his 9 month birthday (December 19).  Once all of that is done and the insurance approves everything *FINGERS CROSSED* then Evan will be listed. 

Evan will be listed with a PELD score of 30 (40 being highest need). After 30 days with that score, he will be bumped up to Status 1B...which is the second highest category for need. The transplant team has said that once he reaches Status 1B they should get calls for available livers and once they decide a liver is the perfect match we will get "The Call". They don't anticipate the wait being longer than a few months as the longest wait they ever had for a similar situation was about 6 months.  So..for all practical purposes...Evan should have a new liver by the summer! :)

While we were in California, we stopped by the Ronald McDonald house and put our name on the list for housing need. We are really hoping to stay there as it is very close to the hospital, has all the accomodations we need, and because there will be other parents there who (although maybe not going through MSUD related stuff) will understand how we feel and what we are going through.

We have jumped a huge hurdle here with Evan's "college acceptance" and hope that the rest of the process continues to go as smoothly as things have so far.

We love you all and thank you again for your continued support!

Headed to Stanford

Thanksgiving week was...eventful! Evan had a terrible cough and cold as did I. It, of course, messed with his levels and he was crabby and not wanting to eat. We worked with the geneticist to keep him out of the hospital and successfully got through this cold without a hospital visit! Thank goodness. It took adjustments in his formula as well as him eating smaller bottles every two hours while he was up since he didn't want to eat full bottles every 4 hours.  Luckily he is now back to his happy-go-lucky self and smiling :)  

We had a few friends over or Thanksgiving. It was very nice. Evan slept most of the time they were all here, but it allowed mommy and daddy to enjoy their company and dinner.  Quite a nice holiday! :)

So...now to the title of this post...we are HEADED TO STANFORD!

We leave tomorrow morning for our trip to have Evan evaluated for transplant. It took some work, but we were able to get the AF to pay for all 3 of us to travel instead of just Evan and one parent.  They even bought Evan his own seat so we will have some space for sitting (once we get the airline to recognize that an 8 month old cannot sit alone without his parents). 

Our schedule for the week is as follows, leave for Stanford Tuesday morning, meet with genetics Wednesday morning, and then meet with different parties of the transplant team on Thursday (all day).  We are really looking forward to meeting with all parties to fully understand the ins and outs of transplant as well as the benefits and risks that Evan could face.  This is just the beginning of a long journey, but we are happy for it to be starting.

I will update again when we return from California.

Pieces of a Puzzle

Today the pieces are starting to fit and come together. I am starting to see the whole picture beyond right now and into tomorrow, next week, next month, and even next year! Our appointment is scheduled! We will be meeting with the liver transplant team at Stanford on December 1st! That's only a few weeks away! We are excited and anxious, but ready to start this stage of the journey and to put together more pieces of this puzzle.

One of the pieces of the puzzle that we gained today was insight into a family's view of liver transplant at Stanford. I spoke to a mother whose son was also born with MSUD. He was transplanted at just 6 months old!  He is now 2 and a half and is doing very well. This mom gave me all the assurance I needed to know that Stanford has a great team and that we are blessed to have the opportunity to work with them and to have them care for Evan. She gave me peace in knowing that the decision we are making for our son is worth all the risks and challenges.  Talking to families who have walked in our shoes gives me the comfort of knowing we are NOT alone and no matter what we will NEVER be alone on this journey! Once again...the members of the MSUD community are incredible! I am so thankful for all of the pieces to this puzzle that everyone has been able to provide.

Right now our life really is a bunch of puzzle pieces. We are learning how everything fits together and how everything connects. As we move forward, all the pieces will fall into place!

Evaluation Approved!!!

Yes...you read that title right! Evan's transplant evaluation at Stanford has been approved by the insurance! The next step will be on Monday when we meet with outpatient records and EFMP (Exceptional Family Member Program) to arrange for transportation and lodging to be paid for by the military.  We are so blessed to have this as an option.  Once we have that paperwork started, we will schedule our appointment with the team at Stanford. I spoke to the transplant coordinator today (she called because they too got the referral) and she said they have open appointments for the rest of this month besides Thanksgiving and they are open into December. We are shooting for December 1st as we know that the paperwork process will be a little while.  That means that in just a few short weeks we will be on our way to California to have Evan evaluated for a liver transplant. Woot Woot!!! This is the first step on a long journey, but we are looking forward to this and feel it is the best option in treating Evan's MSUD. Please keep us all in your prayers and pray that Evan's evaluation goes well and that afterward TriCare (insurance) will approve the transplant!

Halloween

Evan's first Halloween was a lot of fun! On the Saturday before Halloween we went to our friend's, Josh and Katrina Poe. We barbecued with friends and hung out. It was really nice because it was all friends we had previously been stationed with in GA who are now stationed here. Feels good to be reunited with old friends again! :)  After everyone left, we went with the Poes and their little guy Joseph and trick or treated. Their neighborhood does a big hay ride for all the kids in the neighborhood because the houses are super spread out and up and down a lot of hills. It was so much fun and Evan made the perfect puppy! :)

On Sunday, we went  trick or treating with some friends on base. Unfortunately, I forgot to put the SD card back in the camera so I have no pictures :(  I am glad we got to do both of these things because JR had to work on Monday night and wasn't home for the actual day of Halloween. Sunday was also JR's birthday. We celebrated with Oreo ice cream cake! YUM!

Cousin Thomas (and Aunt Terrie and Uncle Tom) Comes to visit

From October 6th-10th we had visitors! We were so happy to have the Wnukowski family come visit and to get the boys together. Thomas and Evan seemed to have a lot of fun together (makes me wish we were closer).  We got to do a lot of fun things while our visitors were here. We went to the zoo, the pumpkin patch, the balloon fiesta (twice), and the KAFB Air Show.  Here are a few pictures from our visit.

Face off!

First Halloween costumes!

  Evan and Aunt Terrie

The Pumpkin Patch

Balloon Fiesta 2011

Air Show...Sitting Under a B52 Bomber

Waiting....

We had an appoitment last Monday with Evan's geneticist, Dr. H.  He said Evan looks fantastic, but his numbers are still high. We are decreasing his protein intake even more.  He is doing well, though.  We also asked Dr. H to contact Stanford for us and to get the referral going for a liver transplant pre-evaulation. He emailed yesterday and said he contacted Stanford and we may be getting a call from their transplant coordinator.  We are nervous and excited all at the same time! We are sure this is the way we want to go, but don't really know what is going to happen. And we know the waiting is going to be difficult once Evan is placed on the list. Either way...we feel this is right for us and for Evan!

Nana and Papou come to visit

As promised, here is a post about Dad and Kristy coming to visit.

This was taken at the zoo before we headed home.

We didn't do too much while Dad and Kristy were here as Evan was teething (and of course later we found out his levels were off) and was super crabby.  Dad and Kristy were completely fine with that because all they cared was that they got to spend time with Evan.  We did get to take an outing to the zoo which was a lot of fun! Evan really seemed to enjoy watching the monkeys and was definitely more aware of the animals than he has been on past trips to the zoo.


Although Dad and Kristy's visit was short, it was very nice that we had them here and got to spend some time together!

Here are a few pictures from their visit

Nana wanted to sit in the big chair and take a picture with Evan

This was when Papou and Nana first arrived.
 Can you tell Evan is happy to see them?

Papou wanted to be the only one to push the stroller



Papou and Evan couldn't get enough of eachother!

Frustrated!

As usual...life has taken over, so I am sorry I haven't posted for a while. 

My dad and stepmom came to visit last week, but I will save that for another post.

Right now I need to take a moment to let out my frustrations.

It has been 6 months since Evan was born, which also means 6 months of weighing his formula every day, weekly blood tests, weekly weight checks, constant diet changes, worries, and difficult feedings.  Of course there are also good days that are all happy and smiles, but right now I am frustrated.  Is it selfish of me to wish my child were "normal" and didn't have to have these tests every week? Is it selfish of me to wish that I didn't have to worry every time my child didn't want to eat a whole bottle or was extra fussy? I know it could be worse...especially since a former colleague of mine just lost his 16 month old son to leukemia.  That is definitely worse.

What brings on my frustrations right now, you ask? Well...again...Evan's levels are elevated. His numbers are 800. What is most frustrating is that last Monday he was tested...we didn't get results until SATURDAY...5 days later! His numbers were elevated to 500 and the doctor didn't recommend a diet change. I should have gone with my gut and cut Evan off of protein for a day.  Of course I am not the professional so I did as I was told and continued to feed him his protein and MSUD formulas. Then he gets tested this Monday, we get the reults today and he is now at 800...or was on Monday I should say.  The Dr. recommended we lower the amount of leucine we give him by cutting some of his formula.  I feel like it's not enough. I feel like his numbers have obviously been going up for 2 weeks now. Maybe 24 hours without protein would be better. We've done it before.  I just don't understand how the decisions are made! I will definitely be asking for further clarification come Monday when we have our genetics appointment.

It's also frustrating because as a mother you want to protect your child from everything and I am doing my absolute best yet my son still ends up with elevated numbers.  What more can I do? I barely leave the house unless I have to. I fight him to make sure he finishes his bottles so that he stays healthy. I love him and play with him and try to teach him new things every day. But still...it feels like nothing is enough.  It feels like no matter how hard I try he just needs more.  Today was hard. Evan cried...a lot! I thought it was his teeth, seeing as he has two of them coming in.  Then I get the email telling me we need to do a diet change because his numbers are elevated.  Now I don't know...was he screaming because of his teeth or because his leucine levels are too high? Was he fighting the bottle because it hurt his teeth or because his numbers are high?

I HATE MSUD! Yes..HATE! It sucks...it's completely unpredictable and so scary! We are talking to the geneticist on Monday about getting a referral to meet with the transplant team in California. Hopefully we can meet with them soon and get the ball rolling on a "cure" for Evan's MSUD. (At least that's what people in the MSUD transplant community call it). 

If you made it through this post...thank you! Please say an extra prayer tonight for us that Evan's levels drop quickly! I want my happy baby back! :(  And please, say a prayer for angel Micah who was taken from us too soon! I think of him and remind myself that no matter what struggles I am facing with Evan, we are still blessed to have him here. Things can always be worse...even when it doesn't feel like it.

Home Sweet Home!

Just wanted to let you all know we are home. No one really knows why Evan wasn't eating. It could have been a small virus or he could just not like his MSUD formula. We have started mixing it a bit differently and he is doing better, so I am thinking it's the latter of the two listed possibilities. He could also just be a stubborn kid! Either way, we avoided metabolic crisis by going to the hospital and having Evan put on a feeding tube. It allowed him to get enough nutrition to make sure his body didn't have a negative reaction!

Right now, we are just glad to be home and back to "normal"...whatever that means! LOL

Why won't you just eat?

As some of you know, Evan is back in the hospital. For some odd reason the kid just doesn't want to eat! For most kids, not eating as much isn't such a big deal, but for a kid with MSUD it can be an indication of illness, metabolic crisis, or something even more serious.  Or...it could just be a child acting stubborn!

Here's what is going on with us, around Wednesday August 24, Evan became very fussy with eating. He didn't want to finish bottles and went from 5 ounces to fighting after 3 ounces. We were still able to get him to finish his bottles, but he wasn't eating normally at all. By Thursday night, he refused to take more than two ounces at any given time. Very strange for him.  He was still behaving normal at all other times of the day, but when it came to feedings, he was NOT having it! Fast forward to Friday morning...Evan awoke as usual for his 4 am feeding. He took 3 ounces from his bottle without problem. I stopped, burped him, changed his diaper and went to give him the bottle again. At that point, he vomitted what looked like the entire 3 ounces he had just eaten. For those of you who do not know, vomitting is the nemesis of MSUD. I couldn't take it anymore so I woke up JR and told him that I felt we needed to go to the hospital to have labs drawn and to have the doctors observe him.

We got to the hospital around 5 am, Friday morning.  In the ER they drew labs and Evan's geneticists came in to observe him. Based on his behavior they were pretty sure it wasn't his MSUD acting up, but there really isn't a way to tell until his levels come back...which took until SUNDAY! So frustrating! Evan did not want to eat more than an ounce every few hours if that while in the ER, so they started an IV of D10 which is basically fluids with a high level of sugar to give him calories.  They admitted him and several hours later we were finally up on the general peds unit...and here we still sit!

Evan's levels have all come back normal, so now it's just getting him to eat.  A feeding tube was put in Saturday night and was run on continuous feeds until the next day. On Sunday we went to bottle then bolus feeds to mimic the normal eating pattern during the day and a continuos feed at night. Evan is starting to eat more by bottle than by tube which is a step in the right direction. Hopefully he continues to move in the right direction.

We still have a lot of questions...many of which no one has an answer for. Of course the biggest question is why won't he eat? We may never know and that is soooo frustrating!




Here are a few pictures of Evan during his current stay at the hospital.  

Evan LOVED playing with the activity gym we were able to borrow from the Child Life program.  He would bat at the toys and kick and laugh. (Basically the happiest "sick" kid ever! LOL)



Our friend's Jen and Travis came to bring us lunch and visit with Evan.  Travis had not met Evan as he just returned from a 6 month deployment to Afghanistan. Evan took to him right away and LOVED when Travis put his hat on his head! We are truly blessed to have great friends here! :)



Feeding tube in and still laughing and smiling! :) We are lucky to have such a happy boy!





Cereal!

Evan tried cereal for the first time today!!! He did great! Opened his mouth for the spoon, but of course spit quite a bit of it out. I don't think it's that he didn't like it. I just don't think he knew how to keep it in his mouth and swallow it.  He definitely seemed to enjoy the experience as did mommy and daddy. We will be doing this each night for the next couple weeks until we get the hang of it and are ready to move on to veggies!

So you all understand with Evan's MSUD, adding new foods can be scary! I kept putting off giving him food because I am so concerned about monitoring his protein intake. With close monitoring and discussions with his dietician, we will do great! He is eating "normal" rice Gerber rice cereal. It has 1.1 grams of protein in 1/4 of a cup. Since I am only making 1 Tbsp. right now mixed with his MSUD formula, there really isn't much protein being added to his diet from the cereal.  I have to write down what he eats (just like I have been) and we will continue to have weekly blood tests, but right now, it's more of a learning stage for all of us. Once he is eating enough for the food to be .5 g or more of protein and is eating more during the day we will start to decrease his protein formula and instead he will get his protein from his baby foods. 

We take each new experience and challenge as it comes and just continue to monitor and pray that Evan's protein levels stay where they should! 

Our first Scare!

The day after we returned from the longest road trip ever, we took Evan to get bloodwork done.  He was acting fairly normal. Maybe a little crabby, but we just assumed it was from being stuck in his car seat. Otherwise he was acting normal...eating well and playing and smiling.  A few days later we get a call from his dietician and geneticist that his numbers are extremely elevated. His leucine was up to 1900. For most people, this would equal hospitalization because they would not be eating and would be fairly lethargic.  Since Evan was still eating, there was no need for hospitalization at that time, but we had to do some careful monitoring of his behavior and major adjustments to his diet. We stopped all Enfamil (that's his protein) and only gave him his MSUD formula.  I was worried he wouldn't go for it because he seems to dislike his MSUD formula, but we got lucky and he continued to eat a normal amount of formula and we were able to keep him hydrated and get nutrients into him.  We also had to increase his supplments of isoleucine and valine because as his leucine was dropping, they were dropping even faster.  We did some extra blood tests and luckily his numbers started to drop immediately and were back to normal within a couple of days.  Thank you Jesus for watching over our son!  Any time his levels get elevated, there is a risk for any number of issues to arise including neurological damage and palsies.  We are lucky that it seems at this point Evan is just continuing on as a normal child.

After this scare, we have thought a lot, researched a lot, and prayed a lot and really feel that we need to look further into the option of liver transplantation.  In my research, I came across a support group and spoke with a couple of different families. One is a family who lives in Gurnee, IL where I had my first teaching job and the other happens to be an Air Force family whose son had a liver transplant for MSUD when he was about 9 years old.  He is now 13.  I think this family is going to be a HUGE support for us as they know how to battle with TriCare (our insurance) and the ins and outs of the Air Force.  I spoke to the father for over an hour after he emailed me back and told me we had a lot to talk about and to call any time. They are a loving Christian family with 2 boys. Ryan is their oldest and was diagnosed with MSUD after over 20 days of tests and worries from his family and doctors. At the time, MSUD was not being tested for on newborn screening in all 50 states.  Ryan lived with his MSUD for 9 years before having a liver transplant and in talking to his parents, had they known how different his life would have been with one, they would have done it sooner. However, the information about liver transplants for MSUD was not readily available then as it is now and it was not as common.  They came across their decision after meeting a family whose child had done very well with diet monitoring for her MSUD and then suddenly had a major crisis and ended up in a wheel chair. That family now advocates for liver transplants. That is not what we want for Evan, so we too feel it's important to explore our options to give him the best quality of life that we can! MSUD is scary!

Sorry it's been so long....

Sorry it's been so long since I updated the site. Life has taken over (as usual)!  Anyway...Evan is now 4 and a half months old and doing well!

From July 2-July 17 we were traveling on THE LONGEST ROAD TRIP! Although it was long, it really was not as bad as I thought it could be and Evan did fantastic. First we drove to Destin, Florida for a friend's wedding. On the way, we were able to stop in Gulfport MS to spend a night with our good friend's Tanya and Duane. They were VERY hospitable and served us a wonderful southern style homecooked meal and gave us a comfy bed and a nice place to sleep! Of course the company was great too! Since our visit, Tanya and Duane delivered a beautiful baby girl named August...CONGRATS! We can't wait to meet her...only next time, we won't be driving! LOL

After visiting our friends, we finished our drive and were able to celebrate Independence Day with some wonderful friends from our time at Moody AFB in GA. We are very excited because a few of them will be PCSing to Albuquerque in just a couple of months and we will get to spend more time together and they will get to watch Evan grow!  It was Evan's first Fourth of July, but of course he was asleep during the fireworks. We did take him outside to watch them, but he just slept in his Peapod tent and wasn't fazed a bit by the loud booms. I am glad to say my child can sleep through just about anything.  While in Destin, Evan got to see the beach for the first time and even put his toes in the water and sand. At first he wasn't too excited about the waves hitting his toes, but he warmed up to it and will probably love the ocean just like his Daddy!

On July 9, 2011 our good friends Jon and Christina Jett were married in a gorgeous ceremony on the beach!  We had a wonderful time and were so glad we were able to celebrate in that beautiful moment with them!

The next day, we hit the road again. This time we were headed to Chicago.  We spent a couple days in Chicago visiting with my family and introducing Evan to his Big Fat Greek Family! :) While in Chicago, Evan had the opportunity of meeting all 3 of his living Great Grandparents on my side of the family! I am so blessed to still have my grandparents in my life!

                                         

After our short visit, we went down to Bloomington visit JR's family.  Evan was able to meet all his Aunt's and his 8 cousins! He was definitely spoiled being the only boy and the baby.  It was wonderful to be able to visit and have the closest people in our lives meet our special little guy! He is truly blessed to have you all in his life! :)

The drive home was okay.  Long, but okay! I have to say a HUGE thank you to my husband for the 60 + hours of driving he did on this trip! Love you babe!

3 Months Old and Father's Day

Evan turned 3 months old today! Wow! time sure has gone quickly! He is doing well and growing and changing every day.  Last week on Monday he weighed 11 pounds and 3 ounces. He has gained 3 pounds since he was born! His MSUD is still being managed very well with his diet and isoleucine and valine supplements. Last week he gave us a scare. He decided he no longer wanted to eat 4 ounces and would sometimes barely want to finish eating 2 ounces.  Of course since refusal to eat can be a sign of metabolic crisis, JR and I were super worried. He was acting normal accept at feeding times.  After a few days I finally called the geneticist and he told us it was normal for babies to change their eating patterns and to not worry as long as he ate his protein bottles (enfamil) and took his supplements.  After another day of him being a pill when it came time to eat I thought it may be the bottle because it was just the bottle he didn't want. I eventually went to the store and bought a NUK brand bottle since the nipple is the same shape as his pacifier. Sure enough...next feeding he took 4 ounces! He has been eating better ever since. Thank goodness I figure something out because I don't know how much longer I could have gone with him fighting the bottle!

Today was also Father's Day! We had a nice relaxing day hanging out at home. Then we went to Olive Garden for a Father's Day lunch. Afterward we stopped by Babies R Us to pick up a few things for Evan.  Evan made Daddy an impression of his feet and painted them green for his father's day present. It's like a decoration for him to hang in his office. Daddy loved it along with the card that Evan got him.  All in all it was a nice relaxing day as a family.

 

We are all doing well. Just getting ready for our vacation to Florida for our friend's wedding and then our trip to Illinois so Evan can meet more of his family. We are all looking forward to getting away for a few days.

Summer is officially here!

Summer has officially hit Albuquerque and it's HOT!  (and smokey. For those of you that don't know, the AZ fires are causing some major smoke here in Abq). Things are going well and we are enjoying the nice weather. Evan, Wrigley and I get out a bit and walk, but only in the morning because it gets too warm later in the day. Evan loves to be outside. It's pretty windy here in Abq, but he seems to like the wind most of the time. 

Evan is doing great! His leucine levels are finally at the normal range (116)!  We have been chasing them up since he was released from the hospital (which is pretty typical of MSUD cases).  We are finally in the normal range. Now we just need them to stay there! We will continue to get weekly blood tests and weight checks so the dietician can help us to adjust his diet each week.  The dietician determines how much protein he should get to keep his leucine levels normal. In addition to his protein formula (Enfamil) she also tells us how much of each of his valine and isoleucine supplements he should get. Obviously it's been working, so we are very happy with that!

Although the doctors have been great, dealing with the insurance has been a nightmare! They are supposed to cover everything...his formula and supplements, and they will, but it's been quite a process to get there! The initial referral was, I guess, not written correctly, so when we went to get Evan's supplements from the pharmacy they wouldn't pay for them. (They will reimburse us, but that's a whole other process).  In speaking to our TriCare case manager, she determined we would have to get our supplements and formula from a healthcare company that could send them to the house and the only one she found that would deliver both was Apria Healthcare. Great...we thought...when they found a company. Of course, then there was a delay because they didn't have these items in their system (since MSUD is so rare) and had to add them which would take at least another 2 weeks.  UGH! More waiting! Luckily, Nutricia (the company that makes Evan's formula) has been AWESOME and have sent us more sample cans as requested by Evan's dietician. They have been so wonderful in making sure we are never without what Evan needs.  Now we have FINALLY starting getting our shipments from Apria, however we have only gotten his supplements.  I called today and the formula was supposed to be delivered to the local branch today. I am supposed to get a call back letting us know when we will have his formula here at home...I am not holding my breath! I call this company almost daily to make sure we are getting what we need. It just goes to remind me that it's true that as a parent we are our children's only advocates. If we don't speak up and fight for them, no one else will! I will ALWAYS fight for my son! So that's my rant about the insurance and healthcare company.  Eventually it will get figured out, but for now it is my biggest frustration. 

Our life in Albuquerqe is going well. I turned 30 a week ago today and we had friends over on Memorial Day to celebrate. It was really great to have friends in the house and to hang out. It reminds me that no matter where the AF takes us, we always have friends!  Speaking of friends, some of our best friends from our time at Moody will be PCSing (permanent change of station for you civilian people out there) here to Albuquerque in the fall. It will be great to have these familiar friends around again! :)

Gary (JR) is doing well too! He is busy with work, as always, but seems to be enjoying it most of the time.   He likes the people he works with and what he does, so that always helps.  He is going to Vegas this week for the Pedro 66 memorial.  (Pedro 66, for those of you who don't know, was the rescue helicopter that went down last year in Afghanistan).   As sad as it will be, he is glad to be able to go and be a part of it and to remember his friends.  Other than work, he has been enjoying grilling since it's summer again and he is back on the four wheeler enjoying the sunny Albuquerque weather. I am hoping to get on the four wheeler a bit this summer since last year I didn't really get to enjoy it being pregnant. 

I think that's about all going on in the lives of the Miller family. We are looking forward to the rest of the summer and traveling to Florida for a friend's wedding and then up to Chicago so family and friends can meet our precious angel, Evan! We will try to see as many of you as we can when we travel to Illinois, but please forgive us if we run out of time. There are lots of you and only 3 of us! Love to you all! :) Hope the beginning of the summer is finding you all as well as it's finding us!

Grandma and Grandpa Miller came for a visit!

Grandma and Grandpa Miller with Evan on top of Sandia

Last week, Grandma and Grandpa Miller drove in for a visit. They stayed from Wednesday until Sunday. It was really nice to have them here and I know they were very excited to meet Evan as we were excited for them to meet him. During their visit, they got to go out to see the helicopters and we took them up to Sandia Peak on the Tram. It was Evan's first trip up to Sandia and on the tram. I carried him around in the baby bjorn and he was cozy as could be! He did GREAT the whole time!

Our little family at the top of the Tramway at Sandia Peak

Since I last posted, Evan has been smiling so much more! He even smiled at me today right before the nurses poked him to draw his blood! :) He is also very aware and constantly looking around. He follows his mobile on his swing and gets upset when it stops. He even rolled over during tummy time on Tuesday (May 10)! It was too funny! I think he scared himself because he started to cry after he rolled to his back.

3 Generations of Miller Boys!

Evan also seems to be starting a schedule for himself where he takes a good 2 hour morning nap and then naps again in the afternoon. Hopefully this is the beginning of a more normal schedule so mommy can anticipate what each day will be like.

At today's weight check, Evan was 4.2 kilos which is about 9 lbs and 3 ounces! He's getting to be a big boy. This weekend I held a friend's baby girl who is 7 lbs 2 ounces (Evan's weight at birth) and it was so strange to feel how light she felt. I can't believe how quickly Evan is growing. Even the nurses commented on how long he looked this morning. He is about 21 inches long now! Our little weed is growing quickly!

First Mother's Day

Yesterday I celebrated my first Mother's Day as a mommy! It was wonderful! It started with a delivery of flowers from Evan (I am sure Daddy had a little hand in that too :) ) I got to relax and hang out with Evan while Daddy vacuummed and did some cleaning! Quite a break for mommy! Then we went to lunch at a local brick oven baked pizza joint. The pizza was yummy, but the salad was even better! Later we had a nice family walk (yes...with Wrigley too)! Finally, we make chicken kabobs for dinner and enjoyed a quiet dinner at home as a little family! :)

Daddy is doing well too! Working lots and going to school. He is taking classes to finish his Community College of the Air Force Associates Degree. He has 2 classes left to go and he will have 3 (I think) associates degrees. Don't ask me in what because I can never remember. He is hoping to continue school while we are stationed here in Albuqeurque and maybe even finish his Bachelor's Degree.

Evan is doing well and learning new things every day! He smiles more and is starting to coo when he plays with his toys. His favorite is still his playmat. He also loves listening to songs and stories and of course swinging. He has learned to like bath time and really enjoys when you pour the warm water over his head.

He's also gotten better hand eye coordination as now he can actually hit the toys hanging above him on his playmat. The first time he did that, he startled himself, but now he seems to do it with purpose. Evan does okay with tummy time, but sometimes he just doesn't want to lay on his tummy. He is getting better and better and lifting his head and shoulders off the ground. He's quite a strong little guy! He also had his 40 day blessing in the Greek Orthodox church last Sunday, May 1st. He was quiet and did great the whole time!


Today we had his weekly appointment and he is now up to 3.95 kilos, which is about 8 lbs 11 oz. They also measured his length and he is 21 inches long. He is eating between 3 and 4 ounces every 3 to 4 hours. He is pretty good at going right back to sleep after he eats at night. Hopefully he stays that way because mommy enjoys getting at least a little bit of sleep!

Evan loving his playmat!

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2 weeks at home

We have been at home for 2 weeks (tomorrow) and all continues to go well! Last week we had our first metabolic clinic appointment where we met with the geneticist, genetic counselor, and dietician to discuss Evan's progress and course of treatment. Everyone continues to be pleased with his progress and he is continuing to put on wait! He was 7.2 lbs at metabolic clinic last Monday and today at his weight check and blood draw he was 7.92 lbs! Eating and gaining weight like a champ! (Both are VERY good signs).  Right now we will continue to do weight checks and blood draws every Monday and then meet monthly with the genetic team. After each weight check, the dietician looks at the information and determines how much protein Evan should be getting. Right now he gets his protein from breastmilk, but we will soon switch to a regular infant formula as the pumping and feeding is not going as well as I as was hoping. The geneticist gets the results of Evan's bloodwork and determines if we need to continue to supplement the acids isoleucine and valine, then tells us how much of each we are to give him.  This bloodwork also helps to determine how much protein Evan should eat.

 

Evan is growing and changing every day! He LOVES his playmat. He lies there and looks at the lights and listens to the music. When it stops...he starts to cry to get you to start it for him again. He has startled himself a few times by actually hitting the toys that hang above him.  He also likes his swing a lot. He will calm easily when he swings and he also likes to just look up at the mirror and mobile on his swing. 

Aunt Michelle and Uncle Jason with Evan

Aunt Michelle (JR's sister) and Uncle Jason came for a visit last week. We enjoyed having them and I know they enjoyed getting to meet Evan. We got a chance to go out to the botanical gardens and have Aunt  Michelle take some pics of Evan with the flowers and for our birth announcements. They turned out super cute! (Thanks Michelle!)

My 512th Ladies and I on Spouse Day

As for JR and I, we have been adjusting to our new schedule with Evan and trying to sleep when we can. JR is back at work, so night time feeds often fall on me, which is okay since I can try to nap during the day if need be.  On Friday I got to go on a spouse flight FINALLY! (I kept missing them when we were stationed at Moody).  It was so cool to finally get to fly in a helicopter and see what my husband does each day! What an amazing view he has from his "office" in the sky! :) I will definitely fly again when the chance arises!

Easter morning before heading to our friend's house

We celebrated Easter this year with some friends by going to a BBQ.  It was small, but nice to have friends to spend time with for the holiday.

 All continues to go well here and we hope you can say the same!

Home Sweet Home!

We got to bring Evan home from the hospital on Tuesday! YAY!!!!!! We still have to monitor his diet closely (as we will for the rest of his life) and we have to make sure he doesn't start acting lethargic and refusing to eat, but we are home! We will be attending weekly metabolic clinics and weight checks to determine if his diet is sufficient or if we need to make adjustments. Obviously with little ones growing so quickly, we need to make sure he is always getting the right amount of nutrients and just enough protein...not too much and not too little. It will take a lot of monitoring, but right now I am just happy to have my baby home!

The last couple of days have been an adjustment, but they have gone well. JR and I are sharing the night time feedings which aren't too bad since Evan is eating every 3 hours.  He is a fairly quiet baby, so we often have to set an alarm to get up to feed him at night, but as soon as he is up he is ready to eat!  The squadron has been awesome and are providing us with meals for dinner so we can get adjusted before having to take on all the houshold responsibilities again.  We are so blessed to be a part of such a supportive squadron! I have met a lot of other people who don't have the same support.

Evan is still eating like a champ and seems to be getting bigger! He is such a love bug and loves to be held, but he doesn't mind being put down either! Aside from his dietary needs, so far he is an easy baby. We are truly blessed.

Thank you all for your thoughts, prayers, and support while we were in the hospital. We will still need them to make sure he continues to do well, but so far so good!