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!