The Right Words - Rare Disease Day

Today a friend posted on his Facebook about MSUD and I loved the way that he had explained all the details of living with MSUD on a daily basis. I got permission to use most of his words (but adjust as needed for Evan's specifics) to share with you what we do each day to make sure Evan stays healthy.

Since today is 'Rare Disease Day', I thought I'd explain Evan's metabolic condition in case there were people who didn't fully get it. Evan has MSUD.

MSUD is Maple Syrup Urine Disease. It's a biochemical disease and it means that Evan is missing a family of enzymes in his liver that break down 3 specific amino acids.

When you eat protein it breaks down into 20 amino acids and your body uses them to grow, build muscle/tissue etc. Each day your body only needs a certain amount of each amino acid and the rest is overage and this overage is very toxic to you so enzymes blast the overage into smaller safe bits. For Evan, 3 of the 20 amino acids cannot be blasted so they collect in his body very quickly and 1 of the 3 is highly toxic to the brain and will cause brain damage, coma or worse. So Grayson cannot eat meat, fish, eggs, diary, soy, tofu, grains, nuts or anything normally thought of as rich in protein.

So what does he eat? Well he has a formula, just like all kids, but his has quite different in composition. This medical formula gives him all the fats, vitamins, minerals etc but instead of also having protein, it has the 17 amino acids in powder form that he can process and is without the 3 he can't break down. He still needs to get those missing three aminos, as the body needs them every day, but we do math and use a scale to determine how much real food to give him so that just enough leucine is in his body, with no overage and no underage (if that's a word?). He mainly eats fruits and vegetables. He does also eat some pastas, rice cereal, and risotto. Gerber baby food company is wonderful and has been able to share with us the amount of leucine found in most of their foods so we are able to give Evan more than we otherwise would.  It's a very delicate balance as we must expose Evan just an exact amount of protein each day...to the decimal. Right now he gets 63mg of leucine (leucine is the problem amino acid) per kilo of his body weight. This week he is 9.45kg so that means he gets 63 x 9.45 = 595.35mg of leucine per 24 hours. On average a gram of protein has 68mg of leucine so that means he can have 418.4/68=8.755 grams of protein per 24 hours. To give context, a measuring cup of skim milk has 9g of protein and Evan can only have 8.755g/24 hours. (I learned through my friends that this is more than some children. Grayson, the original poster's son, only gets 40 g/kilo. which is less than 7 grams of protein per day for him) Evan gets his blood checked weekly at a local lab and his blood is sent out of state because to be analyzed.  There is no machine here in NM that can analyze his blood, so we often wait almost an entire week to get the results. (Many of the other families we talk with get their results same day or within 48 hours). He has a dedicated dietician at UNM who reviews he protein intake every week and makes adjustments and he has a dedicated geneticist. He cannot eat a gram more of less of his required intake or he can go toxic.

Food isn't only one way the body gets protein. The other way protein is introduced into the body is if the body metabolizes its own resources (which is how you lose weight). This is called çatabolism. Your body goes catabolic when you don't have enough of a specific resource it needs (fat/sugar/protein etc) and it eats its own reserves. Since muscle is protein (just like a chicken breast is a great protein source or a steak), if Evan goes catabolic it can release uncontrolled amounts of protein in to his body and therefore increase his leucine levels. The body also goes catabolic when there is a stressor like a cold, or teething or an injury etc. Also, blood contains whole proteins in it. Two nights ago my friend's little boy, Grayson, was standing and then fell and hit his lip on the drawer and cut his gums. Since he would be swallowing his own blood and that whole protein would break down into amino acids in the stomach, the Dr's had them decrease his protein intake by 40% for 12 hours just to be safe. That was something I had never considered in regards to Evan.

So it's the tightest of tightropes. He can't have anymore protein in his diet that what his body needs for that day, but if he eats any less, the body will simply go catabolic to get at it. This means that each day we measure and calculate and hope that we got it right.

This is a little bit of insight into the inner workings of our day to day with Evan. In addition to his MSUD, he also suffers severe reflux issues and will vomit sometimes once a day. It's a struggle, but we have been lucky so far that his levels have stayed normal for most of his 11 months of life.  We are also lucky that liver transplant is an option for us. We have learned that many of our friends both in the US and outside the US have difficulties in either getting their doctors on board, getting insurance approval, or even in their country's belief in using liver transplant for MSUD treatment.  At this point we are still waiting for Evan's liver transplant so that we can begin our "new normal".  We are hopeful that we will get the call soon. 


Today is Rare Disease Day~ The disease may be rare, but hope should not be! Hope, it's in our genes! 

Support

Every time I start to feel like things are getting too hard something or someone does something to pull me back and remind me that we are going to get through this. Sometimes it's another parent of a child with MSUD who is looking for help or who is there to listen. Sometimes it's my husband or a friend telling me I do a great job with Evan and how impressed they are with my ability to stay strong through all of our struggles. Sometimes it's just someone asking me how we are doing and how Evan is doing. Not just asking, but genuinely caring and wanting to know. Somehow God knows just when to bring those people or those moments so that I can regain my strength and keep doing what I do for our little guy!

Evan is doing great! He makes my job as mom so much easier! He is generally a happy boy. He smiles a lot and babbles all day long! He is starting to take his first steps and it's amazing to watch him learn new things each day. He is a very active boy as most boys are. He has been eating well lately, which is a pleasant change from the way things have been before.  He sleeps well too, which is great for us as it helps to make each day a little easier.  Everything is easier with a good night's sleep!

For those of you wondering about the transplant, we are still waiting. Evan is staying healthy, which is wonderful and makes it easier. Regardless, I still spend each day worrying and wondering about when we will get the call. I just remind myself that it will come when the time is right. In the meantime, thank you all for the continued support. Our faith, family, and friends will carry us through this!

Just don't forget the baby

" sometimes all you can do is not think, not wonder, not imagine, not obsess… just breathe, and have faith that everything will work out for the best . . ."

A friend posted this quote on her Facebook the other day. It keeps running through my mind. It's one of those quotes that reminds you that things happen when you stop stressing over them (like getting pregnant, taking a big test, or waiting for something in the mail).  

I know that it's in Gods hands as to when Evan will get his new liver and I truly believe he has a plan for us. I just wish I knew that plan. It is so hard not to spend every waking (and when I'm supposed to be sleeping) moment wondering when we will get "the call." Then of course I wonder where Gary will be when it happens. Will he be flying? Will I have to get the First Sergeant to have to call his aircraft back from a flight? Will it be in the middle of the night like they say it usually happens? Are our bags really packed enough? Will I forget something? 

I spoke to a new friend today who is 25 with MSUD and awaiting her call for a new liver.  As I was telling her about all my fears and wondering how I would handle things when we do get the call I realized none of that really mattered. All of those things would work out. So what if I forget a toothbrush..there are stores in California.  I finally told myself that nothing matters...JUST DON'T FORGET THE BABY! 

So back to that quote...don't think, wonder, imagine, or obsess....harder said than done! Just wish there were a switch that I could turn off and allow myself to breathe and let my faith carry us through this.  I pray each day that God gives us the strength to get through the next day, week, month, however long it may be. I pray that he keeps Evan healthy so that we don't have the added stress of him being sick or having his levels off. 

I am hoping that by writing this all out I will be able to stop thinking, wondering, imagining, and obsessing and just breath and have faith! 

Rare disease awareness

Chances are, before you met Evan or stumbled across this blog, you had never heard of MSUD.  We hadn't either, and it's not surprising, as it's what is considered a rare disease.  Current statistics estimated that only 1 in 180,000 babies are born with MSUD.

Living with a rare disease is difficult.  There is very little understanding, both from the general public and the medical community.  Imagine having to explain your disorder and it's effects several times a day, every day, for the rest of your life.

Global Genes, through the RARE project, is working to bring awareness to rare diseases.  They have declared February 29th World Rare Disease Day. 


This is 30 days from now, and the number 30 is significant - 30% of children with rare disease die by their 5th birthday.

More statistics:

An estimated 350 million people are affected by rare diseases worldwide.
1 in 10 Americans is affected by rare disease.  That's over 30 million people. 30 million Americans is more than the total number of people living worldwide with cancer (28 million according to the Livestrong Foundation).
There are more than 7000 rare diseases with some affecting less than 100 people.  75% of rare diseases affect children.
Almost 80% of rare diseases are genetic in origin.
These rare diseases are chronic, life threatening, and FATAL.  Only 5% of these diseases have any kind of treatment.
Over 50% of rare diseases have no foundations, advocacy groups, or community support.

Surprising statistics, aren't they?

But you can take action!

Help Unite 1 Million For Rare on the Global Genes Project Facebook page so that we can increase awareness to the rare disease community.
Wear That You Care (using jeans to call attention to genes that can cause rare disease) on World Rare Disease Day and encourage others to do so too.  Include your schools, sports teams, places of worship, friends, family, and coworkers!  Share your photos and Facebook and tag Global Genes Project. 
Donate a bracelet to the 7000 Bracelets for Hope campaign and bring hope to a child/family living with rare diseases.
Are you living with rare?  Sign up to receive one of the 7000 Bracelets via the Global Genes website and also join the R.A.R.E network.

I also ask that you support the other bloggers who are blogging today to raise awareness of World Rare Disease.

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.

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.

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!

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!