What a fun weekend!

We had tons of fun this weekend! Friday we had a wonderful thanksgiving lunch at the squadron. It is always nice to feel welcomed and a part of the squadron. Plus... Getting Thanksgiving dinner twice is great!

That afternoon Evan and I also went to a play date at a friend's house, which is always tons of fun!

Saturday evening we went to a friend's house to watch the UFC fights. Our friends have a little girl about Evan's age and they always have tons of fun together. They come to story time with us at the library each week, so the kids know each other well. Last night when we left, Evan and his friend were so sad to be separated that they both cried! Broke our hearts, but was also heartwarming to see that they really love each other!

Today we went to a birthday party for another friend's daughter so is turning three. We went to a place called Albuquerque Jump which is a bunch of indoor jump houses and bouncy slides. The last time we went, Evan did not like te bounce castles and wanted nothing to do with them. Today was the total opposite. He LOVED jumping! It was so fun to see him jump and play with his friends! :)

A day in the life...

Life has been so much more "normal" lately. A typical day consists of enjoying Evan by going to story time, the park, the zoo, or just having fun at home. We get out as much as we can. Yesterday we ran errands, went to music and movement class at the library and the park. It's so nice to be able to enjoy being a mommy rather than spending my days strain per every little thing! It doesn't mean I don't worry or stress about things. It's just a lot less than before!

The tables have turned...

Evan is now 7 and a half months post transplant and doing well. We have had little bumps, but nothing that couldn't be handled fairly easily. Evan's amino acids are good and his liver functions are beautiful! The stresses we have now are nothing like the stresses we had pre-transplant. We still stress about Evan eating, but that's because he is a picky toddler and it drives us crazy! When the stress of him not wanting to eat lunch is just too much we don't have to fight him and make him eat like we did before transplant. He doesn't have to take "x amount of formula" and "x amount of protein" to stay healthy. Now he takes his meds twice a day and eats what and when he wants to (at least what we are willing to offer him). It's amazing to look back on what days were like before and see how different they are now. We are so blessed and have come so far in Evan's 19 month life! :)

Now to the title of this post...the tables have turned...

Instead of me calling, emailing, or facebook messaging families asking for support and help with managing Evan's MSUD and the stress... I am the one receiving phone calls. I have spoken with many families who are  just learning to manage their children's MSUD or some who have been doing so for longer than Evan has been alive. One family has a young child who is very similar to Evan in that the child is already refusing to drink the formula even when amino acid levels are normal. By sharing our experience with this family, I am hoping they realize they are not alone and that there is a possible answer (this family would like to pursue liver transplant from what they have said). There is another family who used to help me because their child is older than Evan. The mother would listen when I was frustrated and struggling to get Evan to eat. She was there to listen when Evan's levels were elevated or when he was in the hospital. Now she is pursuing liver transplant for her child and I am there for her. I have explained to her the process we went through, the transplant experience, the recovery, and what our life is like now. I feel like I am paying forward what other people did for us when we were struggling to manage Evan's MSUD. It's a good feeling, but at the same time there is a level of sadness I feel for these families. I hate that they are going through this struggle. It's not something I would wish on my worst enemy. But, I am thankful that I am able to offer them some support and I hope that they feel like they have hope! I pray daily for all those effected by MSUD that they stay healthy and persevere in managing this ugly disease.

If you are reading this because you have a child with MSUD and are looking for help, please don't hesitate to contact me or ask for help. There is a FB page for families with MSUD. That's how I found my support! Remember, you are not alone!

Evan in Action

A couple of videos of Evan in action!

Family Photos.....with a toddler! :)

We went to a local park and took family photos this weekend. It was lots of fun.....and stressful! As anyone who has ever been around a toddler for more than 5 minutes can tell you, they don't sit still! Saturday was no exception! Evan wanted nothing to do with the camera and everything to do with the grass, sticks, rocks, and anything else he could get his hands on. Here are a few pictures from our photo shoot for you to enjoy! As you can see, Evan is doing well! Happy as a clam and curious as ever! 

6 months ago

In just 1 week, Evan will be 6 months post transplant! I cannot believe this time has gone so quickly. To think of our lives just 6 months ago brings back so many emotions.

I remember spending my days worrying about whether or not Evan was going to eat and how long each bottle of formula was going to take for him to finish. I would do anything and everything I could to make sure he took his formula. Taking his formula meant staying out of the hospital and preventing potential brain damage as best we could. I spent a lot of my days at home because it was just too hard to stress about him eating and actually go out and do anything. My closest friends can attest to seeing me struggle to force Evan to finish bottles of formula and measured containers of baby food.

Just 6 months ago everything I put into Evan's mouth or offered him to eat was carefully calculated and weighed on a scale. I didn't just offer him a bite of what I was eating...I couldn't. It had the potential to mess up his levels and put him into the hospital and cause brain damage. Just one bite! How scary is that?! And that doesn't include the fear and frustration that day to day stress that could also have messed up his levels. Evan has spent the last week teething. He is cutting his canines and they have really been bothering him! 6 months ago if he was teething I was watching for any potential sign of elevate leucine levels. Now I am doing everything I can to just distract him from the pain so he can have a good day (and so I can have some sense of sanity in my house).

Here we are 6 months later and today we are going to the aquarium and the botanic gardens with friends. I am not worried about whether or not he will eat enough. (Although he is a typical toddler and is super picky with eating. Sometimes I wonder how he grows with the little bits he eats). We still worry about him catching a cold or getting sick as his meds are immunosuppresants. This means he can't fight off viruses and bacteria as well as a "normal" child. We do have that worry, but we also know that viruses and bacteria can be caught quickly and can be cleared with medications or other treatment. Before his transplant, we just hoped and prayed he got through them quickly so that he didn't end up in the hospital and his levels didn't get too out of wack.

6 months ago I also spent much of my days wondering when and if we'd get the call. We were told the wait would be about 3 months but most likely not more than 6. We were almost at the 3 month waiting point. I am still in awe that the doctors were so right about when we would get "the call". Almost 3 months to the day from when Evan was listed we got the call that they had accepted a liver for him. That was the end of one journey and the beginning of another.

People still ask about our decision to transplant and how we feel about that decision. I can honestly, without a doubt, tell you that it was THE BEST decision we could have made for our child! We have protected him from the very scary and negative effects of the VERY unpredictable MSUD! We have given him the most "normal" life we can offer him and he is flourishing because of it! Evan doesn't have a lot of words, but he can tell you just about any animal sound you ask him! :) He runs and climbs! He eats what he wants (if he wants to eat). He is a typical toddler in every sense of the word! I cannot guarantee that I would be saying all of those things if we had not chosen to transplant. I cannot tell you if Evan's brain function would be normal or if he would have gotten sick and lost some of his skills. I cannot tell you if he would have been hospitalized with elevated levels (which he most likely would have been at some point...especially with as much stress as teething has been causing him). For us, and for Evan, transplant was the best decision!

6 months....Sometimes it seems like an eternity ago and others it seems like yesterday! For us, 6 months has been such a time of change! :)

3 months and 9 days

Evan is now 3 months and 9 days post liver transplant. His liver function numbers are beautiful, he is eating like most typical toddlers (what and when he wants LOL), and is active and happy as can be! I cannot believe how far he has come in such a short amount of time. There was a time when I could never imagine my child eating even a bite of meat or cheese and today he eats turkey and cheese sandwiches! :) We are so blessed! 

Prayers for other families

I want to ask you to pray for another family of which we have recently learned. Their little girl, Riley, has had her 3rd liver transplant in a month and is still not doing well. Her ammonia levels are high and there is fluid in her belly. She was born with biliary atresia which is one of the most common reasons for liver transplant in young children. Please pray that the doctors can determine why things are not going as they'd expect and that they can get her on the road to recovery. This family has been through so much and they are all fighters.
Here is a link to their story:  https://www.facebook.com/RileyLarson.BAAwareness

I'd also like you to please keep a few names of other families in your prayers. Our friend Amanda Walton is awaiting liver transplant for her MSUD. She is in her 20s and is tired of living with MSUD. She wants some sense of normalcy and has been waiting for a new liver for some time now.

Another friend of ours, Mackenzie is also in need of prayers. She is 13 and has been struggling so much with her MSUD that she has chosen to be listed for liver transplant in Chicago. Her mother and I have talked a lot over the last year or so and I know her mother is also struggling with this. They are definitely ready to get "the call" and move forward to the next stage of their lives..a life without MSUD! 

As always, please continue to pray for all the families and children with MSUD. It's a daily struggle for many of them. 

Been home a month!

I want to start by telling you how blessed we are with the wonderful people we have in our lives here in New Mexico. As most of you know we are far away from our family since JR is active duty Air Force. You would never guess that we didn't have family nearby though. We have an amazing military family who has supported us every step of the way. When we arrived home from California our house was stocked with food for a couple of days and had been cleaned from top to bottom (Thank you, Thank you, Thank you!) Our friends wanted to be sure that the house was clean for Evan and that we didn't need to stress out about getting settled. It made the transition so much easier. Our friend Jen and her daughter were also here to welcome us home! :) So wonderful to have such amazing friends to make life a little easier! This is just what people did for us when we returned home.

There were so many other things done for us on this journey that have truly taught us how blessed we are. We had a friend watch the dog, friends come and check the house, people offered to take up collection for money, money and gift cards were sent to us. Evan received many gifts from friends and family while we were in California. So many, in fact, that we had to mail boxes of things back home when we left California. While in California, we even saw how amazing the military family can be even when you don't personally know people. There is a reserve unit in California whose job is the same as Gary's. A few of the guys from the unit there came to visit and bring us breakfast and offered any support we needed while we were there. It's amazing how small the world feels when you have even the slightest connection with those around you. California really felt like a home away from home for us.

Of course we have also been blessed with a selfless gift from a family who lost a child. I still think of that family daily. They have truly made our lives, especially Evan's, better! :) I still am so thankful for the amazing gift and selfless act this family chose to give during a time of pain in their lives. People have asked if we plan to write a letter to the donor family. I am hoping to do so at some point. Just not sure when I will be ready and when I will have the words to tell this family how grateful we really are for their gift.

Evan is doing very well! Active as ever and learning new things every day. His liver is functioning beautifully and the doctors are very pleased with his progress. He will hopefully be starting swim lessons in a few weeks. Evan's favorite things to do include tormenting the dog, eating cheerios, and watching Mickey Mouse Clubhouse. He also loves to play in water (hence the swim lessons).

Going home!

We received great news today! Evan's virus is either down to very little or zero (the test wasn't conclusive so they will run it again). Either way, we are heading home on Sunday! The team determined that Evan is well enough to go home and that if he needs anymore treatment it can be handled in NM! We are so thrilled to be going home. We now have so much to do to pack and get everything back. We stopped by the Ronald McDonald House today to say farewell to a few of the people we met as well as give them some of the food we won't get to eat since we are leaving. We also donated some of the feeding tube medical supplies we had received and are no longer using.

Almost home....

Evan's biopsy did end up indicating mild rejection. The docs increased his prograf and his numbers have been normalizing ever since. He is continuing to do well. As of yesterday, the doctors are planning to send us home as soon as Evan's adenovirus levels hit zero...which may be now. We are waiting on the results of his blood tests taken Wednesday evening. Hopefully we will have them in the next couple of hours so we can determine what our plan will be to get home. If the results are not at zero yet then we will continue with Cidofivir treatments tomorrow and again Tuesday and hopefully head home by the middle of the week. Either way, we are almost home!

We were able to get a little sightseeing in this past week. On Saturday we went to a park called Happy Hollow. There was a zoo and a small park. Evan got to ride on the dragon train. He loved it! :) On Wednesday we went to the Monterey Bay Aquarium. We had an awesome time! Evan really loved the penguins! A couple of them would swim up close to the glass and interact with the kids. There was also a really fun toddler area where Evan got to play with some plastic fish in the water and some other fun things. He also got to try some new foods. He ate bread and butter, french fries, and even a few bites of my fish at lunch. Oh...and he doesn't have an NG tube anymore! He has been eating pretty well without it. He doesn't like milk, but he does like chocolate milk! He also does well with his pureed baby food. He still struggles with thicker foods and chunks, but we are working on that and he is getting a little better each day. This is probably a result of the fighting him to eat for so long. We will get through this..and if it's one of the biggest obstacles we have left, that's okay by us!

I will update when I know of our return date home! Thanks for the continued prayers. Evan is doing great!

Liver biopsy

Evan has been enjoying his time away from the hospital. We took him to a local park where he loved the swings and the slide. He does not, however, like grass. I guess that is what happens when you live in the desert. Lol! Evan has been back to himself running around and playing with his toys. He has started to eat some things by mouth. He likes pretzels and yogurt. On a different note, the virus that Evan has has decreased from over 1,000,000 down to 3,000. That number is from Tuesday, so it may even be lower now. The sad thing is that because of the virus his anti rejection med levels have been kept very low. His liver numbers have now increased so they did a liver biopsy. We should know the results tomorrow. The doctors believe that the numbers are likely due to the low level of anti-rejection meds which would then mean that his liver is showing signs of rejection. Although that word can be very scary, it is very common for patients to have bouts of rejection in the early months post liver transplant. They are treatable and the liver goes on to function normally after treatment. We were anticipating this possibility so are not completely surprised at this result. More disappointed than anything. We know that Evan will be okay... It's just a matter of time

DISCHARGED!

Evan was officially discharged from the hospital yesterday. The doctors had a discussion about it and decided that there was nothing they could do at the hospital that we couldn't do with outpatient care. Evan will continue to have cidofovir treatments 3 times a week for the virus until it is gone, but at least he gets to sleep at the apartment with us and be with us here every day! So much better than him being stuff in the hospital all day every day.  Our first night went well. Evan slept so much better than he has his entire time in the hospital and woke up cheery and ready to play. Definitely must have something to do with the fact that his vitals weren't taken over night and nobody drew blood from him this morning. We still have a road ahead, but I am grateful that we are all sleeping under one roof now!

Disappointed :(

Not sure why I keep getting my hopes up that we will get out of the hospital any time soon. Evan's adenovirus numbers jumped up again to 600,000. The doctors are not worried as they said this is typical of the virus and that the treatment takes time. The fact that it didn't jump back up over 1 million is a positive. They will do another course of treatment tomorrow and then will retest him on Wednesday with hopes of having him out of the hospital Thursday. All they are looking for is a continued trend in the numbers dropping for us to get him out of the hospital and then he will continue his Cidofivir treatments as an outpatient. I wish I had better news, but right now the good news is that Evan is super playful and acting like himself! :) I'll update again when I can, but for now we are staying in the hospital for a few more days at least.

Address in California

Many of you have asked for an address to which to send things for Evan. We anticipate being here at least another month. Our address will be:


555 W Middlefield Rd.
Apt D104
Mountain View CA 94043

Quite a jump!

Just had to post...just got the results from Evan's bloodwork from last night and after only 1 cidofovir treatment the amount of virus in his blood jumped from 1.2 million to 200,000!!! That is a jump of over 80%! That means that less than 20% of the virus is left in his blood! :) The treatment is working! This means we are one step closer to getting out of this hospital! Woohoo!

Adeno...What?

Sorry for the delayed update. Things were going well with Evan and we were getting ready to go over all discharge directions and head to Ronald McDonald House...that is until Monday when we found out that Evan's cultures from Friday showed adenovirus in his blood. What exactly is adenovirus? Well, it's just a virus really. Much like any other virus it causes colds, flu like symptoms, fevers, sore throats...in normal people that is. Of course, as will any illness, it can be much worse and can cause many other issues in immune compromised people (like Evan). Because of Evan's positive test, the docs wanted to begin treatment right away so that his body could get rid of the virus. They started first with IVIG. (Intravenous immunoglobulin) This is to help increase the effectiveness of Evan's immune system. Unfortunately, after one treatment his levels of the virus increased instead of decreased. This baffled all the doctors and nurses since clinically, Evan was presenting great. He has been getting happier, more active, and more playful every day (since his fevers stopped last week). The Physician's Assistant said when she saw the results she kept thinking there had to be a mistake and even called to make sure it was correct. Either way, the fact that Evan is presenting well is a really great sign. Since the IVIG didn't seem to work for Evan, the team decided the best treatment would be cidafovir. If you look it up on the internet, cidofovir can have some really serious side effects on the kidneys. Because of this, there is additional treatment that goes along with administering cidofovir that helps to prevent this damage to the kidneys. Evan is responding well and his kidney functions are awesome with the preventative meds. His liver functions are also GREAT and the docs are really pleased with how his liver is doing.  The plan at this point is to continue with the cidofovir therapy to reduce and eliminate the virus. The docs are hoping for Evan to only do a couple of more inpatient therapies (every 48 hours) and then he will continue them outpatient until the virus is completely gone. So far so good! Hopefully not too much longer til we can get him out of the hospital and staying with us.

On that note...we had to move out of Ronald McDonald House :(  Because many of the children staying at RMH are also immune compromised, Evan cannot go there until he has ZERO virus in him. We are sad to be leaving the support system we have created there. We have met some wonderful people who completely understand how we feel and what we are going through. On the other hand, we are excited to get to some sort of "normal" instead of being in the hospital all day every day. We found a very nice furnished one bedroom corporate apartment not too far away and rented a car (15 minute drive). The apartment will be more comfortable for the three of us and it will be nice to have our own space. We will most likely be there for another several weeks if not longer since Evan will need to continue to go to Liver Clinic to have his numbers checked and his medications adjusted. He will also most likely need to continue with the Cidofovir treatments as well since it takes time to completely rid a body of a virus.

For those of you who have sent things to RMH, we will be stopping by there a few times to check on mail and they also know to call us. As soon as I have a good mailing address for the apartment I will send it out to everyone. Thank you to everyone for the continued support! Much love to you all! 

"Wash Out"

Evan had his surgery today to drain the hematoma exiting near his liver. The hematoma contained mostly blood and fluid. The docs did a liver biopsy (pretty standard post transplant) and a washout to clear out any possible lingering infection. We still don't have any cultures back from the fluid, but the docs don't think it was concerning. Hopefully this procedure will have cleared out whatever is causing Evan's fevers and he has no more so we can get out of the hospital soon. The surgeons said that Evan's liver is working beautifully! We are so pleased to know that! The next couple days will be telling as to whether or not the hematoma or a possible bug in Evan's belly were the cause of his fevers. Evan is doing well and resting (thanks in part to some pain meds).

While Evan was in surgery, JR and I were able to walk the campus a bit. Stanford has a beautiful campus and the church in the center if campus is absolutely stunning! It was nice to get some fresh air and a bit of a refresher to get ready to tackle these next days if recovery. All is continuing to go well. This was just a hiccup in the road to full recovery.

UPDATE

I know many of you have probably been checking daily and waiting for the next update. Things have been busy (as to be expected).

Evan was officially transplanted on March 18th, just one day before his 1st birthday. The days that have followed have been filled with many emotions. Evan's recovery started out very well. He was out of the PICU in 3 days (Wednesday March 21st is when he was moved) and the nurses on the regular floor (3 South) were so excited that he was back up so quickly! Just two days later on March 23rd, his bile bags were removed. Evan was still doing very well. He became more and more active each day and was responding well to his medications. His liver functions were normalizing as the docs wanted. Everyone was very pleased with his progress.

Unfortunately, the luck seemed to stop there. On March 24, Evan spiked a fever of 101.5. The docs immediately ran blood and urine cultures and started him on antibiotics. His blood cultures grew quickly and they believed there to be a contamanent on his central line. They decided it would be best to remove his central line and did so the next day, March 25th. Evan spent all of Monday without a fever. Unfortunately, by Tuesday evening his  fever was back and full force at 102.5. Another set of cultures were taken and a CT and Chest Xray were ordered.

This afternoon of Wednesday, March 28th, Evan received a chest and abdominal CT as well as a PICC line insertion. Not long after the that was done,  the docs were certain they knew the cause of Evan's fevers....there is a hematoma next to the cut portion of his liver. They need to go in tomorrow to drain them. This means that Evan will once again be sedated, intubated, and have his abdomen cut open. It sounds so simple being written out, but it's really not. It's scary to know that once again Evan will be going into major surgery. All I can do at this point is pray and ask that you all do the same. Pray that Evan is strong and can handle this surgery. Pray that this hematoma is the cause of Evan's fevers and that once drained we will not experience any more hiccups. Pray that the Lord guide the hands of the surgeons and watch over everyone in the operating room.

I can't say that I didn't expect hiccups...I did. Having talked to many parents who have been through transplant for MSUD, I know that there are many different challenges that we can face...especially at this point of transplant. However, I also know that parents who have faced even  bigger challenges with the liver transplant still would tell me that I am making the right decision. I know families who almost lost their children during recovery and faced many hiccups on the road to recovery. The same families have told me that despite the difficult recovery, they would still choose transplant over MSUD.

Regardless of expecting hiccups, I can't say I am not scared. I am extremely scared, but I also know that the Lord is here with us and will guide us through this as he has before.

On that note, I am going to head off to get some sleep. I need to be back at the hospital early tomorrow. (Tonight is my night to rest at Ronald McDonald House). I'll update again when I can.

"The Call"

At around 2:00 yesterday afternoon we received the call we have been waiting for. I was told that the surgical team had accepted a liver for Evan and that they wanted us to come soon even though the surgery wouldn't be right away. They were worried that there was potential for bad weather that would make it harder to get into Palo Alto.

The flight over was uneventful. Evan had a hard time on the flight. It didn't seem he understood what was going on and was upset until the flight nurse switched seats with me so I could sit next to him. Then he was calm for the remainder of the flight. We flew in to Moffett Air Field and were met buy an ambulance which took us to the hospital. Evan didn't seem to mind the ambulance ride too much.

Once we arrived at the hospital, the craziness began! We were quickly brought up to the floor where the nurses checked all Evan's vitals, started his IVs, and just basically poked and prodded for a bit. We were told that Evan was scheduled to go into surgery at 7am, although anything could change. He was not allowed to eat after midnight, but they put him on his D10 IV and gave him lipids (fat) to keep his calories and fluid up. The night was difficult, Evan couldn't sleep and of course that meant we didn't sleep much either. Come 6:00 am we were wondering why we hadn't heard from the nurse or the docs about when we would be taking Evan down for surgery. By 6:30, we found out why. There was a delay in harvesting the organs and the surgery had been pushed back. No one could tell us what time, as the donor organs were still not harvested.

At this point, we are still waiting. The surgical team feels confident that this liver will be good for Evan. All they could tell us is that the donor is in the 5-10 year old age range. This most likely means the liver will need to be cut a bit to fit into Evan. Of course with this, there comes added risk for infection and bile leaks (all which are treatable).

This is not how I pictured this would go. I pictured we would get here and within a few hours Evan would be in surgery while we anxiously paced the halls.  Instead, we anxiously wait in a tiny and noisy hospital room with no clue as to when his surgery will be. It could still be tonight or it could be in the morning. All depends on the donor and what is taking place on that end. The team here is ready...so are we!

Of course, it is difficult not to think of the sacrifice the family of the donor is making. They have lost a child, yet they choose to make an unselfish decision and share his/her organs so that children like Evan can grow and hopefully have a wonderful healthy life. I cannot imagine the grief and pain this family must be feeling. I pray that God can give them peace in knowing that their child did not die for nothing. That in their child's death there is healing for other children.  I am sure they have feelings on anger, sadness, and just plain frustration wondering why they are losing their child.  I wish that I could give them an answer. I wish I could hug them and tell them that out of this death comes new life. Would that even console them? I don't know. We were told that after the transplant at some point we could send a letter to the donor family through the organ procurement program. They could then decide if they wanted to meet us. What would that be like? Would they even want to meet us? Would we even write the letter? It's something we will think about and most likely will do down the road when Evan is recovered and doing well. I have seen videos of donor families meeting recipient families and they are quite emotional. I don't think we will be ready for that kind of emotion for a while as we are still going through our own emotional roller coaster...and I am sure the donor family is too. 

Please pray that this truly is Evan's time for a new liver. Although everything seems to be in order, there is still always a chance that the liver arrives here and the transplant team decides it's not the right liver for Evan. We have faith that this is his time and that God has a plan for us, Evan, and the donor family. 



I will leave you with this, "The measure of a life, after all, is not its duration, but its donation"


The donation this family is making is immeasurable to us! It is the greatest gift that we will ever know! 

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!

Rare Metabolic Disorder Awareness ~ Glutaric Aciduria -1

In honor of Rare Disease Day, February 29, 2012, I am going to be posting some of the things I have learned about different metabolic and rare diseases. Most of these things I have learned by talking to other parents of children with rare diseases or reading about them on some of the sites I have been to.

The first rare disease I will showcase is Glutaric Aciduria

GA1 effects about 1 in 40,000 children. It is a rare metabolic disorder, much like MSUD, in which the body cannot breakdown amino acids found in protein. In GA1, these amino acids are lycine and tryptophan(that stuff in turkey they say makes you sleepy).  If you don't remember, in MSUD those amino acids are leucine, isoleucine, and valine. If these amino acids build up in a person's bloodstream they can cause brain damage or even death. Symptoms can include seizure, no appetite, vomiting, etc... What's difficult, is that even with perfect dietary management, a person can deal with the effects of GA1. Stress, childhood illnesses, not enough calories, teething, etc... can all cause levels to elevate. GA1 is often misdiagnosed as Cerebral Palsy or "shaken baby syndrome".

I am going to share with you a video that a parent posted to help teach about GA1. Dustyn was born with GA1 and this is his story:

You can also read the family's blog at http://rmdawareness.blogspot.com/

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.

Status 1B

Got an email this afternoon.
Evan is officially listed at Status 1B. Hopefully we don't have much longer to wait until Evan gets his new liver! Now the real waiting has begun. I keep looking at my phone like it should do something. I am sure that from here on our every time the phone rings I will jump.

Is this really happening?

Each day the reality that Evan's transplant could actually happen gets closer and closer! Today I spoke with the insurance and got the name and phone number of the air transportation company that is going to transport us when we get "the call". Of course, as any mother would do I called them to get my questions answered (finally)!

Will both parents be able to be transported with Evan?
How do we get his carseat to Cali?
How much luggage can we bring?
How long will we have to get to the airport?
Where will be meet the air plane?
What kind of plane will it be?

SO MANY QUESTIONS!
Here are the answers I got...most likely, both parents will be able to go, but that will mean no luggage. (That's okay...I'd rather have my whole family together than my clothes anyway!)
Evan's carseat will be strapped to a stretcher and that's where he will sit for the flight.
We will most likely have about an hour and half to two hours to get to the airport.
We will meet the plane at the private fueling area of the airport. They will give us an exact address and phone number when we get the call.
It will most likely be a leer jet that picks us up.

Honestly..I am just relieved that we will most likely NOT have to worry about getting one parent a commercial ticket to fly out to California. That was my biggest fear..that we would not all go to California together. That one of us (most likely me) would have to sit alone in a waiting room while Evan was transplanted while the other was trying to make his/her way there.

Tomorrow Evan's status should be changed to 1B which is only below children who are nearest to death.  That means that this is really happening and it will be sooner rather than later. This means the wait is getting shorter. By how long...who knows.

We are still waiting and the waiting is anxiety ridden and frustrating.  The phone rings and all I do is wonder..is it? When will it be? How many more rings before it's the one?

Getting ready...

It's been a crazy week since family left. We have been getting things in order so that when we get "the call" we aren't scrambling to make sure things are taken care of. Bags are almost packed and directions have been given to those who will watch the house and the dog. Sadly...we still don't know which company has been contracted for our transportation. We know it's been approved, but we don't know who it's going to be which makes it difficult to figure out if we are all traveling together or if one parent will have to travel commercially (We are PRAYING that is not the case).

Evan had more labs drawn on Monday and along with that his current weight (8.97 kilo) and height (72.7 cm) have been sent of to Stanford so that his transplant list status can be moved up to 1B this Friday. I can't believe it's been almost a month since Evan was placed on the list for a new liver. Man, the time sure does fly! We are hoping the call won't come too long after the status change. The wait is going to be killer!

We had a tiny glimpse into what it will feel like the moment we get "the call". On Monday morning at 2:45 am our home phone rang. Of course it woke us out of  deep sleep and I jumped when my brain thought of Evan and his transplant. I kept thinking we weren't ready because he's not supposed to be eligible yet because of his immunizations. Once I answered the phone and realized who it was I relaxed for a moment. It was JR's work calling because they had a real world mission and needed him to go into work. An autistic teen had gone missing while hiking with family in White Sands NM.  He had been missing for more than 12 hours at this point and ground and air searches had been unsuccessful to that point. By the time Gary's crew had arrived the teen had been missing for several hours longer. However, an hour and a half into their search, they spotted the boy, who was in remarkably good shape. He was carrying a red sled (for sand sledding on the dunes). That is how they saw him.  Because the boy was in such good shape, they were able to return him to his mother rather than take him to the local hospital.

Here is a picture of the rescue crew and Angelo (the teen they rescued) 

I am so proud of my husband and his crew for a job well done!

Evan's Baptism Weekend

This past weekend was wonderful! We had quite a bit of family come to help us celebrate Evan's baptism! It was wonderful to see so many family members together since we haven't seen family for quite a while.

Friday family came into town, so we just had a spaghetti dinner at the house to enjoy some time together.

Great Aunt Bessie meets Evan for the first time! 

Evan meets mommy's cousins Alex and Lauren for the first time. 

Saturday was Evan's baptism day! What a beautiful day it was! We had a total of around 35 friends and family come to the church and then to lunch to help us celebrate! Thank you to each and every one of you for being a part of this special day for us.  The Baptism was beautiful. Evan cried a bit when he was submerged in the water in the baptismal font. You will see in one of the pictures that he actually held on to the table in front of him as if to say "don't put me in there again". (For those of you that don't know, in an Orthodox baptism, a child is submerged into the holy water 3 times).

Praying before Evan is baptized 

Evan is baptized! Can you see he's not too happy?

Being annointed with holy oil. 

Being changed into his new clean garments. 

Very dapper! 

Evan and Yiayia (my mom) 

Even being confirmed

Evan and his Nouno (Godfather)

Father Conan was wonderful and really shared the baptismal process with our friends and family. He explained the meaning behind everything and really did a great job making sure that we all understood what we had just witnessed. 

Father Conan teaching us all about the meaning behind Orthodox baptism

Evan listening intently to Father's speech

Evan and his Daddy!

After the baptism, we went to lunch at a local Greek restaurant, Yanni's. The food was FANTASTIC as was the service! I could not have been happier with how things turned out! 

Evan's beautiful cake (c/o Sam's Club)

                                         

Members of our Military Family
The Poes, Chases, and Franzes

The Sacks and the Ostroskis

The Frieszes and the Willinghams

Yiayia, Great Aunt Mary, Great Aunt Bessie, Great Grandparents, Alex, and Lauren

Father and Prevytera Conan with their son Nikolaus

Thea Georgia

Dad and Kristy

What a blessed day we had for Evan! :)