Results

I received some good news as I was grocery shopping today! Landon's nephrologist called to let us know what his Cystine level was when checked about 2 weeks ago. The test included a blood draw that was sent to the only lab in the country (in California). The lower the better! We are looking for his level to be less than 1. Landon's was 1.5! When he was initially tested in the hospital, his level was 2.4. Yayy! Over the past two weeks, we have increased his dose of Cystagon from 25 mg, to 50mg the next week, to 75mg this week. Our goal was to reach 125mg which is the appropriate dose for his weight. His nephrologist was okay with keeping the dose at 75mg. He has to have another blood draw next week so we will see what that indicates. Not only did we increase the dose, but we have been giving him the medicine right through the G tube instead of putting it in the bag with his formula. Hopefully that makes even more of a difference! I will continue to update!

There was a beautiful article written that I wanted to share: http://natalieswish.org/files/MHPFeatureMay2011.pdf

After Landon was diagnosed, Jimmy and I immediately began to do research and wanted to connect with other families and individuals affected by Cystinosis. I posted on a Cystinosis board and Nancy Stack was the first to respond to me only hours later. Another incredible woman, Denice, responded too which gave us a glimpse of the incredible support that we would find.

We also just learned that a pharmaceutical company, studying the extended cycle form of Cystagon (the drug that treats Cystinosis) just announced that this drug is safe and that patients can take a lower dose than Cystagon. This means that Landon, and others with Cystinosis, will only have to take the drug every 12 hours rather than every 6 hours. This means that at some point, we won't have to wake in the middle of the night to give the drug to him. Woohoo! If you are interested in looking at the research, feel free.. http://www.checkorphan.org/grid/news/treatment/raptor-pharmaceutical-meets-primary-endpoint-in-its-phase-3-clinical-trial-of-dr-cysteamine-for-nephropathic-cystinosis

This is why fundraising will be so important to our family.. We share Natalie's wish in that a cure is found in Landon's life time!

Our "big" boy and toddler antics!

It's a beautiful day here in Pittsburgh!! Landon is napping and I really want to go for a nice long walk!! I hope that this next hour or two flies by so that we can have some fun!

So, in the mean time, here are so updates. Landon had an evaluation for Physical Therapy the other day. None of the doctors have expressed any concern about him not walking yet, but Jimmy and I decided to be proactive and have him evaluated and work with him a little bit. The therapist was pleased with a lot of his development. She watched him cruise along the table and choose different toys to play with. He flirted with her a bit until she tried to lay him down on his back. He HATES having to lay down. Diaper changes consist of two minutes of him telling me off and trying to get away. I told her not to take it personally! The appointment occurred right at nap time, which all you parents know, is just a parents worst nightmare. But overall, he did well. We are going to go to PT once a week to work on getting him to stand independently, walking, going up and down stairs. I'm excited about it. I think it'll be a fun appointment to go to and at least we'll know that we are encouraging and supporting him in reaching these new milestones. And don't worry, we didn't schedule the next appointment for nap time!

Today we went to Landon's pedatrician for a weight check. We have been going weekly and last week we were pretty bummed because he didn't gain any weight. Well guess what?! He is up 5.8oz in one week. Go Bubba!! He now weighs 16lbs, 15.8oz. C'monnn 17lbs!! It's exciting to look at the growth chart because he isn't too far off the mark. And what we have to our advantage now is that kiddos at this age are usually slowing down a bit so it gives him an opportunity to catch up! He actually can wear a few 12 month outfits. I have to admit that it was a little depressing to look at all of the adorable short outfits in his closet that he got for his birthday and knowing that he wasn't big enough to fit into them.

So of course, Brooke (Landon's pediatrician) was pleased with his growth, but she was also pleased with his little toddler antics. He decided that he was over being in the room so began to squirm and yell and cry and kick his feet. I told her that he has become a bit more "tantrumy." It's not a word, I know.. She just loved it. I'm glad someone does! She said that it is perfectly normal and that he is getting a taste of independence and desires it. How's that for looking through rose colored glasses? =0) All joking aside, I have to turn my head and laugh when throws these little fits because it seems like I just shook his world over something like telling him that he can't pull on the blinds or play with my sunglasses. You'd never know that this child has larger issues to be concerned about!

He is still having the belly issues that I mentioned in the last post, but I spoke with the nephrologist and the GI doctor and we have a plan to change the medication for his phosphorus and we are extending his feeding time 15 minutes so maybe it'll be easier on his belly. There is still not talk of weaning from the feeding tube at all, but that's okay. We will continue to encourage him to eat and hopefully once he gains a couple more pounds, we can consider it.

I also recieved lots of feedback, after the last post, about switching to cloth diapers. I think we are going to try it out. I know a few people who love cloth diapers and who are excited to show us the ropes. I'm looking forward to it!!

You are reading the words of one tired mama! We had such a busy, and very enjoyable, weekend. I had some more girl time at a very good friend's bridal shower on Saturday and then we had a 50th birthday party for another great lady in the evening! So much fun, and Landon had a great time at the birthday party. There was a gentleman who played the bag pipes and Landon listened in awe. He clapped randomly through the few minute performance. Very cute! And today, we went to Landon's first Pirate game. He looked so cute in his Pirates shirt and hat. He clapped and yelled (particularly loud during the National Anthem, sorry to say!). He was very cute though and entertained the people around us. I have to add that we were seated in the Lexus Club, right behind home plate, and definitely enjoyed the seats (thanks to Jason, Jaclyn, Jason and Jamie). We had a DELICIOUS lunch before the game and great seats with first class service!

On a less fun note, Landon has been having some issues with bodily functions. I guess I can put it that way. Hey- you want updates, right?! He has not been having healthy bowel movements(bm's) for quite some time, and particularly since starting his meds in the hospital, he has experienced lots of diarrhea. It improved a bit once his meds were tweaked a few weeks ago, but seems to be not so good again. It's not as often and as much, but it still happens every few days and that's all we get as far as bm's- not good! And now, he has started vomitting a bit. It definitely is not like it was before he was hospitalized. He used to vomit his entire feeding. That's not the case, usually, but it is still enough that it is concerning. I, at first, was afraid that his G tube moved out of place (vomitting and spitting up is one indicator that it has), but it does make sense that what he is taking in has to come out and definitely isn't coming out in the other direction. I spoke with the nephrology fellow on call over the weekend and he agreed that it makes sense that it is the medicine but that he would rather wait until Monday when the doctor who knows Landon well will be available to make the decision about his meds. So, we will see what Monday brings... Another interesting observation that I have made is that Landon seems to be producing more urine lately. We change him pretty often during the day so I don't notice it, but at night, he is definitely soaking through diapers. I began putting him in a larger size diaper at night (size 4) at the recommendation from my expert mommy friends on Landon's birthday club board. It worked for a couple of weeks, but he has even soaked through those diapers over the pas week. Ahh!! Jimmy laughed at me, but I actually put a size 3 diaper on him last night, with a size 4 on top of that. His jammie bottoms still fit over it, and his pants and sheets weren't soaked when he woke up this morning. Hopefully this continues to work. If anyone has any other suggestions, please let me know!

As for appointments this week, he has an evaluation with Physical Therapy tomorrow and a weight check on Wedensday. I scheduled PT to be proactive. I don't think he is necessarily behind yet but I want to make sure we stay ahead of the game. He is not walking yet, but I don't think anyone would be concerned yet even if he were not diagnosed with Cystinosis (and Rickets). He cruises along furniture, pulls himself up and stands holding onto furniture (or people... or Rocky...), and walks while holding onto our hands.

We planned to skip his weight check this week but he didn't gain at all last week so I didn't want to not go this week. Hopefully he has gained since we were last there. He was 16lbs, 10oz last Wednesday.

I will update more later this week! Thank you for taking the time to check in!

Thank you...

Good news!! A good friend gave me such an awesome surprise- she asked a very talented jewelry maker friend of hers to design a Cause Bracelet for Cystinosis. I received this news Saturday night (my birthday was Sunday). It was absolutely the best birthday present! $5 of the proceeds from each bracelet sold will be donated to Cystinosis Research. The link is: www.cathyscreationsjewelry.com. Go to "Cause Jewelry" and then search for Landon Cystinosis Bracelet. It's beautiful, right?! Sorry guys- it is pretty feminine looking.

Not only did I get that news, but another good friend of mine called me on my birthday to tell me that she has been working on establishing a foundation in Landon's name. I don't know much about fundraising yet, but she said that she knows someone who did it for another cause and that it makes it easier to get support from businesses and local celebrities when we do have events. She mentioned that a "Casino Night" was held for this other group among other events... How cool is that?!

In addition to all of this, my dad's friend spoke with a local bar owner who is willing to host an event at his bar. I'm not sure exactly all of what it will include because I've never been to a charity event at his bar, but I'm very excited to learn the details. I know that it involves guest bartenders though (I will do you all a favor and will not fill that role!)..

So needless to say, I am thrilled and very excited to get started on all of this. You probably won't hear much until the fall because we have some pretty special events coming up in September.

The generosity that our family, friends and even people who don't know us so well have displayed is more than we could ever imagined. For everyone who has sent us a card, offered money and gift cards, visited Landon in the hospital and at home, searched Cystinosis to learn more, prayed for Landon and for our family, called us, thought about us, read this blog... thank you... Your generosity and support is priceless... Where would we be without you?

A little reminder...

I drove passed a local church the other day and the quote on the sign in front of the church really stood out to me... It said, "Be a blessing." I continue to remind myself to focus on all of the ways in which I, we, are blessed. There are plenty! But, I don't often think about being a blessing to others. I should...

Inspiration

I have come across some of the most incredible people with the best attitude since being introduced to those in the Cystinosis Community (through the internet)... People who are so knowledgeable, so passionate, and just good people, to the core..

Our baby is thriving despite this diagnosis... and we have those who have come before him to thank. I have to share with you a post from the mother of the first patient who was administered cysteamine (now Cystagon- which is the drug that is used to treat Cystinosis).

"Just a little info. about cysteamine (now cystagon). Krista Mund was the first patient to be administered cystemine in 1978 at University of California, San Diego. Dr. Schneider had tried it on one other patient who was already in kidney failure and she had a very bad reaction. The day the first very small dose was administered Krista was surrounded by nurses, doctors and a crash cart in case she had a bad reaction. Each day the dose was increased by a very small amount so as to come up with a base level which would remove the cystine without side effects. This process took 9 weeks of hospitalization. Because of Krista other children were started on the cysteamine which was a very bad tasting powder form. The rest is history and we are so proud that Krista was a pioneer in using this drug that is now helping others all over the world."
Posted by mother (Merle Mund)

Pretty unbelieveable story, right?

This forum, that I have become a part of, includes people from all over the world.. I have chatted with a great man from Chile. There is a woman from the U.K. who has two beautiful daughters, both who have Cystinosis... I wish I could mention all of the incredible people. I have been reminded, through this forum, how lucky we are to live here. Some people regularly go through great lengths to get this drug that ultimately will save their child's life. It just should not be so difficult!

I can only hope that Landon inspires others in the way that these people have inspired our family!

Mama Called the Doctor and the Doctor Said...

Well, we had our 4 doctor's visits this week.. Landon did well, but gets very upset any time a doctor or nurse comes near him. I just know that he relives his hospital visit when we go to these appointments. Before that, he used to love getting weighed (because it meant that he could be naked!) and seemed unphased.. Not so much anymore. It may just be that he's getting older but I think that he remembers too much. However, he does smile and is pleasant, as long as they stay out of his personal space!
We learned this week that Landon's levels are all within normal range except phosphorus. We battled keeping his phosphorus at a 4 (not sure of the unit) while in the hospital and when they checked this week, it was a 1.9. The nephrologist asked if we could give him the Neutra Phos at night when he gets his Cystagon as well. We started doing that on Wednesday so hopefully it'll make a difference. I also have transitioned from putting all of his meds (except Prevacid) in the bag with his formula (so easy!) to putting it directly into the G tube. I knew that I needed to start doing this but was so anxious because it seemed to make the most sense to give him the meds right before he is hooked up and gets a feed but I was afraid to give it to him then because he wouldn't have a full belly. The nephrologist assured me that his belly is not empty from one feed to another so he shouldn't have a hard time. She was right! He has not (knock on wood!). It was certainly a sight to see me trying to put the meds in the tube. I would put it in only to have it squirt back at me. All of you nurses make this all look so easy!! Anyway, I was incredibly frustrated so Jimmy got on You Tube and watched several video demonstrations. Then, ta da!, he realized that I was not clamping the tube right after I placed the medicine in so it was shooting back up at me. It also helps to hold the tube upright so that the medicine goes down rather than holding it horizontally. I administered his bed time feeds by myself and it went well. Except for Landon trying to throw the syringes on the floor *sigh*... Haha..
One other tid bit to mention, we learned at his nephrology appointment that he does in fact have rickets. This is not surprising and, from what I understand, not all that uncommon for those with Cystinosis. Usually rickets is a result of a Vitamin D deficiency, but in Landon's case, it is a result of a phosphorus deficiency. Fortunately, he is being treated for this deficiency so it will not cause any lasting problems. He is not bow-legged because he's not yet walking so is not putting enough pressure on his legs to create a problem.
I have asked over and over again if he could not be walking yet because of the things that are going on with his body. No one has confirmed this but at this point, I certainly believe this to be true. Now, I am certainly not a mom who panics because her kid isn't doing what the other kids are doing, but I do want to know in what way this is affecting him. We are not stressing and pushing him to walk. We know that he will when his little body is ready. And besides, he is fast enough on all fours!!

Sorry Daddy!

I, again, did not plan to update tonight but had to share a story...

Before I tell the story I will say that Landon had an appointment with the GI doctor today. It really just ended up being a "check how things are going..." type of appointment. GI wants to consult with nephrology to see who should make decisions about his feeds and so forth. At some point, we will begin weaning him but we're just not sure if nephrology will want to make those decisions or if they will pass the buck to GI. So, nothing too exciting to report except that the GI doctor is pleased to hear how well he is doing and said that he looks great! The one big unfortunate thing is that the appointment was right at Landon's nap time so he didn't get his usual 2-3 hour nap today. Surprisingly enough though, he remained in a good mood and still had a pretty pleasant day despite a short, half hour nap in the car going home.

So onto my story... I picked my mom up to go to the doctor with us today. It's so helpful to have another pair of hands, especially since he was getting fed from the feeding tube while we were in the car going to the appointment and continued while we were in the waiting room. My mom then came home with us, we had dinner with Jimmy and Landon fell asleep around 6pm. Since he was asleep, I figured that I, instead of Jimmy, would take my mom home to give Jimmy some time to relax after work. I came home to find out that Landon woke up 5 minute after I left screaming and hysterical. Jimmy found a disaster of a diaper that went all the way down his leg and up his back. Yuck! So, Jimmy changed him, rocked him, read him a book and attempted to put him back in bad. No luck! He continued to scream and scream. Jimmy finally left him to sit in his crib, knowing that it had to do with the fact that he was overly tired. Poor Jimmy was frazzled when I got home and Landon was still screaming. Nice break, huh?! So, I got him out of his crib and prepared his night feed. I also gave him Tylenol since he is still working on cutting that bottom molar. He has woken up screaming like he did tonight for the past 4-5 days. Anyway, I put Landon on the floor to check to make sure that there was no poop missed (Landon wasn't making the diaper change very easy and Jimmy wanted me to check!). As I was doing this Jimmy walked in and laid on the floor next to us. Landon got a huge smile on his face, crawled over to Jimmy and wrapped his arms around his neck and gave him a big hug! He even began patting his back. It was sooo cute!! Up until this point, Landon has only initiated a hug and the comforting "pat on the back" with his big cousin Jillian. It was almost as if he was apologizing and reassuring Daddy that he did a good job and that all is okay. Jimmy admitted that it was all he needed to make up for a not so fun time!

Grow Bubba, Grow!

I was not going to update today but I am feeling good about his 15 month check up so thought I would! Last week when Landon was weighed at the pediatrician's office, he weighed 16lbs, 4oz. When he was admitted to the hospital on June 1st, he weighed 14lbs, 6oz. We were pleased that he gained 2lbs in a little over a month. Well today he weighed 16lbs, 11oz! That's a gain of 7oz in only 5 days. Yay Bubba!!

He is 27.5in so is not on the growth chart at all for length and weight, but is in the 75% for head circumference. It's great because it means that his brain is developing but is so funny to think about. No wonder I have to squeeze his little bean head into his 6-9 month clothes! Okay, well I guess he doesn't have a little bean head but I will still call it that!

I also found out why he has been waking in the middle of the night screaming and crying. He got one of his bottom molars and the one on the other side is poking through. It's so strange. He wakes screaming and I give him a drink, we rock for a couple of minutes and read a book and then he goes back to sleep. Poor little guy! I think he has 12 teeth now. I'm beginning to lose track. Terrible mommy!

The pediatrician is pleased with his cognitive development as well as his fine and gross motor skills. He's still not walking although he cruises along the furniture like a champ. Poor Rocky (our 4 year old Puggle) can't catch a break! Who knows if not walking is related to the Cystinosis or if it's just that he's not quite there yet either way, it gives us a little more time before he totally takes over the house! Other than the walking, he seems to be right on track. I belong to an awesome online Mommy community so I get to keep up with what other kiddos his age are doing.

I will update later this week after the rest of his appointments. We're adding a blood draw to the list of appointments for the week. He goes on Wednesday to have his Cystine levels checked. I'm actually pretty anxious about this! I don't know why?

Our New Normal

We are well on our way now to getting back to normal. We had a busy weekend and celebrated some pretty great events- a graduation party, a birthday party and mommy got some girl time at a bridal shower for Landon's future aunt! We were able to keep on schedule with his feedings and medication which made Jimmy and I pretty proud! He's such a 'go with the flow' kind of kid which makes it much easier to handle these extra tasks. I was away from him twice in the past 3 days, on Friday for about 2 1/2 hours and today for 6 hours. I haven't been away from him for more than about 30 minutes since he was hospitalized June 1st. Jimmy handled half of the feedings and meds on his own today and did a great job. It sounds like they enjoyed some male bonding time! I guess it's probably nice to have 'guys only' sometimes.. =0)

He has his 15 month check up schedule for tomorrow with our favorite pediatrician! We owe her a lot for being so persistent in getting Landon to see specialists that, in the end, resulted in a diagnosis and answers! She is great at what she does and has such a huge heart. We always feel so special when we go to see her. He also had an appointment with his nephrologist (who also gets a gold star in our book!) and the gastroenterologist (whose good thinking is what led us in the direction of getting the diagnosis). We are so thankful for so many people, as you can probably tell. I'm not sure what to expect from our first outpatient appointment with the nephrologist. I do know that I have to sit down and make a list of questions that I have for her. And, I kind of hope that the gastroenterologist will cut back on his daily bolus feeds a little (not too much!) so that he can have the opportunity to feel hungry and maybe eat orally. We ran a little behind schedule on his feeding this morning so when he woke up, he felt hungry. He happily ate some vegetable vegetarian soup (about 1/2 cup) and was taking some bites of my cereal. I was so excited! I will update to let you all know how these doctor's appointments went.

I have to add, I can't believe he is 15 months! I decided to resume taking monthly pictures of him. This is something I did from the time he was 2 months until he turned one year old. You can see changes but certainly not much growth during the second half of that year. It will be exciting to watch him actually grow in weight and length now! I forgot to take the picture on Friday, for 15 months, but will do it tomorrow. And, will hopefully post the pictures on here each month!

It's been a little while...

I'm sorry I haven't updated in a little while! The good news is that I haven't because we've been busy and having fun! We got to spend lots of time with family and great friends over the holiday weekend. I am beginning to get more comfortable with being out of the house and doing the bolus feeds. It's not easy and I recheck over and over again to make sure that I pack the right meds, the right syringes, enough formula etc, but it's definitely worth the extra effort because it's nice to be out and feeling normal again!!

Before I say more about Landon, I have to say that I appreciate all of you who keep up with this blog. I'm amazed by the number of people who tell me that they read it regularly! It's so incredible. So, we thank you for caring about Landon and our family so much!!

Now, as for the wild child.. yes, he is wild! And although he wears me out, I enjoy every minute of it! He's our little energizer bunny. The look on Jimmy's face is priceless as he watches him jump all around on our bed or crawl at lightning speed through the house. We actually feel like we have a toddler in our house now. There are books in the kitchen and tupperware bowls in the living room... He picks up our cell phones, puts it to his ear (he actually attempted to hold the phone in between his ear and shoulder the other day) and says "hewwo" with a very serious look on his face. He has his favorite books that he insists that I read over and over again. He, very clearly, understands the word No, and continues to challenge me over and over again all day long. I often have to turn my head to laugh so he doesn't see me. It's not that he wasn't doing a lot of things before he was diagnosed and put on medicine, but everything it's happening so much more and is more exagerrated now. I thought that he was fun before, but now he is such a blast!

I also want to add, because many people have mentioned, that I have been in contact through the internet (facebook, e-mail, community forums) other families and individuals who have Cystinosis. There is such an amazing connection and incredible support. They are so bright, well informed and so passionate. Jimmy isn't involved in Facebook and those kind of things like I am, but he reads the forums and we talk all the time about our new friends. I wouldn't wish this disorder on anyone, but am so thankful that there are awesome people out there who have been there and can be there to listen (read) our vents, answer questions and offer kind words and support. We cannot wait to eventually meet our new friends at the yearly conferences!! I am so inspired by the adults who were diagnosed at a time when they didn't know so much about the disorder and how to treat it. They, along with incredible doctors and researchers, are the reason why Landon won't have to face some of the hardships that were faced by others. I am inspired by the parents who serve as advocates and caretakers for their children and am absolutely inspired by all of the babies, kids and teens who face each day with big bright smiles on their faces despite having to take medicine and not feeling so well... One woman is writing a book about her experience and I can't wait to have the opportunity to purchase it and will definitely post the information about it on here when it's available.

At some point, I promise to upload some pictures and make the page prettier. I'm not so good at all of this yet!!!