Landen's Update

Wednesday, March 30, 2011

The Global Foundation for Peroxisomal Disorders

Just wanted to add that there is a Global Foundation for Peroxisomal Disorders and they have started their website up so please take a moment to visit

http://www.thegfpd.org/

March Update

Well that's it March is just about over! We did a lot this month with Landen starting PT and OT, getting new molds, meetings with the school district, some fun crafts and just our normal stuff. But mostly this month we just hung out together at home.

Lets start at the beginning. I already posted about our trip to Flagstaff. So next was PT and OT! They are going so well! Landen had one week where he was incredibly cranky and upset and wouldn't work with the PT. Turns out he was getting new teeth which always makes him into Mr. Grumpy Face! The PT has been working on teaching Landen to use a walker we have been working with a front facing walker that he pushes but she really thinks that a rear facing one that he pulls will be better for him. So we are going to try one out and make a decision this week and then order one. The really aren't too terribly expensive so Scott and I have agreed to just pay out of pocket and get him one as soon as we can. We are also meeting with a orthotist on Monday to get an evaluation done for

Landen to get some braces for his ankles. His low tone has caused his ankles to twist in slightly instead of pulling up and straight like normal (the technical term is pronation but I don't use big "technical" words if I can avoid it). The PT would like to get him into SureSteps ( http://surestep.net/ ) but really its up to the orthotist and our insurance company. OT is going wonderfully the therapist just loves Landen! She only sees him every other week but she just adores him. Unfortunately we found out that she is a traveler and is only contracted with the hospital to fill into till they find someone new, which they did. He will still be seeing this wonderful lady until the new one is trained. I have meet the new OT and she is really nice but we will miss our friend. Its an hour drive home on Fridays so Landen usually takes his naps in the car.

Landen had a transition meeting with the school district this month as well. Transition into preschool at age three. I was told several times that if I chose not to send Landen to preschool it was an end to ALL

of his services and there was nothing I could do about it. We I knew I wasn't going to send Landen to preschool for several reasons... I don't think he would tolerate it, he's not developmentally ready for it, he is doing well at home, he "stresses" where there are too many people or too much noise, I don't think my three year old should be in school... Not that I think any less of mothers that do send there kids to preschool at three. But lets face it I'm a stay at home mommy who works really hard to give Landen absolutely everything he needs. I think I'm doing a good job or at least the best I can... and I think that he will do much better at home with me now then at school. I was just worried about him loosing PT/OT and therapy... I felt like they were taking my baby and giving me no choice because he needs these interventions. I was so ready to go into that meeting and fight anyone who would try and tell me he couldn't have services just cuz I

stayed home with him! But before I could even start the lady from the school district suggested a home based program. After 5 minutes of watching Landen and listening to what I said about him she felt like he would do best at home! The reason no one else thought he could do home based was because unless there is a medical reason why he shouldn't be around other kids then generally they don't do it. With Landen though because of his many disabilities and delays (and the fact that I work so hard with him) they felt that it would be best if he were to stay at home. I was so pleased so the rest of the meeting was just getting and idea of what services he needs and next month I will get to meet with the schools therapist and work out a plan.

Landen's new molds finally came in the mail

Monday not quite the colors I had in my head but I really like how they turned out! They are green and blue mixed together! They are much easier to see then his old ones. When they said blue sparkles I was thinking something sparkly-er and easier to see then his old ones were. I think they are dang cute on him! And I can tell a big difference he actually keeps them in for periods of time!

Hanging out at home is nice. We have been to the park once or twice but mostly its just us. Landen is doing so good. He is as happy and cute as ever! His new favorite place to be is on the table, he climbs up and plays and dances and if I let him he would fall asleep there too!

Brayden is growing as well he is so fast if I look away for a minute he is gone! The other day I went into the bathroom and when I came out he was gone took me awhile to find

him cuz he had locked himself in the boys closet upstairs! Poor kid was crying in the dark but then he did it again the next day! I love spending the days with my babies! They are my joy, my life, my love and my world! I'm going to start updating more regularly cuz I want to be able to share more of Landen and Brayden too... not just medically and a quick overview of our month but more of them. Trying to preserve this time in our life where we are happy, mostly healthy and together!

Silly Boys!

Sunday, March 20, 2011

Landen Loves Getting Wet

Little Landen loves it when I spray him in the face. I don't know why he is just silly like that! Poor Brayden doesn't like it as much...

Thursday, March 17, 2011

Landen Loves....

So today I gave the boy's their baths and dressed them for bed read them their stories and burst into tears... These are my favorite moments when I do little extra silly thing just because Landen loves them. In my mind I started listing the things that "Landen loves" things that years after Landen is gone I will always want to remember...

LANDEN LOVES
Landen loves baths
Landen loves to have his toes kissed when I put lotion on his legs
Landen loves to get dressed
Landen loves to swing
Landen loves to dance
Landen loves to sing
Landen loves to cuddle with his daddy
Landen loves play peek-a-boo
Landen loves when mommy lays next to him in bed to read stories
Landen loves when the book mark in his story book brushes on his face
Landen loves the park
Landen loves the wind in his face
Landen loves to close his eyes and run his hands across the grass
Landen loves to crawl the hallways in the church building
Landen loves to sit on his slide and in his high chair... he doesn't do anything just sits their and laughs
Landen loves to rock in the big chair
Landen loves to rub my tummy
Landen loves to close his eyes and feel textures
Landen loves to be sprayed with a spray bottle
Landen loves to have water dumped on his head in the bathtub
Landen loves to swim
Landen loves to get chased
Landen loves to get tickled
Landen loves kisses
Landen loves to laugh
Landen loves balls
Landen loves to ride in the car
Landen loves it when Mommy leaves the windows down
Landen loves it when Mommy's hair tickles him
Landen loves to sneak up behind people and play with their hair
Landen loves to try and walk between two people it make him so happy!
Landen loves to clap
Landen loves books
LANDEN LOVES DADDY AND MOMMY!!

Landen loves so many things in this life. and when he is happy you can see it in his face his whole expression lights up! Oh how I love my baby it feels so unfair to me! I love to share moment of happiness with both my babies! Brayden is getting to the stage where he has his loves too and I try hard to make sure that he gets plenty of his favorites in every day.

Sunday, March 13, 2011

traveling

So its been awhile since we have really done much traveling... things have calmed down since the first weeks after our diagnosis. But we got out of the house this last week a few times! We went to Flagstaff on Wednesday Little Landen's hearing aids were starting to give lots of feedback so we are getting new molds for him. Fir those of you who don't deal with hearing aids everyday like me the molds are the part that go into the ear itself and when they get too small there is feedback from the speakers and it causes an annoying sound. Also I explain for you this is how they fit new ones... first they stick a tiny piece of foam with a string attached into his ear. Then they mix the goo stuff (that is its technical name hehe..) and the squirt it into his ear. The foam prevents it from going too deep and also assists them in taking it out when the goo hardens. I wish I had pictures to show you... In the past Landen has been wiggly and screaming through the whole experience (wouldn't you?) but this time he actually seemed to enjoy it! He laughed and flirted with the audiologist and had a wonderful time. We ordered BRIGHT colors for his new molds electric blue mixed with lime green! It will be so fun... I know that some of you wonder why I wouldn't get clear or flesh colored ones that blend in? I've even been asked that question by Landen's doctors! Even Landen's very first pair were bright blue! I accepted from the moment I first saw them on him that these hearing aids were just a part of him. I never intentionally took them out for

pictures or anything like that (although there is pictures with him not wearing them cuz I can be forgetful or they were getting repaired) In fact I think they are darn cute! To the left there is the very first picture I took of him with his aids!

After our appointment we visited our friends who have a baby like Landen! We are so lucky to be able to see them when we go to Flagstaff! It was so fun to see them! Scott was upset that he couldn't make it. We talked and shared how things are going it seems that both Ezra and Landen have done quite a bit of growing in the last few months. Its so nice to be able to meet with them they understand our life better then most. We had dinner together and I ended up heading home a lot later then I originally planed.

Friday was our other trip this week Landen had his very first Physical and Occupational Therapies! We have to travel to Kingman for these every its about an hours drive for us. We will go every Friday for PT and every other Friday he will also have OT right after. Can I say again how much I love the ladies that help us! Landen had so much fun he was learning to use a walker this week we tried a front facing one next week we will try rear facing one. He practiced stepping and standing with the PT and we worked on strength, balance and textures with the OT.

They are so amazing with Landen but they also know what they are doing! We are excited to continue to work with them.

Coming up this week is two more trips Tuesday he is finally having his speech evaluation so he can start therapy and Friday will be his regular PT! Just thought I'd leave you with one more cute picture of my Little Landen in his dinosaur PJ's! PS don't forget to check out our St Patrick's day card below!

Happy St. Patrick's Day!

Just Click on Picture to Make Big!

About Landen

Landen is SIX years old! He loves loves loves his daddy (and his mommy too). After a long struggle he has learned to walk with the help of a walker. Landen was wearing hearing aids since he was 2.5 months old and did very well with them. But eventually he lost the last of his limited hearing. In March 2013 he received a cochlear implant that helps him to hear again and he loves it! This disease has kept him smaller then most babies his age but he has the personality and love to make up for it! His little brother passed him up long ago.

He loves to close his eyes and feel things I don't know if its because of the issues with his eyesight or a personality thing. He is not talking at all yet. Even though he doesn't have words or signs yet he knows what he wants and will tell you in other ways. I guess because I am his mommy and spend every minute of his life with him I understand him. I get to work as his interpreter with others. He is strong willed when he is trying to learn something and doesn't give up on something he has already put his mind to. Landen is a loving child who loves to cuddle. He will sit on your lap for hours is you are willing to play patty cake with him! I often come in late at night or early in the morning to see him lying next to his daddy stroking his arm. My favorite is when he sneaks up behind me to play with my hair! I've never met such a snuggle bug! We Love our Little Landen so much! He may not be destined for a long life but it will be a happy life!

About PBDs

Peroxisomal Biogenesis Disorders are complicated genetic conditions with many big words I will try my best to explain some basic concepts and include links to some websites to help you understand it. I'm explaining it the way I understand it please forgive me if I make a mistake this is a learning process with a disease that is rare and therefor hard to find information on. I will correct things if I come across new information.

Peroxisomal Biogenisis Disorders include three disorders Infantile Refsum Disease (IRD), Neonatal Adrenoleukodystrophy (NALD) and Zellweger Syndrome (ZS). The distinction between the disorders is based on severity Zellweger Syndrome being the most severe and Infantile Refsum Disease the least severe. But it is often impossible to put a child solely in one of these diseases. Landen is thought to be on the IRD end of the scale but he has also had blood work suggesting he may be more severe. For that reason we just like to say he has a PBD.

Peroxisomal Biogenesis Disorders affect every part of Landen's body. PBDs are caused when the part of the cell that breaks down substances the peroxisome does not work properly. Peroxisomes break down substances like long chain fatty acids. In Landen's case his cells are unable to break down these substances. These substances build up in the blood stream and can be deposited in various tissues and nerves causing damage.
Symptoms of this disease include hearing loss, retinitis pigmentosa, nystagmus, mental retardation, loss of reflexes, muscle weakness, poor balance and retarded growth. These symptoms vary from patient to patient. Some babies learn to walk, talk and read while others are severely cognitively delayed and confined to wheelchairs. Our Landen has shown signs of severe cognitive delay and muscle weakness but he is determined to move and learn
.
PBD is genetic and is inherit recessive meaning both Scott and I are carriers of a rare mutated gene. Landen has received one from each of us and is now is affected by PBD. Brayden or youngest shows no signs of PBD but still has a 50% chance of being a carrier a 25% chance of having two normal genes and a 25% chance of having PBD or both genes are mutated like Landen. Although Brayden's development and growth suggest that he is unaffected. Any future children we may or may not choose to have will also have a 25% chance of inheriting this disorder.

PBDs have no cure and is eventually fatal but we are doing our part to control it and treat the symptoms. First we try to control it through diet. One of the most dangerous and common substances that build up is phytanic acid. It is a by-product of photosynthesis and is only made in the green leafy part of plants. So Landen doesn't eat any animal product from animals that eat leafy greens AKA no beef, lamb, fish or dairy products. Symptoms are addressed and treated as they appear. He has a cochlear implant. His vision problems are uncorrectable with glasses but we are closely monitoring for change. Physical and Occupational therapies are key in helping him to grow and learn. Landen has shown great improvement since starting these services.

Although this disease will eventually take our son we will have some warning before it is time for him to go. His motor and cognitive functions will regress as more nerve damage occurs.
We love our baby boy and refuse to treat him like all is lost. We will teach him all that he wants to learn, give him all we can and love him forever! We appreciate the love and support of our family and friends as we start this journey together.