Landen's Update: Pound the pavement for PBDs

Thursday, May 24, 2012

Pound the pavement for PBDs

Ken and Tracy loving time with Landen

Can't believe its been more then two weeks since we went to California. Life just keeps us so busy sometimes but I wanted to blog about our experience. It was so great not just because we had so many people support us but because we got to spend the weekend with some amazing people. We left Saturday morning and headed for our friends the Whitney's who we would be staying overnight with in California. The Whitney's are an incredible family... they lost their Graham to PBD three years ago. They are an amazing family I love visiting their home because even though I never had the honor of meeting Graham you can tell just by walking into their home that he is still very much a part of their lives. Just because Graham is no longer on earth in no way means that he is no longer an important and wonderful part of his family. I also love visiting Ken and Tracy because they love my Landen almost as much as I do. I love seeing their smiles and hearing the memories that he brings of their beloved son. There is no denying that my Little Landen could be Angel Graham's little twin. They look so much alike as do many PBD children. But Graham and Landen have the big blue eyes, blond hair and long long limbs. I loved sharing my child... We had the honor of accompanying them to their church and being introduced to friends and family. Everyone we meet commented on how it was like seeing Graham again. We got to share in the love that Angel Graham had it was such an incredible experience and I want to thank the Whitney family for letting us in.

walking with Ezra's family

Our Family getting ready to walk

Sunday morning was the day of our event we were walking the 5k. Our friends from Flagstaff also brought Ezra down. Much of their family was there too and we got to meet more amazing people. It was a nice walk 5k for you "all Americans" is just over three miles. We started out somewhere in the middle but slowed our pace so that we could all end up together (some of our people started in the back). Brayden and Landen fell asleep somewhere between miles one and two so they got a nice walk. It was a great time to enjoy talking to everyone. We were all there to support each other... its not often that you get to be with so many people who have personally been touched by this disorder. There were friends, grandparents, siblings, parents, researchers ect. all there to Pound the Pavement for PBDs.

PBD MOMMIES

I thing for me personally the best part was being able to talk to Joleen and Tracy. We are all PBD moms. Being a PBD mom is something that only a PBD mom can understand. Its so hard to sometimes feel all alone like there is no one who understands what you are going trough. There are so many wonderful mother I know who have accomplished a lot despite difficulty, tragedy, affliction, pain and the many other things that come with this world. But none of them are going through the same thing as me. Few of them understand what its like to care for a sick child. To go to appointment after appointment. To struggle to learn about a disease that is so rare. To watch you child miss milestones. Or even the joys that come with seeing your child accomplish something so monumental that others don't understand how that can be so amazing. To know what pure love is. To hold a piece of heaven on earth for a short period of time. We are PBD moms we get strength each other, we help each other, we support each other and we learn from each other.

After the event we went to the beach. I love the ocean! Apparently Brayden does too he had so much fun letting the water come in and hit him. It wasn't the warmest day ever and the ocean was cold and there was Brayden shivering but not willing to leave the water. He didn't care even when a wave came in and knocked him right over into the water. He also loved the sand and so did Landen. Landen got to crawl in the sand and feel it on his hands. He loved it. We only got to stay for a short time because we needed to go home. I'm so glad we made the effort to come.

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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
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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.

Landen's Update

My Little Landen

Thursday, May 24, 2012

Pound the pavement for PBDs

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