Landen's Update: Hearing and loving it!

Saturday, May 11, 2013

Hearing and loving it!

Landen has been hearing for a month now and its been great! We have been enjoying every minute of it. We also hear such positive responses from Landen's school. They have really noticed a change in him. He is much more energetic and attentive to activities. The changes are not extreme mostly subtle but very amazing non the less. I notice the most amazing little things. Feeding him is no longer a struggle he is more attentive and willing to let me help him. He lights up in the bath tub. We noticed that he has a fondness for soft music and wind chimes. Best of all he loves to hear mommies voice. There are so many little things that just make him light up. He loves the sound of his own laugh. Its the funniest thing to see him when he starts to giggle witch makes him laugh, which gets so out of control he gets the hiccups. Which of course makes him start to laugh even harder.

1 comment:

KimKerbyHildebrandtAugust 16, 2013 at 3:45 PM
My Dearest Smiley....YOU are such an amazing woman! I love you with all my heart and soul and I am so in awe of how you continually handle so many things, in stride and with the grace no one else could. You are an elect lady and I know that each trial, each experience that you endure, will net you great blessings in the eternities. Your sons will be you and Scott's for forever! I am so grateful that you have a Eternal Family and that you are "family" I look to you and gain strength from your indomitable spirit. YOU are SO SUPER AWESOME! I love you with all my heart and soul. Love, Sister H!
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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
.
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

Saturday, May 11, 2013

Hearing and loving it!

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