Landen's Update: 2013 GFPD Conference

Friday, August 16, 2013

2013 GFPD Conference

We look forward to the GFPD conference all year long. This year was a little difficult with my dad in the hospital and our family needing us but we also know what going to this conference means for Landen. It worked out that we went right as dad was getting transferred to Denver. My mom was going to come with us so we had already paid for her registration but for obvious reasons she couldn't go.. So we brought along my niece Tori. What a blessing she was she was able to help with the kids both on the two day car ride up and at the conference. As always we learned a lot from the medical/scientific speakers, and even more from the other families. We also received help and support from the medical staff who took the time to sit down with me and Landen.

The best part of these conferences are the family connections we make. Getting to know parents who are in all stages of this disease. We have parents whos children have just been diagnosed, parents like me with young children still trying to find a balance, parents who are experienced in the dad to day medical and emotional ins and outs of this disease and parents of angels. Everyone of them brings so much to our table. I love every part of it.

We had lots of fun time too. We spent an afternoon at the zoo, lots of swimming, we had a parents night out, we had dinner and swimming at the Lincoln Country Club, had dinner and fun at the Lincoln Children's Museum (braydens favorite). But I have to say my favorite was just spending time with the other moms. The support and advice and fun we have their are a unique thing.

The 2013 GFPD Video

Many of our wonderful families and our sweet children.

Pictures

GFPD family tree

Tori and Brayden climbing trees at the rest stop

♥ My boys ♥

Landen rode a horse at the zoo

Tori showing Brayden all about the bugs

Landen ♥ Daddy

As always amazing volunteers in the children s room

I can't tell you how special these children are!

♥ Tracy getting her Landen time ♥

Landen

Balloon release

Everyone loves a ball pit

Always miss our Ezra friend...

Her family is the first we ever met with this disease

they live in Arizona miss them so much!

The Children's Museum was so much fun!

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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

Friday, August 16, 2013

2013 GFPD Conference

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