September 28, 2011

PBD Research

When we learned about Ethan's diagnosis and that there were no real treatments or cures there aren't really words to describe how we felt.... Now that we are over a year into the PBD world we know that there still isn't any magic treatment, pill or transplant that can save our son and give him a "normal" life... but I have learned that in some ways the experts know a lot more today than they knew about PBD thirty, twenty, even ten years ago.

For example:
  • The old terminology, although it is still widely used, has changed. Ethan's disorder is a spectrum, some kids are affected so severely that there little bodies wear out and are with Jesus by a year old. Some are less severely impacted and live through the toddler years, and those that are the most mildly affected can live into their twenties or even thirties! The disorder was once thought of as three separate diseases - Zellweger Syndrome, NALD, and IRD. Now the researchers know that it is one disorder and it is nearly impossible to say where on the spectrum a child will be, even if you know the mutations that they have. There are two great examples of this in our family support group: one family has a little boy in heaven who passed away when he was just four months old and his little sister who has the same mutations is still alive at 29! The other family has three children with PBD and each of them has been impacted differently.
  • Doctors today have learned from the older children who are still living and those who have already gone to be with the Lord. Because of them most kids today are on Vitamin K supplement, to help with bleeding issues.
  • Today because of newborn hearing screenings in most states, our kids can get fitted for hearing aids when they are just a few months old! There are cochlear implants that can give back the gift of hearing when hearing aids no longer help.
  • Through Early Intervention programs our children have access to the therapies they need to help them reach their fullest potential. Ethan recieves the following therapies: PT, OT, Speech, Hearing, Vision and Dietitian support.
  • There are eye surgeries and eye glasses that can help some kids better utilize what functional vision they have. Oh, I hope that one day Ethan won't hate his glasses!
  • There are medicines to help with seizures and to increase bone density.
  • Wheelchairs, walkers, braces, and canes help our children be as mobile as possible.
  • And due to the dedication of parents, especially my friend Shannon, we have the Global Foundation for Peroxisomal Disorders (GFPD) and other organizations such as ZBSN which are dedicated to our families. THANK YOU!!!
With all that being said, this week we have learned about some new research being done at the University of Alberta. The video below explains the importance of the creation of fruit flies with PBD and how they will be able to use these fly models to test possible medicines that will hopefully someday be used to treat humans. Please keep these researchers and researchers around the world in your thoughts and prayers. I am a firm believer that God often uses modern medicine to work His miracles! (Just think how far cancer treatments have come in the last 30 years!!!!) Please pray that they will use the wisdom and understanding that the Lord has blessed them with to find new treatments and eventually a cure for this horrid disorder.

September 21, 2011

"What I Would Tell You" by Julie Keon

Please check out the following link. It is to a "poem" written by Julie Keon, a mom of a child with special needs. While I might not agree with every single thing she says in the "poem," I do pray that one day I will have her strength and be an encouragment to moms new to this unique journey....

"What I Would Tell You" by Julie Keon

The things we take for granted...

As you might imagine, my life is turning out much different than I had expected. I hope that I was never a person that took too much for granted, but I do believe that I am more thankful now than I was before Ethan came into our lives. I am also more aware of how much is taken for granted....

We are in the process of selling our house. Why move? We want a house that is more Ethan friendly. We want a house without stairs so that when he is able to walk with a walker or if he needs a wheelchair that our home will not be a hinderance to him. So as we began this process of looking for a different house we started with a long list of it can't have this....

NO Bi-levels
NO Two story homes
NO one story homes with large steps up to the house
NO one story homes with step ups or downs from one room to another
NO narrow hallways

All of these things seem like they shouldn't matter, but to a family who is uncertain about the future health and mobility of their child they are....

Sometimes I wish that I could take more things for granted, but that is no longer my life.... I notice things all the time that aren't accessible to people of any age with a disability or trouble with mobility.

After a lot of searching we have found a house. We've made an offer, continguent on the sell of our home, and it has been accepted. It is ranch home that is already ramped for a wheelchair! It needs some work, but I love it. Please pray that our home will sell so that we can be in the new one before winter!

An Answer to Prayer

We had a huge answer to one of our many prayer requests this morning. We have qualified for help with the experimental medicine for Ethan though the National Organization for Rare Disorders assistance program. We have to do some baseline blood tests before he starts the medicine but then he should be starting the medicine within the next couple of weeks! Since our insurance doesn't cover the medicine it would have been over $700 a bottle without this assistance.

We know that the medicine is not a cure for PBD. We aren't even sure if it will really help, but we are going to try. The hope and prayer is that it will help restore some of the peroxisomal function.

We are praising the Lord for this answered prayer! Now, to sell our house. :)

September 10, 2011

Ethan's IFSP Meeting

We had Ethan's one year review of services or his IFSP (Individualized Family Service Plan) back on August 31st. This meeting was to review the progress Ethan had made over the last six months and to set goals for the next six months to a year. It also is the time were we review all of the current services he receives through Early Intervention and if necessary make changes. I was very glad that Ethan's Physical Therapist (PT) and Developmental Therapist - Hearing (DTH) were able to attend the meeting along with our service coordinator. The PT and DTH have been with Ethan since the very beginning!

I thought the meeting was helpful. There are a few changes that were made but several of the services remained the same.
  • Occupational Therapy (OT) is increasing services from twice a month to weekly.
  • Speech is increasing services from once a month to weekly and will be working on feeding in addition to language development.
  • Developmental Therapist -Hearing (DTH) will continue weekly.
  • Physical Therapy (PT) will continue weekly.
  • Developmental Therapist-Vision (DTV) will continue twice a month.
  • Dietitian will continue once a month.
  • I spoke with the Mobility and Orientation gal on the phone prior to the meeting and she sent me some information. She won't be added to the team officially until Ethan is up and walking, but she said we could call if we had any questions.
I feel very blessed that we have a team who seems to truly care about our little man. They understand that he is unique and that he is writing his own book when it comes to how and when he will do things. The list of services might seem a little overwhelming, and I'll admit at times it is, but I am so glad that we have all of these services available and that I am fortunate enough to be home with Ethan, which makes all of the home visits by therapists much easier than if he was in daycare or at a sitter's house.

While there were many goals discussed at the meeting, I'll just share a few of my favorite. In the next six months we hope that Ethan will be able to:
  • Move forward on the floor (crawl or scoot).
  • Hold his own bottle (or sippy cup! if we can make that transition).
  • Pick up and self feed finger foods such as puffs, Cheerios, etc.
  • Increase use of sign language - signing "more," "food," "milk," regularly to communicate his needs/desires.
We've set some pretty high goals for Ethan, and I know that we will help him do his best to obtain them. He'll get there in his own timing and own way, and while I'd love to be able to, there isn't much I or any of the therapists can do to speed up "Ethan time." And it is our belief that "Ethan time" is perfect! The Lord created Ethan knowing exactly who he would be and when and what he would accomplish. We continue to seek his guidance and direction as we try to be the parents that Ethan needs and deserves. Please continue to pray for us as we do this on a daily basis.