April 29, 2012

Six months on Cystadane

Asking for prayer. Ethan has been on Cystadane (betaine) for the last six months. This is the medicine that Dr. Braverman (PBD specialist from McGill University in Canada) is working on getting a clinical trial started with soon. Ethan has been on the medicine for six months and tomorrow Ethan has the blood draw that will "determine" if it is "working." It will take a few weeks to get the test results back but the hope of course is that when they come back that there will be an improvement in his VLCFA and plasmagen levels. We pray that the Cystadane is not just working for Ethan but also for the future possiblilities for all children with PBD. This has been a huge leap of faith for us as Ethan is the only child in the country with PBD taking Cystadane at this time. The medicine is an FDA approved medicine for a different unrelated metabolic disorder, but still, it is a little scary having Ethan be the first.

We'll keep everyone posted! Thank you for your your thoughts and prayers.

April 28, 2012

People can be so hurtful!

I'd like to ask you to read a post from my dear friend Ramee. Ramee is the wonderful mom of three beautiful children. Her youngest, Mabel, is a week older than Ethan. Mabel has LOTS of health issues, many similar to Ethan, some different. The family does not have a diagnosis or name to the underlying reason why Mabel has the challenges that she does. They are still looking for answers. Mabel and Ethan are pals and have gotten to play together a couple of times because our families live less than a half hour away from each other.

My heart hurts today for my friend because as I read her post about their recent trip to the zoo, I could relate. Mabel and Ethan are different and this world does not understand them or kids like them. And, unfortunately, this world and the people in it can sometimes be very cruel. As a  parent of a child with special needs I have not only all the worries and challenges that come with providing the care, love and attention that Ethan requires but also grief daily for what PBD steals from him and us as a family.

While I don't think any parent of a child with special needs wishes that others would have children with similar issues, I do pray that people would be more sensitive and understanding. I get that people have questions. That is okay! Depending on the day and the situation I am more than willing to educate most people on why Ethan is Ethan, and sometimes I might simply state that he has many health issues and special needs - I consider spreading awareness about PBDs part of my mission as Ethan's mom, but when people are cruel and hateful (like what my dear friend experienced yesterday at the zoo) it makes me just want to scream!

To all my dear friends who have extra special little ones -- lots of hugs and love! This is a tough journey we are on and I am so thankful that the Lord has brought you into my life.

To all my friends who have healthy, typically developing children -- I pray you will do your best to raise your children to become respectful and caring adults, and not the rude and hateful kind that my friend experienced yesterday when they encounter a child or adult with disabilities.

Raising Redheads by Ramee Larson

Mabel and Ethan

April 20, 2012

"To You, My Sisters" by Maureen K. Higgins

A friend I've made recently, her little boy was born with Down Syndrome, because of our special little ones shared this with with me recently. The poem spoke to my heart, because it is so true.

To You, My Sisters

by Maureen K. Higgins -

Many of you I have never even met face to face, but
I've searched you out every day. I've looked for you
on the Internet, on playgrounds and in grocery stores.

I've become an expert at identifying you. You are well
worn. You are stronger than you ever wanted to be.
Your words ring experience, experience you culled with
your very heart and soul. You are compassionate beyond
the expectations of this world. You are my "sisters."

Yes, you and I, my friend, are sisters in a sorority.
A very elite sorority. We are special. Just like any
other sorority, we were chosen to be members. Some of
us were invited to join immediately, some not for
months or even years. Some of us even tried to refuse
membership, but to no avail.

We were initiated in neurologist's offices and NICUs, in
obstetrician's offices, in emergency rooms,
and during ultrasounds. We were initiated with somber
telephone calls, consultations, evaluations, blood
tests, x-rays, MRI films, and heart surgeries.

All of us have one thing in common. One day things
were fine. We were pregnant, or we had just given
birth, or we were nursing our newborn, or we were
playing with our toddler. Yes, one minute everything
was fine. Then, whether it happened in an instant, as
it often does, or over the course of a few weeks or
months, our entire lives changed. Something wasn't
quite right. Then we found ourselves mothers of
children with special needs.

We are united, we sisters, regardless of the diversity
of our children's special needs. Some of our children
undergo chemotherapy. Some need respirators and
ventilators. Some are unable to talk, some are unable
to walk. Some eat through feeding tubes. Some live in
a different world. We do not discriminate against
those mothers whose children's needs are not as
"special" as our child's. We have mutual respect and
empathy for all the women who walk in our shoes.

We are knowledgeable. We have educated ourselves with
whatever materials we could find. We know "the"
specialists in the field. We know "the" neurologists,
"the" hospitals, "the" wonder drugs, "the" treatments.
We know "the" tests that need to be done, we know
"the" degenerative and progressive diseases and we
hold our breath while our children are tested for
them. Without formal education, we could become board
certified in neurology, endocrinology, and psychology.

We have taken on our insurance companies and school
boards to get what our children need to survive, and
to flourish. We have prevailed upon the State to
include augmentative communication devices in special
education classes and mainstream schools for our
children with cerebral palsy. We have labored to prove
to insurance companies the medical necessity of gait
trainers and other adaptive equipment for our children
with spinal cord defects. We have sued municipalities
to have our children properly classified so they could
receive education and evaluation commensurate with
their diagnosis. We have learned to deal with the rest
of the world, even if that means walking away from it.

We have tolerated scorn in supermarkets during
"tantrums" and gritted our teeth while discipline was
advocated by the person behind us on line. We have
tolerated inane suggestions and home remedies from
well-meaning strangers. We have tolerated mothers of
children without special needs complaining about
chicken pox and ear infections. We have learned that
many of our closest friends can't understand what it's
like to be in our sorority, and don't even want to
try.

We have our own personal copies of Emily Perl
Kingsley's "A Trip To Holland " and Erma Bombeck's "The
Special Mother". We keep them by our bedside and read
and reread them during our toughest hours. We have
coped with holidays. We have found ways to get our
physically handicapped children to the neighbors'
front doors on Halloween, and we have found ways to
help our deaf children form the words, "trick or
treat." We have accepted that our children with
sensory dysfunction will never wear velvet or lace on
Christmas. We have painted a canvas of lights and a
blazing Yule log with our words for our blind
children. We have pureed turkey on Thanksgiving. We
have bought white chocolate bunnies for Easter. And
all the while, we have tried to create a festive
atmosphere for the rest of our family. We've gotten up
every morning since our journey began wondering how
we'd make it through another day, and gone to bed
every evening not sure how we did it.

We've mourned the fact that we never got to relax and
sip red wine in Italy . We've mourned the fact that our
trip to Holland has required much more baggage than we
ever imagined when we first visited the travel agent.
And we've mourned because we left for the airport
without most of the things we needed for the trip.

But we, sisters, we keep the faith always. We never
stop believing. Our love for our special children and
our belief in all that they will achieve in life knows
no bounds. We dream of them scoring touchdowns and
extra points and home runs.

We visualize them running sprints and marathons. We
dream of them planting vegetable seeds, riding horses
and chopping down trees. We hear their angelic voices
singing Christmas carols. We see their palettes
smeared with watercolors, and their fingers flying
over ivory keys in a concert hall. We are amazed at
the grace of their pirouettes. We never, never stop
believing in all they will accomplish as they pass
through this world.

But in the meantime, my sisters, the most important
thing we do, is hold tight to their little hands as
together, we special mothers and our special children,
reach for the stars.        

April 19, 2012

Transitions - Part 2

Tonight, Jeff's parents and I got to see Ethan transition from the floor to sitting. He still didn't get to sitting straight up but he was on his butt, so we are counting it!!

April 18, 2012

Dinner time fun!

Dinner time fun!

It could happen to you.....

I've written about carrier testing before, but some recent conversations I've been part of have caused me to want to write about it again. I also want to talk more about the need for additional newborn screenings, but that will wait for now.

As you know, for Ethan to have PBD, Jeff and I had to both be carriers. We'd never heard of PBD before and as healthy carriers with no family history of anything nasty like this -  we thought (like most people) that we'd have healthy, typically developing kiddos (just like everyone else). I mean we are healthy, don't drink, smoke, do drugs and I began taking prenatal vitamins once we decided we'd start "trying" for a family, etc. But, we were like millions of other healthy parents who were taken by surprise when our child was born with a life-threatening (terminal) genetic disorder. Did you know that more than 80% of children born with genetic illness that are passed down from carrier parents, lack a family history of that disease? (www.counsyl.com).

Carrier testing can't test everything, and some genetic disorders "just happen" and there is no way to have a 100% guarantee of a healthy, "normal," child, but carrier testing can reduce the risk by letting you know prior to pregnancy if you and your spouse are carriers of some nasty genetic disorders.

So, what are the carrier rates for some of the "common" genetic disorders? Here they are by ethnicity according to www.counsyl.com:

African Americans
Carrier Rates for Common Diseases
1 in 12
1 in 60
1 in 66
1 in 66
1 in 87
1 in 260



East Asians
Carrier Rates for Common Diseases
1 in 44
1 in 51
1 in 51
1 in 53
1 in 87
1 in 260

Hispanics
Carrier Rates for Common Diseases
1 in 23
1 in 46
1 in 51
1 in 260

Middle Eastern
Carrier Rates for Common Diseases
1 in 16
1 in 24
1 in 26
1 in 87
1 in 260

Southeast Asians
Carrier Rates for Common Diseases
1 in 25
1 in 51
1 in 51
1 in 53
1 in 87
1 in 260

Pretty scary stuff, huh? So, if you are considering having a child, even if you have already had a healthy child before, you may want to consider talking to your doctor about carrier testing prior to pregnancy. There are different tests available, and you should do your research as well as talk to your doctor, but I'd recommend looking into the Counsyl test which screens for targeted mutations in more than 100 serious genetic diseases.

I know that not everyone will agree with me about carrier testing, and please don't take this post to mean that I regret having Ethan or that I have more faith in science than I do God, because that isn't the case. However, looking back - if we had known about carrier testing and had had it done, it would have told us that Jeff was a carrier for a PEX 1 mutation. Since the test doesn't screen for my particular mutation which is not a common mutation, our risk would have still be considered pretty low but we would have known there was a possibility. We would have been able to discuss and investigate possible further carrier testing, or even other options for planning a family. 

We love Ethan with all our hearts, and believe that God has a purpose for our son and for us. However, this journey is not one that anyone should have to be on. No one wants to hear that your child (or anyone you love for that matter) has a disease that there is no cure for or that there is no more treatment options for, etc.

Prayer requests
  •  Pray for comfort and peace for families who have loved ones who are facing life-threatening medical issues. Pray that they will feel God's presence and that they will hold on to the hope that only He can give.
  • Pray for those whose arms and hearts ache for loved ones who have died. Pray that the Lord would give them the strength, comfort and peace.
  • Pray for miracles! Pray for healing! Pray for medical breakthroughs! I am a firm believer that the Lord  often uses medicine and doctors to heal and bring Him glory.
  • Pray for Ethan to continue to grow and develop. Pray that he will remain healthy and happy. Pray that he will continue to learn about the world around him and always know that he is loved very much. 
  • Pray that the Cystadane is working. Ethan will have blood work at the end of April that should let us know if it is having any impact -- hard to believe he's been on the medicine for almost six months.
  • Pray for the future of a larger official Cystadane trial as well as any other future clinical trials that could lead to treatments or even a cure to PBD.
  • Pray for us to have the wisdom, strength, and patience needed to be the parents that Ethan needs.
  • Pray for us and all families facing tough decisions about how to someday build their family in the aftermath of a genetic diagnosis like PBD or if they learn that they are both carriers of some other nasty genetic disorder. 
  • Pray for the many upcoming fundraising events around the country being held for the Global Foundation for Peroxisomal Disorders. Pray for our Pancakes for PBD event on May 5th - our goal between the breakfast and our letter campaign is to raise $1,000.

April 9, 2012

Transitions....

Tonight, Ethan transitioned from his belly to sitting for the first time!!! Jeff saw it, but I missed it. Boo! Hoping we won't have to wait too long until Ethan shows off again.

April 8, 2012

Easter 2012

After church we went to Jeff's parents for a lovely Easter lunch.



Ethan with Great Grandpa and Great Grandmother Marshall

Ethan with Grandpa and Grandma Marshall

April 7, 2012

Fun at the park!

Today, was Ethan's cousin Cora's birthday party. Before the party we headed to the park just down the street from their house to play.







April 3, 2012

Please support children with PBD and their families!

April 3, 2012

Dear Friends and Family,

As you know, our family has dealt with the heartbreak of our son’s diagnosis with a genetic disease, since Ethan was just 28 days old. His condition is called a Peroxisomal Biogenesis Disorder (PBD) in the Zellweger Spectrum of Disorders. As we learned about the disease that we were told our little boy had, we knew that this was going to be a journey that no parents want to be on. PBDs are rare, genetic, metabolic, terminal conditions affecting all major systems of the body. Children with PBDs commonly experience sensorineural hearing loss, vision loss, hypotonia (low muscle tone), seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency. Approximately half of all children born with PBDs die before their first birthday and very few children live past the age of 10. Right now, the Global Foundation for Peroxisomal Disorders knows of only about 90 children in the world that are living with this devastating disorder.

Last July we were thrilled to celebrate Ethan’s first birthday with family and friends. Despite the many challenges that Ethan faces he continues to be a happy little boy. Over the last year Ethan has made progress – he has recently learned to combat crawl, sign “eat” and “more,” is becoming more tolerant of his hearing aids, and seems to be more aware of the world around him.  Ethan has weekly physical therapy, occupational therapy, speech, and hearing services; bi-weekly vision services and monthly dietitian visits from his dedicated therapists. He also began an experimental trial of a medicine called Cystadane in October 2011, with the hope that the medicine will increase the function of his peroxisomes. Ethan will have blood work done in late April to determine if the Cystadane is working. While this would not be a cure to PBD, any new treatments that could improve the quality of life for children with PBD would be a huge breakthrough and blessing. Ethan is currently the only child with PBD who is taking Cystadane, but there is hope for a formal clinical trial to begin by this summer.

Ethan’s disorder has changed our lives in so many ways. It has caused us to really treasure the blessing of each day we have with our little boy. We have also become actively involved in the Global Foundation for Peroxisomal Disorders (GFPD), the non-profit organization dedicated to helping families impacted by PBD. Pamela has even taken on a leadership role in the GFPD as their Family Registry and Support Group Coordinator, and last summer we were able to attend the first annual GFPD Conference in Omaha, Nebraska.

The GFPD has united and empowered families across the world affected by PBDs with a stronger voice in the medical and scientific community to help drive research, treatment, and (we hope) ultimately better outcomes for children affected by this devastating spectrum of disorders. This summer we are once again planning on attending the GFPD Conference, which this year is being held in Orlando, Florida from July 30th to August 2nd.  We would not be taking a “vacation” to Florida if it wasn’t for the opportunity to gather with others who understand this disorder, learn about the latest PBD research and have Ethan seen by the top PBD specialists in North America.

We would like you to consider partnering with us by making a contribution to the GFPD that will help our family and other families like us attend this year’s conference. Our estimated cost to attend the conference this summer is $2,500 (which includes conference fees, travel expenses, lodging, and meals). These costs could be even greater for families who have farther to travel. Therefore, we are going to be splitting the funds that we raise -- with half going to help with our expenses and half going to help other families through the GFPD Family Conference Scholarship Fund.

We are hosting “Pancakes for PBD” on Saturday, May 5th from 7am to 11am at our church (First Baptist Church located at 720 W. Main Street in Mt. Zion, IL) to help raise awareness for PBDs and funds for the conference. The cost will be $5 a person. Children under the age of five are free. We hope that you will join us!

If you aren’t able to attend the “Pancakes for PBD” event but would still like to contribute, donations can be made online or by mail. Online donations can be made through the Global Foundation for Peroxisomal Disorders website, www.thegfpd.org, by designating the “Marshall Family Conference Fund” or by mail to:

The Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue, Suite 181
Tulsa, OK 74135



Thank you for your continued thoughts, prayers and support. We are so very blessed to have so many people who love our family.

Jeff, Pamela & Ethan Marshall

Ethan swinging at the park - April 1, 2012


April 1, 2012

We love PJs!

Ethan and I don't get out a lot. Even with the weather getting better we stick pretty close to home. There are a number of reasons for that: Ethan's therapy schedule, Ethan's routine and his toys are at home, germs are NOT our friend, and that when we are home Ethan is just Ethan and I'm not thinking all of the time about what he SHOULD be doing if he was healthy and what all the other kids his age ARE doing.

So, we tend to be homebodies and Ethan is often in his pajamas for a good part of the morning. So, what have we been up to the last couple of weeks? Check it out for yourself!