Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our family's journey.
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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 …
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 gri…
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 avai…
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 histor…
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 l…
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!