August 20, 2016

Diagnosis Day --- Six Years Later

Six years ago today (August 20, 2010) our lives were forever changed. On that day that our beautiful precious 28 day old son was diagnosed with PBD-ZSD (Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder). It was the day that we learned of a disease that we wish to this day that we never had to find out about.

I know I'm not the person --- the individual, the wife, the mother, the daughter, or the friend that I would have been if Ethan had been healthy. Most days I'm pretty sure I'm not a better person but rather a more bitter person because of the pain and suffering that comes along with a diagnosis like PBD-ZSD.

I have read more about pain and suffering, the will of God, God's sovereignty, the brokenness of the world due to sin, and the trials of life than I think I ever would have otherwise. I do not doubt that God is ultimately in control, but I still hate the saying, "everything happens for a reason," and other cliches, many which are not Biblical at all, like "God won't give you more than you can handle." I fully believe there is a difference between being able to have joy and hope and being happy. I still struggle with discontentment and resentment every single day, because I'm a mom who deep in my heart still wants a miracle for my little boy to be "normal" and "healthy" and I know without a shadow of a doubt that the Lord has the power and ability to heal Ethan, however I have to be "okay" with the fact that Ethan's healing may not occur on Earth. Sometimes I still can't help but wonder and question not only "why Ethan," but "why any child or any family" has to endure so much.

Yet, through it all, there are things I'm thankful for --- I have a husband who has stood by us when so many others don't. I know that we are blessed to have him in our lives. I know that Ethan is loved by his family and many others. There are people who have chosen to love our family and "do live with us" and actively try to "understand" the messiness and hardships that come with this life changing diagnosis. I have met some of the most amazing, bravest, strongest people in this world, although honestly I wish we had never had a reason to meet. I have the honor of serving other families like ours through the Global Foundation for Peroxisomal Disorders and because of the GFPD we have met many of the world's top PBD-ZSD specialists, who know Ethan by name! Over the last six years we have been very fortunate to have amazing doctors, therapists, nurses, teachers, and others who have helped us help Ethan. I have not let PBD-ZSD rob me of my faith, although there are times even now of great struggle and when God feels so far away. I believe in all my heart that God has not abandoned us and that He loves Ethan even more than I can imagine. While I may always have questions about "why" this side of Heaven, I have faith that someday my son will be healed forever and that because of what Jesus did on the cross that I can find peace, rest, and assurance in His promises.

Today, six years after receiving the most devastating news in my life and what I'm pretty sure will be the worst day of my life except once that has yet to occur I pray:

  • I pray for the day in which a family who receives a PBD-ZSD diagnosis is told that there are effective treatment options and/or a cure.
  • I pray that life changing treatment options will be discovered in time to help Ethan.
  • I pray for the doctors and scientists who have dedicated themselves to understanding this disease and are searching for ways to improve the quality of life for individuals with PBD-ZSD.
  • I pray that families impacted by PBD-ZSD who have yet to connect with other parents who "get it" will find the GFPD.
  • I pray for the leadership of the GFPD and every family that is part of the GFPD.
  • I pray for the amazing therapists and teachers who dedicated themselves to working with and helping kids like Ethan.
  • I pray for Jeff and I to have the strength/energy, wisdom, and peace needed to continue being the parents we need to be for Ethan.
  • I pray for Ethan, his health and his development. I pray that he would be happy and most of all know that he is loved.
  • I pray for the two little girls who currently share our home and have already stolen a piece of our hearts, whose stories are yet to unfold. Their presence in our family is obviously bittersweet in so many ways as it is undeniably intertwined with grief (both theirs and ours) but we are so happy that they are here.
  • I pray for the church as a whole to do a better job at recognizing the needs of families who foster and/or adopt and those who are impacted by disability and be the hands and feet of Jesus to these families. 
  • I pray that if there is anyone who reads this that does not yet have a personal relationship with Jesus, that they would come to know Him and the type of peace and hope that only He can provide. 

August 2, 2016

Summer Update

June and July have been very busy for us and full of changes for our family.

The first weekend of June I flew to Baltimore, MD for a GFPD Board of Directors meeting. While there I was also able to attend the meeting of the GFPD Scientific Advisory Board and the Ilan-a-thon. I left that weekend very proud of how much the GFPD has accomplished in less than six years and excited to see what will happen next. Please read "Update from the Annual GFPD Scientific Advisory Meeting" and "More than a Race, Ilan-a-thon is a Celebration," for more details.

During my trip to Baltimore , which came less than 2 weeks after Ethan had his tonsils and adenoids removed, we began to make a number of changes to Ethan's anti-seizure medications. Under the supervision of Ethan's epileptologist we began to wean him off of Banzel and made plans to try Charlotte's Web hemp oil. Ethan's epileptologist runs a clinical trial for Epidiolex, which is a pharmaceutical cannabinoid, but his trial site, like most around the country are full and not accepting new patients at this time. Thankfully, he was on board with us giving Charlotte's Web (CW) a try and provided us with dosing suggestions.

I am happy to report that Ethan's last seizure, that we are aware of, was on June 6th. The combination of addressing his sleep apnea by removing his tonsils and adenoids and the medication changes seem to be working. Plus, after we got Ethan off of Banzel his smile and personality began to return, as did some of his balance. Ethan has been doing so well that his epileptologist has allowed us to begin weaning him off of another one of the anti-seizure medications, Phenobarbital, and we are about half way into the 7 to 8 week process. Reducing the amount of Phenobarbital has made a world of difference in Ethan's quality of live, in my opinion. He is so much happier and his mobility has greatly increased -- he's walking more everyday it seems. Yes, it is just short distances, but we are so thankful that the "fog" has seemed to be lifted and that as of today we have not seen any seizure activity. Ethan's epileptologist is wonderful and if the seizures return then we are to call and he is going to suggest increasing the Charlotte's Web and seeing if that will do the trick without having to go back up on Phenobarbital.

Since Ethan had speech therapy, physical therapy, and occupational therapy services through the school district during June and early July in addition to his regular outpatient therapies at Easter Seals, many of the therapists that he works with have seen the improvement in Ethan's alertness, willingness to participate in therapy, his mobility, and his mood. The effects of PBD-ZSD on our little boy are still very clear, and he still tires easily and therefore typically takes a good nap everyday, but overall we are just so happy to have Ethan "back" to about where he was at last Fall.

In addition to getting seizures under control, we celebrated Ethan's 6th birthday last month. We actually celebrated it three times: once with my extended family in Southern Illinois the weekend before his birthday; we had our parents, 3 great grandparents, an aunt, and 2 cousins all over at our house on Ethan's actual birthday; and the next day we had an open house style party at our church for our friends here in the area. Ethan turning 6 was both wonderful and heartbreaking for me, but nevertheless we tried to look on the bright side of things and use it as an opportunity to not only celebrate our son but to give back to the GFPD, who has given us so much.

Here is my Facebook post on the day of Ethan's birthday:

Today is Ethan's 6th birthday!
Last night I went to the store to get things for our parties/celebrations this weekend. I was doing "okay" until I started looking for a card, picking out "birthday plates"and looking for a gift.

Ethan doesn't understand It's his birthday, doesn't know what a card is and/or have a favorite color/theme that he has begged us to incorporate into his party. He doesn't know what cake is and probably won't even taste a bite of ice cream, when we offer it to him. I have to go to the "baby toy" aisle for a gift for my 6 year old.

When I got home last night I just lost it, I mean ugly uncontrollable cry lost it. I was thankful that a dear friend was here, she had dropped something off, and she let me fall apart.

I hate this disease so much. I know in that I'm fortunate that I can still hold my boy and that at moment his health is "stable," considering his diagnosis. Yet, the desire to have my little boy be "healed" and "normal" doesn't ever go away. It still hurts and sometimes the feelings are so raw, even after almost 6 years. I want effective, life-changing treatment options to be discovered and made available, yet the reality is that it may not happen in time to make a difference for Ethan and it won't bring back all the children who have already passed.

If gene therapy can help Hannah and others, them maybe, someday it could make a difference for children with PBD-ZSD. Maybe a more "traditional" treatment like a bone marrow transplant or even a medication/pharmaceutical drug will make a difference in the quality of lives of those with PBD-ZSD, but there is still so much to be done to find out. The GFPD is determined to help support the researchers who are dedicated to finding ways to improve the lives of individuals with PBD-ZSD. This is one of the reasons why we are so passionate about raising awareness and funds for research. You can learn more at find ways to get involved in helping children and families impacted by PBD-ZSD at

P.S. We feel very blessed that we have surpassed our original $600 goal for the GFPD in honor of Ethan's birthday. If you haven't yet, there is still time to donate. Thank you!

I am thrilled to report that due to the generosity of family, friends, and acquaintances we know that almost $1,500 was donated to the GFPD in honor of Ethan's birthday! We are so thankful for all who gave and for the continued support and prayers. The GFPD is so important to our family and families around the world who are impacted by a PBD-ZSD diagnosis.

Perhaps the biggest change for us is that this summer we have become a family of five! We have been licensed foster parents for more than a year, and in May we agreed to meet two little girls to see if we might want to become their foster parents and their adoptive parents if that becomes a possibility someday. So, if you happen to see us out and about or hear me refer to our "children," or see me ask for parenting advice on Facebook, please know that we are still figuring things out and adapting to becoming a family of five. We have fallen hard for the two precious little girls who are in our home. There are so many blessings, challenges and it can be so bittersweet for so many reasons to have them as a part of our family, but we are so glad that they are here and that we have opened our heart and home to these little ones. We have no way of knowing how long the girls will be with us and what ultimately will happen, but as Jeff likes to say, "They will be with us until they aren't."

For obvious reasons we are not at liberty to share much at all, but we do ask for your prayers for us and for all the children, biological families, foster families, and professionals who are in the trenches of foster care. Specifically pray for the healing of bodies, hearts, and minds and for wisdom for all involved. Please pray for our family specifically as we travel another challenging "parenting" road and learn to navigate in an entirely different "world" than we have been in with Ethan for the last six years. Please pray that we will be able to be the parents that all three of our children need us to be. For more practical ideas about how you can pray and support those involved in foster care ministries check out The Forgotten Initiative and All In Family Ministries. We are very thankful that our church has an active Foster/Adoption ministry and that we are able to connect with other families who have been and/or are going through some of the same things.

So many of our pictures from the summer include the girls, which sadly I can not share, but Ethan has also been a bit more photogenic lately. Here's a few to leave you with:

Ethan actually "noticed" the fireworks this year!

We are so happy that this guy's personality is coming back to us!

Ethan's new favorite game -- ON/OFF!

"It's my birthday and I'll sleep if I want too!"

Love this smile!