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Showing posts from 2015

An earlier than expected start to Christmas break for Ethan

Thursday morning Ethan had a previously scheduled EEG, that had been ordered a couple of months back when all the crazy seizure breakthrough stuff begun. Obviously, the hope was that enough time would pass and that the medications would be working well and that the EEG would show that Ethan's seizure activity would be "under control." Since the last five to six weeks have been a real rollercoaster in terms of Ethan's seizures and so we weren't really sure what the EEG would show us.

EEG's are stressful for Ethan. He is sleep deprived, to start with, and then he is held down so that more than 20 electrodes are attached to his head. Then we have to try to make him sleep and not allow him to pull the electrodes off of his head. Ethan gets extremely agitated because he is being held down and people are touching him. After that, he is pretty exhausted from fighting and typically is able to eventually rest for the test. It is preferable for an individual to be aslee…

Big Day - Field Trip to Bass Pro & Easter Seals Family Night at the Playhouse Children's Museum!

Ethan was so tired tonight. He had a busy day at school, which also included a field trip to Bass Pro to meet Santa and to go bowling, and then this evening we had our first visit to the Playhouse Children's Museum.

More importantly though, here's a quick medical update:
We are thankful to report that for the last two days no one has seen any seizures, so we are hoping and praying that this most recent increase in his medications might be making a difference.Our current neurologist (the one who is 2 hours away) called in a stronger dose for the diazepam. Ethan had been prescribed a 2.5 mg dose by the neurologist who saw him when he was hospitalized last month, but since it has not stopped the seizures the last 2 times it was administered, our neurologist calculated that a 7.5 mg dose is more appropriate for his weight.  So our hope is that the new dose will stop the cluster seizures, if they occur again. Obviously, the goal is to not have a need to use the rescue medication an…

Here we go again!

Yesterday, our family got to take another trip to the ER.

Just a little after 7am, after I had fed Ethan breakfast and gave him his morning medications, he and I came into the living room to play before we had to get ready to leave for school. Ethan had 5 seizures, each lasting 10 to 15 seconds, back to back. Jeff had not yet left for work so I had him get the Diazepam, Ethan's rescue medication, and we gave it to him. The Diazepam is supposed to stop the cluster seizures, but it didn't. The seizures continued and didn't show any signs of stopping so the three of us packed up and headed off to the ER.

By the time we arrived at the ER the drowsiness that is a side effect of the Diazepam was very evident, and although Ethan wasn't sleeping, he was definitely out of it. He had another small seizure shortly after we got to the hospital while we were being checked in. Once again his vitals were monitored and blood taken. The doctor spoke on the phone with our neurologist (w…

Racking up the frequent flyer miles at our local ER

On Wednesday, I got a call from Ethan's school that he was had a cluster of uncontrollable seizures, that lasted about 4 minutes, so I went and got him from school and brought him home. He was exhausted and rested a majority of the day, but we didn't see another seizure all night.

Yesterday, I decided to keep Ethan home from school and let him continue to rest, because he slept in and seemed extremely tired. We had a nice pajama day here at home, he was extra affectionate and took a really good afternoon nap. We didn't see any seizures all day.

This morning Ethan woke up and seemed well rested and was acting like his usual self, so I took him to school. School begins at 8:30am and just about an hour later I got a call from his teacher letting me know that Ethan had had another seizure episode and that it lasted over 5 minutes so the nurse had given him the rectal Diazepam. Of course, I was freaked out and I let them know that I would be there as soon as possible. As I was …

I hate {abhor, deplore, despise, detest and loathe} seizures! (Part 2)

Shortly after Ethan woke up on Saturday, November 20th he began having seizures. He had three while he was sitting on the potty, right after waking up. At first I wasn't overly concerned because I knew that after he went to the bathroom I'd be feeding him and he would get his morning meds, so perhaps the seizures were simply because the previous night's medication had worn off. 
I took Ethan to the living room to play while I got everything ready for his breakfast, but within a minute or two Ethan began crying, which he rarely does unless there is a something wrong. I picked him up but couldn't soothe him and he was seizing again. I woke up Jeff and he tried to comfort Ethan while I finished getting everything ready so I could feed him and get him his medications. Ethan continued to cry, have a seizure, cry, have a seizure, etc. The seizures were coming in clusters. So, we got his breakfast in him, via his tube, and while we were feeding him we decided that we would ne…

I hate {abhor, deplore, despise, detest and loathe} seizures! (Part 1)

Seizures, seizures, seizures! Our lives have started to revolve around these horrific episodes. Not all children with PBD-ZSD develop seizures, and for almost three years we thought Ethan might be one of those kids, but unfortunately shortly before his third birthday he began having them. We had to find the right medication and steroid balance, which took a little bit, but in reality it didn't take that long and then they were under control. Thankfully, this remained true for over two years. However, a couple of months ago they decided they were going to return and return with a vengeance. 
A few months ago when the seizures first began breaking through the neurologist had us begin to increase his dose of Keppra while we waited to get an appointment with her. There is a huge shortage of pediatric neurologists in downstate (outside of Chicago) Illinois, put that is a rant for another time. So, we increased the Keppra, but the seizures continued to breakthrough, so the neurologist …

Wanted: Treatment options for PBD-ZSD and thousands of other rare diseases. Needed: Millions of dollars for research

It's been a pretty rough two weeks in the PBD-ZSD community. Three families I'm connected with via the Global Foundation for Peroxisomal Disorders (GFPD) have had to say goodbye to their children, who bravely fought PBD-ZSD but whose time here on Earth had come to an end, and other parents in our group are currently trying to prepare themselves for the reality that their child may not be with them much longer.

Although we, the GFPD, will never be able to connect with all the families that this horrific disease affects, we know that an estimated 80 babies are born in the US each year with PBD-ZSD and while we can treat some of the symptoms, we, the parents and our children, are desperately in need of more effective treatment options and ultimately a cure.

In the midst of the sadness that is engulfing the PBD-ZSD community, several other disease communities have a reason to be hopefully. Recent articles about potential breakthroughs in the treatment of Neimann Pick Type C, Batte…

If You Only Have Enough Faith....

Several years ago a friend shared with me that she had been confronted by at least one person from her church about her daughter's disabilities and her so called lack of faith that God could heal her daughter, or that there must still be some sort of sin in her or her families lives, etc. that was hindering God's healing or that was responsible for the disability in the first place. My heart broke as this sister in Christ shared this with me. Just yesterday another dear friend of mine had something very similar happen to her, regarding her son's illness. Thankfully, we have not (yet) had anyone tell us that if we only had enough faith that Ethan would be healed or ask us what sins in our lives caused Ethan's disabilities. However, to many people that I have become close with since becoming Ethan's mom have had these hurtful things said to them.

DISCLAIMER: I do believe that some children are born with or develop disabilities because of the sinful actions of their p…

#PAUSEforPBD ---- October 5, 2015

Today, October 5, 2015 is GFPD's #5 Birthday! In honor of this special day,The Global Foundation for Peroxisomal Disordersis asking you to‪#‎PAUSEforPBD‬! For all that know Ethan, and other children and families devastated by Peroxisomal Biogenesis Disorders (PBD), please consider taking a moment to reflect, honor, pray, light a candle, pray, post a picture, donate, write a note, or do something to ‪#‎PAUSE‬ for our children and families. Visit www.thegfpd.orgfor more information on PBD and the mission of The Global Foundation for Peroxisomal Disorders.

#PAUSEforPBD - October 5, 2015

The Global Foundation for Peroxisomal Disorders (GFPD) will be celebrating five years old on October 5th. In honor of our founding day we have designated October 5th as #PAUSEforPBD, a day in which we ask our friends and family to join us in raising awareness of PBD-ZSD and more importantly showing support for the children and families affected by this disease - past, present, and future.

The GFPD is offering a limited edition #PAUSEforPBD shirts that are available in youth t-shirt, adult unisex t-shirt, ladies (fitted) t-shirt, adult unisex long sleeve, and adult hooded sweatshirt styles. For more information on this fundraiser and/or to order your #PAUSEforPBD shirt, please visit:

First Week of Summer Vacation - Busy, Busy, Busy

Ethan's last day of school was Friday, June 12th. I cried. It was an ugly cry. I really loved Ethan's school and it was such a great experience for him this past year. I will miss his school and the opportunities that he had at Valeska. This fall Ethan will be at a new school and a few of his classmates will likely be joining him in the newly created DHH (Deaf and Hard of Hearing) Plus class which is going to be geared specifically for children who are Deaf or Hard of Hearing and have additional challenges. There is still a lot of details to be worked out since this is a completely new class but I am praying that it will be a good fit for Ethan.
One of the biggest fears/concerns with school ending is that last summer Ethan suffered a major regression in his mobility during the summer. Ethan does so much more at school than he does for us at home and the amount of therapy he receives drastically declines during the summer, because in many ways he is receiving therapy all day at…

Kenna: A Documentary

Kenna: A Documentary

This is a beautiful short documentary on Kenna, who is the youngest daughter of our dear friends Shannon and Vicky. The young mann who put this together is a cousin of Kenna's. Kenna's "best friend" Ginny, the oldest daughter of our friends Brant and Melissa is also highlighted. Ginny, as many of you know recently left the arms of her parents for the arms of Jesus, and she is dearly missed by all who knew her.

We consider ourselves blessed to have these families amongst some of our closest friends and in many was really consider them family. To learn more about PBD-ZSD and how you can make a difference in the lives of the children and families impacted by this disease, please visit the Global Foundation for Peroxisomal Disorders (GFPD) website.

Making New Friends

"Family isn't always about blood, sometimes it's about who is there to hold your hand and support you when you need them." ~ Unknown
As most of you know the GFPD has become a second family to us since Ethan's diagnosis. The GFPD family certainly isn't the type of family that most people would ever really "want" to be a part of, and while we always warmly welcome in new families impacted by this diagnosis I think I'm not overstepping when I say that we all wish we would have met under different circumstances. Nevertheless, I am always excited when I get the chance to meet and/or spend time with another family who "gets it."
Two weeks ago I got to meet a family who is new to the GFPD, who happens to live less than hour from us! The mom and I met for lunch and I got to meet her son, who reminds me so much of Ethan when he was younger. We talked about the "good, the bad, and the ugly" and hit it off right away. Her sweet little …

My Heart Breaks for My Friends [and for Ourselves]

In less than two weeks two precious little girls lost their brave battles with PBD-ZSD. Our family has had the privilege of knowing each of these families since we connected with the GFPD. We've even had the opportunity to meet them in person, which is a big deal when you are impacted by a rare disease.

Livi was 4 years old. We had not seen her or her family since the 2013 GFPD Conference in Lincoln, NE but we stayed connected on Facebook through our very active parent support group.
Ginny was 6 years old. We have met her family not only at past conferences, but several other times throughout the last 4 years. I was able to go and visit these dear friends back at the end of February after Ginny had been released from the hospital. It was such a sweet time together. Her mom and I drank coffee, laughed, cried, and prayed. I was also able to love a bit on Ginny and her younger siblings. Our families were also together back in October, when we met up in Kansas City with two other GFPD…

"I don't want to play outside!"

Over the last 4 plus years one of the most frustrating and heartbreaking things for me as a parent of a child with PBD-ZSD has been our lack of ability to communicate with our son. On a daily basis we can see Ethan's frustration and our own at our inadequate understanding of one another.
However, this afternoon after we got home from school and he was successful going potty [this is his most consistent successful potty time for us] I thought perhaps Ethan would like to go outside and perhaps use his walker, play in the grass, let me take some cute pictures of him outside, etc. Ethan however had very different plans. I took him outside and refused to stand in his walker, so he sat on the concrete driveway for just a moment before he started crawling back into the garage towards the van. I thought that he was going to try to get in the van in order to "tell me" he wanted to go somewhere. No, instead he pulled up on the van, cruised around the side and front of the van unti…

Please Support Illinois HB 2790!

Below is an email from Illinois Representative Laura Fine. Rep. Fine is introducing legislation that will add the test for ALD (which also identifies other peroxisomal disorders such as PBD-ZSD and DBPD) to Illinois' newborn screening panel. In her email she outlines ways that both IL residents and those living elsewhere can show their support for this legislation. Identifying children born with ALD (boys and girls who are "carriers") will save lives! Identifying children born with PBD-ZSD or one of the other peroxisomal disorders will give parents the information they need to seek out the best interventions and treatments for symptoms as they arise. All the families who are made aware of one of these diseases will have the knowledge needed to make informed choices about future family building and be able to let other family members know if they may be at risk for either having or passing on these diseases to the next generation. Please take a quick moment to show your …