December 19, 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 asleep during the test, although it isn't required.




Thursday's EEG started out well, all things considered. Ethan got hooked up and pretty quickly after that was able to settle down and sleep. Jeff has been able to accompany us to the EEG's and he curls up with Ethan so that Ethan feels safe and will go to sleep. More than half way through the test Ethan began having seizures. They were lasting anywhere from 10 to 20 seconds each and began to cluster, one after another. At five minutes we gave him his rescue medication, diazepam, and although it took several minutes for the seizures to stop, they did. During this time the EEG technicians were still recording/monitoring because it allowed them to "see" that the seizures were stopping. The diazepam makes Ethan very sleepy, and so as began to really kick in the electrodes were taken off and Jeff and I comforted him while we discussed whether we needed to head down to the ER or if we'd be okay at home. Ultimately, we decided to go home since Ethan was sleeping and the seizures had stopped. We did ask the EEG technicians to go ahead and call the neurologist who would be reading the EEG and have them contact us if they felt that we needed to come back to the ER.




So, we came home and Ethan was resting, taking a nap, so we felt comfortable enough for Jeff to head to work. Sadly, Jeff wasn't at work long before I called him to let him know that I had received a phone call from the nurse at the neurologist's office and that he had read the EEG and wanted Ethan to be admitted to the hospital for further observation with the hope that something could be figured out to help get the seizures back under control. Thankfully, because Ethan was doing okay at home, we were told that unless something changed that we could stay at home until someone from admitting called to let us know that there was a room available on the pediatric floor for him. This allowed us to not only take the time needed to pack and prepare but also eliminated the need for us spend hours in the ER. Several hours later the three of us were up at the hospital, and although it still took nearly an hour of waiting before we were settled into our room, I was so thankful that we didn't have to go through the ER to be admitted.


Soon after we arrived the nurses and the residents touched base with us and let us know that there wasn't going to be a lot done except having Ethan being observed. We spoke at length with the resident about why we were even being admitted if nothing was going to be done, but ultimately it came down to the fact that if we stayed that we'd get to see the neurologist in the morning, so we stayed.


On Friday morning we saw the neurologist, Dr. S. There is a huge shortage of pediatric neurologists nationwide, but specifically in IL, especially in our area of the state. Our local children's hospital has had a lot of trouble staffing the neurology department and we have been trying to get a neurologist here since we moved in July 2014. One way that they are doing this is by "contracting" neurologists, so Dr. S., comes to our children's hospital one week a month, during which he not only sees children who are hospitalized but will also see a limited amount of patients in clinic (for regularly scheduled appointments). Jeff and I both liked Dr. S., who admitted that although he had seen two other children with PBD-ZSD in the past, Ethan is the oldest and most "mildly" affected that he had ever seen and that he was surprised to see Ethan doing so well. Dr. S. spent a long time with Ethan and us, and told us that he would do a bit more reading and would comeback in the afternoon with a game plan. He was also very open to contacting the PBD-ZSD specialists, which is very important to me, because not only have many of the top PBD-ZSD specialists in North America seen Ethan in clinic during the GFPD conferences, but it also lets us know that he is a team player.


After Dr. S. returned in the afternoon it was decided that we would start slowly decreasing Onfi, increase Topamax, keep Keppra the same (this was recently increased), and begin introducing Phenobarbital. We also have an appointment to see him in 4 weeks and we will be admitted to the hospital for a 24 hour EEG earlier in the same week as the appointment so that he can see how the new medication regiment is working. We have a detailed decreasing Onfi and increasing Phenobarbital schedule that we will be following between now and then. While Dr. S. is only in our area for one week each month he is available by phone and email. There is also a nurse practitioner, who has extensive experience in neurology, who will meet with us during our upcoming  appointment who will also be a part of Ethan's care team.


By the time we arrived home last night we basically bathed Ethan, feed him, and then it was bedtime. We were all exhausted. Being in the hospital, for even one night, is draining, and then was an "easy" stay because Ethan didn't have an IV and wasn't hooked up to anything. Although, we hadn't expected to start Christmas break off this way, since Ethan was supposed to go back to school on Thursday after the EEG and then have outpatient PT that afternoon, and Friday he was going to have an orthopedic appointment in the morning before going to school for the last day of school for the year, it is what it is.


Ethan was really tired today. The changes in the medications seem to really impact his energy level, and we are hoping and praying that over the next two weeks while he is on Christmas break his little body will begin to adjust and he will be less sleepy. We want to (and need to) stop the seizures, but we also don't want Ethan to be drugged up all the time. I want to see my little boy's smile and personality and there is always a fear that the drugs that are designed to control the seizures could steal his smile and personality away from us in the process. We do not want that to happen.




Prayer Requests
  • Wisdom for the medical professionals to prescribe the right medications and doses of those medications so that Ethan's seizures will be controlled and he will have the least amount of side effects possible.
  • An end to the seizures and that Ethan (and us) would never have to deal with them again.
  • Effective treatment options and ultimately a cure for PBD-ZSD in Ethan's lifetime, that would be available in time to help us give Ethan a better quality of life.
  • Wisdom, guidance, patience and strength for Jeff and I as we join in the decision making process in regards to how we treat the seizures and manage the possible side effects.
  • Strength and energy for Ethan as his body adapts and that he will be able to continue to learn and make progress in his own way.
  • Peace and joy during the Christmas season, as it is extremely difficult to get into the Christmas spirit while things seem so uncertain and our energy is spent elsewhere.
  • For hearts and lives to be transformed by the gifts of love and grace of Jesus Christ.





December 9, 2015

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 and to find a way to keep the seizures under control for good, however having the diazepam stop the cluster seizures allows for us to care for Ethan at home, unless there is a change in his breathing, etc., without needing to go to the hospital. A dear friend is going to be sending us a pulse ox, which we will be able to use to check Ethan's oxygen levels during and after a cluster seizure and the administration of the diazepam.
  • I heard back from our DSCC care coordinator, and just like we had both assumed, Ethan is still nowhere near close enough to scoring the points required to be eligible for the MFTD Medicaid waiver.
Now to the fun stuff!


Pictures from the field trip to Bass Pro:

"Look, Mom, I found a door. Can we leave?"

"What do you mean we have to stay? We've been here for 10 minutes already."

"I don't care for bowling, but the lights and this shark were pretty cool."

"Mom, why do you want pictures of me with a shark? Should I be worried?"

"Really, another one?"


"This is as much of a smile as you are going to get from me."



"Can we please go back to school now?"


Pictures from the Playhouse Children's Museum (It was a family night for families of children with special needs sponsored by Easter Seals and we were very thankful that it wasn't crowded and admission was discounted. Ethan had a good time, and we stayed an hour, but that was about all that he could handle.):



"Are you sure you know what you're doing, Dad?"


"I've always wanted to drive a combine. Great Grandpa Troutt will be so proud of me, when he hears about this."


 
"Wow, they put corn in a lot of stuff!"

"Thanks, Dad for helping me play the matching game, but why do they put corn in everything?"

"Light table and magnet shapes - score!"

"You want me to put my hands in there..."

"I'm not so sure about this..."

"Okay, maybe just a little..."

"Look at all the butterflies!"

"They are landing on our shadows."
"How does this work?"
 

 
"Oh, I figured it out!"



December 8, 2015

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 (who is 2 hours away) and she directed us to increase his Onfi again (we had just increased it on Saturday).

We were home before 11am and Ethan was a little tired but otherwise playing like he usually does. He did take a good nap from about 1:15pm to 2:45pm and woke up ready to play, and still went to bed for the night a little after 8pm without much fuss. We didn't see another seizure all day and friends from our small group at church made us dinner, which was very nice (and delicious).

This morning I took Ethan to school and then stuck around for a little while. I spoke with the nurses who care for him at school and then saw him working with his OT and then during circle time. I left around 10am, and so far, things must be going okay (it is a little after 2pm right now) because I haven't gotten a call from school.

I've spent much of my day on the phone.

  • I spoke with Ethan's DSCC care coordinator to see if the recent changes in seizure activity and the subsequent ER visits make a difference in making Ethan eligible for our state's Medically Fragile and Technology Dependent (MFTD) Medicaid waiver program, which would allow Ethan to have Medicaid as a secondary insurance and access to other services such as respite care. Unfortunately, the care coordinator does not think Ethan will "score" high enough to be eligible, but she is going to double check with others in her office who are care coordinators for children on the MFTD waiver. [Every state gets to decide under what circumstances a child with disabilities, whose family's income is above the cutoff to financially qualify for Medicaid, can be eligible for Medicaid, and the qualifications/requirements vary greatly by state. IL is one of the worst states when it comes to services for children and adults with disabilities.]
  • I spoke with the nurse at Ethan's neurologist's office and she is going to talk to the doctor and get back to me. I wondered if the strength/dose of Ethan's rescue medication might need to be raised, and if the reason it wasn't stopping the seizures was because it simply wasn't strong enough. My hope is that a higher dose is still considered safe for my little guy and that if the need arises to use it once again that it would actually stop the seizures, and then we could simply monitor him closely at home as long as his breathing is fine, etc. 
  • I spoke with Ethan's nurse case manager through his pediatrician's office, filling her in on the last several days and asking her to talk to Ethan's pediatrician about a number of things, including if she could find out if the new neurologist that we are hoping to get Ethan into next month (we still don't have an appointment) is a doctor who is a supporter of the use of medical cannabis (marijuana) for children with uncontrollable epilepsy. I also asked her if she would get our pediatrician's thoughts on it. At this point we are very open to learning about all the possible avenues we could take to try to get these seizures under control. 
Prayer Requests:
  • All the same requests from Sunday
  • Ethan has a field trip tomorrow. I pray that he would be able to go on it (I'll be going with) and that he won't have any seizures while we are out in the community visiting Santa. 
  • Wisdom about medical cannabis. I have begun reading more about Charlotte's Web, which is a hemp oil, and therefore is legal and available for use without a medical cannabis card. We have not yet pursued a medical cannabis card for Ethan, and the oils are not yet available at the Illinois dispensaries, so even if we had a card and the required script we would not be able to obtain it "locally." We also want to see if the clinical trial for Epidiolex is still accepting new patients, and if they are, find out if Ethan a possible candidate. My understanding is that the trial is not accepting new patients at this time, but you never know until you try.
  • I would like to start some annual local fundraising events for the GFPD to raise money for PBD-ZSD research. The top PBD-ZSD researchers in North America and Europe have several promising ideas that they would like to pursue, but it takes money to do so, and research dollars for rare diseases are rather limited, so the GFPD and other rare disease patient/family organizations find themselves in a place where they need to raise the money needed to help find possible treatments and ultimately cures for the diseases that affect their loved ones. However, I'm going to need a team of people who will help me with this. Please pray for a team of 5 to 10 people to step up and volunteer to be part of a planning committee who can help me establish a fundraising event or two that can be successful in raising awareness and much needed financial support for research. 


December 4, 2015

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 driving to school the nurse called and said that the Diazepam had not yet stopped the seizures and asked if I wanted her to call 911. Obviously, I said yes, and called Jeff to let him know what was going on and ask him to meet us at the ER.



It is about a 10 minute drive from our house to the school and the ambulance beat me there and Ethan was already strapped onto the stretcher when I arrived. This momma held it together, but I was a mess on the inside. The seizures had stopped by the time I got there but they had lasted for approximately 12 minutes. It wasn't one continuous seizure, but rather a cluster, so he would have one, it would end, and then he'd go right into another one. Nasty stuff, none the less.



I'm not sure what it is about school that seems to make his seizures appear to be worse, and everyone who works with him has tried to determine if there is something that is "triggering" them, but so far there is no indication that that is the case. So, just like our ambulance ride from the school to hospital back on Friday, November 13th, off we went. The paramedics were great with him and there were ready for us at the hospital when we arrived. Jeff got there just a few minutes after we did.



They started an IV and drew blood for testing, did a chest x-ray to help rule out a respiratory infection, swapped him for the flu and RSV and thankfully everything came back normal, which is good, but it also doesn't help explain why the seizures continue to break through. Ethan was given an IV dose of Keppra before we were discharged with a plan to up all of his anti-seizure medications. So, this evening we increased the Keppra and tomorrow we will increase the Onfi and the Topamax (which was already scheduled to increase tomorrow anyway).



We were at the ER for about 4 hours and we are very appreciative that one of the pastors from our church stopped by to check on us, to visit, and to pray with and for our family. Pastor Aaron read to us a well known passage that we keep going back to over and over again ---



"Rejoice in the Lord always. I will say it again" Rejoice! Let your gentleness by evident to all. The Lord is near. Do not be anxious about anything, but in every situation, by prayer and petition, with thanksgiving, present your requests to God. And the peace of God, which transcends all understanding, will guard your hearts and your minds in Christ Jesus. Finally, brothers and sisters, whatever is true, whatever is noble, whatever is right, whatever is pure, whatever is lovely, whatever is admirable - if anything is excellent or praiseworthy - think about such things. Whatever you have learned or received or heard from me, or seen in me - put it into practice. And the God of peace will be with you." (Philippians 4:4-9)



Jeff had just reread this passage to me earlier this week before we prayed one night before bed. We know that God is good and loving and that He loves Ethan even more than we do. We know in our hearts and in our minds that God is going to take care of our son, but as Ethan's parents it is really hard to not worry about this stuff.



We are in a place right now that I feel like the seizures (and PBD-ZSD in general) are our "fiery furnace." For those who might not know the story, you can learn about the three young Hebrew men, Shadrach, Meshach and Abednego and King Nebuchadnezzar's fiery furnace in Daniel 3 and/or from the Shane & Shane song "Burn Us Up" (thanks, Pastor Aaron).  So many times in the last several months as we have been really struggling with the seizures I think of the reply that these young men made when facing uncertain death by a foreign king -- "If we are thrown into the blazing furnace, the God we serve is able to deliver us from it, and He will deliver us from Your Majesty's hand. But even if He does not, we want you to know, Your Majesty, that we will not serve your gods or worship the image of gold you have set up." (Daniel 3:17-18).



Obviously, our battle with seizures is not the same as being thrown into a fiery furnace to die (if you don't know how Shadrach, Meshach, and Abednego's story turns out, you should really check it out), however we are standing up and saying that even if God doesn't take these away and even if he doesn't heal our son this side of Heaven we aren't going to turn away from Him. I'm a simple sinner saved through grace who continues to fail my Savior each and every day, and who still has questions and doubts especially when it comes to the suffering that occurs in this broken world we currently call home, but I know that God has a plan and that He has not left us, even when it is hard to see the purpose behind all of this and it is nearly impossible not to ask why. (Romans 8 is a good place to read about God's presence in the midst of suffering).



Are we upset, sad, worried, concerned, and scared about the seizures? ABSOLUTELY. Do we desperately want relief and healing for our son? YES. However, even in the midst of our frustration and our sorrow we are not hopeless and we haven't given up on God. Rather we know that it is now that we need to cling to Him.



Hebrews 13:5b - 6, assures us that "because God has said, 'Never will I leave you; never will I forsake you.' So we can say with confidence, 'The Lord is my helper; I will not be afraid. What can mere mortals do to me?" and Psalm 46:1 tells us, "God is our refuge and strength, an ever-present help in trouble." I know these things deep down in my soul, but to be completely honest, I still have a hard time sometimes, because being Ethan's mom is tough. I love our little boy so much and it hurts so much to see him suffer and there be so little that I can do to make it stop. I can't cure PBD-ZSD. I can't make his little brain stop seizing or fix every single cell in his body that is damaged because of this horrible disease. As his mom, I want to be able to do that for him and selfishly for us. I know God has the power to heal my son, this side of heaven, but I also know that just because God can do something doesn't mean that He will (that's a whole different topic).



So, right now we are just going to focus on trying to do our best to love Ethan and get him access to the doctors and medications that we pray will help stop the seizures in addition to praying for them to go away. We would like to ask you to join us in praying for:

  • Ethan's seizures would go away -- whether that be through a supernatural miracle or medical miracle --- because we do believe that God has allowed for medications and treatments and that He often uses them. 
  • Ethan to not be scared or frightened or in pain during the seizures and for the medications to not have any adverse side effects.
  • The doctors treating Ethan and that we could get an appointment to see the local pediatric neurologist ASAP.
  • Jeff and I would feel God's presence and His peace, strength, and comfort so completely that it is overwhelming and undeniable. That we would be able to recognize and enjoy all the great moments that we have with Ethan and not let them be overshadowed by the "bad"ones and that we can be the parents Ethan needs and deserves.
  • Healing, the development of effective treatment options for PBD-ZSD, and ultimately a cure. For the doctors and scientists who are dedicated to finding ways to improve the quality of life for our children. For success in awareness campaigns and fundraising efforts so that more research can be done.
  • The teachers, nurses, therapists, and other staff members who work with Ethan at school. 
  • Our country and world. For all those who are currently suffering because of the sinful acts of others. For the refugees around the world who have been forced out of their homes due to violence and fear. For the families who have lost loved ones in the recent mass shootings in CO and CA. For the thousands of families who lose a loved one every year because of gun violence.
  • Our witness and relationship with Christ and with one another. That despite our sinful nature and human failings, those around us would be able to see that we have put our faith in Christ and that it is because of Him that we can still have hope and joy even in the midst of suffering. That we would cling to one another and support each other and Ethan during these difficult times.
  • Our family and friends who don't know Christ. Our hearts are heavy for the many people we deeply care about who do not know the forgiveness, grace, and love that only Jesus can give. 







November 23, 2015

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 needed to go to the ER after administering his rescue medication, diazepam.

The diazepam is administered rectally, which obviously Ethan didn't enjoy, but we were able to give it to him and it did calm him down and we were able to take turns holding and comforting him while the other got dressed and ready to head to the hospital. I was very thankfully that just a few days before a dear friend had shared about her daughter's reaction to the medication, so that I knew what to expect. In the few minutes it took us to get ready and load up the van, Ethan was asleep. 

Thankfully, even with the snow that fell overnight and with what was continuing to come down steadily, the roads weren't too bad and we made good time to the hospital. Upon arrival to the ER, we were promptly seen and put into a room. Ethan's vitals checked, and although he was awake he was pretty drowsy due to the diazepam, everything was really stable and he was doing really well. One of the main concerns with diazepam, the nurse explained is that in some cases children's oxygen levels can drop, so it was important to monitor that. 

The nurses and in the ER were very kind, and the medical student who saw us remembered us from our visit to the ER the week before. It took a little while but eventually the doctor saw us and checked Ethan out and then went to call the neurologist who was on call. After he had consulted with the on call neurologist he returned to see us and he assured us that we had done the right thing --- get the regular meds in, administered the diazepam, and came to the hospital. He also said that now that we know that Ethan appeared to tolerate the diazepam well, that we wouldn't necessarily have to come to the hospital if we had to give it to him as long as we closely monitored him and he didn't start seizing again right after the effects of the medication wore off. 

There were no new recommendations, and we were told to continue with the schedule to slowly increase the Topamax over time until it we reached the goal dosage. So, about three hours after we arrived, we left with a prescription for a refill of the diazepam. Walgreens didn't have the diazepam so Jeff dropped Ethan and I off at home and then adventured back out into the weather in search of the medication. After several stops, a trip home, lunch, and a trip back to another pharmacy the diazepam was purchased and brought home. Jeff was on a mission, and I'm thankful that we were able to get it so that we knew that we would have it if we needed it again.

We stayed home from church yesterday and Ethan had four seizures that we know of, but they were short/brief ones. Today he had one this morning shortly after waking up and then another short one when I dropped him off at school. When I picked him up from school this afternoon the teacher reported that he had a great day and that besides the one seizure that happened when he first got to school they hadn't seen any during the school day, which was great. Ethan's teacher, the assistants, and all the staff have really handled this like champs and I am so thankful that the majority of them have had at least some experience with children with complex needs like Ethan. Also, because the nurses who oversee the children like Ethan in the building are well versed and ready to handle seizures and other situations that may arise; it makes me feel more comfortable about leaving him at school since I know that he is being properly cared for and that I can trust them to call me if there is a problem. 

So, what do we do now? 
  • We continue Ethan's daily medication regimen which includes: hydrocortisone (for adrenal insufficiency), Prevacid (for reflux), vitamin K (to help with proper blood clotting), Keppra (for the seizures), Onfi (for the seizures), Topamax (for the seizures), a multivitamin, and DHA supplement. Over the next three weeks we will continue to gradually increase the Topamax to see if that will help bring the seizures under control. 
  • We keep loving our son and helping him be as happy and healthy as possible.
  • We keep praying and asking you to pray for us as we look for a solution to the seizures and for wisdom, courage, patience, and peace with not only this but all aspects of dealing with the effects of this horrific disease on Ethan and our family.
  • We keep praying for medical/scientific breakthroughs that will lead to effective treatment options for PBD-ZSD. Ethan, and all the kids with PBD-ZSD need treatment options that will make a real difference in the quality of life for individuals with this disease. 
  • We keep spreading awareness and advocating for research in partnership with the Global Foundation for Peroxisomal Disorders
 

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 then prescribed Onfi. We had a lot of reservations about Onfi and the potential side effects, and while our neurologist listened to our concerns she was still adamant that she wanted him to try it.  

Within a few days adding Onfi his balance was affected and it has remained so, although he's been on it know for about two months. The Onfi has not taken the seizures away, and when we finally got in to see the neurologist on  November 3rd she made a several week plan for increasing the dose of Onfi to see if a higher dose was needed to be effective. If the seizures continued once we reached the goal dose and/or the side effects worsened then we would start to wean off Onfi and we would try something else. There are a lot of different anti-seizure drugs and finding the one or the combination of medications that will help control the seizures is in many ways trial and error.

So, on Tuesday, November 3rd we left the neurologists office with a plan and the hopes that in a couple of weeks we would either see the seizures lessen and hopefully disappear all therefore and if not then we would move on to looking at other medications. However, just one week later on Tuesday, November 10th I got my first call from school regarding seizures that were enough of a concern to the teacher and nurse that I went and got him from school. Of course, this also happened to be a day that neither our pediatrician or our neurologist were in their offices. So, after talking to nurses at both offices we went to prompt care to have Ethan checked out, just to make sure there wasn't anything else going on such as an infection that was lowering would explain why the seizures were worse than normal. The doctor though that one of his ears looked red, so he might have an ear infection and he prescribed an antibiotic. So, we came home and started him on the antibiotic and all seemed to be fine. He was still having the little break through quick seizures, but nothing significant or lasting more than a couple of seconds.

Wednesday, November 11th was Veteran's Day so there was no school, which was okay since that would allow for Ethan to have two doses of antibiotics before returning to school on Thursday. Thursday was a good day, his teacher and other staff didn't see any seizures, which was great to hear. However, this happiness was short lived.

On Friday, November 13th I got a call from the school nurse around 2 pm that Ethan was once again having out of control seizures and so I headed to school to pick him up. By the time I go to the school they had gotten so bad that the nurse was ready to call 911. So, I held my sweet boy as she called for the ambulance. Ethan's teacher had to help me call Jeff, because I could hardly think straight as we got ready for the ambulance to arrive. Thankfully, it didn't take very long and by the time the paramedics arrived Ethan's seizures had stopped, but he was also very worn out. Ethan had one short/brief seizure in the ambulance on the ride to the hospital and we were admitted via the Emergency Room/Department. Jeff arrived shortly after we got there. We were still in the ER when Jeff's parents and sister arrived, who are a two hour drive away.

We spent almost 5 hours in the ER before we were admitted to the pediatric floor. This picture was taken early shortly after we arrived.  


 By the time we got upstairs to the pediatric floor it was past time to give Ethan his evening meds and feeding. Thankfully, although they put an IV in, they never hooked it up and so Ethan was free to still move around. Ethan finally went to bed and they did hook him up to the pulse ox so they could measure his oxygen levels, but other than that nothing was really accomplished that night as it wouldn't be until the next morning that we would see the neurologist.

Jeff's family headed to our house to sleep and we tried to settle in for the night -- which is never easy at the hospital. None of us slept well, and at one point in the night I asked the nurse to remove Ethan's pulse ox because he kept waking up, you could tell it was bothering him to have it attached to his toe. Thankfully, after it was removed Ethan slept better, even if his parents didn't.

Early the next morning Ethan enjoyed riding in the wagon and we checked out the playroom, but he wasn't very interested in hanging out there although he did find one toy he liked and we took it back to the room with us.


Sometime mid-morning we met the neurologist, who flies from Detroit, MI to our city in IL on the weekends to help cover the hospital (remember the shortage of pediatric neurologist that I mentioned)!!! The doctor seemed to be a very knowledgeable physician who freely admitted that he had never treated a child with PBD-ZSD and wanted to know if we knew of any particular anti-seizure medication that seemed to work with PBD-ZSD kids. Unfortunately, similar to other individuals with seizures, there isn't a one-size fits all anti-seizure medication that seems to help children with PBD-ZSD who have seizures. We spoke of the pros and cons of several medications, and also had a lengthy discussion about CBD oil and medical marijuana. After talking over the medication options we decided to add Topamax to the mix. Unfortunately, Topamax, like many other anti-seizure medications must be gradually increased, so it will take about four weeks to get up to a therapeutic level. We were also prescribed a "rescue" medication, diazepam, to be used in an emergency if he was having another uncontrollable cluster of seizures, like what had led to us coming to the hospital.

The doctor felt like we had a good plan in place, and that a referral would be made to the local pediatric neurologist with the hope that he would take Ethan (the doctor is brand new to the area and will be the only pediatric neurologist seeing patients in clinic so he is going to be swamped with referrals and therefore he is reviewing them carefully before accepting a patient --- remember that pediatric neurologist shortage I mentioned before) so we were free to go home. It still took a while before we were actually discharged, but we were thankful to be back home in the afternoon and that Jeff's parents and sister stayed and visited for several hours, giving Jeff and I a chance to rest and catch up on things around the house while played with Ethan.

To be continued....

Here's a few facts about seizures from the Epilepsy Foundation
  • 65 MILLION people around the world have epilepsy.
  • Over 2 MILLION people in the U.S. have epilepsy.
  • 1 in 26 people in the U.S. will develop epilepsy at some point in their lifetime.
  • Between 4 and 10 out of 1,000 people on earth live with active seizures at any one time.
  • There are 150,000 new cases of epilepsy in the U.S. each year.
  •  One-third of people with epilepsy live with uncontrollable seizures because not available treatment works for them.
  • 6 out of 10 people with epilepsy do not know the underlying reason/cause of their seizures.



November 12, 2015

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, Batten disease, LCA, and a specific type of cancer are worth celebrating, not only because we rejoice with these families at the prospect of being able to improve the quality of life for their loved ones, but selfishly because we hope that the knowledge gained in these efforts will be able to be applied to PBD-ZSD.

There is research being done on peroxisomal disorders, but as a parent of a 5 year old whose daily life and little body is affected by this disease, science isn't moving fast enough. I want effective treatment options and ultimately a cure. Earlier this week I read a post titled "A Disease Murdered My Daughter, and I Want Justice," and when I read that I felt like you could replace cancer with PBD-ZSD and you would have a post written by many families within the GFPD community. PBD-ZSD has not yet taken Ethan's life, he's still with us, but it has and continues to steal so much from him, from us, and from every family this disease touches. I am thankful that I am able to serve on the Board of Directors of the Global Foundation for Peroxisomal Disorders and that for years before we had ever heard of PBD-ZSD there were parents who were finding each other, networking, and looking for ways to improve the quality of life of their children. It is this groundwork that allowed for the formation of the GFPD in 2010.

Over the last five years there has been progress made. The scientists and researchers are gaining more of an understanding of this complex disease. There has been one clinical trial, although unfortunately the results were not what we had all hoped. There are PBD-ZSD fly models and mice models, there are cell lines that are being used for drug screenings, to see if there are any medications that have already been "invented" that might increase peroxisome function. There have been some potential leads, but honestly there is a lot of work to be done and at this time no one can promise us that a viable treatment option is going to be available within the next year or two years that has the potential to be a game changer for families who are given the news that their child has PBD-ZSD.

Last week a friend shared with me a blog post, "When Celebrities Suddenly Care about Rare Diseases" which spoke of the recent awareness and fundraising efforts for Batten Disease in light of the diagnosis of Hollywood producer Gordon Gray's two daughters. Many of his celebrity friends have rallied behind him in raising money for research in order to hopefully find a treatment that will save his children's lives. In many ways the attention that the Gray family and their friends have brought to Batten Disease is a really great thing. People are talking, people are fundraising, people are looking for a cure. However, before the Gray family ever heard of Batten Disease there were hundreds of parents, just every day people, who were fighting for their children and in memory of their children. Not all diseases have a celebrity backer. PBD-ZSD doesn't. Please know that I don't want any child or family to be impacted by PBD-ZSD, every diagnosis is heartbreaking. Yet, the awareness and funding for treatment options and a cure for diseases/disorders/conditions that have the support of a celebrity is something that frequently is what it takes to move the science forward.

However, grassroots movements can still be mighty. You only have to look at what is going on with American politics today to see that when a person believes in something or someone and there are enough like-minded individuals out there than when they unite they can become a force to be reckoned with. Will you join our family and the GFPD family in pushing for the development of effective treatment options and hopefully one day a cure? Will you share our story and the story of hundreds of other children with PBD-ZSD with your friends and family? Will you consider making a donation to GFPD and/or using your family/community network to put together an awareness and fundraising event/campaign? Ideas for "large" events: golf scramble, bowling tournament, family fun run/walks, dinner dance, charity concert, fishing tournament, art auction, etc.. Ideas for "smaller" events: pancake breakfast, spaghetti dinner, chili supper, fish fry, organize an evening with a local restaurant to give a percentage of sales to GFPD --- most people love to eat, and if they can help a good cause while doing it, is always a bonus!

We haven't held a Pancakes for PBD event in a couple of years and when we moved in July 2014 we no longer had the same community support that we had had. However, more than ever I believe that our family has to do more than what we are doing to help raise funds for research. In 2016, my hope is that we can host a Pancakes for PBD all you can eat pancake breakfast once again in at our church that Jeff's family and many of our friends still attend, perhaps in the late spring or early summer, and a Pasta for PBD all you can eat spaghetti dinner with a silent auction in the fall here in the community we live in now (ultimately I would like to see this be a Friday night event with a Saturday morning Pound the Pavement for PBD 5K Family Fun Run/Walk event the next day -- but that is going to take some time to become a reality). I would love to see these become annual events, with the goal of raising a minimum of $10,000 a year for GFPD that would be earmarked for research. We are going to need a lot of help to do this! If you would be willing to join with our family in these efforts, please let me know.

We have been so blessed by the support of our friends and family over the last five years. Many of you have generously donated to GFPD in honor of Ethan, have volunteered with and/or attended a past Pancakes for PBD event, purchased an Exercising for Ethan or a #PauseforPBD shirt, and/or lifted us up in prayer. We are so thankful for that, and can't imagine what the last five years would be like if we didn't have your love, support, and prayers.

Today, I find myself not wanting to just be a mom who is part of a foundation, but a mom on a mission to save my son's life. I hope you will join me!


October 9, 2015

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 parents (or other adults). Substance exposure in utero and/or physical, sexual, and/or emotional abuse and neglect after birth can directly lead to children being impacted for life. However, these are not the types of circumstances that cause the majority of disabilities among children, and it is definitely not the case for why Ethan has PBD-ZSD or why many of my friends children have debilitating diseases/disorders/conditions.

The Old Testament book of Job provides us with a clear picture of "bad things happening to good people," through no fault of their own, although the people around him (friends and family) asked what he he had done to bring about his suffering. Additionally, in the Bible in the ninth chapter of the book of John we learn about Jesus healing a man who was blind from birth. His followers wanted to know whose sin had caused the man to be blind. '"Neither this man nor his parents sinned,” said Jesus, “but this happened so that the works of God might be displayed in him." (John 9:3). The Apostle Paul, a man of great faith, prayed for the thorn in his flesh (which no one fully knows what that was, but we know that Paul suffered due to it) to be taken away. "Three times I pleaded with the Lord about this, that it should leave me. But he [God] said to me, 'My grace is sufficient for you, for my power is made perfect in weakness.'" (2 Corinthians 12:8-9). The Old Testament and the New Testament is full of stories of the people of God who endured suffering.

I attend a ladies Bible study at our church. We are currently studying the book of Matthew, and this week's lesson happened to focus on the miracles of Jesus found in the eighth and ninth chapters of Matthew. As we discussed these miracles and how frequently Jesus would respond that it was by or through faith that they were healed, I shared my friend's story from a few years ago with the group. I also let them know that I believe with all of my mind, body and soul that God has the power to heal Ethan. I don't doubt that at all. I believe that if it was God's will that Ethan be healed that he would be, and in a blink of an eye my son would be free from PBD-ZSD. However, I also understand, that as much as I pray for that miracle, that Ethan being miraculously healed here on Earth may not be God's will. Does that reality hurt this momma's heart? Absolutely. Does acknowledging that mean that I don't have enough faith? I don't think so.

I'm not going to even pretend to fully understand the mind or will of God, and I freely admit that I have a lot of questions about why there is so much pain and suffering in this world. John Piper has a short article on "Why God Doesn't Fully Explain Pain" that I find encouraging, and serves as a reminder no matter how hard things get for us here in this live that God is still in control, He is still good and we can trust Him.

I think that as believers we need to think more clearly about what we say to people who are hurting. Telling someone that "If they just had enough faith (fill in the blank) will happen" is frequently exactly what NOT to say. Dr. Joe McKeever wrote an article titled, "How Not to Minister to the Hurting," that I have found helpful in addressing many of the hurtful things that most of us are guilty of saying/doing (although that was never our intention) and also in providing useful information about more helpful and meaningful ways to come alongside someone who is hurting. He ends the article with this:

 Let's conclude with the single best thing to say in almost all situations-- a house fire, a job loss, the death of a friend, whatever. No one has ever improved on this line: "I'm so sorry." Administered with a hug. Repeat that line if you wish. You can even add, "My heart is so sad for you." But then stop. You said enough. Quit talking, even though the urge is welling up inside you. Squelch it. You have gotten it perfect. Now, be quiet.

It is likely that we have all been hurt at one time or another by someone who said something that was supposed to be comforting but really wasn't and we're probably guilty of doing it ourselves from time to time. I know that the way that I respond to people and situations today is in many ways very different than I would have five years ago. I'm far from perfect and I know I frequently don't know what the right thing to say is, so perhaps I also need to work on doing more of what Dr. Joe McKeever suggests: Saying, "I'm so sorry. My heart is so sad for you." Giving hugs, lifting others up in prayer, and being quiet.

*For more "Say/Do This not That" suggestions check out my Their Words, My Thoughts page.

October 5, 2015

#PAUSEforPBD ---- October 5, 2015


Today, October 5, 2015 is GFPD's #5 Birthday! In honor of this special day,The Global Foundation for Peroxisomal Disorders is 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.org for more information on PBD and the mission of The Global Foundation for Peroxisomal Disorders.

September 17, 2015

#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: https://www.bonfirefunds.com/pauseforpbd.



June 22, 2015

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.
Last Day of School
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 school because his teachers make him work hard! Additionally, Ethan gets bored at home but many of the activities that you would do during the summer with a typically developing almost 5 year are not appropriate for Ethan and/or it isn't something that he is going to enjoy. Therefore, staying active/busy can be a challenge for us. However, we found a number of things to keep us busy during our first week of summer vacation.

Monday - Ethan and I had lunch and a play date with friends from church.
Tuesday - We walked with a friend in the morning and then went to the Farm Park and met up with a different friend from church and her two kids. In the evening we went to church and Ethan played with one of the ladies on Ethan's "team" and Jeff and I spent some time together in prayer and reading the Bible.
Checking stuff out at the Farm Park


Wednesday - Ethan began summer therapy services from our school district today. Our district does not have a summer school program for kids like Ethan, but in his IEP we have made sure that he receives summer therapy services. There are 5 weeks of summer therapy services, but during the first week he was still in school at Valeska, so he'll only be getting 4 weeks of therapy with our school district. His therapy takes place at the school (TJ) that he'll be attending in the Fall, so we are getting a little bit of a opportunity to help familiarize Ethan with the new surroundings. Ethan had Speech in the early morning, and then we came back in the afternoon for Physical Therapy. Ethan also got a haircut! He wasn't very happy about the haircut this time and although it isn't perfect, because Ethan was DONE, I still think she did a good job. 

Thursday - Ethan had Occupational Therapy at TJ, and Speech at Easter Seals in the morning. Then in the afternoon we returned to Easter Seals for Physical Therapy. He worked hard! Ethan likes being out of the house and typically loves school/therapy but he didn't seem to enjoy all the trips back and forth.

Friday - Ethan had an appointment with his new Orthopedic. We have been concerned about how much his feet/legs are turning in while he walks. At this point it appears to not be bone related, most likely due to low tone and the doctor admitted that he'd never seen a kid with PBD-ZSD so we will be getting some hip x-rays done just to check and make sure there isn't something going on that we need to address sooner than later. We will be getting those done soon. For now Ethan will continue to wear his AFOs and we keep encouraging as much weight bearing and walking as possible.  

Saturday - We took our first family trip to the local nature park. The trails weren't extremely wheelchair/stroller friendly so we could only go so far before we had to turn around, but we had a nice little walk. It was a morning to be outside. In the evening we had a fellowship with our Sunday morning Bible Study group at Safety Town. We'd never been to Safety Town before but it is this really weird yet cool park that is a place where kids can ride their bikes. 



Sunday - Father's Day! We started the morning off with a meeting at church with Ethan's "team." We've added two new members, for a total of eight ladies who volunteer to be Ethan's one-on-one so that Jeff and I can attend Sunday School and the Worship Service knowing that he is cared for. We've also made the decision to move Ethan from the crawler room up to the older toddler room (18-24 months) and also have him push into the young 2s class for Bible Story Time during the Sunday School hour. After church we spent the day here at home together. I'm very thankful for Jeff. He is a great dad and Ethan loves him so much!

I'm pretty sure not all of our summer will be as busy as this first week, but in many ways busy is okay especially since Ethan doesn't really enjoy being at home and frequently crawls to the door to the garage and bangs on it because he wants to leave! Being Ethan's mom isn't easy but these days there is almost as much laughter and happiness as their is tears and sadness. I'm praying that this will be a great summer for Ethan and our family.





May 25, 2015

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.

May 6, 2015

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 guy even took a nap in my arms. We are looking forward to getting together with their family for dinner soon and having our husbands and all the kids meet. They have a healthy typically developing daughter as well as their son who was recently diagnosed with PBD-ZSD. 

On Sunday afternoon on our way back from OK, we stopped in MO and meet another GFPD family! We've been connected via the GFPD parent group with this family for a while, but it was the first time that we had met in person. Our visit was pretty short, since we still had a very long drive ahead of us, but it was still so nice to meet them and look forward to seeing them again this summer at the GFPD conference. 


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.
They were both completely worn out by the time both of our families had made the trip to Lincoln!


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 families.
Ginny, Ethan, Kenna, and Sam -- It isn't exactly easy getting kids with PBD-ZSD to "smile" for a group picture. :)


My heart hurts so much for my friends. I hate this disease. I don't doubt that their little girls are with Jesus, healed completely of this horrific disease and worshiping the One who created them, who knew them as He knit them together in their mothers' wombs (see Psalm 139:13-16). However, this human mommy heart still aches and grieves, and while I hold strong to the promises and hope that I have in Jesus, as my Savior and Lord, I still can't stop hurting for my friends and for us, because it has been a while since I felt the strength of PBD-ZSDs destructive power so strong.

Over the weekend Jeff, Ethan, and I traveled to Oklahoma to attend Ginny's funeral and celebrate her life alongside of our friends. Several other GFPD families were able to make the trip as well and I hope that we were all able to be of some comfort to the family. The prayer service on Friday night and the funeral service on Saturday morning were both uplifting and honored Ginny's life, and the loving dedicated parents, extended family, and all who were touched by her in some way. Ginny loved music, and one of the beautiful songs that was played on Saturday was Laura Story's "Blessings." I am so thankful that our friends share our faith in the Lord and have the assurance that Ginny is with the Creator of the universe, who loves her even more than they do (which is impossible to even try to imagine), and that one day they will be reunited with her in Heaven, in the presence of Jesus.

While Ginny, Livi, and so many other children affected by PBD-ZSD are no longer physically here on Earth, their memories and legacies live on on in the hearts of all who knew them.

Friends, if you do not have a personal relationship with God through His Son, Jesus, I pray that you would come to know Him. For more information please check out "It's All About Jesus!" and "The Story."

"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 until he reached the steps that take you back into the house, and then he got down and crawl/climbed up the stairs and through the door [that I had opened when I figured out what he was doing]. 

Ethan clearly didn't want to be outside. As soon as we came back in the house he crawled to the living room and began playing with his toys. He knew what he wanted and he didn't care that his Mommy wanted some pictures of him "playing" outside on a beautiful May day. For those brief moments I felt like I could hear him telling me so very clearly, "I don't want to play outside!" 

Since Ethan "babbles" a bit and makes sounds (happy, sad, mad, etc.) I have a small idea of what Ethan's voice sounds like, but I often wonder what it would be like if he could talk and/or communicate more clearly through the use of sign language or picture cards. We have to guess at so many things with Ethan and he can't always express himself -- it is very hard on a mom when her child can't tell her what is wrong or what he wants. Most parents experience this frustration for a short period of months or perhaps a year or two before their child's ability to communicate gradually increases, but for us, this frustration and communication barrier continues to linger, and likely will for Ethan's entire life. We continue to work on finding ways to increase his communication -- he has an amazing team of teachers and therapists who are working with him and small/tiny gains are being made but they are indeed incredibly slow and limited. Yet, we will celebrate each accomplishment, no matter how insignificant it may appear to the rest of the world. 

March 20, 2015

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 support.

Thank you!




Dear all,

My bill has posted to committee and people can now sign on as proponents.  We have 34 co-sponsors so far!  

I would appreciate it if you would ask the ALD community to do two things:

1) Illinois residents, should contact their state representative and state senator and ask them to support HB 2790.  If they don't know who their representatives are, they can go to the following website to find out, http://www.elections.il.gov/districtlocator/addressfinder.aspx

2) All supporters should go the Illinois General Assembly's website (instruction below) and sign their name or organization as a proponent. Proponents do not have to be from Illinois.
    
To register as a proponent, please go to: 

-Scroll down the list of bills and find HB 2790.
-Click on Create Witness Slip on the far right.
-Fill out the slip. 
-For Part IV TESTIMONY, 
-if filing a written testimony, please select "Written Statement Filed" and email your testimony to repfine@gmail.com.
-If attending the hearing and would like to testify, should there be an opportunity, please select "Oral".  
-If attending the hearing, but don't want to testify please select "Record of Appearance Only".
-If not attending the hearing and just signing on as a proponent, please select "Record of Appearance Only".

Again, the bill will be heard in:
Human Services Committee 
Wednesday, March 25 at 8:00 a.m.
Room C-1- Stratton Building in Springfield (Stratton building is the building right next to the State Capitol Building).

If you know of others who will be attending the hearing, please ask them to email or call me.  My chief legislative aide, Shiva, will be in Springfield as well and can be reached on her cell at 773-875-4158.   

For those who are planning to testify, please meet in my office at 7:30 on Wednesday, March 25 for a briefing.  My office is at 31-E Stratton Building, Springfield.  

If you are driving and needing to park, once you get to the Capitol, on 2nd Street, take a right onto Edwards Street, on the corner of Edwards & College, there is Boone’s Saloon and the visitor’s parking is directly behind Boone’s Saloon.

Thank you very much for all your help.  

Kindly,
Laura Fine
State Representative, 17th District

1812 Waukegan Rd., Suite A
Glenview, IL 60025
Tel:  847-998-1717
Fax: 847-998-1707