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!