Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.
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A GFPD friend/family member shared this today. This post, speaks of so many of the things that go through my mind on a daily basis. While the Lord has not yet added to our family and I don't have the "normal" mom experience and while I'm not sure when if every I will -- we continue to pray that someday the Lord would add to our family via adoption -- this mom beautifully captures what is going on in my heart.
Our family ended up having several Christmas celebrations, leading to nearly a week of presents, food and family. As we celebrated the birth of our Savior, my mind took me from the manager to the cross. Although I will readily admit that I don't understand everything, and I often have questions, I know that God is with me and loves me and loves my son even more than I can fathom.
The Christmas season reminds us that God loved us (humanity) so much that the story that He gave of himself and that His son who was born in the most humble of settings through the most unusual and completely supernatural way grew up to be the man who died on the cross, and rose again, defeating death so that we may have eternal life and relationship with Him!
But I trust in your unfailing love; my heart rejoices in your salvation. I will sing the Lord’s praise, for he has been good to me.Psalm 13:5-6
Family & Friends: It
has been a busy year for the Marshall family. We continue to be blessed that
Jeff has his job at Caterpillar, which keeps him busy.He traveled out of town for a couple of
business trips, leaving Pamela and Ethan to fend for themselves a few times,
but they managed. Pamela has continued her role as a stay at home mom, taken on
more responsibility with the Global Foundation for Peroxisomal Disorders
(GFPD), and continues to network with families of children with special needs
and/or complex medical issues both at the local and state level. Ethan has been
learning a lot, and while he continues to fight PBD-ZSD each day he is making
progress in his own way and time.
is a recap of our year: January: Ethan was hospitalized for RSV, learned to put the
balls in his toy dinosaur all by himself, and began to combat crawl.
February: Ethan went to his first college basketball game
(Millikin University’s “Pink” game that raises funds for breast cancer research),
I will admit, I look forward to Ethan's nap time. It isn't that I don't love my son or love being with him, because I do, but I think I can speak for most parents that most of the times babies and toddlers (and even big kids) just need a nap.
Ethan's nap time is typically the time in which I can get things done --- dishes, laundry, take a shower, do work for GFPD, and I admit that sometimes I just sit on the couch and relax for a bit. Today was a day that I had things planned for nap time. I've been working on a project for GFPD that needed to be completed, but Ethan didn't want to sleep today.
I let him cry for a few minutes before I went to rescue him when it became obvious that napping was not on his agenda. So, we curled up on the couch with a blanket and a silly Hallmark or Lifetime Christmas movie (don't remember which) and snuggled. Ethan isn't a snuggler, typically, so I just enjoyed the moment. I sang to him -- it was probably a good thing he …
As you know it has been a rough week for me. In addition to the two kids who are now with Jesus, there is a very little one, named Cash, who is presenting with severe PBD-ZSD (still commonly called Zellweger Syndrome) who needs our prayers tonight. Cash is currently in the hospital and his parents' have set up a Facebook page for him, in which they are sharing updates and prayer concerns. Please keep the Tweedy family in your prayers.
So, in the midst of all this sorrow, Ethan decided to brighten up our day. Tonight he decided that he was finally ready to start putting the coins in his treasure chest all by himself! We have been working on this for nearly six months. It may be a simple task for a typically developing child, but for kids with PBD-ZSD these are the type of things that we celebrate and shout for joy about! The fine motor and visual skills needed to do something like this are things that Ethan has to work so hard to be able to obtain. This made our day!
Two little ones with PBD-ZSD have recently left the arms of their parents for the arms of Jesus. Jackson, age 5, from Georgia passed away yesterday and today we got word that Millie, age 6, from Scotland passed away last week. My heart, and all the hearts of GFPD families across the world, are breaking tonight.
When we found out a couple of days ago that Jackson's homecoming was drawing near I wept. As I cried, Jeff held me tight and I cried, we prayed, and I cried some more. While my heart breaks whenever I hear of another one of our GFPD kid's passing, it is tougher on me when they are a family that I have met in person, and of course as I mourn for my friends' loss I also mourn for us and the reality of this ugly disease called PBD-ZSD that will someday take Ethan away from us is undeniable.
Jeff, Ethan and I had the pleasure of meeting Jackson's mom for the first time at the 2011 GFPD Conference in Nebraska, and then this summer at the 2012 GFPD Conference in Flor…
It has been a bit of a tough week around our house. This past week Ethan's "eating and drinking strike" hit a new all time low and we started off really thinking that it might be time that we have to start seriously talking with the doctors about when the right time to place a g-tube would be. Ethan has always had "issues" when it comes to eating and drinking, and has gone through numerous "phases" when he will just stop eating or drinking, but never really both at the same time for any real length of time. We know that if he stops drinking we can keep him hydrated and nourished by spoon feeding and if he stops eating we can keep him hydrated and nourished through his bottle -- but what is scary for us is when he refuses to do either. This is what we were facing this past week. Ethan hasn't really eaten well in months, but over the last week or so it had just gotten worse and worse and worse.
So, on Monday I began documenting all of his intake aga…
As you know eating and drinking has for the most part always been an on again off again struggle for Ethan. Right now we are going through another really rough patch. He seems to have NO interest at all in eating or drinking. We are very concerned about keeping him hydrated and properly nourished.
Ethan is now able to pull up on the baby gate all by himself. If you try to forget about the possibility of him pulling it down on himself, you can hopefully understand why we are so excited because you can see that he is "almost" standing all by himself -- he is just using the gate for minimual support/stabilization! The stronger we can get his legs and core the closer he'll be to standing without any type of support and someday even taking steps on his own!
I am so thankful that today we are celebrating our third Thanksgiving with Ethan. I remember all too well when we weren't sure if we'd get more than 1 Thanksgiving, Christmas, or even a first birthday.
While the reality of Ethan's PBD-ZSD diagnosis never leaves my thoughts, and everyday is a struggle for Ethan to learn and try to do things that so many others take for granted, I know that I am blessed to still be able to hold, snuggle and love on my sweet boy. The Lord is the author of Ethan's story and it keeps unfolding one day at a time. Only He knows how it will all end.
We headed over to Jeff's parent's house for Thanksgiving with his side of the family. It is the first holiday since Jeff's grandmother has passed away. While we know that she is in heaven with the Lord, it was still hard to not having her with us.
Ethan learned how to play the piano all by himself today!
Ethan didn't want to eat anything today. He wouldn't even open his mouth …
I learned today that sweet Little Star has passed away. I met Star's mom through the GFPD about a year ago. Star's family lives in China. While I do not know if my friend shares my faith, I do believe that Star is in Heaven with the Lord. Please pray that if her family does not know the Lord, that they will come to know Him, and that they will find comfort and peace at this most devistating time and in all the days, weeks, months and years to come.
We won't have MRI results for a few days, and even then it will just be from the ENT regarding the inner ear structure (we won't see the neurologist until January). The ABR went well, there has been some additional loss, but not enough to consider Ethan a cochlear implant candidate at this time. Recovery was hard -- lots of crying from our sweet boy and he was trying to remove the IV all by himself.
After being discharged from the hospital we headed over to audiology and they turned up his hearing aids for us, so he should be getting the amplification he needs. For those interested/curious where Ethan's hearing is now: 500 Hz - 50 R/L1000 Hz - 65 R/L2000 Hz - 75 R/L4000 Hz - 70 R/L
Here is a picture to help explain where Ethan's hearing is without his hearing aids.
So, as you can see, without his hearing aids he is unable to hear most speech sounds. He may realize that we are talking to him, but just not be able to understand what we are saying, -- but that doesn…
Today, I got up the courage to watch
the movie “ Lorenzo's Oil” for the first time since Ethan was diagnosed
with PBD-ZSD. I saw it in college years ago, although I can't remember what class we
watched in in.
If you have never seen the movie, please consider watching it. Here is a link to a trailer of the movie. You can also learn more about the Odone family, the film, and this devastating disorder on The Myelin Project's website.
While Adrenoleukodystrophy (ALD) [also known as X-linked Adrenoleukodystrophy (X-ALD)] is the disease that Lorenzo Odone had (he passed away in 2008 at the age of 30) and Peroxisomal Biogenesis Disorder - Zellweger Spectrum Disorder (PBD-ZSD) which Ethan has are different diseases which are caused by different mutations and inherited in a different way, they are related peroxisomal disorders and have many similarities.
I have to admit that while
I cried a number of times, I made it through better than I thought I would. I
took so many things a…
Ethan hasn't been feeling well since last Wednesday. We were actually at the doctor's office last Wednesday for a physical that Ethan needed to be cleared for the upcoming sedated ABR and MRI. At the time Ethan just had a slight cough and his lungs were clear but we went ahead and started stress dosing him with his steroids in the hope to help his body fight the stress of being sick.
Over the past week the cough and boogies got a lot worse and Ethan hasn't been eating or drinking well. So this morning when he woke up and still didn't seem to be much better I called the doctor's office to get back in. We got an appointment for the afternoon. Ethan is now on antibiotics and hopefully he will be feeling much better by the end of the weekend. We will have to make a decision about the ABR and MRI on Monday, so we want Ethan to get better soon!
I also had a great conversation today with Ethan's endocrinologist. She has been working hard with us to make sure that Etha…
Two firsts for Ethan tonight --- 1) Vicks vapor rub on his chest to hopefully help clear up all the junk. 2) Children's (not infant) ibuprofen now that that he is several months over the age of 2 and just last week hit the 25 pound mark!
Looking for a Christmas gift or a special treat to share at your Christmas party? Check out Tolmie Toffee --- they ship anywhere in the US! All proceeds are donated to PBD-ZSD research. The Tolmie's son, Dane, passed away from PBD-ZSD in 2010. You can learn more about the Tolmie's story on their website. Are you planning on shopping online? If so, please consider using Good Shop and a portion of your purchases will be donated to the Global Foundation for Peroxisomal Disorders. You can also use Good Search everyday to raise money for the GFPD simply by searching the internet.
Please pray for my friend, Andrea De Los Santos and her family. Their daughter left this world for the arms of Jesus. Another little one with PBD-ZSD has been healed forever by the Great Physician. While they share our hope and faith in the Lord, please pray for strength for this this family today in all the days to come as they miss their precious little girl.
We started out our Halloween with a trip to the eye doctor for Ethan. He told us we could stop dilating Ethan's right eye each morning! So excited about that!!! We go back in January and we'll see if we have to continue with drops, think about eye muscle surgery or if the issue has for the time being been "fixed" by the dilation/drops we have been doing for the last three months.
After returning home from the eye doctor we waited for Jeff to get home and then we got Ethan into his Halloween costume. I ordered the dinosaur costume from Carters but when it came in the mail it looked more like a dragon than a dinosaur --- so we decided it could be either. We went to our church's Eats Before Treats and saw friends and some of our family and then visited Jeff's grandpa. The turnout for the event at church was awesome. They actually ended up running out of hot dogs about 10 minutes before it was supposed to end.
So, after a nice end to October, the first day of Nov…
Spoke with the OT today when I got to STEPS to pick up Ethan. Apparently he got the circle in the shape sorter all by himself 4 times today! He won't do it for us at home, of course, but at least he is making progress and showing off at school. LOL :)
I need your help. We need to get around 300 more signatures. Did you know that hearing aids for children are typically not covered by health insurance because they are considered cosmetic?
As a parent of a child with hearing loss in addition to other challenges because of PBD-ZSD, I can tell you that Ethan having hearing aids (and possibily cochlear implants someday if his hearing gets to a point that hearing aids can no longer help) is not "cosmetic," it is a neccessity.
Ethan is using what vision he has really well. His vision teacher is very impressed Ethan's functional vision. Today towards the end of vision therapy we worked on using the tablet to visually motivate Ethan to cruise along the couch.
It was a beautiful day today! We once again took Ethan's walker to church with us so after the service he could "run" around the parking lot after everyone had left. He just had a blast!
You might notice that this is another new walker. The gold walker that was given to us by our friends in Tulsa wasn't really any taller than the other one we already had, so we ended up having to buy a different one. Thankfully we had a bit of money left over from the money we were given this summer from the Mt. Zion Community Ice Cream Social so we used part of it to purchase the walker. The funds that we were given have been a huge blessing to our family.
This afternoon we took the walker outside here at home and played in the driveway. We are loving the amazing weather!
On Tuesday, I just got the call from our geneticist's nurse (at 5pm as she was headed out the door) and the bloodwork that we did after Ethan had been on the new higher dose of Cystadane (betaine) -- the experimental medicine --- came back this afternoon. Apparently our doctor has already been in contact with Dr. Braverman (geneticist from Canada/PBD-ZSD specialist) and they are encouraged because there appears to be a "slight" improvement- with his numbers trending "a bit" closer to "normal." The lab results were put in the mail, and we got them today when we returned home from being out of town.
Are these findings enough to say that the medicine is "working?" I'm not sure we can say that yet, but for now, we can assume it isn't "hurting," and we will be continuing Ethan at the current dosage --- not sure when we will check levels again to see if the "trend" is still occuring, probably in a couple of months. Ple…
Ethan's first minute or so in the new to him walker. Thank you Melissa G. and Vicky M. for making this possible. It is only about a half inch taller than the other one, but it seems to help. We are still going to see if our PT can get us a taller one ordered, though because this one is at the tallest setting and this boy is just going to keep growing. :)
Ethan "cruised" the length of my parents' couch tonight. It was slow and not very pretty, but he did it! It was amazing! To be fair, if the couch was lower, like our's at home, he would have just climbed up instead, but I don't care. I ♥ my little man!
So, I don't have any actual numbers yet, but I just got the call from our geneticist's nurse (at 5pm as she was headed out the door) and the blood work that we did after Ethan had been on the new higher dose of Cystadane (betaine) -- the experimental medicine --- came back this afternoon. Apparently our doctor has already been in contact with Dr. Braverman (geneticist from Canada/PBD specialist) and they are encouraged because there appears to be a "slight" improvement- with his numbers trending "a bit" closer to "normal." The lab results will be put in the mail to me first thing in the morning. When I know more I will share. Are these findings enough to say that the medicine is "working?" I'm not sure we can say that yet, but for now, we can assume it isn't "hurting," and we will be continuing Ethan at the current dosage --- not sure when we will check levels again to see if the "trend" is still occurring, et…
Ethan pulled to a stand in his crib today for the first time! I am so very proud of my little man. I went into his room when I heard him wake up from his nap and there he was, standing! I was on the phone with a good friend from Tulsa, another PBD-ZSD momma, and she got to hear my excitment. It may have taken him 26 months to do it, but who care? Not me!
The crib has now been moved to the very lowest level. Jeff did it this evening right after he got home and heard the news. Hoping it will buy us another week or so until we decide what we are going to do next. I think we'll probably be looking into a tent to go over a mattress on the floor. Safety has to be our number one priority.
News out of NY today regarding the ALD newborn screening that would also identify children born with PBD-ZSD and another related peroxisomal disorder, D-Bifunctional Protein Deficiency (DBPD). This newborn screening is needed in every state across the country. It can save the lives of hundreds of children with ALD and also allow for families of children with PBD-ZSD or DBPD have a correct diagnosis without having to search for months or even years to find out the cause of their child's medical issues and developmental delays, and allow them to seek proper medical care and interventions for their child. This screening would also allow parents of children with ALD, PBD-ZSD, and DBPD make informed decisions about the risks and options for future family building.
We took Ethan's walker with us to church for the first time this afternoon when we went for the new addition's open house - which includes an elevator to the basement/fellowship hall and new handicap accessible restrooms. We are using a sling on the walker that gives Ethan more of the support he needs, but the walker he currently has is too short, so he isn't "walking" as well as he should. However, next weekend he'll be getting a taller walker from his friend Ginny. Ginny is 4 and from Tulsa, and she has been walking independently for well over a year, so she doesn't need her walker anymore. The new larger walker should help a lot, since it will "force" Ethan to bear more weight through his legs. The walker Ethan has been using, that was originally Sam's from Nebraska, and then Kenna's from Carrollton, Illinois, will now be ready for the next GFPD family that needs it. It works great, but our little man is just too tall.
Watching "Mr. Holland's Opus" for the first time since having Ethan. While Ethan is obviously more than just hard of hearing/deaf, this clip showing the mom sharing how much she wants to be able to communicate with her son, speaks volumes to what I often feel. I want to be able to hear my son say, "mom," "dad," "I love you," and for him to understand those words from me as well.
I am so thankful for the technology and his hearing aids that have helped him enjoy the hearing world around him, and while the cognitive impact of PBD is most likley to blame for why we still don't have much communication, I am thankful that I live in a time and place that is encouraging total communication (talking, sign language, pictures, etc.).
Ethan, we love you and I promise we won't ever stop trying to communicate with you.
Ethan started looking sick yesterday while we were in Mt. Vernon attending my Great Grandmother's funeral. Great Grandma was an amazing woman of faith who loved the Lord and her family. She had been ready to "go home" for many years. She was 99 years old, and although she had been in the nursing home for several years and had a lot of trouble remembering who people were in the last few years, she never forgot the old hymns that she played on the piano and organ at Marlow General Baptist church for the majority of her adult life. Most often she was accompanied by my other Great Grandma who went to be with the Lord when I was pregnant with Ethan. I consider myself very blessed to have such amazing examples of strong, determined, women of faith growing up. I have visions of these two ladies now in heaven with the Lord and so many of their loved ones who went before them.
We made sure to take Ethan's cortef (steroids) with us and we've been stress dosing Ethan since…
With a prevalence rate for Adrenoleukodystrophy (also known as ALD and/or X-ALD) estimated at 1 in 20,000 that means 206 children were most likely born with ALD that year and PBD (including DBPD) has a prevalence rate estimated at 1 in 50,000 so that means most likely 82 children were born with PBD (and/or DBPD) just that year as well.
Early detection and treatments such as Lorenzo’s Oil, a modified diet, treatment for adrenal inefficiency, bone marrow and/or cord blood transplants can give boys with ALD and their families hope that only a few decades ago was not possible in light of this diagnosis.
Although at this time, treatment for PBD-ZSD and DBPD are symptomatic, an early and correct diagnosis makes a difference for families. Many families wait months and even years before receiving a diagnosis of a PBD-ZSD or DBPD- many receiving multiple incorrect diagnoses along the way. If children were identified at bi…
We saw the endocrinologist this morning over in Springfield. She seems nice and was willing to learn more about PBD-ZSD and consult with Dr. Raymond, the PBD-ZSD expert, which is always a good thing in my mind. While Ethan is of course her first PBD-ZSD kid, she sees kids that have adrenal issues for lots of reasons, so I think we'll be in good hands.
We left with a prescription for cortef to be used for stress dosing if Ethan gets sick before we do more tests to determine if he needs a daily dose. She is going to touch base with Dr. Raymond him before ordering the next test to double check levels and make recommendations from there. We were in agreement that we have to get this taken care of before his sedated ABR and MRI in November because anaesthesia is a major stress on the body and that Ethan should be stress dosed for the procedure to do all that we can do to avoid an adrenal crisis. So, the issue hasn't be fully addressed yet, but a plan is in place, which makes me fee…
Asking for prayer from all my prayer warriors out there.
Yesterday we went up to Carle for blood work. Ethan has been on the higher dose of Cystadane (betaine) for a month now so we wanted to check to see if it has made any positive impact to his VLCFA levels and there were a few other things that needed to be checked including his Vitamin D level and his ACTH levels (we check ACTH every 5 to 6 months because most children with PBD develop adrenal problems at some point in time).
This morning while Ethan was at school I got a call from our geneticist and his nurse. I left Ethan at school for the first time today and he did great, but that is for another post. They called to let me know that two of the labs had come back so far and the rest were still pending and would take a while, some like the VLCFA will take several weeks. Well, the test showed that Ethan has low levels of Vitamin D. He already takes a multivitamin and gets additional Vitamin D from his Bright Beginnings Pediatric …
What to show your support for the Global Foundation for Peroxisomal Disorders (GFPD) and families like ours that have been changed forever because of PBD? For just $10 you can by a GFPD Vinyl Window Decal. Check us out on ebay.
Did you know that most insurance companies consider hearing aids "cosmetic"? While IL and most states now provide newborn hearing screening, because they understand the importance of early intervention for children with hearing loss (hearing aids, cochlear implants, speech therapy, hearing services, introduction to sign language, etc.)many families struggle to find a way to pay the $2,000 to $3,000 that EACH hearing aid costs.
If a family qualifies for IL's All Kids program there is coverage and other families can qualify for help through DSCC but that too is income based. We were very lucky that when Ethan was fitted for his first pair at four months old that we qualified for DSCC, but due to Jeff's raise we no longer due. While we are blessed that Jeff has a good job, and that our insurance does cover some of the costs associated with hearing aids there is a lot that they don't cover. Including ongoing hearing tests, earmolds, and a good portion of the hearin…
We finally caught Ethan on video. He is up to 4 and 5 "cycles" at a time now, and he was crawling like crazy yesterday morning at school. He still prefers to combat crawl though, since he can move much faster that way, but as he gets better on his hands and knees I'm sure that will change. We are so proud of our little man!
If you live in or around Meridian, Mississippi please consider checking out "Art for Archer" next month! Ethan and Archer are buddies and both have PBD-ZSD. "Art for Archer" will benefit the Global Foundation for Peroxisomal Disorders. https://www.facebook.com/ArtForArcher
The second day at STEPS was a lot better. I think we are going to be able to work out a schedule/routine that works for Ethan. No tears from Ethan (or me) this morning.
Today he had "free play" from 9-10am, PT from 10-10:30am, Speech from 10:30-11am, then he played a little and then it was time for all the kids to go to the gross motor room to play so Ethan went with them and stood in his stander for 25 minutes and played with toys 11:15-11:40am, and then we all came down for circle time 11:45-noon. Ethan started circle time in my lap, then he was done and he crawled/played and made his way to his speech therapist and they sat an clapped, played the drum and smiled along with all the other kids.
Now if we can only find a way to change his feeding schedule and still get all of our meds, food, and liquids in that he needs. He is drinking a bottle in the morning before he goes, but he won't eat there. When we got home today he refused to eat and take his meds for me but di…
Today was Ethan's first day at the STEPS program, a local program for mostly 2 year olds with special needs. It was a really rough morning for Ethan and I. There were lots of tears and Jeff and I stayed the entire time 9am - noon. We will try again on Thursday -- it will just be Ethan and I the next time. Hopefully we can make this work and it can be an enjoyable and positive experience for Ethan.
I think one of the reasons that I was really overwhelmed is that it seemed like so many of the kids in his class are doing so much more than Ethan. There are nine kids in total and more than half are either walking independently or with just a bit of assistance. Almost all of the kids could sit in little rifton chairs for snack time and most are doing some form of self-feeding, some even with utensils! Almost all the kids sat in the rifton chairs for circle time at the end of the day with no problem and seemed to enjoy beating on the drum and the signing of songs, etc. I know that Ethan …