November 26, 2012

Asking for prayer

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.

Please pray that we will find a solution.

Thank you.

November 22, 2012

Pulling up on the baby gate - November 22, 2012

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!
 

Thanksgiving 2012

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 for lunch and wouldn't really drink anything either. So after lunch we went out in the beautiful weather. Ethan "walked" in his walker and then swung in the swing.




 
Since Ethan wasn't eating, drinking, or napping we had to cut the visit with family short and head back home. Thankfully Ethan took a nap and when he woke up we got some medicine and a little bit of his milk (Bright Beginnings Soy Pediatric Drink) in him.
 
Please continue to pray for us as we battle Ethan's eating and drinking on a daily basis. It can be very frustrating when something that is supposed to be so easy for a child to do is so hard. He seems to have no desire to eat or drink for the most part and is still very aversive to his high chair. Jeff holds him for medicine and meals at night, but during the day it is a real struggle for me to do meds and meals all by myself. Ethan ends up in tears and I'm almost there with him.
 
Thank you for your continued prayers.
 
Happy Thanksgiving from the Marshall family!


Prayers for my friends in China

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.

Little Star

November 20, 2012

Sedated MRI & ABR - November 20, 2012

3:30pm --  We made it -- so glad to be home!
7am - The radiology waiting room. Ethan has no clue how long of a day it will be.

 
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/L
  • 1000 Hz - 65 R/L
  • 2000 Hz - 75 R/L
  • 4000 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't mean that we won't talk to him when he has his hearing aids out, etc.
 
Plus, it appears that he can still hear most of his louder toys even without his hearing aids, although we notice that when his hearing aids are out he typically puts one of his ears closer to the toys --- he is a smart boy! Thankfully, with his hearing aids on it can bump him back up into what they call the "speech bubble."
  
It has been a long day, and may be an even longer afternoon and evening. Thank you for all the thoughts and prayers.

November 18, 2012

"Lorenzo's Oil"


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. 

The film is based on the true story of Augusto and Michaela Odone and their son Lorenzo. In 1984 Lorenzo came down with adrenoleukodystrophy (ALD), a rare inherited disease. Doctors said that he would lose all his functions and die within two to three years. Refusing to accept this grim verdict, the Odones set out on a mission to find a treatment for ALD and to save their child. In their quest for a treatment the Odones often clashed with doctors, scientists, and support groups, who were skeptical that anything could be done about ALD, much less by laypeople. Their relentless struggle tested the strength of their marriage, the depth of their beliefs, and the boundaries of conventional medicine. (www.myelin.org).
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 away from the film, here are just a few:
  1. I am so thankful for how far science/medicine has come in the last 30 years.
  2. I continue to be amazed how far science/medicine still needs to go and how little is known about and/or can be done to treat so many diseases (like X-ALD, PBD-ZSD, and so many others).
  3. I will continue to be absolutely furious that there are boys who have been diagnosed early enough (before they become symptomatic) with X-ALD, that treatment with Lorenzo's Oil could possibly hold off the progression of the disease but they are unable receive this treatment because the FDA still hasn't approved it. There is an ongoing clinical trial but only around 75 to 100 boys are able to be involved in it at any given time --- and with budget cuts there is concern that the funding for the trial won't be available for much longer. To put this into perspective: X-ALD is estimated to have a prevalence rate of 1 in 20,000 individuals  which means that since there were just over 4 million children born in the US in 2008, that more than 200 people are born with X-ALD each year in the USA. While women who are the "carriers" of the disease and do not have the same types of symptoms that males experience, many women begin have a number of health issues later in life due to the disease. Lorenzo's Oil is not a cure, and isn't effective in stopping the progression of the disease in all boys, but it can provide a glimmer of hope for families and it just hurts my heart that all of the boys do not have access to something that could save their life! In addition to Lorenzo's Oil bone marrow and/or cord blood transplants are now options for some boys with X-ALD but again are the most effective if done prior to the boy developing the neurological symptoms (damage to the white matter in the brain.)
  4. I will continue to fight for the newborn screening that will identify boys with X-ALD and children with PBD-ZSD & DBPD! You can learn more about the fight for this newborn screening here
  5. I am so very blessed to be a part of The Global Foundation for Peroxisomal Disorders (GFPD) and that we have an amazing team of physicians and researchers who believe that there is something that can be done to help our kids (even if it hasn't been discovered yet) and that our kids and families are simply not a number to them. We have had so many pioneers in our group. From the families who had children in the DHA studies over 10 years ago, those who have been/are part of the Bile Acid study, those who have courageously fought for the best quality of live for their child (no matter how much time they are here on this Earth), to the families who are looking to participate in the Betaine study in the near future and to all of the parents who have been on this journey long before there was a GFPD. And of course I don't want to forget to honor the countless numbers of families that were changed forever because of PBD-ZSD long before the doctors even had a name for the disease and all that these families knew is that their children had so many health and developmental problems and no one could tell them why (and acknowledge that this is still happening today in many parts of the world). I am so proud to be part of such a brave, strong, and amazing family. GFPD is so very dear to my heart.
  6. While GFPD is the main voice for the PBD-ZSD community there are other parents just like us that are fighting for the lives of their children who are impacted by other rare diseases and that we never know when a "breakthrough" in treatment for another disease might give insight for treatment options and hopefully someday a cure for PBD-ZSD.
  7. While today I fight for Ethan and all the children currently living with PBD-ZSD, I understand that all of this might be indeed more beneficial for the children who are not yet even born. I realize that real treatment options and a cure may not be in Ethan's future, this side of heaven, but that isn't going to stop me from working to make a difference for those who are here now, and the families like mine whose lives have been forever changed by this diagnosis. We aren't going to stop searching, supporting, and praying for treatments and a cure!
Please continue to pray for Ethan and all children and families impacted by PBD-ZSD and if you get a chance, consider watching Lorenzo's Oil. Thank you!


November 15, 2012

Feeling better?

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 Ethan gets the correct stress dosing for the sedation/ABR & MRI next week. She is a wonderful member to our team.

Yesterday was a PJ day for Ethan.

November 13, 2012

Two Firsts

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!

November 7, 2012

Ethan's first haircut - November 7, 2012

Ethan's beautiful curls. I'm pretty sure he won't grow anymore back.

After the cut. I've got a few places I need to try to fix tomorrow, but hopefully I didn't mess it up too much.

Ethan plays Peek A Boo w/ His Daddy - November 7, 2012

Ethan's current favorite game to play is Peek A Boo! We have been working on learning how to play this game for a VERY VERY long time!

Christmas shopping ideas that help you give back

  • 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.

November 2, 2012

Prayer for the De Los Santos family of Uruguay

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.
Sofia, June 20, 2012 - November 1, 2012

November 1, 2012

Happy Halloween and a GREAT start to Novemeber!

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 November started out great -- I didn't have to put the drops in Ethan's right eye, he drank his whole bottle and I got him off to school. While he was at school I jogged 2 miles, went home and got cleaned up and ready for the day and enjoyed a cup of coffee. When I got to school today to pick Ethan up his teacher shared that Ethan had an amazing day. Besides having his first kiss -- he kissed his little friend Lilly!!! He ate a whole 6oz. jar of stage 3 baby food and several oz. of applesauce, sat in the rifton chair without any problems during feeding and speech therapy, stood in his stander for 20 minutes, played and had a great time, never pulled his hearing aids out, his teacher swears he was saying 'hi' all morning, and then when we got ready to leave he "waved" --- open and closed his hand several times to say "bye" to Lilly! I'm not sure if he was just doing it all to impress a girl, but I'll take it! I am so glad that we chose to get involved in the STEPS program. :)