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 family's journey.
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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…