October 30, 2012

OT Progress - October 30, 2012

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 :)

October 25, 2012

Hearing Aid Coverage for Kids

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.

Please consider signing this petition and letting the state know that insurance companies should be required to cover hearing aids for children. The leadership team behind the petition has a meeting set with an Illinois elected official, but we would really like to have 1,000 or more signatures on the petition before then. Thank you for signing and for spreading the word. https://www.change.org/petitions/state-of-illinois-legislators-pass-legislation-that-would-mandate-hearing-aid-coverage-for-children#

October 22, 2012

Vision Therapy - October 22, 2012

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.


October 21, 2012

Ethan "walking" outside - October 21, 2012

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!


October 13, 2012

Test Results after 1 month of the new dose of betaine (Cystadane)

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. Please continue to keep Ethan in your prayers and all families impacted by PBD-ZSD. Pray that the proposed clinical trial will soon be underway so that other children will have access to this medicine -- because what if it is helping? If it is, we want as many families as possible to have access. No, it isn't a cure, but if it could mean that individuals with PBD-ZSD have a better quality of life, it is a huge step in the right direction!

Okay, so they tested a bunch of different things and levels, but the C24/C22 and C26/C22 ratios/levels are the ones that the doctors seem to be watching the closest because Dr. Braverman said in an email to me that, "these ratios seem to be the most sensitive indicator for VLCFAs." 

Ethan's C24/C22 levels

  • December 2011: 1.865
  • April 2012: 1.606
  • September 2012: 1.407

Normal controls are 0.84 +/- 0.10 ----- so you can see that while it is only a slight trend, it is getting "closer" to normal.

Ethan's C26/C22 levels

  • December 2011: 0.353
  • April 2012: 0.199
  • September 2012: 0.187


Normal controls are 0.01 +/- 0.004 ---- again, you can see that the trend is an improvement even if they are still a long way from normal.

So although it is only slight improvement there is a trend of improvement so that is very encouraging. Overall, I'm very happy! Please keep praying for Ethan, and all the children and families impacted by PBD-ZSD.

Ethan's "new to him" walker - October 13, 2012

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. :)

October 12, 2012

Time to cruise! - October 12, 2012

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!

October 9, 2012

"Slight" Improvement?

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, etc.

Please continue to keep Ethan in your prayers and all families impacted by PBD. Pray that the proposed clinical trial will soon be underway so that other children will have access to this medicine -- because what if it is helping? If it is, we want as many families as possible to have access. No, it isn't a cure, but if it could mean that individuals with PBD have a better quality of life, it is a huge step in the right direction!

October 1, 2012

Will the real Ethan please stand up?

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.