The Journey We Are On.....

World Rare Disease Day is tomorrow (February 28, 2013). This year's theme is "Rare Disorders without Borders! There are Rare Disease Day events going on throughout the United States and around the world sponsored by and affiliated with numerous organizations. If we had not been thrown into the rare disease world on August 20, 2010 when we learned that Ethan had PBD-ZSD, I probably would have never learned or even heard about PBD-ZSD and Rare Disease Day. PBD-ZSD is just one of thousands of rare diseases. Tomorrow is dedicated to uniting the rare disease community, because while "ALONE WE ARE RARE. TOGETHER WE ARE STRONG." Rare Disease Facts (globalgenes.org) In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans. Rare and genetic diseases affect 1 in 10 Americans (30 million people in the US) and 300 million people globally! Over 7,000 distinct rare disease exist and approximately 80% are caused by faulty...

This morning was Ethan's first physical therapy workout on the treadmill. There were no tears, and overall it was a very positive experience.

I believe Ethan must be allergic to school and church. He got to go to school Tuesday and Thursday (after missing the week before because he was full of yellow boogies and coughing) and by Thursday night he was full of yellow boogies, his eyes were red and watery again and the cough was back.   We cancelled PT on Friday due to a combination of the weather and Ethan not feeling well. We are missing c hurch again this morning due to Ethan's boogies and his cough (I don't believe in taking sick kids to the nursery). We've got a busy week, and several appointments in addition to school (if Ethan is feeling better by Tuesday morning) so please continue to pray for our family to be well. Jeff and I still are struggling with the tail end of this cold as well. Is it too much to ask for us to all be "healthy?" I wouldn't think so, but since it seems like we have been sick more days than not since before Thanksgiving, perhaps it is. :(  

The SACHDNC is the only national venue where parents can contribute their experiences and perspectives to the public deliberations on newborn screening. For more information and to show your support/sign the petition, click here . Please take a few minutes and sign the petition. This is to try to save the SACHDNC -- the group that Dr. Raymond and Ann Moser presented the newborn screening for peroxisomal disorders (ALD, PBD-ZSD, and DBPD) too this fall. Although it has not yet been recommended, they will continue to fight. This screening will save the lives of children born with ALD and will give answers to families of children with PBD-ZSD and DBPD so they can be ready to proactively address the complex medical issues that come along with these diseases. There is concern that the SACHDNC will be cut. This group is critical to the future of newborn screenings for peroxisomal disorders and other diseases. Newborn screenings can save lives; allow families to seek the medical resources...

Well, I'm not sure I can say we had a "happy" Valentines day, although we did get to spend the day together (since we are all sick). Ethan has been sick again, for a week and I started getting sick on Tuesday night. And of course, to add to the fun of Ethan being sick he decided to be awake from 3:30-5:30am on Wednesday morning. Yesterday, Jeff took the day off and called his dad to come and help with Ethan so that I could get some rest as well after we all went to the doctor. Ethan and I were really dragging. My poor little guy had goo coming out of his eyes and his nose. His eyes are bloodshot, he wasn't eating or drinking, and was overall very lethargic and just plain miserable. I wasn't doing much better -- crazy headaches, sore throat, body aches, dizzy and nauseous (I think I would have felt better if I could have thrown up), etc. We needed help! The doctor prescribed some eye drops for Ethan, a different antibiotic (since we all remember how Ethan react...

Do you or someone you know wear hearing aids (or needs too)? Did you know that the majority of private health insurance plans have little or no hearing aid coverage (they consider hearing aids cosmetic)? In Illinois, this could hopefully change soon! Bills have been introduced in the Illinois General Assembly that would mandate health insurance to cover up to $2500 per ear every 3 years for individuals of any age. This is wonderful and if passed will NOT have a significant impact on insurance cost/premiums. In my opinion it is the right thing to do! I believe no individual who needs hearing aids and wants them should be denied them simply because they do not have the money to afford them! Illinois residents, please visit this link to learn more and to sign the petition! Let your State Senator and Representative now that everyone in Illinois who needs hearing aids and wants them should have access to them! There are so many families who have private health insurance who do no...

Ethan started feeling sick on Thursday evening. He just got worse over the weekend, and last night was really tough. We started trying to get Ethan to bed at 7pm, he was visibly tired and not feeling well, but he did not go to sleep until almost midnight. We drove twice, we let him "cry" for 10 minutes twice, he refused to drink, he wouldn't play, he was just miserable. He has been full of boogies, and coughing, and just sick.   Here's what he looked like this morning.     It was not looking very good. Jeff and I talked and we agreed it was time to call the doctor. However, by 8:30am, when the office opens, Ethan was looking and acting a bit better, so I waited. A little before 10am we got a call from the audiologist who asked if we could come in and pick up Ethan's new ears! We said YES! So, this afternoon we headed to Springfield.   Ethan loves his new ears. They are larger and more powerful. His reaction/response was wonderful. Our audiologi...

It's been a while since my last post. I wasn't feeling up to writing for a bit. Sometimes there are some pretty tough parts of this journey, and I was sort of in a funk for a while, but overall we've had a pretty good couple of weeks. So what have we been up to since the neurology appointment 2 weeks ago? Fri. 1/25 I took Ethan to the orthotist (Mr. Andy) who makes Ethan's AFOs for a check up and to see if it was time for a new pair. Ethan still has his first pair that he got back in September 2011. Ethan's current AFOs are now too small and too big all at the same time. His feet have grow and as he has grown taller his calves have thinned out, so they need to be longer through the foot and slimmer through the calf and ankle. So, it was just a quick appointment and Mr. Andy just needed to touch base with Ethan's PT and doctor to get the script. He also needed to call our insurance to see if they would play nice and cover them, because if not we were going...

Look at what I can do now! Part 1 Part 2