The Journey We Are On.....

The last three weeks have sort of been a haze of therapy and doctor appointments. Having a full calendar along with all the dreary weather hasn't made April feel very "springy." I am looking forward to nice sunny warm weather so Ethan and I can get back outside everyday even if it is just for a 30 minute walk/stroller ride. We are also continuing to wait to find out what is going to happen with our insurance coverage of the formula. We are hoping to have more answer within the next 60 days. The supplier has up to 30 days to bill the insurance and then insurance has up to 60 days to reimburse them, so we won't know until that happens if the insurance is actually covering the formula and if so, at what rate. Let's just say it is a BIG headache! Monday, April 8th Ethan's vision therapist came to our house. Tuesday, April 9th Ethan's hearing therapist came to our house. Wednesday, April 10th Ethan saw the pediatric surgeon at Carle. We were ...

If you live in the Atlanta, GA or Baltimore, MD areas and/or have friends and families in those areas who enjoy participating in 5K Walk/Run events for a charity there are events raising money for the Global Foundation for Peroxisomal Disorders this weekend (Atlanta’s event is Saturday, Baltimore’s is on Sunday). You can still register the morning of the race! For more information please visit: https://www.facebook.com/#!/GlobalFoundPD  or the specific event pages ---  Pound the Pavement for Peter in Atlanta, GA on Saturday and Ilan-a-thon in Baltimore, MD on Sunday .

The 2nd Annual Pancakes for PBD-ZSD event is an all you can eat pancake and sausage breakfast benifit to raise funds to offset the cost for our family to attend the 2013 Global Foundation for Peroxisomal Disorders (GFPD) Conference in Lincoln, Nebraska this summer. Any money raised above what we will go to help other families impacted by PBD-ZSD attend the 2013 GFPD Conference. Saturday, May 18th 7:00-11:00am First Baptist Church (Mt. Zion, IL) $5 per person / $20 max per family (Children 5 and under eat FREE) Families like ours, who are impacted by PBD-ZSD, look forward to the GFPD Conference each year. This is the one place where we can be with other families that understand this diagnosis, learn about the latest research, and have our children seen by the top PBD-ZSD specialists in North America. For more information about the Global Foundation for Peroxisomal Disorders (GFPD) and PBD-ZSD (Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder) pleas...

I've not had the emotional energy to write much the last few weeks. I've been feeling pretty overwhelmed by the reality of the PBD-ZSD diagnosis on both our family personally and on my GFPD family at large. Wednesday, March 20th We took Ethan to our primary doctor's office because of his decreased intake and assumed that we would be heading to our local hospital for IV fluids. Our doctor thought that instead of staying locally we needed to head to the larger hospital about an hour away which has several of our specialists, including our GI. While we were actually waiting to see our doctor I got the call from the nurse at the GI's office with the date for Ethan's feeding tube surgery - May 8th. While the doctor was examining Ethan he said that he didn't think Ethan could wait that long, and that he was going to call the pediatrician/hospitalist at the larger hospital and see about getting us admitted for IV fluids that afternoon. So, we came home and packed ou...

Ethan woke up on Friday morning with temperature of 102, but I was able to get it down and keep it down throughout the day with Tylenol and ibuprofen. Later during the day I found out that one of his little friends from STEPS was sick -- throwing up A LOT --- and I got worried, thinking that it would just be a matter of time before the puking started at our house. However, it never came. Yesterday morning Ethan woke up again with a temperature (101.8) and once again we treated it throughout the day with Tylenol and ibuprofen. He was a bit more quiet than usual and wouldn't drink or eat great (but that isn't very unusual for our little man) and he still has his cough and all the boogies (possibly from aspirating small amounts of fluid into his lungs -- which is why he is going to be getting a feeding tube) but since he didn't seem to be getting worse and we were able to manage the temp we thought it was going to be okay. Ethan is also working on two teeth --- both molars. ...

I feel like I have been on an emotional roller coaster for the past couple of weeks -- I've shed tears of thanksgiving, happiness, and joy as well as those of deep sorrow and dispair. Friday, March 1st I joined two other local moms of kiddos with special needs in a panel discussion about being a parent of a child with special needs at a local MOPS group. It was rough, but I think it went okay. When I am feeling up to it I will write out my answers to some of the questions that were asked. The journeys for myself and my two friends are all very different and unique to our child and their diagnosis but the feelings and emotions that go along with this journey are very similar. We spoke of our child's health issues and how it impacts our marriages, friendships, finances and every aspect of our lives. We also shared ideas for moms of typically developing children that might help them educate both themselves and their children about children with special needs and their families...

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...