Skip to main content

Wednesday, April 27th - Grump-o-saurus!

Ethan had his nine month check-up today with Dr. Smith. Everything looks great. My "little" man weighed in at 19 pounds and 10 ounces and was 29 inches long! Take that "Failure to Thrive"! We are so very proud and excited about how well he has been growing. Right now as it comes to growth he is an "average" 9 month old - which is very awesome! I remember so well when we were taking him to get weighed every week just to make sure that he was gaining weight! Not anymore!

Dr. Smith is going to make the referral for us to take Ethan to Shriner's Hospital in St. Louis. After visiting the orthopedic in Springfield last week we would feel more comfortable finding a more comprehensive team, plus there is the financial aspect of it all. Having kids is expensive - and kids with special needs are even more so! Dr. Smith was also glad to hear that next month Ethan will be getting his classes - we go May 12th to see Dr. Leuder at Children's Hospital in St. Louis for those and he was very excited that this summer while we are in Omaha, NE for the GFPD Family and Scientific Conference that Ethan will be seen by the PBD specialists - Dr. Raymond and Dr. Bravermann. Overall, it was a great appointment.

My biggest concern at the moment is Ethan's grumpiness. While I am so very thankful that he is sleeping through the night, he doesn't like to nap. Therefore, he is a very grumpy little boy most days. This isn't fun for him or me. I also believe that he may be teething, and although we can't see or feel anything in there, they may still be giving him so grief, which is another reason he might be such a gump-o-saurus most of the time.

Ethan is continuing to practice sitting, and he seems to be getting stronger each day. We are so very proud of him.

We have so much to be thankful for.


  1. If you need anything at all when you come to St. Louis, please let me know! Even if you have a minute to get together...I would love that too! We are praying for Ethan and your family!

  2. I was a treated on a regular basis as patient at Shriner's Hospital from age 4-21 (when I was no longer a "child") for a metabolic disorder (a form of rickets). This is a wonderful hospital! I hope that the staff of nurses and doctors and the experiences you have there are as blessed as mine were.


Post a Comment

Popular posts from this blog

So much and so little to write about...

When I started this blog I don't think that I could have imagined a time would come in which months would go by without me writing. However, that is what has happened.

So much has changed over the last almost eight years since Ethan's birth and subsequent diagnosis with PBD-ZSD, yet at the same time so much hasn't. Unlike parents of typically developing children we find ourselves still parenting a child with complex medical needs who's developmental skills range anywhere from 9 to 18 months. Ethan still has PBD-ZSD, and right now his uncontrollable seizures are a major issue. We still fight PBD-ZSD the best we can each day with a basket full of medications and supplements and other medical interventions (feeding tube, cochlear implant, AFOs, etc), numerous therapies, school (which Ethan loves), and prayer. We advocate for him and all children and families impacted by PBD-ZSD and related peroxisomal disorders through our involvement in the Global Foundation for Peroxiso…

#PauseForPBD -- October 5, 2017

October 5th is a special day for our family as we celebrate #PauseForPBD, the annual awareness day for The Global Foundation for Peroxisomal Disorders (GFPD). [Jeff's birthday also happens to be October 5th but he doesn't seem to mind sharing it with #PauseForPBD day.] Our son, Ethan, is 7 years old and is one of less than 200 children, known to the GFPD, living worldwide with Peroxisome Biogenesis Disorder (PBD).  Ethan has a contagious smile and laugh, despite the fact that PBD has caused him to have severe cognitive and physical delays. Peroxisome Biogenesis Disorder (also known as Zellweger Spectrum Disorder), is a rare, genetic condition affecting multiple organ systems in the the body. PBD is generally fatal in childhood. As a parent, it is difficult to express the sense of loneliness and feelings of isolation that enter your life when your child has a rare genetic disease that most people have never heard or and has no cure.
However, #PauseForPBD, is a day that brings o…

Faces of Peroxisomal Biogenesis Disorders

This Saturday we are hosting the first annual Pancakes for PBD benefit.  All the proceeds will go to the Global Foundation for Peroxisomal Disorders to help offset the costs for our family and others like us to attend this summer's 2012 Family Support Conference in Orlando, FL.  We hope that this will become an annual tradition and allow us to help raise awareness and money for peroxisomal biogenesis disorders.

Here are just a few of the faces of PBD.