The Journey We Are On.....

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 Perox...

This afternoon Ethan had his first "official" outpatient physical therapy sessions. Now that he has started preschool he will have PT at school but we know that he will need the extra help/support that he will get through weekly outpatient therapy in addition to what he will receive at school. We are also glad that we will be able to continue working with Ethan's PT, Lindy, who has been with Ethan since he started the STEPS program in August 2012. It is great that she knows Ethan, has been working with him a while, and she can help his school PT understand more about Ethan -- what works, what hasn't, his strengths, what he continues to struggle with, etc. and they will be coordinating in some ways to make sure that we are all working to help Ethan reach new gross motor milestones. Today was Ethan's first day using the parallel bars. He had a great session. This boy really wants to walk, although I am pretty sure that once he gets the hang of it he will be runn...

Jeff and I are hoping to raise money for PBD-ZSD research by hosting a 5K Fun Run/Walk hopefully in September 2014 at Fletcher Park in Mt. Zion. We had hoped that we could have our first Pound the Pavement for PBD-ZSD – Central Illinois event this year, but we will need to wait until 2014. If we do this it will be a fun run/walk type event but I figured it out and we will need at least $2500 in sponsorships just to break even. First there is liability insurance which is around $500. If we preorder 100 t-shirts at $10 each that is around $1000 and there are guaranteed to be additional costs of running the event such as security/safety provided by the police dept., advertising/publicity, creation of a website which allows for online registration, etc that will add up fast. Lots of details that must be worked out and expenses that must be underwritten by sponsors if we are going to make the run/walk profitable and an annual event. I believe it ca n be done but I am very ner...

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.

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. Pl...

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. :)

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!

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...

I'm so excited that we'll be getting this little man a taller walker this weekend!

News out of NY today regarding the ALD newborn screening that would also identify children born with PBD-ZSD and another related peroxisomal disorder, D-Bifunctional Protein Deficiency (DBPD). This newborn screening is needed in every state across the country. It can save the lives of hundreds of children with ALD and also allow for families of children with PBD-ZSD or DBPD have a correct diagnosis without having to search for months or even years to find out the cause of their child's medical issues and developmental delays, and allow them to seek proper medical care and interventions for their child. This screening would also allow parents of children with ALD, PBD-ZSD, and DBPD make informed decisions about the risks and options for future family building. Read the article: Brooklyn family fights to pass ‘Aidan’s Law’ which would require screening newborns for rare brain disorder AL D

We took Ethan's walker with us to church for the first time this afternoon when we went for the new addition's open house - which includes an elevator to the basement/fellowship hall and new handicap accessible restrooms. We are using a sling on the walker that gives Ethan more of the support he needs, but the walker he currently has is too short, so he isn't "walking" as well as he should.  However, next weekend he'll be getting a taller walker from his friend Ginny. Ginny is 4 and from Tulsa,  and she has been walking independently for well over a year, so she doesn't need her walker anymore. The new larger walker should help a lot, since it will "force" Ethan to bear more weight through his legs. The walker Ethan has been using, that was originally Sam's from Nebraska, and then Kenna's from Carrollton, Illinois, will now be ready for the next GFPD family that needs it. It works great, but our little man is just too tall. Regardless, ...

Watching "Mr. Holland's Opus" for the first time since having Ethan. While Ethan is obviously more than just hard of hearing/deaf, this clip showing the mom sharing how much she wants to be able to communicate with her son, speaks volumes to what I often feel. I want to be able to hear my son say, "mom," "dad," "I love you," and for him to understand those words from me as well. I am so thankful for the technology and his hearing aids that have helped him enjoy the hearing world around him, and while the cognitive impact of PBD is most likley to blame for why we still don't have much communication, I am thankful that I live in a time and place that is encouraging total communication (talking, sign language, pictures, etc.).  Ethan, we love you and I promise we won't ever stop trying to communicate with you. 

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Ethan started looking sick yesterday while we were in Mt. Vernon attending my Great Grandmother's funeral. Great Grandma was an amazing woman of faith who loved the Lord and her family. She had been ready to "go home" for many years. She was 99 years old, and although she had been in the nursing home for several years and had a lot of trouble remembering who people were in the last few years, she never forgot the old hymns that she played on the piano and organ at Marlow General Baptist church for the majority of her adult life. Most often she was accompanied by my other Great Grandma who went to be with the Lord when I was pregnant with Ethan. I consider myself very blessed to have such amazing examples of strong, determined, women of faith growing up. I have visions of these two ladies now in heaven with the Lord and so many of their loved ones who went before them. We made sure to take Ethan's cortef (steroids) with us and we've been stress dosing Ethan...

Did you know that in 2009 there were 4,130,665 children born in the USA ? With a prevalence rate for Adrenoleukodystrophy (also known as ALD and/or X-ALD) estimated at 1 in 20,000 that means 206 children were most likely born with ALD that year and PBD (including DBPD) has a prevalence rate estimated at 1 in 50,000 so that means most likely 82 children were born with PBD (and/or DBPD) just that year as well. Early detection and treatments such as Lorenzo’s Oil, a modified diet, treatment for adrenal inefficiency, bone marrow and/or cord blood transplants can give boys with ALD and their families hope that only a few decades ago was not possible in light of this diagnosis. Although at this time, treatment for PBD-ZSD and DBPD are symptomatic, an early and correct diagnosis makes a difference for families. Many families wait months and even years before receiving a diagnosis of a PBD-ZSD or DBPD- many receiving multiple incorrect diagnoses along the way. If children were identi...

If I hadn't caught this on video, I'm not sure I'd believe it. This boy is determined to MOVE!

We saw the endocrinologist this morning over in Springfield. She seems nice and was willing to learn more about PBD-ZSD and consult with Dr. Raymond, the PBD-ZSD expert, which is always a good thing in my mind. While Ethan is of course her first PBD-ZSD kid, she sees kids that have adrenal issues for lots of reasons, so I think we'll be in good hands. We left with a prescription for cortef to be used for stress dosing if Ethan gets sick before we do more tests to determine if he needs a daily dose. She is going to touch base with Dr. Raymond him before ordering the next test to double check levels and make recommendations from there. We were in agreement that we have to get this taken care of before his sedated ABR and MRI in November because anaesthesia is a major stress on the body and that Ethan should be stress dosed for the procedure to do all that we can do to avoid an adrenal crisis. So, the issue hasn't be fully addressed yet, but a plan is in place, which makes me fe...

Asking for prayer from all my prayer warriors out there. Yesterday we went up to Carle for blood work. Ethan has been on the higher dose of Cystadane (betaine) for a month now so we wanted to check to see if it has made any positive impact to his VLCFA levels and there were a few other things that needed to be checked including his Vitamin D level and his ACTH levels (we check ACTH every 5 to 6 months because most children with PBD develop adrenal problems at some point in time). This morning while Ethan was at school I got a call from our geneticist and his nurse. I left Ethan at school for the first time today and he did great, but that is for another post. They called to let me know that two of the labs had come back so far and the rest were still pending and would take a while, some like the VLCFA will take several weeks. Well, the test showed that Ethan has low levels of Vitamin D. He already takes a multivitamin and gets additional Vitamin D from his Bright Beginnings Pediatr...

What to show your support for the Global Foundation for Peroxisomal Disorders (GFPD) and families like ours that have been changed forever because of PBD? For just $10 you can by a GFPD Vinyl Window Decal. Check us out on ebay .