The Journey We Are On.....

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 .

Did you know that most insurance companies consider hearing aids "cosmetic"? While IL and most states now provide newborn hearing screening, because they understand the importance of early intervention for children with hearing loss (hearing aids, cochlear implants, speech therapy, hearing services, introduction to sign language, etc.)many families struggle to find a way to pay the $2,000 to $3,000 that EACH hearing aid costs. If a family qualifies for IL's All Kids program there is coverage and other families can qualify for help through DSCC but that too is income based. We were very lucky that when Ethan was fitted for his first pair at four months old that we qualified for DSCC, but due to Jeff's raise we no longer due. While we are blessed that Jeff has a good job, and that our insurance does cover some of the costs associated with hearing aids there is a lot that they don't cover. Including ongoing hearing tests, earmolds, and a good portion of the hearing...

We finally caught Ethan on video. He is up to 4 and 5 "cycles" at a time now, and he was crawling like crazy yesterday morning at school. He still prefers to combat crawl though, since he can move much faster that way, but as he gets better on his hands and knees I'm sure that will change. We are so proud of our little man!

If you live in or around Meridian, Mississippi please consider checking out "Art for Archer" next month! Ethan and Archer are buddies and both have PBD-ZSD. "Art for Archer" will benefit the Global Foundation for Peroxisomal Disorders. https://www.facebook.com/ArtForArcher