September 24, 2012

Brooklyn family fights to pass ‘Aidan’s Law’ which would require screening newborns for rare brain disorder ALD

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 ALD

September 22, 2012

A new adventure....

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, Ethan seemed to have a blast "walking around" at church, especially down in the fellowship hall where he had tons of space to explore. He is getting better and better at putting one foot in front of the other. There were a few "misty" eyes from some of our church family when they saw our little man in his walker. While we know that most of our church family admits they "don't understand/get it" it is still encouraging to know that so many people love and pray on a regular basis for our little guy. We are blessed to call First Baptist Church in Mt. Zion, Illinois are church home.

September 21, 2012

Ethan Shows Off - 9/21/2012

Mr. Holland's Opus

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. 

September 16, 2012

We are in trouble, now! - September 16, 2012



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 since yesterday morning. He is still full of yellow boogies and is a bit warm, but seems to still have energy to play and climb (as seen above). I am very thankful that we saw the endocrinologist on Friday. We'll have to wait a few days to do the retest since the results would be off since Ethan is currently on the cortef, but that is okay. We'll get it done once he starts feeling better.

On a different note, Ethan seemed to eat better today than he has in weeks. He has still be drinking his bottle but hasn't wanted to eat any solids/purees. Today for lunch he had a bit of homemade chili - I made it with ground chicken instead of beef hoping that Ethan would at least give it a try, and he seemed to like it. He then had some peach applesauce that had a few tiny pieces of peach in it. Then for dinner he had some mandarin oranges, and instead of pureeing them like I usually do I cut them into tiny little pieces and he seemed to do just fine! I'm so proud of my little man.

Did you know?

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 identified at birth families will not have to undergo months and years of searching for the cause of their child’s delays and health issues. Families will also be able to work with their medical team to be proactive in the treatment and intervention of hearing loss, vision loss, seizures, bleeding issues, adrenal insufficiency and any other symptoms that arise.

Additionally families who have a child who has been identified to have ALD, a PBD-ZSD, or DBPD through a newborn screening will also be aware of their carrier status and thus be able to make an informed decision about the risks and options for future family building.


The Global Foundation for Peroxisomal Disorders is proud to show their support for the ALD newborn screening test that would identify ALD, PBD and DBPD! If a movement towards adopting the ALD newborn screening is happening in your state, please consider showing your support. Legislation has already been introduced in New York and New Jersey. To learn more please visit The Stop ALD Foundation website.

Also, if you or anyone you know is thinking of getting pregnant please check out the carrier screening test by Counsyl. The test screens for carrier status of over hundred different genetic disorders. While the test can not  "catch" everything, it can provide very useful information so that a couple can understand their risks and options for family building. Jeff and I had never heard of anything like this. We knew that individuals could get carrier tested for certain disorders if there was a family history, etc. but we had no idea that something this important was widely available. We have encouraged our siblings to be tested prior to starting a family. For my siblings they will also need a separate test to screen for my PEX 1 mutation since it is not common, but I hope that they will also consider a test like the Counsyl test that will also provide them with more information. Jeff and I never thought it could happen to us. We love Ethan so much, please don't think that we don't. That isn't why we are advocating this, but we know that information can be powerful. For us we knew that if we couldn't have children naturally, we would adopt. If we had known before hand that we had a 1 in 4 chance of having a child with PBD, we could have had a discussion about whether or not we wanted to "risk" it or proceed with building our family via adoption.

September 14, 2012

Ethan "knee" walking - 9/14/2012

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


First Endocrinologist Visit - 9/14/2012

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 feel much better.

Thank you for your continued prayers!

Update
Dr. Green is amazing! She called me personally, not her nurse, to say she had already been in touch with Dr. Raymond (our appointment was this morning at 9am) and they have a plan. We'll do another ACTH and Cortisol draw on Monday morning here in Decatur. Once she get the results we'll either continue with stress dosing for illness or we'll go on a daily maintenance dose.

September 11, 2012

Asking for prayer

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 Pediatric drink, but we are going to need to do an additional Vitamin D supplement. No problem, we can do that! Vitamin D is important so I'm glad we know that he needs more because his body is obviously not absorbing it correctly because of PBD.

Then, this evening just after 5pm the geneticist called again. Ethan's ACTH came in at the end of the day --- at 373!!!! He was at 23 on April 30th (normal range is 7-63). He is calling the endocrinologist in the morning and going to try to get us in this week. I am in shock and disbelief. This is why we have this checked every 5 to 6 months, but Ethan's levels have always been amazing, and now for them to jump like this my stomach is all in knots. I'm hoping that we'll have a script for cortef (steroids) in hand and filled by the end of the week. Please pray that we'll be able to get in ASAP and that they will help us get this addressed. Ethan has been doing such amazing things this past six weeks and I'm scared of what an adrenal crisis could do to my little man. I'm not scared about the extra daily medicine and stress dosing that we'll need to do. I have seen the steroids do wonders for many of Ethan's little friends, but I am am terrified about the possibility that if we don't get this treated soon enough that it will lead to a regression and loss of skills and the progression of the disease.

Please pray that I would have peace and that the endocrinologist will get us in ASAP and will have the wisdom to do what Ethan needs to stay as healthy and happy as he has been. I'm not sure I've been this worried/scared about my sweet boy in a while. This is like a huge punch in the gut by PBD.

September 7, 2012

GFPD Vinyl Window Decal

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.

IL Kids Need Hearing Aid Coverage

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 aids. Some insurances don't cover anything! They won't cover hearing aids, cochlear implants or the audiological services that children with hearing loss need. Most families, even when they are blessed to have one or both parents with "good" jobs can't easily come up with the several thousands of dollars needed for hearing aids.

Please take the time to sign this petition.

September 5, 2012

Ethan crawling on hands and knees - September 5, 2012

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!


Art for Archer - October 20, 2012 in Meridian, Mississippi

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