Monday, July 14, 2014

Join us as we participate in the Every Step Walk

YOU CAN HELP!! We are counting down the days until we will be at the Hunter's Hope Family Symposium. On Friday July 25th (which happens to be Hailey's dad's birthday!!!!) we will be walking with other families affected by Leukodystrophy in the Every Step Walk. I just registered our family!! Please check out and SHARE our fundraising page.

Why I'm Walking in Every Step 
I am committed to Every Step because there are many children who don't have a fair chance at a healthy life, simply because they were born in the wrong state. The stories are heartbreaking - and the simple truth - it's preventable. 

I know first hand that Newborn Screening is making a difference in the lives of thousands of children born each day. One heal prick is all it takes. The money I raise will be used by Hunter's Hope to educate and advocate for expanded and universal newborn screening programs, fund research to identify new treatments, and ultimately a cure for Krabbe and Leukodystrophies and support families affected by these devestating diseases. 

Through the Hunter James Kelly Research Institute, The Hunter's Hope Foundation is also activley engaging in research for a cure for Krabbe and other Leukodystrophies.  Donating to Hunter's Hope not only helps advocacy efforts for expanded and universal newborn screening, it is also a tangable way to fight for those now living with Leukodystrophies. 

Please Join Me Today! 
I can't do it without your help. Although every walker is challenged to raise $100, my goal is to raise much more. You can support me by walking or making a donation to my fundraising campaign by clicking on the donate button. If you prefer to write a check, just contact me and I will send you the information. 

While you're here, you might want to spend some time learning more about Krabbe, Leukodystrophies & Newborn Screening. You can also find out more about the children and the families that are helped by all the money we raised. 

Every Step we take together can make a difference!

Thank you! 

Thursday, July 10, 2014

What is Leukodystrophy?

I took this definition of what Leukodystrophy is from Wikipedia:


From Wikipedia, the free encyclopedia
Classification and external resources
T2 weighted axial scan at the level of thecaudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked Adrenoleukodystrophy.
Leukodystrophy is group of disorders characterized by degeneration of the white matter in the brain.[1] The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin in the CNS is produced by oligodendrocytes.[2] When damage occurs to white matter tissue immune responses can lead to inflammation in the CNS, along with loss of myelin.
The word leukodystrophy comes from the Greek roots leuko, white, dys, lack of, and troph, growth. Thus leukodystrophy describes a set of diseases that affect the growth or maintenance of the white matter.


Specific leukodystrophies include (ICD-10 codes are provided where available):
xenobefantosis (G70.3)


Leukodystrophies are mostly inherited disorders. They may be inherited in a recessive, dominant, or X-linked manner, depending on the type of leukodystrophy. The individual articles on each leukodystrophy will describe the particular pattern of inheritance for that disease. There is also a fact sheet describing the different genetic inheritance patterns available from the United Leukodystrophy Foundation.[3]
There are some leukodystrophies that do not appear to be inherited, but rather arise spontaneously. They are still caused by a mutation in a particular gene, but it means that the mutation was not inherited.
Known aggravators of leukodystrophy symptoms include radiation and certain chemotherapeutic treatments for cancer.


The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing and behaviour. There is often a slowdown in mental and physical development (though full, lasting cognizance has been observed, most notably in the case of Hunter Kelly, see 'Public Awareness'). Symptoms vary between specific types of leukodystrophy, as well as between individual patients, and may be difficult to recognise in the early stages of the disease.