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Jason Davis

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Jason Davis
English 2010
Professor Courtney
Report - FINAL
Angels Hands Foundation
Rare diseases impact families across the world in many different, and unique ways. If the
disease is considered rare and you are diagnosed with it, the medical expenses that come with are
hefty and will affect your immediate family in both financial and emotional aspects. Speaking in
a localized perspective, The Angels Hands Foundation knows first handedly what it is like
having children who are diagnosed with rare diseases. The founders, Mark and Roxann
Kristensen, Steve and Sue Stauffer, both have had children with unique and severe diseases.
Additionally they attended a National MPS Conference in 2001, and with these two first-hand
experiences the founders felt obligated to help out the local community. The Angels Hands
Foundation was formed to help families who are currently coping with diseases such as the
various forms of Mucopolysaccharidoses (MPS), Downs syndrome, and over 150 other
diagnosed diseases, as well as 50 undiagnosed conditions. On their website the founders describe
their mission as, Improve the quality of life for individuals living with rare diseases. The
Kristensens, and Stauffers, conquer their mission using several different beneficial strategies to
provide support for a network of families. While such conditions are rare, this issue causes
turmoil in family relations, and continues to impact hundreds of people in our local community.
It is important to discuss how these conditions affect our people, why they affect our people, and

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also to focus on the benefits the Angels Hands Foundation has provided to hundreds of different
families.
The Kristensens son was diagnosed with Mucopolysaccharidoses, which is defined on
MPS Society as, a genetic lysosomal storage disease (LSD) caused by the bodys inability to
produce specific enzymes the missing or insufficient enzyme prevents the proper recycling
process, resulting in the storage of materials in virtually every cell of the body. The website
goes on to describe some of the similar symptoms between related MPS conditions, and a vastly
shortened life span is one of those symptoms. Steve Staufers sister was also diagnosed with
Downs syndrome, a rare condition where the child receives half or partial copy of chromosome
21. Both of their immediate family members passed away due to their conditions in 2002, shortly
after they created the foundation.
Dayna Wright, is a newly qualified midwife currently working at Birmingham Womens
Hospital, and she is author of, Supporting Transitions to Parenthood: Bonding with
a Baby that has Downs Syndrome. Her article focuses on a personal experience with a patient,
Jodie, who was diagnosed antenatally with trisomy. Wright explains vital forms of bonding while
the child is in the whoom, and quickly after birth. Jodie was quickly transferred to a transitional
care ward because the doctors noticed she was hypothermic, and needed a skin to skin transplant
with her newly born baby. Wright states, Skin to skin is vital to aid bonding between woman
and baby especially in the first hour of life when infants naturally seek suckling. Through
vigorous scientific experiments and hypothesis, the several bonding acts she explains in this
article are proven to have substantial success in the babys developmental stage. If done properly,
the bond between the mother and the child can actually become much more significant, leading

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to a better life for both the mother and the child (Wright 2). Similarly to the Staufers, Jodie had
to gain confidence some how to raise a child with Downs syndrome, while coping with the
traumatic side effects that affect daily living. This is where the AHF is able to support families
dealing with similar issues in our local communities, as they provide confidence, care, and
sympathy for them. By covering medical expenses, expressing gratitude, giving first-hand
advice, providing educational support, and other means of beneficial support, they are able to
raise the quality of living for a respectable amount of people. The Equality Act, Disability
Discrimination Act, and Human Rights Act are all sections of our constitution dedicated to
preventing discrimination by making these disabilities more accepted by society (Wright 2).
With Acts being amended in our constitution it helps me to better understand the reality
of coping with a rare disease. To further understand what it is like dealing with MPS, H. Noh,
and J. I. Lee, both who have obtained a PhD, wrote, Current and potential therapeutic strategies
for mucopolysaccharidoses. In this article are some unique and innovating methods to provide
therapeutic strategies for those diagnosed with the various forms of MPS. Some of them as
described are enzyme replacement therapy, hematopoietic stem cell transplantation, substrate
reduction therapy and gene therapy. In each of these methods both human and animals studies
were involved to better understand the disease. All of the therapeutic strategies above cost a
fortune, and the results are still guaranteed to be fatal. This is one of the many reasons as to why
this disease affects people in our local community.
Now that we better understand what these families have to do in order to cope with a rare
disease, we can take a closer look at how their daily lives are impacted. Needham, Packman,
Rappoport, Quinn, Cordova, Macias, and Morgan composed, MPS II: Adaptive Behavior of

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Patients and Impact on the Family System. These researchers provide us with statistics given
different variable and analyses as to how the age of the patient can change different aspects of
dealing with the disease. Investigating the correlation of patient age within each severity group
(using Spearman correlations), we found a significant negative correlation between age and gross
motor skills within the mild MPS II group and a trend towards lower coping skills for older
children in the mild MPS group. They came to the conclusion that the older the patient gets,
their adaptive behavior function lowers.
As mentioned previously these diseases are rare, but they still impact a great amount of
people. Being diagnosed effects the patient, the family, and the health care employees providing
support to the patient, as well as friends of the family members. Here is a informative pie chart I
found on the World Health Organization's website that gives us a visual representation of
children with congenital defects in the neonatal process that suffered fatalities 2013.

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The Angels Hands foundation is doing a great deal of good for our community, and they
continue to expand their network of assistance. From my research I was able to gather
information dealing with the public policies surrounding these rare disease, how our local
community is affected from day-to-day living, and the beneficial support AHF continues to
provide. It is important we respect people who are diagnosed with such conditions, and that we
understand what they have to deal with to help us better sympathize with them as a society.
Because these people have to cope with something they have absolutely no control over certainly
does not mean they are any less unique, or important to our society. The medical field is
constantly evolving and finding new therapeutic strategies to better treat rare conditions, while
the government is making progressive steps towards educating the public on the personal impact
of families coping with different conditions. The possibilities are endless, and who knows,
maybe one day we will be able to genetically engineer the partial missing piece of chromosome
21, or conquer the neonatal birth defects before they develop.

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Works Cited
Needham, Mary; Packman, Wendy; Rappoport, Maxwell; Quinn, Natasha; Cordova, Matthew;
Macias, Sandra; Morgan, Cynthia; Packman, Seymour. MPS II: Adaptive Behavior of Patients
and Impact on the Family System...MucoPolySaccharidosis type II. 23.3 (2014): 330-338. Print.
<http://dx.doi.org.libprox1.slcc.edu/10.1007/s10897-013-9665-4 >
Noh, H, Lee, J. Current and Potential Therapeutic Strategies for Mucopolysaccharidoses. 39.3
(2014): 215-224. Print.
<http://dx.doi.org.libprox1.slcc.edu/10.1111/jcpt.12136 >
Lantos, John D. Dangerous and Expensive Screening And Treatment For Rare Childhood
Diseases: The Case of Krabbe Disease. 17.1 (2012): 15-18. Print.
< http://eds.a.ebscohost.com.libprox1.slcc.edu/eds/detail/detail?
vid=3&sid=5808ecc5-93c3-47ecafc4-89060fc7b700%40sessionmgr4003&hid=4203&bdata=JnNpdGU9ZWRzLWxpdmU
%3d#AN=73760417&db=pbh >
Dayna, Wright. "Supporting Transitions to Parenthood: Bonding with a Baby that has Downs
Syndrome. 147 (2015): 9-12. Print.
<http://eds.b.ebscohost.com.libprox1.slcc.edu/eds/pdfviewer/pdfviewer?
sid=dcd6c8ba-623e-4c24-9201-3c8a717e7142%40sessionmgr113&vid=6&hid=108
(Links to an external site.)
>
"Estimates for 20002013 Child Causes of Death." World Health Organization. WHO, Sept.
2014. Web. 10 Feb. 2016.
<http://www.who.int/healthinfo/global_burden_disease/estimates_child_cod_2013/en/>.