Welcome

MESSAGE FROM PRESIDENT & FOUNDER

When my daughters were diagnosed with DOCK8 in 2009, no materials were available to patients
and families. My vision, Kelsey's vision, was to help others with this disease through connection
and research. As more patients are diagnosed with this disease; more can be accomplished. We must
connect together to provide researchers access to ourselves and our loved ones.

My experience with finding a diagnosis may be similar to yours. You go to your primary doctor who may treat the symptoms or refer you to an immunologist/allergist, dermatologist, or even an Ear, Nose, Throat specialist. They are thinking "horses". As the Immune Deficiency Foundation likes to say, "In medical school, many doctors learn the saying, 'when you hear hoof beats, think horses, not zebras' and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. Patients with primary immunodeficiency diseases are the zebras of the medical world.” Most healthcare providers have never heard of DOCK8 and have no idea what can or should be done. Perhaps one of the hardest realizations is not knowing what this means to you or your loved one. This disease can vary from mild to severe or even fatal problems.

Living with this disease can make you hyper-vigilant. It can steal your joy and especially your peace of mind, but choose to cherish all the moments. I would like to say that it gets easier, and in some ways it does...like having a diagnosis. Eventually you start to come know your loved one and what is normal for THEM. You will adjust to the situation, but that doesn’t make it easy. There will be good days and bad days, and so we learn to treasure every moment. Finding thankfulness in ALL the moments is helpful for me. This is a difficult situation at best, but experiencing unconditional love and joy is incredible. We truly understand what it means to not take a single moment, a single smile, a giggle, one bite of food, or a single step for granted. The things ordinary people take for granted every day like seeing your child get up in the morning, or being able to eat and go to school, these can be so difficult, yet we rejoice when they are able! Our picture for ourselves and our children is not the one we thought we might have painted, but it is it’s own beautiful original masterpiece. Unique and beautiful!

I have found it reassuring to find others who are in this battle. If you are at all like we are, we struggle to find those who truly understand, those who are “walking the same path”. When you are dealing with something so unknown, often it will turn out that the closest you can get to one-on-one discussions with another person dealing with this disease is e-mail or a phone call. Hopefully, we can change that one day. But for now, please know that there are many of us here and we care. We GET it! And we will be here for you in ways that perhaps most of the people you know, can’t be. We met Cameron, a 10-yr. old DOCK8 patient, last year. He formed a bond with Karly, because they share this disease. Knowing that she has not found a match, compelled him to hold a Be The Match donor drive in his area. Cameron has since passed on and is doing his “Truffle-Shuffle” in heaven. His family is holding the donor drive for Karly in February 2013. It is in these ways that we can help each other. I hope that you will be a part of this site by registering your information and becoming part of the family. Thank you from one mom to another!

Tammy Koch

MISSION STATEMENT

Our mission is to gather and provide information, to promote awareness and research, and to provide
support to our members.

“Dance as though no one is watching you, love as though you have never been hurt before, sing as
though no one can hear you, live as though heaven is on earth.” Souza

MEDICAL ADVISORY BOARD

Alexandra F. Freeman, MD, National Institutes of Health, National Institute of Allergy and Infectious
Diseases, Bethesda, MD

Dr. Alexandra Freeman joined the Laboratory of Clinical Infectious Diseases at NIAID, NIH in
2005 as a staff clinician focusing on Hyper IgE syndromes and other primary immunodeficiencies,
such as DOCK8. Her research focuses on defining the clinical phenotypes of these disorders as well
as providing a clinical link to basic research programs focused on vascular remodeling and wound
healing, and infection susceptibility. She has multiple collaborations both with different institutes
at NIH and in extramural laboratories. Her research group has been published in The New England
Journal of Medicine, Nature, and other prestigious journals. Dr. Freeman completed medical school
at Georgetown University, her pediatric training at Yale-New Haven Children’s Hospital and her
pediatric infectious disease fellowship at Children’s Memorial Hospital, Northwestern University.

Victoria L. Anderson, RN, MSN, CRNP

Obtained her BSN at Towson University in 1987.
Commissioned in the US Public Health Service in May 1992, and trained at the Uniformed Services University of the Health Sciences from 1993 to 1995 obtaining her Masters degree in Nursing and Certification as a Family Nurse Practitoner.
Practiced in the Laboratory of Host Defenses and Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda Maryland 1995 to 2010 primarily managing children and adults with  primary immunodeficiencies including Jobs syndrome. Concluded her USPHS tenure at the Food and Drug Administration, reviewing applications for new Vaccines, at the Center for Biologics, Division of Vacccines and Associated Products.  Retired from the US Public Health Service September 2011, and now a full time Mom to Ashley and Josh, and a Special Volunteer for the Laboratory of Clinical Infectious Diseases.
 

 

 

Below is a link to the Be the Match Memorial for Kelsey Koch. (on the left)

http://www.bethematchfoundation.org/site/TR?pxfid=12682&pg=fund&fr_id=1760

Below is a link to Ball Bearings, a local magazine, that has featured Kelsey and Karly's stories.

Here is a link to Karly's story: http://ballbearingsmag.com/story.php?id=1957
Here is a link to Kelsey's story: http://ballbearingsmag.com/story.php?id=1413