Saturday, August 15, 2015

August Spotlight - KBG Testing





To say our world is evolving and in a constant state of flux would be a fair and yet, gentile statement. Reality is: we are learning so much more about our son's condition and new diagnosis we hardly have the chance to blink for fear we will miss something.

After 9 years of no tangible diagnosis, only broad descriptive and disappointingly vague terms that no one in a business world would accept as factual and actionable, we got the first really big break. His previous diagnoses include: generalized seizure disorder, autism, intractable epilepsy, idiopathic epilepsy, cyclic vomiting syndrome, anisocoria and then...a clue. When he finally had a lumbar puncture, after three years of asking for one, and got a clean cerebral spinal fluid sample, we found he had low levels of 5-MTH. 5-MTH is a major neurotransmitter and key to many fluid functions ofthe brain. That led to another finding: Folate Reductase Autoantibody. Turns out, the Folate Reductase Autoantibody is found in up to 70% of people with Autism. A shocking number for a non-standard test. We thought this was all we would know and we resigned ourselves to working within these two diagnosis.  But then we were blessed to be offered whole exome testing. It was an exciting time and we waited somewhat patiently forever. When we got the results, they revealed the newest and most basic of dragons to slay: KBG Syndrome.

It turns out that our son is only one of 65 known patients in the world. And of those 65 he is the ONLY one with an insertion in the gene and not a deletion or duplication. True to form, we looked for information, support, advocacy and treatment protocols. We found nothing of note. Nothing organized. We also disappointingly learned that KBG is treated symptom by symptom.

What does that mean? The bottom line is we are in for more of the same, more of what we are already doing,treating his seizures and anything else that creeps up. So, we have an answer but it seems the questions are randomly changing.

The medical world knows so much about KBG; the first written literature is over 40 years old. In that time, mice with KBG have been developed, antibody testing for KBG syndrome has been created and yet, it took us 9 years and a lot of heartache to find it. Why is that?

Because there is no real awareness about KBG, it is not a standard test, and there is no one organizing the patients and acting as a catalyst for sharing research information. Our history with struggling for answers led us to immediately declare that we would create an organization to help those known patients of KBG and the countless unknown. We are actively looking for patients and their families so we can better treat the Syndrome and more effectively improve quality of life. We know that there are many undiagnosed patients. Patients who want to put a name to the very recognizable face of KBG Syndrome. All KBG carriers and patients have facial features that are similar: large teeth, bushy eyebrows, slightly wide-set eyes and short neck. They are all short of stature and most often present with Autism as a first diagnosis as well as global developmental delay and cognitive deficiencies. A large number of patients have orthopedic issues including extra or missing set of ribs, hip dysplasia, scoliosis, short curved pinkies among other things.

KBG, for us, is still so new and so difficult to say out loud. It's surreal that we have a definitive direction with no real destination. We are missing the destination of this journey because no one is actively working on the cure. A cure, which could be as simple as replacing a missing protein, or as complicated as gene therapy. But until we identify more patients, we don't know which direction is the right direction to take.  So close, and yet…so very far to go.

The KBG Foundation is focused on identifying and unifying the patient population, providing support, awareness and advocacy as well as eventually helping to fund a cure. There is always a destination, sometimes you just need to load the bus and get on the road.

Annette Maughan

CEO/President

Epilepsy Association of Utah

(801)566-5949

annette@epilepsyut.org

Saturday, August 1, 2015

Meet Emma - Our August Kid of the Month

Emma was diagnosed with Lissencephaly at 5 days old after having at least 21 seizures the day before. Lissencephaly is a rare genetic brain disorder, 1 in 100,000.
Children with Lissencephaly, which is also referred to as smooth brain, will experience significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation. Respiratory problems can also lead to a shortened life expectancy.
Affected children display severe psychomotor retardation, failure to thrive, seizures, muscle spasticity or hypotonia. Other symptoms may include unusual facial appearance, difficulty swallowing, and anomalies of the hands, fingers, or toes.
"Embrace Life" every second you can.
Here is a link to her blog and Facebook page.