Most of you already know that Amber was diagnosed with Kleefstra syndrome in October 2016. We are currently in Boston at our first Kleefstra conference sponsored by Genespark. Genespark is the only research organization looking for a drug treatment to improve the lives of those with Kleefstra.
Kleefstra is an extremely rare genetic disorder with only around 500 cases documented in the world. Kleefstra is the result of a gene mutation or deletion in the EHMT1 gene. For Amber, Kleefstra was caused by a single point mutation. A simple switch of a "C" to a "G" in one amino acid that resulted in a stop codon causing a catastrophic change to her genetic code.
Most of you know Amber as our happy girl that loves to dance, swim, read books and do puzzles. Amber also has many challenges. She has severe speech apraxia which makes her mostly non verbal so she uses an electronic communication device to speak for her. Amber does pretty well communicating her needs with this device, however Kleefstra does not stop with a speech impairment. Amber has an intellectual disability that makes it so everything she learns is a challenge. Her current reading /math skills are around the kindergarten to first grade level even though she will be going into 7th grade. Although Amber can write it is extremely slow and difficult for her to do so. Everything we take for granted and don't even think about she has to put 1000% effort into. Getting dressed is a 20 minute process. Toileting, bathing, and even brushing her hair are all things she needs help with. If we are lucky enough to live that long we will all have these challenges someday, but for Amber she has been challenged since before she even left the womb.
It took her almost 3 years with numerous hours of therapy just to be able to walk. Amber has obsessive interests that make it so that when she is stuck on a topic it is hard to get her to focus on anything else. She stims a lot! She is trying to feel the world through diminished senses from a nervous system that fails her. She rubs the pages on magazines, picks her skin, arm and leg hairs, flaps her wrists, pops her shoulders, flicks her ears and used to grind her teeth so much that her teeth are flat. The other side of her nervous system being under responsive is that in some cases it is over responsive.
Amber is extremely visual and geographically oriented. Everything must be in its proper place or it's a topic of preservation. I think the connection between what she sees or hears and her brain's interpretation is sometimes all mixed up. Today this was shown in the melt down she had over blueberries being on her waffles. They could not just be moved to the other side of her plate. She completely refused to eat until every single blueberry was not visible to her. I really do not know why other than to guess they look like bugs or poop. In the past she has kicked the crap out of her Dad over packing peanuts floating on the floor. She won't get on the bus if a fan is on or a vent is open. If the bus drivers coat isn't in the same position or if there is a different bus driver than normal these are major concerns for her that can result in a Garfield like refusal to get on the bus or 10 minutes of her perseverating and me trying to convince her that everything is OK.
Amber does not have seizures that we are aware of, but she does have abnormal brain waves. Seizures are always a concern for the future and simple illnesses like the flu can be fatal. Since Amber has been diagnosed with Kleefstra many children with this condition have passed from this world. My heart breaks for these kids and their families. I can't imagine the pain they go through and I hope we never have to. The reality is Amber having Kleefstra puts her at a higher risk for not living into old age. Making sure I take time to cherish her presence every single day is always in my mind. Besides the fact that we could lose her at any moment neurlogic regression is a major concern for her future. The loss of walking, the loss of speech, onset of seizures, sleeplessness and psychosis are experienced by many of those with Kleefstra in the late teen years.
For the first time tonight we met other children and adults with Kleefstra. It was a wonderful and emotional experience to finally meet the faces we have only seen on Facebook that truly share and understand this journey with us. Saturday is the technical part of the conference and the Genespark walk. We get to meet Dr. Kleefstra tommorow!!! When Amber was diagnosed in 2016 there was only her and 1 other in Illinois. Now I think there are 6 in Illinois and the number across the world keeps growing. We are asking our friends and family to donate to Genespark to help fund the dream of helping, not just Amber, but all of the children and adults with Kleefstra and all of the future babies yet to be diagnosed. There is no amount too small.