Everyone has a story to tell, here's some of ours. Whether diagnosed early or diagnosed decades later, each KBG story is as unique as their fingerprints (yes, we do have fingerprints).
Diagnosed Jan 2016
From the start of the pregnancy, for me it was not an easy
one, many problems I encountered: constant nausea,
constant bleeding, labor pains, which meant many times to
the hospital and I was hooked up to a magnesium pump
twice, also had a ￼terbutaline pump and on bed rest for
7 weeks. I was seeing a high risk pregnancy doctor and at
one of the visits, an ultrasound was done to collect the
measurements of Rylee’s head; they wanted to do an
amniocentesis to check for Down Syndrome. It came back
negative but they told me that they can’t guarantee that
everything was fine. That’s also when we found out that we
were having a girl.
Rylee at birth also had problems: born early, head and face
swollen, bruised and jaundiced.
As a mother, we know that something is not right, her overall
development was not on progress and even her features,
she looked different.
We have seen every specialist under the sun, you name it we have been there and done it. GI, cardiologists, orthopedic, ENT, Neurologist, Neurosurgeon, Genetic, psychiatrist, ￼psychologist,￼￼￼ neuropsychologist, ophthalmologist, general surgeon, and Child development specialist.
￼￼Our child developmental￼ specialist stated that her facial features were different. It really bothered me, I was offended. Deep down I knew something was wrong. You still don’t want to hear that there is something wrong with your child.
Rylee’s development was so behind in everything including feeding, rolling, sitting, crawling, walking, and talking.
Rylee had many genetic tests done through the years and nothing at that time had come back abnormal until she was 6 years old where she had another genetic test performed called 'whole exome sequencing'. Our final results were KBG syndrome.
We finally had an answer; we could get the help she needed. Then we find out it’s a very rare genetic disorder that no doctor has really heard about it. So many mixed emotions, upset and mad, why did this happen? (Lance and I are not carriers) Happy that we finally knew and so disappointed that no doctor really knows about the syndrome. Right now, we just treat the symptoms that arise.
Rylee still does not talk in complete sentences, or pronounce words correctly, she cannot read, cannot do math, and has many, many behavioral problems. She still has problems brushing her teeth, using the restroom, getting dressed and eating. ￼Even though Rylee is 12 years old, Lance and I are still taking care of her, which feels like ‘a forever toddler. I’m sure everyone remembers the terrible twos, that’s what we still have with Rylee at times.
Sorry if this seems all negative. There are times when Rylee can be so sweet, loving, able to listen and there are those a-ha moments where you think okay she is finally getting better. There was a time when I thought she would never walk, or talk, know her alphabet, or know the sounds of letters. All of these she can do now.
I guess, our journey is still ongoing. We are both afraid of the future for Rylee. That’s why Lance and I are trying to raise awareness of KBG Syndrome. Our main goal right now is to receive funding in order to continue with more research and testing. Hopefully, this will lead to more scientific knowledge available to doctors about KBG, and can hopefully get us one step further to spreading the word of KBG Syndrome and finding a cure.