Research | Community | Cure
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).
This story is all about my son Jordan - we have nicknamed
him Pup. I want to share our story, I guess maybe it is Pup’s
story, but I am the one sharing and I feel that as we live each
day I am always editing and rewriting it.
He was born in 2001 - I didn’t have the easiest pregnancy
as I was put on bed rest at 30 weeks due to a partial
abruption of the placenta. He was born at 38 weeks as I was induced because of an amniotic fluid leak. He was small - under 6 pounds. I was told that had to do with the partial abruption of the placenta. What do I know - I had to go with it. I tried to breastfeed but Pup wouldn’t latch on - again, not a big surprise, his older brother wouldn’t latch either. He wouldn’t suck on a bottle either - kind of just let formula drip into his mouth. I mentioned it over and over again to the pediatrician but Pup was just labeled as failure to thrive. He never ate very much and really wasn’t gaining weight. I knew something wasn’t right but since I couldn’t figure out what was up I had nowhere to turn. This was just the beginning of more questions and not near enough answers.
I was finally told to talk to an endocrinologist to see what was up … what came out of that first meeting as that Pup had an undescended testicle - he asks “Didn’t the pediatrician mention this to you?” Should have been one of those hmmm moments. He was concerned about his growth but said he would see us every six months to monitor and we would take it from there. We did some blood tests and x-rays and off we went to a urologist.
Well, what can I say - now on the KGB checklist we are able to check off one of the characteristics. Only wish I had the list then.
The next item to be crossed off the list is feeding issues. I brought Pup to Children’s so that they can do a swallow test to make sure that everything is okay. I was told that he swallows just fine and that the real issue is sensory based. I was told I would need to find a feeding therapist. I looked at her like she was crazy. I had no idea how to even start - they were not helpful at all. One of the lessons that I learned from that experience was every time someone made a comment about the size of Pup, I filled them in on the whole story. I still do - the story has gotten longer so I feel bad for them, but maybe they can share something that may help me. I didn’t mean to get off topic, but I would tell everyone that he had sensory issues and wouldn’t eat - believe it or not, that is how I found our speech therapist. She was fantastic! Without her, Pup probably would still not be eating 13 years later. It was a long process but we followed her rules and played her game all the way through. He is still a picky eater but that is due to another genetic blessing that he was diagnosed with.
The sensory issues of course then lead to low tone, which then of course lead to speech issues. Oh look, another item to check off the KBG list.
Pup did speech therapy and feeding therapy for years. We taught him baby sign not knowing how long it would be until he would talk. It was kind of awkward when I sent him to preschool as he was nonverbal and we really only taught him enough to get his needs met. He is still not always easy to understand but I will get into more of that in a bit. He is in high school and still receives speech every week. We have gone in and out of private therapy - it all depends on what new issues arise. I think at this point that there is not a lot more than anyone can help him with.
Okay, back on track. We had early intervention do an evaluation on him. In the United States from birth to 3 years old you can get help and services and no cost if during the evaluation they deem it necessary. Well, they found Pup just a little behind other kids his age so he didn’t qualify for anything. If we wanted we could have gotten the feeding therapy through them, but there was a 6-month wait it receive services on a regular basis. Ain’t no one got time for that!
So, for a couple of years all we really dealt with were ear infections … oh, look! Another KBG moment! Pup had tube after tube inserted in his ears - regular ones and then he quickly moved on to permanent T tubes. He to this day, still gets frequent ear infections. Due to constant tubes, he developed a cholesteatoma that had to be surgically removed. He now only has 1 tube in one ear and a permanent hole in the other ear. We thought he lost his hearing due to all of the ear infections. Not so sure if it due to KBG Syndrome or all of the infections. Either way, he was unable to wear traditional hearing aids because of all of the ear infections. He now has BAHA’s - Bone Anchored Hearing Aids. They are pretty cool - he has metal implants and the aids attach to his head with magnets. Wouldn’t you know it, another characteristic of KBG to cross off.
When Pups older brother started kindergarten I was talking to another mom and she directed me to an occupational therapist. I have been so blessed with all of the specialists that have been recommended to me by others. It really paid off for me to share our problems. Pup worked with the OT for about 4 years - the length of time is foggy now. She was a great help with a number of problems that he had. His motor planning was lacking, actually non existent. It was painful for me to watch him - but she taught him how to do these things. It took awhile and a lot of hard work! She worked on his large and fine motor skills from completing obstacle courses to handwriting. The handwriting was the most fascinating to watch - a very different take for cursive then I had ever seen. He has the nicest cursive writing now.
Another KBG characteristic that we get to check off was his lazy eye. He started wearing glasses when he was about 4 years old. He had to patch his eye to strengthen the muscle. He wore glasses until he was almost 9 years old to correct it as much as possible. He is currently not wearing glasses but I am sure they will be in his future.
During this time, he also saw a reading specialist that worked with the Wilson Reading Program. She was also fantastic - he had trouble learning the alphabet - not only did she get him to know the alphabet - she got Pup to read. That was awesome! He did that for 2 years - we visited a few times a week until he started first grade.
All these specialists that Pup saw stopped privately for the most part when he entered first grade. He did attend preschool and went to kindergarten in a public school. I fought for an IEP immediately - it was such a nightmare! I was only able to get a 504 Plan in the beginning, but I decided at least it was something. He received OT and speech services, Pup struggled so much with school. He couldn’t remember the order of the letters, couldn’t remember their names, and couldn’t count to 20.
The red flags went up - as the first year of kindergarten was coming to close I chose to have him repeat kindergarten for another year. I blamed myself for him not learning. It never occurred to me that he had a real problem. I just kept pushing and finding him extra help. He would go from therapy to therapy, reading specialist to tutor. He never had the opportunity to just take a break. During the summer, I did have a psychoeducational evaluation completed. Well, there were all my answers…He has ADHD, learning disabilities, on the autism spectrum and social anxiety. Look at him - he is a KBG overachiever! We get to cross even more off that checklist!
Now, I get to really push for Pup to get a full IEP! It worked, he did get his IEP but they were really awful in the delivery of services. He didn’t really move forward and I was unable to give up anything that we were doing privately. We made it through the year and I brought him back for a small eval to see if any strides had been made. There was no gain educationally. I went into school a week before first grade was going to start to really push for more intense services. I spoke to the principal - she told me that was a good idea and that they would work with us. She lied.
I pulled him out of public school, hired a lawyer and enrolled him in a school that specialized in learning disabilities. Every child in that school was just like Pup! They all received services and were all just as socially awkward. It was the best 2 years - he entered as a first grader and left as a third grader. He was kept with his peers and because he repeated kindergarten he was the same age as them. The class was mixed - he was the only first grader and the rest were second graders. He did both years in the one. It worked out super.
As far as genetic testing, the way we got here is somewhat amusing to me. The pediatrician did a small genetic panel - it was a free promotion this company was doing with the focus being on Fragile X. A psychiatrist that Pup was seeing to help with the dosing of his ADHD medicine had us visit a geneticist at one of the local hospitals. All his tests came back normal. I gave up and decided that each thing wrong with Pup is what made Pup special to me. We went to see a dermatologist thinking he might have psoriasis but he wanted to talk more about Pup and all his “issues”. So glad that he did !! He took all sorts of pictures of Pup to present at a department head meeting and called within a week or two that all of the doctors said we needed to see just one more doctor. There was newer genetic testing that was available and possibly she would be able to help us, It took about 3 months to get in. Se talked to me and examined Pup. There was genetic testing through Gene DX that she wanted us to do. We made arrangements to come back with my husband and have our blood drawn. We waited about 4-5 months for the results. We are just the luckiest family - bonus - not only does my son have a mutation; so does my husband. They both have a variation on gene ANKRD11. They look alike but Pup presents more severely than my husband. There have been just a few more KBG moments as far as items to check off the list. He displays the typical facial characteristics - his facial features include eyes widely spaced that sometimes still cross or wander. Bushy eyebrows that become one. He does have large teeth and a small mouth. The doctors are always double-checking the curvature of the spine and has postural kyphosis. He sometimes complains about his hips and his knees.
Overall, I think that Pup could be a poster child for KBG Syndrome! I always wonder what will be next. It seems that everyone experiences these characteristics differently or not at all. Everyone one affected is going to present differently. I think that makes this genetic disease very difficult to follow and prepare for.
Diagnosed October 2014