05/01/2026
Kayleigh update Part 2:
Second set of Eyes Geneticist
Back in the beginning of February Kayleigh’s Geneticist that’s followed her since she was 2 years old referred us to a New Geneticist at Cincy that specializes in the rarest of rare.
Well that appointment was yesterday. In all honesty with how the appointment with Cleveland Clinic went I really thought this was going to a complete waste of time and gas. I mean this is a Dedicated Mito Team and they said we’ve done all the testing available- They should know right??
WRONG!!!
During the appointment in February with her primary geneticist, she also submitted for a re-analysis of Kayleigh’s Microarray that had originally been ran in 2017. 9 years ago Kayleigh’s Microarray was normal. NOW IT’S NOT!
So when we arrived we were greeted by a doctor with probably one of the best bedside manners I’ve seen in a long time. He was kind, very easy to talk to, extremely detail oriented, and explained everything in a way that I could best understand it (biology was NEVER my strong suit and I don’t think I’ll every truly understand Genetics).
That being said bear with me, because I promise he explained everything way better than I’m going to be able to.
So basically the Microarray that was normal in 2017 is no longer normal thanks to advancements in science and technology.
So on this re-analysis it showed Kayleigh has 2 separate duplications on the 12th chromosome. Although the genes that are duplicated in Kayleigh’s case are NOT known to cause disease. What they have discovered is that duplicated genes can disrupt the regulation and functionality of adjacent genes.
When they focused in on these adjacent genes he discovered a disease called GALNT9 which is actively being studied and is linked to symptoms that closely resemble what Kayleigh’s been facing.
GALNT9 is a BRAND NEW disease. It’s only been documented in Lab Mice thus far and “IF” Kayleigh were to test positive for this disease
She would be the FIRST HUMAN to be diagnosed with the disease.
Now considering the fact that no human has been diagnosed they really don’t have a lot of information and the symptoms they suspect are all based off other (more known) diseases in the same “family” as well as what symptoms the lab mice have displayed.
What they do know is GALNT9 causes abnormalities in O-GalNAc which is linked to disease such as Parkinson’s Disease and is similar in presentation and symptoms.
So the symptoms they’ve seen in the mice or documented in similar disease are:
1. Secondary Mitochondrial Disease
2. Mitochondrial changes in skin, muscles, liver, brain and other organs
3. Cognitive delays
4. Bouts of confusion
5. Excessive fatigue
6. Gross motor decline
7. Abnormal gait
8. Weight gain of difficulty loosing weight
9. Insulin resistance
10. Severe Liver Disease with changes in serum levels
11. Mood Changes
12. Anxiety
13. Respiratory issues
14. Increased prolactin
So looking at this list Kayleigh exhibits every single one of these symptoms.
So what does all this mean for Kayleigh?
It means this is a “POSSIBLE” diagnosis. {Kayleigh has NOT been diagnosed}
The hard part about all of this is the testing and diagnostic process is not simple. It’s not a simple blood test.
Testing for this disease requires:
1. Skin and Muscle Biopsy which needs to come from the side near the ribs
2. A Liver Biopsy
3. Either a Brain Biopsy or a Lumbar Puncture
All 3 of these must be done under anesthesia.
Now the Liver Biopsy was actually already discussed as a possibility in the near future with her new hepatologist (more on that on part 3 update)
The Skin and Muscle Biopsy would be a repeat. She actually had one back in 2017 which was actually the test that diagnosed her with Mitochondrial Myopathy back in 2018. So the Liver and sink and muscle biopsies are a little simpler.
The lumbar puncture or Brain Biopsy on the other hand is a little more complicated. Either test will give us the same answers. So we are absolutely under NO circumstances going to biopsy her brain. If we decide to move forward with testing it would be using the lumbar puncture. But for Kayleigh a lumbar puncture comes with a lot of risk too (just not as many as the brain biopsy).
So before we make any decision her Genetics team will discuss options amongst each other and loop in her Primary care, Hematologist as well as her neurosurgeon.
Things are further complicated because of the fact that this condition is in the beginning stages of discovery which means the testing is also new. Which leaves a large margin for error. This early in the stages it’s very possible that the tests could be a false negative and an equal chance it could be a false positive and that brings of the question “does the risks out weigh the benefits”
Now as if all that isn’t complicated enough we also have to take into consideration that “IF” she does test positive all it does is give us a diagnosis. GALNT9 is a Neuro degenerative disease which does not yet have a cure or treatment options.
The only thing it would provide us is a name, a rough prognosis, possibly open the door to research treatments options and/or compassionate use access to drugs that are FDA approved for similar conditions in the same “family”. While that doesn’t seem like a huge benefit for where Kayleigh’s at right now specifically with her Liver as well as some of her other symptoms just the access to compassionate use drugs and or trials could be a huge game changer for Kayleigh.
In addition to all this the UDN is ordering a Long Read Sequencing (I’ve attached a bit explanation photo below).
As well as the possibility of a somatic genome/mitome if or when we decide to move forward with the Liver biopsy.
So there’s a lot both in the works and up in the air. I’ll keep everyone posted as plans evolve.
