O'Donnell-Luria-Rodan Syndrome (KMT2E)
In support of
Jonah's Journey
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Jonah's Journey
After finding out that Jonah's genetic report came back with a positive report was hard. We were told by many they did not suspect to find anything and that they felt what he was dealing with was strictly due to the autism. We pursued the testing at the suggestion of a few of his therapist who see him daily and agreed this appeared to be more than autism. They were right.
This is condition is categorized as an "Ultra-Rare" genetic condition. There is only about 160 known cases as of right now.
This is a gene mutation that occurred spontaneously in utero. This means it was not inherited and I nor Casey are carriers, and that none of our kids have an increased risk of having this. That's a positive.
What this does mean for Jonah is that this effects the gene that correlates with the brain, heart and eyes. Most of the time this condition is accompanied by seizures which at the moment neurology does not feel like he is dealing with any currently based on his last evaluation but we must remain vigilant as they can start at any time. Prayerfully he remains seizure free.
This condition is largely associated with being nonverbal and not walking or walking extremely late, like upwards of 5 years old to start and later for full independent or unassisted walking. His extreme muscle weakness is all due to this condition. He fatigues quickly in therapies and has very little stamina to be upright and using his body strength.
This condition is associated with a varying degree of intellectual disability. Given his young age we do not yet know what that will look like.
This condition will play a role in Jonah's future should he ever have the opportunity to have children of his own. While this was not inherited, now that he has this, he has a 50/50 chance to pass it on to his kids.
Over the last few weeks I have been doing immense amounts if research on all the information that is out there.
I have even been in contact with the scientist who discovered this condition. Dr. O'Donnell. She is a geneticist and research scientist out of Boston Children's hospital. She is currently working in conjunction with Johns Hopkins to conduct a full clinical research study to publish the first paper on this condition. Jonah has joined that research study and his medical files will be used to help further the understanding of this condition. Of course insurance does not cover for us to see Dr. O'Donnell since she is out of network despite her and her team being the only ones in the US with the most knowledge and information on this. We do not yet know if meeting with her will be better done in person or virtually. There is pros and cons to both, but ultimately our goal is to get all our questions answered and have him evaluated by her to give us a better idea of the severity the condition is having on him as this is different for each person.
In the mean time we have been informed that he will need a highly intensive and individualized therapy regimen to progress in his development. Weekly therapy sessions will not be enough for him but will help maintain his abilities and support him for most of his life.
Unfortunately insurances do not cover these intensive therapies. They are out of state and there is only a few in the US that can offer the kind of intervention he needs.
We are working with CHOA to secure him a reverse walker but the places the order is being sent to is all saying they do not have any in stock. So we wait. The downside is Jonah needs one immediately. We may have to pay up front for one to make sure he gets it, rather than play the waiting game.
I will keep everyone updated as we progress.
Thank you for the love and support.
Above all else we ask for prayers. It's the most powerful tool we have.
-Sara
This is condition is categorized as an "Ultra-Rare" genetic condition. There is only about 160 known cases as of right now.
This is a gene mutation that occurred spontaneously in utero. This means it was not inherited and I nor Casey are carriers, and that none of our kids have an increased risk of having this. That's a positive.
What this does mean for Jonah is that this effects the gene that correlates with the brain, heart and eyes. Most of the time this condition is accompanied by seizures which at the moment neurology does not feel like he is dealing with any currently based on his last evaluation but we must remain vigilant as they can start at any time. Prayerfully he remains seizure free.
This condition is largely associated with being nonverbal and not walking or walking extremely late, like upwards of 5 years old to start and later for full independent or unassisted walking. His extreme muscle weakness is all due to this condition. He fatigues quickly in therapies and has very little stamina to be upright and using his body strength.
This condition is associated with a varying degree of intellectual disability. Given his young age we do not yet know what that will look like.
This condition will play a role in Jonah's future should he ever have the opportunity to have children of his own. While this was not inherited, now that he has this, he has a 50/50 chance to pass it on to his kids.
Over the last few weeks I have been doing immense amounts if research on all the information that is out there.
I have even been in contact with the scientist who discovered this condition. Dr. O'Donnell. She is a geneticist and research scientist out of Boston Children's hospital. She is currently working in conjunction with Johns Hopkins to conduct a full clinical research study to publish the first paper on this condition. Jonah has joined that research study and his medical files will be used to help further the understanding of this condition. Of course insurance does not cover for us to see Dr. O'Donnell since she is out of network despite her and her team being the only ones in the US with the most knowledge and information on this. We do not yet know if meeting with her will be better done in person or virtually. There is pros and cons to both, but ultimately our goal is to get all our questions answered and have him evaluated by her to give us a better idea of the severity the condition is having on him as this is different for each person.
In the mean time we have been informed that he will need a highly intensive and individualized therapy regimen to progress in his development. Weekly therapy sessions will not be enough for him but will help maintain his abilities and support him for most of his life.
Unfortunately insurances do not cover these intensive therapies. They are out of state and there is only a few in the US that can offer the kind of intervention he needs.
We are working with CHOA to secure him a reverse walker but the places the order is being sent to is all saying they do not have any in stock. So we wait. The downside is Jonah needs one immediately. We may have to pay up front for one to make sure he gets it, rather than play the waiting game.
I will keep everyone updated as we progress.
Thank you for the love and support.
Above all else we ask for prayers. It's the most powerful tool we have.
-Sara
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