Two young boys' journey with rare genetic disease

a Mattery couple says all they can do is live each day to the fullest after doctors tell them a rare genetic condition will rob their two young boys of their lives here's our special report keeping love alive 11-month-old yura sheramy is a beautiful blue-eyed baby boy full of life he is definitely the goofball who can stand and is on the cusp of walking we hopefully the see him walk for sure so we could at least get to see it for a little bit you know Alexi and Cruz sheramy say it may be one of the only times they'll see their little boy mobile standing on his own two feet we know what's going to happen in the end the parents say time is not on their side for Ura or their older son [Music] Kai he used to be able to crawl eat on his own he was standing up on his own preparing to walk and then suddenly stopped doing that a lot of doctors said this will pass you know it was uh so we didn't really think nothing of it when like the smaller symptoms started happening we just thought it was just just a little hiccups started with physical therapy Physical Therapy was like oh we'll have him walking in a moth he just has a little bit of ankle weakness at 18 months old he was uh at that point severely behind his peers and so we definitely could tell that at that point something uh was going on the sheramy say genetic testing proved what was behind Kai's weakness infantile neuro AAL distrophy or inad for short a rare genetic disorder of the body's nervous system the life expectancy is 5 to 10 years 3 2 1 the first year of his life you know uh you imagine this whole future and just in that moment everything is completely shattered inad is caused by defective genes passed on by both Mom and Dad Children's Hospital neurologist Dr an Tilton explains it's one that we call autosomal recessive which means both parents have to carry the Gene and then just in one in four chance this is what happens I was just in shock mostly uh it was hard to this process at all at the time it it it just sound like a like a echo in the distance when they was uh telling us axons are your nerves and they're the main part of your nerves and so what happens is this particular form is in young children and the nerve and the axon are affected preferentially and what happens is the the transportation I guess you could say of fats or lipids in our body is disrupted and because of that the nerves are affected it not only affects just those long nerves but also affects your cognition your thinking and development it starts with regression so whatever skills they do have at that time they slowly lose eventually you know no um no movement no physical movement loss of all mental abilities uh seizures blindness grappling with the thought of their firstborn dying before he becomes a teen the sher's attention then turned to their unborn at that time I was also 38 weeks pregnant with his brother Yura so we knew at that point that we might have two and so at we you know was just a very surreal experience when Euro was 2 weeks old the sheramy say he underw genetic testing doctors told them he too has the terminal disorder there's really no words to express uh how that feels every day you know it crosses your mind um and you think about it and you pray that there's a mistake Yura hasn't shown any symptoms yet but [Applause] Kai now requires round-the-clock care he can't talk sit up on his own stand or swallow and he's losing the ability to hold up his head the couple says Kai's in physical therapy and on lots of medication he has peripheral neuropathy uh which causes pain and tingling feelings in the hands and feet so he would scream 3 or 4 hours till he went to bed and he'd be up to like 3 or 4:00 in the morning I'm sure you wish you could take the pain away that it was you instead of him it always felt like that before we even knew what was going on you know we wish we could despite all Kai's personality still shines through he is still able to look at people and uh recognize them and smile Kai motivates his parents to keep going how happy gol lucky he can be really also inspires us you know if he can go through what he's going through like we got this there's no cure for inad and as far as treatment so what we really do is to give them most care and comfort and help the caregivers as well so that may involve uh everything from Mobility equipment to just discomfort and and other things that might make their care and the child's life more comfortable according to the inad Cure Foundation only about 150 kids worldwide are affected the cheramies say they've exhausted all of their tears questioning why them why their kids now they're taking a different approach we're not trying to be so emotional cuz we're trying to give them the best lives they can have and if we're sad all the time we can't give them the best you know they certainly have tough moments it obviously uh hits your heart a little bit you know seeing friends children doing what they'll never be able to but they're Resolute in their strength we just believe obviously that there's some um points in all of this you know I do 100% believe that we were made for them you know uh that we were meant to be their parents they cherish every single moment our outlook on life I think has definitely [Music] change and make as many memories as possible we definitely understand how every day is not promise they know it's a battle against time but right now Kai and Yura are surrounded by hope I know as their parents keep love [Music] alive the sheries are trying to raise money to buy a wheelchair accessible van to be able to take their boys to and from doctor's appointments they're also hoping that one day the inad Cure foundation will raise enough money for gene therapy which could help to alter the course of the disorder for information on how to help the family look for this story on our website fox8live.com heartbreaking story yes

Channel: Children's Hospital New Orleans

Views: 20,867

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Id: L1fwpYZJ1Jo

Length: 7min 50sec (470 seconds)

Published: Tue May 21 2024