Las Vegas baby diagnosed with rare genetic mutation

Las Vegas baby diagnosed with rare genetic mutation
www.fox5vegas.com/2022/08/09/...

[@runninggreywolf8313]

Moms always know when something is wrong with their baby. Hugs and prayers to the family.

[@Stepharoni_and_Clean]

Someone I went to school with just found out their 4 year old has a brain tumor its so sad and makes my anxiety shoot through the roof since I have a 2 year old. He was having trouble with feeding himself is how they noticed something was wrong.

[@GameChanger597]

Really wish these doctors would just admit when they don't know what's wrong instead of just saying there is nothing wrong.

[@livyann2143]

Happened to me/my mom too. I have a different mutation (POLG) causing mitochondrial disease (the blanket name for these different mutations and disorders). She always knew something was off and all the doctors dismissed her and treated the symptoms sometimes. I only got my tentative diagnosis at 16 and official clinical diagnosis at 19, and now a genetic confirmation at 21. It's a miracle I'm still alive, the average life expectancy for someone with my mutation is two years old. Right now I'm faced with a terminal illness that barely anyone knows about. My heart hurts for this family, especially as it seems they will have less time with their Angel than my family will.

[@runninggreywolf8313]

@@livyann2143 God bless you. You've made it this far for a reason. You have a purpose. My wish for you is a long healthy life. 💜💜💜📿📿📿

[@thesilentone4024]

Was in car crash 6 drs missed my pelvis was broken it was hell getting any dr in America to take anyone seriously.

[@francheskaaviles7100]

Something similar to this happened to my baby back in 2010 when he was 11 months old... He was a very energetic baby and after he could already walk and talk, one day suddenly, he began to regress... He didn't have any energy, he couldn't even sit or even crawl, after he was already walking; or eat any solids... It's literally as if he regressed to being a newborn again and could barely hold his little head up... The pediatricians ran multiple tests and kept telling me that everything was ok, but I knew something was wrong... One good doctor recommended us to an Endocrinologist, who then found out it was something that had to do with brain and thyroid and recommended my son to take thyroid medication, at just 11 months old... Synthroid to be precise (I think that's the right spelling)... My baby got better and today, he's a healthy 12 almost Teenager and I'm grateful it was caught on time... I hope that this beautiful baby can heal and I wish the best to this family!

[@tippiegirl2435]

Praying someone who knows them reads your comment and let's them know about this life saving remedy ❤🙏❤

[@tatis6109]

Vaccines probably have you thought about that?

[@bellrivera192]

My sister was born without thyroids I remember my dad always taking her to c.c she takes medication everyday she is 33 and a mother of 3 💜

[@goomba8170]

@@tatis6109 Okay grandma it’s time for bed lol get off the internet

[@jenmarks6594]

Isla is beautiful. I hope she gets a miracle.

[@nicoletambasco9210]

“Team of doctors” “LV Community supporting them” warms my heart.

[@Bettinasisrg]

Typical bad doctors! My 17 year old daughter was in extreme abdominal pain and went to ER, they did blood tests and reflex tests and many more including a pelvic exam and didn't treat her pain until she was screaming, basically treating her like a drug addict for no reason. They were going to send us home until I said not until I get an answer. It was ME that asked about appendicitis and the nurse actually said "why didn't you say that"?! Like it's my responsibility to diagnose her? They finally (5 hours later) did a cat scan and immediately got her into surgery where her appendix burst in the surgeons hand! Not to mention what they're doing to chronic pain patients now?! I hope for the best for this family and can't imagine what they're going through!

[@organicinohio5398]

We had a family friend being treated for pneumonia instead of appendicitis that he died from. Needless to say, his wife sued the hospital. Doctors are not gods…

[@createinmeacleanheartohgod6871]

Yeah, as if they're considering opiod pills as cure-all drug. I understand that ER is just like a lay-over of what's ahead, but what happens now is it becomes a "dead end" of the journey, wouldn't even explore anymore to what could be a serious issue.

[@Rachel-wn8xi]

I am so sorry that that happened to your daughter and your family that is horrific, doctors really do need to learn more about bedside manner and really listening to the patients because they aren’t in our bodies to feel things with us, as someone who has some health issues of my own I personally really want to thank you for fighting for your daughter, I know that she appreciates it too❤️ sending you love and light😊

[@freedomfreedom9523]

They do that to everyone act like your a drug addict then throw you out they are sick some are like icebergs and incompetent

[@Kennedy4OurCountry]

God they're such idiots!!! Cannot trust em anymore. All the GREAT nurses & drs left so they wouldn't be forced to take the poison.

[@charliesalazar8010]

Awww poor baby she's so beautiful I hope and pray she grows stronger 🙏

[@kristilicea1472]

@Meghan M. actually there's no debt primary children's hospital is a non-profit hospital so they won't be charged for her care here

[@LaurenWoz421]

@Meghan M. ? Well What’s the other option? She isn’t an animal and can’t be put down. The mother herself said “(the vitamins) are just to keep her comfortable and maybe give her a little energy”. She will pass from this, it will continue to get worse as the story said.

[@Chopperdoll]

My heart breaks for this little girl. God Bless her and the family.

[@retzerclan4345]

The rareness of Isla's condition makes me think of my (almost) 11 year old son. He has a mutation on the BRPF-1 gene; he's 1 of approximately 20 known cases. Unlike her though, his does not appear to be life-threatening. Prayers lifted for this family to find peace no matter what the end result, and for medical professionals to find the best care possible for this beautiful little girl!

[@keana1057]

Wow that’s amazing. I’m a second year biochemistry student and my school has been focused on studying the BRPF-1 gene and its possible mutations. They use it as an example of rarity and complexity. I hope your son is able to live a great healthy life and scientists can find more answers and treatments soon. I am so fascinated by these rarities and hope to pursue studying them in the future to help people (especially children 🥺) who are suffering so badly. Stay strong 💛💛

[@retzerclan4345]

@@keana1057 that's awesome! I try to post about him in circumstances like this just to help bring awareness of it, but you're the first one that seems to have ever even heard of the gene much less the mutation on it! Out of the symptoms (if that's the right word) that we know of (developmental / intellectual delays, coloboma, spine issues, and seizures), he has been tested for all and only has the coloboma (which is not severe) and delays. May I ask if you know of any other "symptoms"?

[@keana1057]

@@retzerclan4345 That's amazing that you are bringing awareness! I'm so glad that I am able to understand it a bit to help spread the word as well. Yes, symptoms is the right word :) I know that these can result in different effects depending on the type of mutation (missense, nonsense, or frameshift mutations), but from what I have gathered, most of the detrimental side effects are caused from a mix of all three mutations occurring simultaneously. Most individuals will only have one of the 3 mutations (since having even one of these mutations is extremely rare in the first place) thus result in lesser symptoms like congenital hypotonia or intellectual/developmental abnormalities that can be corrected over time. However, of course, this varies on person to person and is hard to predict since it's something that is still being studied and new to many doctors/scientists. I think it is definitely a great sign that your son is only experiencing a couple symptoms, since this could mean he has fewer (or one) mutation as opposed to all three. But, of course I am still a student and could not properly determine this myself without genetic testing and whatnot, but I hope the best for him! I'm really passionate about researching these rare genetic disorders and so glad you've told me more. Thank you!

[@sandrapg88]

@@keana1057my little girl is 12 with Angelman syndrome (UPD) and Trisomy-X. This stuff is sad and fascinating at same time

[@keana1057]

@@sandrapg88 wow both of those?! I’m so sorry, I can’t imagine how challenging that is for her and you as a parent. It’s incredibly fascinating from a scientific perspective but I have so much empathy too for everyone who’s affected.

[@glam_goth6662]

Prayers to you and your beautiful family.

[@nicolehall2177]

😫🙏🏼Stay strong Mom and Dad.

[@madisonmakeupxo]

I just had my beautiful son 5 months ago and after spending one month in the NICU and getting a G-tube (stomach tube) placed, we discovered he also has an extremely rare genetic mutation that causes a very rare neuromuscular disorder, less than 500 cases have ever reporter and many less with his specific gene mutation! He is amazing and your sweet baby will be okay too!❤️

[@carrieanncancino5118]

Praying for Isla and your baby be to oo🙏✝️❤️

[@Kayla-mr1kp]

By the grace of God I pray she will overcome this. I’ve been waiting ten years, trying to go to Mayo Clinic Az to get a diagnosis but NV Medicaid is not accepted. Las Vegas needs better medical care!

[@apontemadeline140]

Stay strong I know that this is devastating and May the good lord bless you and your family.

[@tahjjj1488]

Amen.

[@marycunningham1367]

My daughter had the same FDXR mutation she recently passed away at two years old if you have any questions you can ask me I went through exactly what you’re going through right now

[@silentlyspoken1727]

I hope she sees your comment and reaches out. Condolences to you.

[@marycunningham1367]

@@silentlyspoken1727 I hope so too… What our babies have is so rare but literally we’re in the same state! I would love to answer any questions for them, to give this family comfort.❤️

[@Ruby-qb4dd]

My sincere condolences 💐

[@1219monique]

My condolences to you and your family.

[@livyann2143]

I myself have another mutation causing mitochondrial disease (POLG) and currently on palliative care transitioning into hospice. I'm sorry to hear your loss, there's another mito angel in heaven. I just want to send you lots of love and let you know, there's so many other mito warriors/Mama's who are going to be there for you. Your baby girl will be looking out for you. I lost a friend and gained an angel when my friend died from a POLG mutation earlier this year.

[@2_blAck]

Omg my heart goes out to you and your family. God bless this family🙏🏽🙏🏽🙏🏽

[@NOTIME4THIS]

Praying for her healing ❤️‍🩹

[@marialuna0325]

Mama knows when her baby isn’t feeling good they should trust us more Aww hope she feels better soon keeping you all in my prayers

[@PcfulSol]

I will never understand how a doctor goes to school for so long and say she is fine and send them home. If you can't find anything, keep trying, no? Good grief

[@breezeh1127]

There are just too many things that can be wrong with a person They can't know all of them. They often look for the most known or common reason for symptoms and when that doesn't show anything, they usually let them go. It is super rare to find things like this, so they just don't have the education or expertise to find it. In saying this form the background of having 5 very rare children who al ha e mutations that don't even have a name yet and being referred to the Undiagnosed Diseases Network through NIH and Harvard to find out what thy want to call what my kids have.and why they have it.

[@ritabroils6190]

Much love and prayers to the entire family in light to this rare condition. 🙏🏾😃❤ Hopefully the four of you will be able to travel home soon.✈

[@desertfoxdesertfox8726]

You have a beautiful baby girl and a beautiful family. I am praying that your baby girl diagnosis becomes better as time goes on. I hope the doctors will find something that can help her body become stronger and healthier. Bless you and your beautiful family. Keep moving forward.💕💕🙏🙏🥰🥰

[@chronicallydead]

I don't have the same health problems but since I was born my parents kept telling doctors that something was wrong and they'd always say it was either colic or simple virus. Found out when I turned 19 I have a birth defect called pancreas divisum, I also have sphincter of oddi dysfunction(from gallbladder removal) and chronic pancreatitis from the pancreas divisum and sphincter of oddi dysfunction not being diagnosed soon enough. I also cannot eat,so I have a gj feeding tube, my stomach doesn't function at all (Gastroparisis) so everything goes to my intestines (the J part of the tube). It's sad this little girl suffered for so long and doctors just kept saying it's fine,she'll be ok. I'm 28, and have failing organs and kidneys that barely function thanks to doctors like that.

[@sandrachank6982]

Blessing and healing on you. Hard to blame doctors. They depended on the results of tests. ...that said normal. I hope God touches you and returns your body to perfect function.

[@hdskl2150]

I’m so sorry that happened to you

[@chab1rd155]

God bless you hunny! I'm sorry to hear all of that! Stay strong. God has you here for a reason! Hugs to you.

[@momofschnauzers]

Why are there so many babies being born with cancer and life threatening health issues? Hope this family is blessed with a miracle for little Isla.

[@michelletrujillo670]

May God put his healing hands on this sweet baby .💜

[@deborahbaker4770]

Awww poor baby I hope she can go home soon you all are in my prayer’s 🙏🏻🙏🏻🙏🏻

[@TheEternalTaoist]

Hoping for a miracle for this sweet baby 🙏🏼

[@mc90009]

May God bless you and your family, Praying for Baby ILA.

[@ItsMeKelso]

That’s terrible that the ER and the doctor missed the fact that that baby had sepsis! Good thing the baby didn’t die!!!!!! Glad that they got an answer as to what’s going on when it comes to her rare disease

[@user-uv7pe6yr5f]

Sending so much love their way and a full recovery and want the best for this family !

[@carylosborn1808]

Poor sweet baby

[@lionentertainment7240]

🙏🏽 PRAYERS for her and her family 🙏🏽 MAY GOD HEAL THIS BABY AND HAVE A QUICK RECOVERY AMEN🙏🏽

[@terripebsworth9623]

HBOT therapy is really helping people with damage to their mitichondria's energy production mechanism (from the mRNA injections). HBOT (hyperbaric chamber oxygen therapy)

[@beverlybalius9303]

Just what I thought and these news people don’t even ask the Mother if she had vaccines shots.

[@jesusiscomingsoon879]

@@beverlybalius9303 💯

[@shawntea422]

Praying for your baby and family. I can’t even imagine what your going through.

[@Jaymeeee]

Praying for this little babe and her family ❤️ sending all my love ❤️❤️❤️❤️❤️

[@sew161]

I live not far from Las Vegas and have Autoimmune including Chronic fatigue. My heart goes out to this family.

[@Anelly_Jacob]

Prayers go out to you baby girl❤️

[@naomibeery8098]

This just makes me greatful for the times we live in. In the past, those parents would get no help or answers.

[@onlyinvegaschinasfight]

Praying for you 🙏🙏🙏🙏🙏 an family

[@sheilad7324]

🙏🏽

[@b.schannell747]

Bless you lil baby and parents 🙏🏾🙏🏾🙏🏾

[@elizabethseals2001]

That is heartbreaking. What a beautiful baby.

[@Clydekid]

Always trust your gut. Stay strong you guys!

[@ceoscrilla_maduke4846]

Bless her ❤ praying for a speedy recovery praying for the 👪 as well🙏🏾🙏🏾🙏🏾💕💕

[@joroglitches2859]

Prayers she gets better! good luck and stay strong guys!

[@dianethomas7149]

Prayers little darling!

[@maddieadams75]

Prayers for strength and peace of mind. 🙏♥️ Primary Children hospital in Salt Lake City Utah, is top notch. I started my nursing career in Salt Lake City.

[@sandrachank6982]

God bless and miraculously heal this child. Give her parents courage and comfort them all. Lord, have mercy and make this baby whole...in Jesus name, I pray. Amen.

[@chelsealavy6299]

Sending prayers an hope to your family and beautiful baby girl!!!! I pray everything will somehow be ok 💕💕💕💕💕💕💕💕💕💕💕💕

[@rossmontreal4570]

My heart ❤️ goes out to you the family! 🙏🏼🙏🏼🙏🏼🙏🏼🙏🏼 god bless and hope she comes out of this stronger than ever!! 💚💚💚🇨🇦

[@ToshaRaeNailed]

How a doctor can send someone home when it’s obvious something is wrong…. Should have their license stripped away

[@jrbland18]

SENDING PRAYERS TO THIS FAMILY AND CHILD. SHE IS PRECIOUS AND STILL A CHILD OF GOD.

[@louettesommers8594]

Absolutely heartbreaking. Praying for this precious baby and her family.

[@myidentityisinjesus8880]

It's terrible when docs don't take a person seriously and keep sending you home!

[@dinahk4873]

Prayers for this angel ...and family

[@chab1rd155]

Prayers for your sweet little angel baby! Stay strong. Gods blessings! 🎚🙏🕯💞

[@monicaw5036]

Sending prayers to the family. That has got to be so hard. 🙏🏼❤️

[@kimwhitson7035]

Praying for this Family

[@danasmith6043]

Bless the baby.

[@anntrope491]

♡☆♡ BLESSINGS ON THIS baby, & FAMILY...PLEASE GIVE THEM THE HELP THEY NEED...♡☆♡

[@albertocampos4857]

Very strong parents. Sending prayers.

[@nicolejohnston8597]

So sad! I hope the family can find all the support in their time of need, and I hope baby Isla is as comfortable as can be right now… such a scary situation to be in

[@allaboutmycats454]

Prayers for healing!

[@catherinemtc7795]

She’s soo pretty. GOD BLESS ALL OF YOU.

[@debishaw9355]

Sweet Ila, my prayers are for God’s will for you and your sweet family.

[@joannamarin]

Prayers to this family ❤️

[@lizpurr8402]

Was the child jabbed with the Covid shots?

[@EyeOvdaTiger]

Heartbreaking 😭 Praying for this poor little girl and her family.

[@Pattim4762]

GOD BLESS your baby !!

[@BrandonCiCi]

Poor beautiful baby girl ❤️🙏

[@austinrichards6687]

I’m so sorry this is going on prayers are being sent your way

[@Sssssssslf]

What a _cute_ baby praying for her 🙏🏼

[@jamesstewart3088]

Prayers your way

[@exquisitekind8055]

Prayers🙏👶

[@eldorajohnson3894]

Prayers to the family.

[@lenedomi111]

My daughter was born with a genetic mutation missing the gene 7 God bless her she’s beautiful 😍🙏🏽

[@signsfrombeyond4863]

May God protect and bless your beautiful family.

[@ladybug3380]

A lot of doctors don’t know wtf they’re doing.

[@bridgetamato6182]

God Bless this baby and family

[@lucindathomas1016]

May god bless your sweet baby girl Stay strong mom and dad

[@Ky-xn8ud]

Prayers! I cannot imagine!

[@boots1166]

Godbless you baby 🙏

[@kandilandon9881]

Sending prayers for your family

[@ServiceDogRosie]

I have mitochondrial disease, mngie and leigh syndrome.. prayers going out

[@edithkinsey7031]

So sorry for this sadness of ill beautiful baby girl

[@sheilarobbins2604]

Sending prayers 🙏🙏🙏!

[@thess9470]

Prayers for ur beautiful bbygirl 🙏 💕. My baby been getting so many seizures every 2 weeks since May all her test come out normal. Taking her somewhere else now

[@trixietrog]

Omg such a beautiful baby god bless this family. ♡♡♡♡

[@ELEVOPR]

Only 39k raised so far, Yes a homeless man gets half a million because people feel sorry for him. WOW, Just Wow.

[@beamimibee]

🙏my prayers are with you xxx God bless this child and her family

[@tvviewer4500]

Magnesium oxide, calcium carbonate. You need things smaller than vitamins to get her out of it.

[@amistenson2535]

HOW did the first hospital miss a UTI that was making her septic?!

[@ScreamTatumRiley]

Nurses don’t be really knowing stuff tbh

[@terrendanicks3995]

@@ScreamTatumRiley Yes, nurses do be knowing stuff. It would have taken a CBC to know something was wrong. This requires a doctor's order. Not a nurse decision.

[@st.francisanddr.pepper1304]

Poor sweet girl I'm sorry she's hurting.

[@a1yssaa]

Its so heartbreaking. I hope she will be okay . Poor sweet baby

[@shaggysbaggy4204]

God please heal that sweet little girl and put your hands on that family God bless yall

[@macswizzy9458]

Did the mother get the covid vaccination while pregnant?

[@annmariemazzucco5246]

Sending healing energy and strength To you all🙏🏼❤️

[@Leticia.R.]

Lot of prayers to her and her family

[@bonnieranda6410]

My thoughts and prayers go out to your family! I have an eight year old granddaughter missing a small part of a chromosome and is nonverbal and on a g tube. It’s hard when you are dealing with something so rare and unknown because there’s not a lot of answers to your questions!! Much love to your family!!

[@NaomiAnae]

Beautiful baby girl, prayers for her and her family 🥹❤️

[@Chronically_JBoo]

My sister and i were born with a genetic mutation that we've traced to my father. Our symptoms started showing up in adulthood and getting worse.

[@beautifulg2045]

🙏🏾🙏🏾🙏🏾I'm praying for you guys Shes soo BEAUTIFUL 😍😍😍🙏🏾🙏🏾🙏🏾🙏🏾

[@cookietx]

Prayers for Isla🙏🏽