Amanda LaValle was shocked to learn her daughter Iris is one of only six people on record to have been diagnosed with a rare disease

When Amanda LaValle’s daughter was diagnosed with a disease so rare it doesn’t even have a name, the mom of three was left in disbelief.

“Despite many ultrasounds, we were expecting a typical healthy baby and had no cause to believe anything that would be different from our other kids,” LaValle tells PEOPLE.

LaValle, whose family of five is based in Pennsylvania, was used to having painful pregnancies. With her first two kids — daughter Eliana, 2, and son Owen, 7 — she had gestational diabetes and a condition that made it painful to walk, but nothing ever affected her little ones. When she got pregnant with her third baby, daughter Iris Hope, her pregnancy was the same as ever.

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She had a scheduled caesarean section (C-section) for Iris, but her daughter’s breathing wasn’t quite right when she was born. When her breathing became more of an issue, Iris was whisked away and intubated. She was then brought by ambulance to another hospital, since the one LaValle delivered in didn’t have a neonatal intensive care unit (NICU).

Because she had a C-section, LaValle was stuck “across town” in the first hospital while her husband chased their newborn to the next one. LaValle had to spend the night at the hospital and ended up forcing them to discharge her so she could join her daughter.

“It was very stressful,” LaValle remembers. “They thought at the time that Iris had something called respiratory distress syndrome, which, I was unaware of at the time, actually happens to about one in 10 c-section babies that are born a little bit early, so at that 37-38 week mark.”

Iris spent the first week of her life at Children’s Hospital of Pittsburgh, where she was able to be extubated within a day. While she was doing well and was later discharged to go home, Iris still struggled with feeding.

“She was a really slow eater. I’m a speech and language pathologist by trade, so I actually know quite a bit about feeding in babies and adults, more so than the average person would,” LaValle explains. “And still, she was just struggling to gain weight, struggling to feed and was diagnosed with failure to thrive.”

This past May, Iris was prescribed a formula fortifier to try and help her gain weight. Unfortunately, after a couple of days using the formula, Iris had a negative reaction and went into shock.

“My husband and I rushed her to the Children’s Hospital, where at that point she was diagnosed with cardiomyopathy, which is a heart condition,” LaValle says. “And her heart and her lungs didn’t fully recover from that shock incident, and so she ended up needing to be intubated and had a two-week hospital stay.”

During her two weeks at the hospital, doctors could not figure out what was wrong with Iris. They ran different tests — which all came back negative — and were left baffled. LaValle pushed for genetic testing for Iris after hearing from a friend that her daughter was diagnosed with a rare, totally different genetic mutation.

“We pushed very hard and finally got them and insurance to approve doing genetic testing because Iris was essentially getting better, but we still had no idea what caused it,” LaValle says. “Which was terrifying to a parent of a little baby that just was intubated and in the pediatric intensive care unit (PICU) for two weeks, and they’re saying nobody knows why.”

LaValle didn’t expect anything to come back from Iris’ genetic testing. She and her husband had never been told they had any sort of family history of disease, so when they got a call in June to come in as soon as possible, she realized something must be really wrong.

“In that call, we found out that Iris actually had two genetic mutations,” LaValle explains. “The first and less severe one is called malignant hyperthermia. And that is the RYR-1 mutation that nobody in my family knew we had, but apparently, she got that from me. And it is dominant, so just having one chromosome of it is active.”

Iris also tested positive for a genetic mutation that can cause her to have a deadly reaction to certain types of anesthesia — a mutation that LaValle also has and didn’t know about.

“That complicates some of her picture because there’s a lot of medication she can’t have and certain types of anesthesia,” explains LaValle.

But the really rare mutation Iris has is on a gene that’s responsible for mitochondria and mitochondrial disease. It’s a recessive disease, so Iris had to have an affected one from LaValle and from her husband. Neither knew this mutation ran in their family.

LaValle shares that Iris is only the sixth child in the world to be identified with this mutation. “What we didn’t know at the time, in talking to the geneticists, is that all the other five children are currently deceased,” she adds.

All five other kids who’ve been reported to have the mutation were thought to have died due to sudden infant death syndrome, or SIDS. It was only when an autopsy was conducted that they found the mutation.

“Needless to say, that’s quite terrifying to know that your child has something that’s so rare and everyone else has died by 11 months old,” LaValle says. “So absolutely terrifying. But what we keep trying to remind the doctors, we try to keep positive and keep hope, but Iris is the first child that we’ve ever been able to try anything with for this.”

After Iris’ diagnoses, LaValle says they went through a pretty uneventful summer. Then, in August, on her son’s first day of school, Iris began developing cold symptoms. Because she knew about Iris’ mitochondrial disease, LaValle just wanted to get her checked out.

“And once we were there, I really pushed to have Iris have what’s called a modified barium swallow study,” LaValle says. “I thought that she was probably silently aspirating.”

Iris had the test done, which showed that she was aspirating on all levels for both thick and thin liquids. It also showed that she couldn’t eat by mouth anymore, so she was put on NG tube feeds.

“That was definitely a shock to the system all of a sudden, yes, my baby was struggling with feeding, but oh my gosh, now she has to be tube-fed, potentially for the rest of her life,” she shares.

They were in the hospital from Aug. 20 to Sept. 8, trying to get Iris to tolerate her feeding. Although they were able to go home for a few days, on Sept. 10 Iris ended up having to go back to the hospital.

“Right after my son got home, my mother-in-law told me that [Iris’] lips were turning blue,” LaValle remembers. “She said, ‘Amanda, I think her lips are turning blue.’ And she was in the middle of the feed, and I came over, and she was not breathing.”

LaValle shut off her daughter’s feed and performed two rounds of CPR on her. She had no pulse and wasn’t breathing, but LaValle was able to bring her back to life before the ambulance arrived with the EMTs. Unfortunately, her son witnessed her performing CPR on Iris.

Iris was then taken back to the hospital, and for three days, doctors were trying to work on her feeding. On the third day, Iris had another incident with bradycardia and desaturation and had to receive compressions again.

“Her nurse came in crazy fast, but I was faster and I was the one who started doing compressions on her again,” LaValle says. “And then we were moved down to the pediatric intensive care unit, where we have essentially been living since.”

Since then, Iris has had a few intubations and now has a more permanent central line because she’s still not able to tolerate full feeds. She’s also been having metabolic strokes, which are affecting different portions of her brain. Although she’ll be able to come home soon, LaValle and her family will still have to visit the hospital at least once a week for dressing changes.

LaValle admits that coming back and forth from the hospital so many times has been tough on her family. She and her husband have been “flexing” their time back and forth in order to be with Iris and also care for their older kids.

“Sleep is very hard to come by, let’s just put it that way,” she says. “We have not left Iris alone at the hospital for a single minute.”

“We found that with the older kids, if we switch back and forth every other day, it’s worse for them, that they kind of need one of us there for a couple days and then to switch, because the switching days are the hardest, to create some consistency,” continues LaValle. “So I’ll do a couple days down at the hospital and then swap off with my husband and he’ll do a couple days down at the hospital.”

She’s also been on an indefinite leave from work as she cares for her daughter, and says that the bills “don’t stop coming.” LaValle says it’s been more than she could have ever imagined, especially without an end in sight, but she hopes Iris will get discharged soon.

“And I believe that we will, but we would be kidding ourselves if we didn’t think that we’re probably going to have multiple more hospital stays during the sick season,” LaValle candidly says. “And the reality is, we have two other kids. We’re keeping my 2-year-old out of daycare right now to try to minimize the germs. But my 7-year-old needs to go to second grade, and there’s just going to be crud that comes home.”

If Iris has even the hint of a fever, she has to return to the hospital for a minimum 48-hour stay. Because she has a central line in, there’s a chance that it could get infected and go into her blood.

As for Iris’ future, LaValle says a lot remains unknown — especially whether she’ll hit the same benchmarks as other kids her age.

“Mitochondrial disease is a really wide spectrum, kind of like how autism spectrum, there’s vast differences of kids,” she says. “And where the genetic mutation is on the chromosome affects people differently.”

“Currently, with her milestones, she has met or exceeded all of them besides feeding,” LaValle says of Iris. “She’s rolling over both ways. She smiles, she coos, and babbles. She makes eye contact with people. She reaches out and grabs things.”

However, LaValle says that Iris is only 6 months old. She knows that when kids get older, there are more expectations and benchmarks they have to hit.

“I think it’s very unknown for Iris. Most of the doctors and geneticists would say that she is not going to follow a typical path,” she explains. “And I’m fully aware of what that could look like. I used to work in schools with children with special needs.”

“But I’m not going to give up hope on her, and I’m going to make sure that we’re working on all of the things so that she can achieve to the best of her ability. Whatever this is, I’m going to make sure that it’s not for lack of us trying and not giving her every opportunity.”

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