Leah Raquel Esquenazi was born February 17th, 2011 in Los Angeles, CA. Everything went well with the pregnancy and delivery, her head was not angled the right way so we had a c-section, but other than that she was healthy and perfect when she was born. The only thing we noticed was that she had a little squeaky sound when she breathed and she was a little on the floppy side. The doctors told us that she had Tracheomalacia (floppy airway) and not to worry, that she would grow out of the noisy breathing as her trachea got bigger.
fresh out of the oven!
At 1 month on March 16th, we were at my post partum follow up and we noticed that she was a lot fussier than normal and vomiting a lot. On our way home from the visit we had to stop the car because I noticed that she was making a strange movements; she looked almost like she was trying to poop, but not quite. Her eyes got really big and she was almost trembling, and it would come and go for a few minutes. Terrified, we took her back to the free clinic in LA where my doctor's visit was and asked what we could do. There were no pediatricians there that day so they recommended we take her to the closest hospital, CHLA. We were in the ER for about 3 hours and she seemed to be doing better, no one except the admit nurse had seen the movements (and she thought it was a seizure), but the doctors sent us home and just told us if she got a fever higher than 100.3, to bring her back to the ER. Later that night, the following day at 2 am, I woke up to feed her and took her temperature just to be safe. It was 102.3, definitely a fever we should worry about. So we rushing to ER again, this time to Cedar's Sinai, as it is the closest hospital to us and where she was born.They saw her immediately and started the whole series of tests that they do for babies with high fevers, screening for meningitis, doing a spinal tap, etc. During all this, when her fever was still high and hadn't come down yet, they noticed that her eyes started rapidly moving from right to left, but really really fast, almost flickering. They decided to do a ultrasound of her brain just in case it could be neurological, but found it to be normal. She stayed on antibiotics for 4 days and then we were sent home, the cause of the fever never explained. They told us it was most likely a viral infection...
at Cedar's Sinai
At months, she got her first round of shots. After the shots she was fussy, more than usual, but nothing to really worry about since the doctor said that was normal. But after about 4 days we noticed that was still very uncomfortable, and was crying a lot for no apparent reason. Then she started vomiting, but like a lot, like projectile vomiting. We took her back in after it wouldn't stop for a few days since we worried she might get dehydrated. This time we finally had insurance so we took her to UCLA. They did the same there, also noticed that her eyes were flickering constantly with the fever and kept her for a few days, gave us a medication for the vomiting and sent us home again. I think we went back twice more for the same reasons in the span of 2 weeks , but now she had started moving. But her movements wouldn't stop, she would move her head, arms and legs back and forth and sort of cry out like, "what's happening to me?", she looked like she was getting frustrated by the movements, but nothing stopped them and no one could tell us why she was moving. Our pediatrician got us an appointment with the geneticist, jsut to see if maybe it was a metabolic issue, maybe the acid reflx theory they had so far was incorrect. So, we saw him and explained everything and he wasn't too happy about her, in fact he was really worried. He wanted her to be admitted, but said he'd need a few days to work it out. We took her to the ER the next day, this time she was also vomiting but was arching her back to much it looked like a sci-fi movie and she would cry whenever it would happen. She was admitted on May 3rd to the pediatric floor.
on the UCLA children's floor
Other than the movements and some ocasional vomiting, she was really fine. She was eating normally, though with breastfeeding she would vomit and with the bottle she wouldn't so we think maybe it was coming out too fast for her. On May 9th, we noticed she was having a hard time breathing, so we calle dthe nurse and she immediately called the doctor who then called Rapid Response, a team of people who handle emergency situations in the hospital. Suddenly 20 people were int eh small room with us, mayhem was everywhere, it looked like something from the TV show, ER but in real life. Our doc kept us calm though through it all and explained everything that was happening. They had to intubate her, she was working so hard to breath that soon she would go into cardiac arrest, they had to wait for an ENT (ear,nose,throat) doctor to come and intubate her since she had the floppy airway and they were afraid they would do more harm than good without him there. He finally arrived, and intubated her and they took her to the PICU (pediatric intensive care unit), it was surreal to say the least. She was hooked up to about every machine in the room and looked so tiny. And here we thought she was just having some bad reflux. They kept her sedated but the movement never stopped.
first night in the PICUWe stayed in the PICU from May 9th until July 20th of 2011.We never left her side, we basically lived there, going through a various diagnosis's, tests, possible treatments and never finding an answer. That's about the time I started this blog (you can see more detailed info from our stay in older blog posts). She developed cataracts at 4 months, and had surgery to have them removed, her vision has been declining since then, even though she wears glasses. She had a muscle biopsy that left her so sedated she had to be intubated again after she had been extubated, eventually getting a trach. I was lucky that my job let me take all that time off and even helped me out with a bonus check towards the end because we were really hurting for cash.
While we were int he PICU, a friend started a donation page, just to help us at least be able to afford lunch at the cafeteria and it blew up. The whole Star Wars community rallied for her and for us.
She still went back and forth from the hospital to home, staying a month at home, then needing to go back.
Since then the movements have been off and on, although ever since that seizure, she has been a lot less active, since she's kept pretty sedated from the seizure drugs.
We recently finally found out that all her medical problems come from a genetic mutation, a mitochondrial disease which affects all the cells in her body. This specific mutation, however had never been seen in any other person, until they tested my blood and found the same mutation. It is a mutation that places her disease in the same category as Leigh's disease, a fatal disease that most children only survive up to a few years with. It also is very close in genetic structure to Leber's hereditary optic neuropathy (LOHN), which causes blindness. Because this is a new mutation, the future is still unknown.
She still continues to fight for her life though, and we have to believe in her and her strength. She gives us the strength to not break down, so we won't give up on her, we'll keep searching for any new treatments, medications or cures for her incurable diesease. We make sure she receives all her therapies, including occupational therapy, physical therapy and vision therapy. And most of all, we'll continue to give her all the love that we can.
Thanks for reading.