Important Info.

This is a list random but important things about Areli that are a need-to-know for someone who may have knowledge about this:

• Her poop is normal in color and texture
• Her urine is normal in color
• She is thriving; gaining weight and so far meeting milestones
• She is of Filipino, Indonesian, African American, and Canadian descent
• Her AST stays around 145-170, normal 20-60
• ALT stays around 55, normal 5-45
• GGT stays around 215, normal 6-19
• ALKP stays around 420, normal 145-320
• Her white and red blood cell counts are normal
• Tyrosine was 171, normal 22-103
• Ceruloplasmin low at 6.6
• PLT fluctuates between 705-680, normal 150-500
• Ferritin 469, normal 10-95
• She used to not make enough protein, but now she is in the lower end of normal
• Yellow-Orange fatty liver biopsy that presented unremarkable otherwise
• Inflamed bile ducts, otherwise normal in presentation (no blockages or masses)
• Random episodes of low blood sugar

*This is all I can think of for now, but will add to the list as we progress...

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Liver Transplant?

At this point, I was losing hope we will ever be diagnosed. So I ask Dr. K what his prognosis would be. He basically said, cross your fingers we figure this out or it just goes away because if her liver stays the way it is, she will need a transplant...

A TRANSPLANT- a word a parent never wants to hear.

So of course I was locked and loaded with questions about this.

When?: Unknown, just whenever her liver isn't functioning well enough anymore

How?: Better to use deceased liver; however live donors are accepted

Can I be a donor?: When the time comes, anyone can be tested as a possible donor 

Basically, if we don't figure out why her liver is the way it is and stop it, she will need a transplant. It could happen this year, it could happen in 5 years, it could happen in 20 years, no one knows. Like I said, fatty liver disease usually doesn't show symptoms for 20+ years; however Areli already is so she is 20 years ahead of the game so how much longer does she have? we don't know. 

I try to hold on to hope it will just go away on its own, but given the fact even when her jaundice is low, her liver enzymes STAY very consistently elevated doesn't really suggest it will. But the thought of watching her get sick enough until she is in end-stage liver failure, just so we can be put on a list for a transplant is unbearable. Something about waiting for her to deteriorate before we make her healthy seems like a sick joke.

So, before we give up hope, Dr. K suggested we do a specialized MRI of her liver. For this, Areli needed to be sedated and spend a day in the hospital so she could come off anesthesia.

 

Areli did great and we were allowed to go home a little earlier than expected!! We returned a few days later to Dr. K for the results and even with my hopes dwindling, I just KNEW that something would come from this test... My heart was once again broken when the results showed nothing we already knew (fat in the liver). 

Dr. K and the doctors at the Metabolic Clinic are constantly consulting with colleagues about Areli and each found more tests they wanted, so two weeks after her MRI we were back to the hospital for blood work. It was the worst blood draw experience we have ever had!! They needed so much blood they had to calculate exactly how much they could take because they were at the cusp of taking too much. She had to be poked in both arms because the first arm ran out of blood. All together they took TEN vials of blood. My poor baby was almost bone dry and she has never cried that hard out of any of her procedures. 

Not all of the results are back yet, but the ones that are, once again, show nothing more than what we already know, that she has liver disease... I am beginning to wonder if putting her through all of this is the right choice....   

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Doctors and Crying and Pokes, Oh My!

The next weeks turned into a blur of crying, doctors appointments and blood work. Areli would soon start to CRY, a lot. The doctors said she may feel abdominal discomfort, so we think that's why she would cry.

 

Feel free to stop this at any time.

She would SCREAM out for hours everyday and just stare into my eyes as if she was begging me for help, just heart breaking, not to mention exhausting.

Areli also started to throw up (no not spit up), but projectile throw up randomly. Not everyday, not even every other day or sometimes multiple times a day. It would come out of the blue, would be just normal looking milk, then she would go about like nothing happened. 

Since the hospital we have been at the doctor twice a week. One to Dr. K for clinical evaluations/results and then to the hospital for blood work. (This baby has been poked so many times she barely flinches anymore).

To summarize her blood tests and results, she tested negative for every disease or symptom shocker, but her bilirubin had gone down to almost normal small victory! but her liver enzymes were still very abnormal and getting worse (which are the ones that will cause cirrhosis) bummer. We were allowed to go back to breastfeeding hooray!, she continued to test negative for any diagnosis again, shocker, and her liver enzymes stayed consistently high and abnormal double bummer. Her bilirubin went back up shit, she tested again negative for anything ok this is getting old, and her liver enzymes stayed consistently elevated ____ insert bad word here. We concluded that this was not a problem because of an outside factor. Nothing that happened during pregnancy, nothing she could have contracted, so we went to the Metabolic and Genetic Specialists at  Children's Hospital. We were fairly very certain this was a genetic condition and they would have an answer. One doctor appointment and $5,000 worth of blood work later all they could tell us was she had liver disease, but none they know of...

 Her skin color when bilirubin is high

 We continued "supportive care"- blood work to watch her liver function and bilirubin and visit Dr. K every other week for clinical evaluations. 

At this point everyone knows she is not any normal case of liver disease, so I started to take things into my own hands and I would spend hours online researching rare disorders or hours going over her levels (because her bilirubin would fluctuate so there must be a factor influencing that). The only outside factor to her bilirubin was diet. She was on no medicines or supplements so MY diet had to be the culprit (or at least the culprit's sidekick). So I have been dairy free, gluten free, and vegetarian, except for fish. I am VERY happy to say since, her bilirubin has remained on the lower side- not quite normal AND the crying has decreased, a lot. Her liver enzymes are still very abnormal and she is no where near being cured of this disease, but if this diet helps her discomfort I consider that a VICTORY!

Big sister Lani loves taking care of Areli and kissing her and telling her stories :)

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Medical Mystery

Almost a week after leaving the hospital, Daddy, Areli and I went to see G.I. specialist Dr. K. We had the expectations we would be given a diagnosis, treatment, etc, boy were we wrong! As Dr. K handed us a packet of paper with all of the test results he said "her file will be a lot bigger"- great. 

We went over all the blood work and different diseases and syndromes they had tested her for and she was negative for them all. Her biopsy presented as very yellow-orange, irritated, inflamed and very fatty and otherwise unremarkable. We were given a temporary diagnosis of Hepatitis Steatosis or Fatty Liver Disease. 

Fatty livers usually stem from poor eating, obesity, or alcohol abuse. (Obviously Areli didn't fall into either one of those categories). A fatty liver usually is silent and doesn't present with any symptoms, unlike Areli's case. A fatty liver can also be reversed if whatever is causing it is stopped, i.e. cutting calories or abstaining from alcohol. If the fat remains in the liver it will cause scarring and scarring will cause liver failure. So to save Areli's liver, we need to figure out what is causing it.

The pathologist and doctors had "never seen a case like hers", that she was very "strange" and "mysterious". So to be sure they weren't missing anything, her liver biopsy was sent to the top pathologists all across the country; Children's Hospital in Philadelphia and Duke (to name a couple)- at this moment it is still traveling the country to different institutions. I was very confident they would give us an answer, but each and every doctor came back with the same response. She was a Medical Mystery.

The day we were discharged from the hospital.

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Got Health Insurance?

After our last appointment at 14 days old we were informed that Areli didn't qualify to be under my insurance and everything we had done we needed to be paid out of pocket for and we could not continue care until our account was paid. Areli was officially uninsured and we needed to get her to the doctor because her jaundice had gotten worse.

Her skin was EXTREMELY yellow, her eyes were yellow. Since we didn't have health insurance I held off getting her to the doctor until our application for Medicaid was approved. Days turned to weeks and my poor baby kept getting yellow, however she was acting like a normal newborn so I convinced myself to wait until our insurance went through.... Until one day she uncharacteristically slept for about 14 hours straight without being very interested in waking or eating. Despite no insurance, that Monday 7/30/12, I took Areli to the E.R. at Rocky Mountain Hospital for Children at Presbyterian/St. Luke's Hospital in Denver. As I left the house that evening around 6 pm with Areli, I told her daddy who stayed home with Leilani that she probably only needed the phototherapy treatment and I would be home for dinner. Little did I know we would spend a week in the hospital.

The first night

Still smiling

Cuddles

Areli and Daddy asleep in the hospital

We were admitted because her direct bilirubin (jaundice) levels were a 2.1 when normal is 0.0-0.3. They were very concerned because at her age (almost 8 weeks) any normal newborn jaundice would have gone away, so this was indicating there was something wrong with her liver. I of course didn't bring anything with me except a book, so I frantically had my clothes, phone charger and toiletries rushed to me. Thank you to my VERY supportive friends and family we were able to juggle Leilani with Daddy's work and school schedule so that I was able to stay 24/7 with Areli. Throughout the week her blood was drawn multiple times a day and we were seen by (too many) doctors. They assured us we would not leave until they figured this out- ya right.

She had elevated liver enzymes (AST)- normal is 20-60, hers 135

(GGT)- normal is 6-19, hers is 360

(ALKP)- normal is 145-320, hers is 462

She also wasn't making a proficient amount of protein, and all of this indicates liver disease. Through countless blood tests and an ultrasound, they ruled out just about everything, so they decided on day 4 to do a liver biopsy. 

They took her back for surgery and even though it only lasted  1.5 hours, it felt like a life time as my mom and I waited in the pediatric surgery waiting room. FINALLY, we were called back to recovery were my sleepy but screaming baby awaited.

We were discharged with the intentions that we would find out our diagnosis in that upcoming week with our GI specialist Dr. K, and with a new special diet for Areli. A yucky formula called Progestamil. (It is halfway digested I guess from algae so it is easier for her liver to process). Needless to say going from breastmilk to that was a battle, she HATED IT!

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea

Welcome Little Miss Areli Rose!

Our story begins on June 5, 2012 when Areli was welcomed by countless friends and family, who adored her even before we set eyes on her.

It was a relatively normal (easy) delivery at 39 weeks and she came out strong and healthy and screaming her pink little buns off! She was absolutely perfect and beautiful and her whole family fell in love with her.

The nurses and doctors did their routine baby check-ups and she was perfect except for a little bit of jaundice, but we were allowed to go home with the instructions to put her naked in the sunlight to rid of the jaundice (no big deal her sister had the same and after a few days it cleared up). So we packed up our new little bundle of joy and set home as a new family of four.

Big sister Leilani holding Areli for the first time at home.

We did as the doctors instructed and put Areli in the sunlight day..

After day...

Note the yellow tint in her skin.

After day...

Despite efforts to keep her in the sun, she would look more and more yellow everyday. It would almost look as if she had a really bad fake tan. 

We followed up with her pediatrician the day after she was born and her jaundice levels had increased. We did more blood work at 3 days old and her levels increased again. We did more blood work at 7 days old and the levels had increased "at a more rapid pace than expected" and the ped. said if by the next appointment her levels were up more we would need an intervention. Imagine my worry. So at 14 days old we head over to do more blood work and her levels had "plateaued and should go down from here", so no treatment for us! Imagine my relief!

The doctor sent us home with more instructions to continue the sunlight and if her yellow seemed to be worse or if the whites of her eyes became very yellow or if she was hard to wake, overly tired or acting out of character to call or else we would just see her at her next scheduled appointment of one month.

So we went about our lives keeping a watchful eye on our baby.

Thank you for reading about Areli, please share so we can get our story out to help find answers.

Love Mama Linnea