Gtube Placement

On December 9th Areli had her Gtube placed. She needs a Gtube because of hypoglycemia and failure to thrive. We were admitted on Dec 8th so she could receive TPN and steroids before surgery. TPN is IV nutrition and the steroids were a precaution for her suspected adrenal insufficiency.This kept her sugars stable and also provided nutrition necessary to keep her body from a metabolic crisis during fasting prior to surgery. For people with metabolic diseases, calories and sugars and fats are extremely important, they cannot fast for long lengths of time or else their bodies become extremely compromised.

The surgery went  smoothly, the mic-key button was placed and they also took 3 new biopsies from her liver. She has had 6 liver biopsies total now in her little life. The day before the surgery and the day of she did great. In the recovery room she was resting peacefully and all her stats were good so we went back into her room fairly quickly. Once there she woke up more and it was apparent she was in a lot of pain.

She received morphine through the night and she also continued TPN and steroids through the night and let the g-tube to gravity (which means letting it drain anything in the stomach by gravity). She slept well the whole night due to anesthesia and pain meds. A couple times she rolled on to her stomach and awoke due to the pain. The next morning (day 1 post placement) is when things changed. We started feeds with 2 oz of pedialite at a very slow rate (10 mL/hr) and she tolerated it great so we moved onto 2 oz pediasure at the same rate and every 4 hours decrease TPN to wean her off. Not long into the feed she threw it all up, so we took her off the feeds and back onto full TPN. We tried again and once again she threw it all up about halfway into the feed. This would continue to happen all day long. Her pain wasn't as bad and was coping with a mixture of oxycodine and tylenol. However 15 minutes before she would vomit she would cry in excruciating pain. She spent all day 1 post placement in bed, throwing up. That evening we gave her zofran (an anti-nausea medicine) before we tried yet again, another feed. She tolerated her feed almost all night, I thought we were turning the corner, but first thing she did when she woke up was throw up.

Day 2 post placement was full of more vomiting (this is the day we originally were supposed to be discharged) . Without fail she would throw up before the feeding was complete. Needless to say, I (and my family) did A LOT of loads of laundry. I even did some in the sink when I couldn't sneak away. Gotta do what ya gotta do right?

Areli couldn't hold anything down at this point. Even the 10-15 mL of water I used to flush her tube she would vomit. She was miserable.

We reverted to covering her with towels because she was throwing up so much and I really didn't want to do 2 full loads of laundry a day, one is enough and this made it easier to clean. Despite feeling so crappy, we took her on walks throughout the day to get her out the room and hopefully get her spirits up.

The night of Day 2 post placement wasn't any different. Poor girl continued to throw up and it was very painful for her to do. Up until Day 3 post placement the doctors thought that her vomiting could be effects from the anesthesia and/or feeling nauseous from the pain meds. However by Day 3 post placement the anesthesia was without a doubt out of her system and her pain was only being controlled by tylenol, but she continued to throw up. In attempts to figure out why this was happening she had an imaging dye test preformed because they were starting to think the g-tube might have been placed in the colon on accident. (ummm what?!) Thankfully, it showed that it was placed correctly, I was relieved, but we still didn't know why she couldn't hold anything down. Areli had also developed a cough during the stay and they tested her on Day 3 post placement for any viruses thinking hey, maybe she just has the flu, but those tests came back negative. Turns out she had been aspirating when she was throwing up and we suspected she was developing aspiration pneumonia because her chest was progressively sounding worse and worse and she developed a fever, so we headed off for a chest x-ray. It showed fluid in her lungs, but it had not developed into pneumonia. By this point, it was Thursday, she had nothing in her stomach since Sunday. She had thrown up multiple times a day, had fluid in her lungs causing a painful cough and an off an on fever. We went into the night very uncertain, but always hopeful the next day would be better. She once again received zofran before her night feed and we went to sleep.

Day 4 post placement brought a new ray of sunshine! Areli held her night time feeds down! In the morning she was allowed off of TPN and she was visibly feeling much better.

She held her feeds all day long and things were definitely looking up. The best guess as to the source of the vomiting was constipation. She had not had a bowl movement since Sunday and they wanted her to be able to have one the day after surgery. Finally, Thursday evening after a lot of laxatives she had two golf ball size bowl movements and that seemed to be the turning point. (Ya, ya, ya, nasty I know, but you're lucky I've left more of the hard-runny-stinky-vomiting-poopy-all-over-me-up-my-to-my-chin details out, so don't complain). Areli started to gain more energy and wanted to get up and play, however she hadn't stood on her own two feet since Sunday, and she completely lost her ability to walk or even balance while standing. It was very similar to an 11 month old learning to walk for the first time. She would hold our hands and take the big awkward steps and could not even stand up without help. I was not expecting this and it was very hard for me to see my baby relearn how to walk. To help her remember how her body works and gain strength she rode around the hospital on one of these bad boys.

She continued to tolerate her feeds, but at a much lower rate than her goal rate is but we were eventually able to leave the hospital on Saturday.

Between all our stuff, gifts,new medical equipment we looked like a train leaving the hospital!

First feed at home. I was very nervous about caring for the tube by myself, but it isn't as hard or scary as I thought. The hardest part was getting an active 18 month old to sit still during feeds, so we got a backpack for her.

We took a walk to the park while being fed...

She was able to climb and swing...

The backpack allows her to be a normal kid, while getting the nutrition she needs.

The weeks following surgery were filled with ups and downs. As you can see from the pictures from the park she was able to walk again fully after a week being home and working on it with her. She lost weight from her troubles with her feeds and went down to 19 lbs. She also ended up with a staph infection in her stoma (the hole in her body that the g-tube goes into),but luckily I caught it very quickly and we avoided more hospital time and treated with antibiotics. It was a close call because if I would have given it another day or two to find out if she did have an infection we would have spent Christmas in the hospital, but since we were able to treat with antibiotics right away we avoided the infection getting out of control. Now we are battling granulation tissue (tissue that grows because the body recognizes there is a hole in it and it is attempting to grow tissue to cover the hole) it is nasty growth that is raw and bleeds and it is hard to battle.

She has gained weight though and officially weighs more than she ever has! The tube doesn't bother her at all! She does still vomit occasionally and I don't know what from, we will see the doctors again about this, but overall we are pleased with her new accessory!
This is the pretty, less intimidating way her button can look...

 (Ignore her hands, I always catch her sleeping like this *face palm*)

But we cannot always dress it like this because it doesn't secure her tube enough and the movement creates more granulation tissue. Usually this is the way her tube looks..

I wrap everything with either her belt (I don't have a picture of) or a bandage like this to keep everything secure and it allows for less movement of the extension tube. This is what her tube looks like when not being fed..

..and this when she is being fed...

It looks extensive, but this method is the ONLY way I have been able to get rid of the granulation tissue and KEEP it away. I am looking into a product called grip loks that would serve the same purpose, but look a lot cleaner and easier.

 

We also named her button "Benjamin", ya know, for Benjamin Button!

I want to also thank everyone who helped us out during the hospital stay and after. Amazing family and friends who dropped everything to be with us and do laundry, bring or send food, bring toys for Areli and smuggle in wine for Mommy :) Fellow Mito mommy's who have enough on their own plates took the time to bring us care packages. We really did feel the support and love from our friends and family and mito community. I couldn't have done it without ANY of you, so thank you!

Love, 

Mama Linnea

mtDNA Variant-- HUH?

If there is one "truth" to mitochondrial disease, in my opinion, it's that things are always complicated. Ordinary colds could cause extraordinary complications; "simple" surgeries could become life-threatening; testing is abundant and often leads to even more questions; results from testing are always difficult to explain and understand- nothing is easy in the mito world.

With that said, I am taking on the complicated task to explain what we learned at Areli's appointment today. As you know we are trying to find the exact mutated gene that is the cause of her mito. It is proved she has Complex 3 Deficiency (the third level in the process to turn food into energy only works at 17% in her).  However, the four genes that make up the 3rd complex were all normal so we tested genes with known isolated liver involvement, outside of the complex 3. So far all of those have come back normal as well.

Still following me?

A test did come back though that might be leading us somewhere. There are two different types of DNA that your mitochondria are made from. One is called mtDNA (mitochondrial DNA). This comes directly from the mother, it is in her eggs before they are even fertilized. The other is nDNA (nuclear DNA). This is recessive from both the mother and the father's DNA. Both could be the cause for the mutation which lead to mitochondrial disease. Well, they found mtDNA variant at a low heteroplasmy level in Areli. What the heck does that mean?? This means they found abnormal mtDNA in her blood, but there was more normal mtDNA than abnormal. This could be the start to finding out where her disease originated from. It could be directly from my blood line, or it could be that when her DNA was splitting/replicating, it split wrong and the abnormal DNA continued to replicate overloading high energy organs (liver) with "bad" mitochondria's 

Still there?

Okay, so the question is what do we do from here? Her team of doctors are meeting next week to discuss the next steps for Areli. More than likely thoough, I will be getting my blood tested to look for mtDNA variants and we will do, yet another, liver biopsy. Because that is the only way to truly know if the mtDNA is abnormal in her liver as well.

Hello..? Hello..? Anyone out there..?? 

If you read through this whole thing, you rock!!! And don't worry if you don't quite get what's going on, I still have trouble figuring all this stuff out, after all it is mito and it is complicated! 
As a treat for getting through all this mummble jummble, here are some pictures! Hope you enjoy!

From our appointment with neurology today.

Love,

Mama Linnea

 

Failure to Thrive

Today we, or should I say Areli, had her G.I. appointment with Dr. M.

We went because Areli hasn't been gaining weight, despite eating like a grown man. Literally she eats more than I do. She eats 3 full meals a day, more than what I put on my plate and then she eats a snack every 45-60  min. It is exhausting to feed this child. It is also very concerning that she eats so much and is not gaining weight. Dr. M went through her growth chart with me and Areli has completely plateaued. Instead of the graduated growth curve that children should follow, Areli has stayed level at the same weight (give or take a few oz. gained and lost) for the past 5-6 months. Areli has now been labeled, Failure To Thrive. That phrase kind of sucks huh? Soo, now we have the daunting task to up her calories even more. I say daunting because I don't know how we can pack even MORE calories into this little body than we already do! But thanks to a dietician we met with we have some creative ways to pack on the calories and protein. Areli also had blood drawn to test her thyroid to see if maybe that could be the culprit of no weight gain. We will also test her blood sugars to see if that could be the problem. Wish us luck that we get some weight on this baby and that we find out why she is "Failing to thrive" because if she doesn't pack on the pounds, we may be heading down the path of a g-tube.

On a better note, despite no weight gain, Areli's head circumference and length are both growing right on track. Also, this is the best her little liver has ever been!! I am not sure if it is due to the CoQ10 or what, but for the first time since she has been alive SOME of her liver labs are IN THE NORMAL RANGE!! And most of the others are at an all time low. Her physical exam usually presents with a hard and slightly enlarged liver (by 1-2 cm), but today for the first time ever her liver was NORMAL, soft and the correct size!! Let's go ahead a give Areli a "Whoot Whoot"!!!!

Hopefully we get answers soon! (I feel like I've said that a time or two before, always waiting for answers for something with mito). Until next time friends!- I must go feed the beast, she's hungry AGAIN!

Love,

Mama Linnea

Well, Hello CoQ10!

So, today is a big day for Areli. Today she had her first dose of her mito cocktail. To those of you who are experienced in the mito world, this is a common, everyday ritual. For those of you who don't know, a mito cocktail is composed of different vitamins and supplements used to 'treat' mitochondrial disease. If you recall there is no cure for mito, so we make efforts to try to slow the progression of the disease and increase the quality of life. Many patients can take upwards of 50 pills a day to treat their mito. Every cocktail is specifically custom to the paitent and their specific symptoms/needs. To start, Areli is only taking one supplement, Co Enzyme Q10 or CoQ10.

This little bottle, that holds the potential to slow the progression of Areli's liver disease, to improve her quality of life, to give her little body more energy so her organ systems function more productively, is EXPENSIVE!- to say the least. So a HUGE thank you to our local Miracles for Mito Foundation, who made this available to us. There's no way to thank someone who is improving your child's health. 

Be sure to check out the founders of Miracles for Mito, Maria at Moments with Jacob and Heather at Samantha's Mom. They are amazing woman and mother's who have done incredible things for the mito community and patients. 

Areli Is Full of LOVE.... But Not A Lot Of Fat..

Mito can affect multiple organs, especially ones high energy functioning like the heart. So today we went to see the cardiologists at Children's to look at heart involvement. Areli had an echocardiogram and a EKG done, which she did great at. What did they find you ask? Well they found a WHOLE LOT OF LOVE in that little heart of hers! But on a serious note pertaining to her mito her heart is looking/pumping great. Unrelated, they did find a PDA or Patent Ductus Arteriosus. The ductus arteriosus is a leftover fetal artery connecting the aorta and pulmonary artery. If this artery stays open after birth, it's called a patent ductus arteriosus. So if you're not a medical student, this means that there is a "leak" in her heart. In utero, the ductus arteriosus brings blood away from the lungs (since the baby doesn't need to breath), every baby is born with it, but since the opening is no longer needed it closes a few days after birth. It is common in premature babies for the ductus arteriosus to to remain open, but rare in full term babies. In a child with PDA extra blood gets pumped from the aorta into the pulmonary arteries, which can lead to the heart and lungs working harder and lungs can becoming congested. Areli has a relatively small opening, so we are hoping it will close on its own, otherwise a devise will be put in to close it off.

Even though her heart is full of love, her body is not full of fat. She is up about one ounce since her 9 month check up. One ounce in 3.5 months and this girl can EAT! She went from the 80th percentile to the 10th percentile, completely dropped off the growth curve. With the amount of calories she takes in and lack of weight gain we are concerned something is wrong. So we will take another trip to see Dr. M her GI specialist to try to figure out whats going on. Hopefully we can figure it out before she gets too skinny. I'm worried about this. Until next time.....

Love, 

Mama Linnea

Tighten Up Your Buns, Areli is ONE!

*This post is also being featured on the Miracles for Mito blog. Every week there is a different blogger, writing about what it is like day to day to care for a child with mito, or who live with the disease themselves. Check it out, new posts every Sunday!

Baby girl I can't believe you are ONE! I know everyone says it but this year has flown by! Your first year of life didn't go as planned.. You had to endure more hospital stays, procedures, anesthesia and blood draws than most adults. I wished at every moment I could take your place and feel the pain for you. You are one tough cookie, my love. Even though your first 365 days of life weren't exactly how we envisioned, you have lived and fought every second of those three hundred and sixty-five days. You have 10 perfect little fingers and 10 perfect little toes. You have a beautiful smile and infectious laugh. You are the best little sister and perfect little daughter. You have conquered your hurdles like an Olympic track star. You have accomplished things we weren't sure you would be able to. You are showing us you are stronger than we know. You have taught us patience, acceptance, perseverance, advocacy, and strength. You have taught us it is okay to cry. You have given me a drive and purpose- to be the best mother/advocate for you I can, and to raise awareness for Mitochondrial Disease. You have blessed us for a whole year and will bless us for the rest of our lives. You have thousands of supporters all around the world and you, my child, is spreading awareness of your disease before you can even talk. I couldn't be more proud of you and I couldn't be more blessed that you are ONE! Here are some photos of our celebration:

Areli's watermelon cake!*

 

Big sister Leilani eating a cupcake

Areli's cousins and Aunt.

*Watermelon cake recipe: it is really very simple, cut the watermelon to shape, frost with Vanilla Greek Yogurt (or any other flavor) and decorate with fruit! We crumbled chocolate and sprinkled it on the sides, but a good substitute would be crushed nuts- ENJOY!

And a piece of Skin...

Areli had her skin biopsy on May 28th. We did a skin biopsy to see if the Complex 3 is deficient in the  mitochondria in her skin, the same way it is in her liver. This doesn't mean there is something wrong with her skin, it is just another piece to her complicated puzzle.

Smiling before the procedure

She did great! Our girl took it like a champ! They took a pretty good size chunk of skin, she barely cried and then fell asleep before they even put the bandage on.

Cuddling with Daddy after the biopsy.

Playing at Oma's house after the biopsy.

Exhausted from the day.

Baby girl slept soundly that night and so far her biopsy sight is healing perfect! Just no swimming for 2 weeks :(

Love, Mama Linnea