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

Thank You

HELLO WORLD!
I have a couple updates to write, but as I sat down to start a post I realized just how loved our little Areli Rose is! I would have never imagined people from all around the world would be so invested in her story and journey. She has readers from 14 different countries!! So to all of you out there near and far (very far) I wanted to say thank you! Thank you for following, thank you for your prayers and well wishes. I just hope that Areli can inspire hope, rising against the odds and appreciation for  every moment because tomorrow isn't promised and today is beautiful! Most importantly though, I challenge each of you out there to educate 5 people about mitochondrial disease, and challenge them to tell 5 more people and so on and so forth. This disease kills more children than all childhood cancers, yet no one knows about it. Every 15 minutes a child is born who will be diagnosed with mitochondrial disease before the age of 10. We NEED to spread awarness. We NEED to find a cure. We NEED Mitochondrial Disease to become a household word. Thank you for your continued support my worldly friends!
Love, Mama Linnea

Still on the Journey...

So where to begin? A lot has happened this month since my last post, I guess I'll start where I left off!

Areli had a brain MRI earlier this month, which I will spare you the horrible details of.  All in all, after a day full of bumps in the road and a lot of tears from Mama and Areli, we learned that Areli's brain is normal!! Which means that we have a better chance of being eligible for a transplant, if that day should come AND it means that the suspicion of seizures is gone! The "seizure-like" movements she does turn out to be a movement disorder, which should resolve itself.

This month Areli also demonstrated another symptom of mito. When a persons body is energy compromised, a day in the sun, stressful situations, or too much activity can cause an energy crash. An energy crash can result in a minor to major crisis in the body. A few days before her MRI we spent a whole fun filled day outside in the sun with family and friends. Areli seemed tired, throughout the day. Her eyes seemed very droopy and she was just not as active as normal.

Notice she isn't focusing her eyes.

That evening after she was asleep for the night I noticed she had a fever 103F. For the next two days Areli struggled with regulating her temperature and exhaustion.

She slept all day for two days and refused to eat or drink anything but milk. Our day out in the sun took so much energy from her it took two full days to recover. She ended up having another energy crash after her MRI which ended with another scary high fever and lethargy. We are now learning how to monitor Areli's energy and heat intolerance so that she can still enjoy the summer without the repercussions. 

Areli's gene results also came back this month. If you remember we have been waiting on this gene work for 3 months. We were hoping with these results we would know more about her specific disease and prognosis. The 4 genes in Complex III all came back normal. Which sounds good, but actually isn't. The doctors have absolutely no prognosis and we still don't have a specific diagnosis. There is only so much they know about this disease. They know Areli has complex III, yet the genes in complex III are normal, doesn't make seems huh? Unfortunately, there are A LOT of unknowns with mito. So in an effort to find her specific mutation we at doing an entire DNA sequencing. They took my blood, Daddy's blood and Areli's and will try to find a mutation. This will take years to do. In the mean time we are testing a few other genes associated with specific liver involvement, but it is looking like we will not have a specific answer for years, which is pretty common in mito. 

Areli will also be getting a skin biopsy in a couple weeks and will see a cardiologist to rule out heart involvement. We are also starting her on her "mito cocktail" ( the only treatment for mito which is different supplements and vitamins).