Michigan Photos, Part 1

  We have been back in Florida for just over a month now, so here are the first half of my top favorites from our time while we were in Michigan for two and a half months. If you have not seen the PICU Christmas post that I wrote in January, please check it out since I just added pictures that were not originally on there.

  One of the first pictures I got of Emma when we saw her after we arrived in Michigan on Monday, December 11th. She had a 9-minute cardiac arrest when she got to the PICU around 3pm (due to her trach being clogged), but was smiling and happy to see us when we arrived around 6pm. Originally I was pretty bummed when I was told the day before that I was not able to fly up with her in the medical jet, but after hearing about the arrest, I am so very thankful that I was not there to witness the event.

 12/15/17: Emma got a visit from Denver, one of the therapy dogs at Mott Children's Hospital.

12/16/17: Six months old now and laughing about something! :)

 12/22/17: Working on holding her head up and tracking objects with Alice and Sarah, the Occupational and Physical Therapists at Mott. I was very excited that they worked with her on so many things, when I assumed they would only deal with the 3D airway splints, which was the main point of our stay. It is a really great hospital.

 This is Emma's oral brush given to us by the Speech Therapist, Samantha. She showed us how to get Emma used to different feelings (to later use a spoon to eat with) and instructed us to practice holding Emma's cheeks together while using the pacifier to work on her sucking muscles. We either dipped the brush and pacifier into sterile water or formula.

 12/27/17: Heading down early in the morning for the big surgery!! Lots of prayers were said the night before, during and after this surgery. Emma did so well. We could not be more proud of our girl!

 12/29/17: Although heavily sedated and on paralytics, Emma peeked her eyes open for us this morning and gave us a quick smile before going back to sleep for a long time.

 When Emma had recovered more from surgery and it was safe to do so, the nurse and respiratory therapists would use this percussor to "hit" Emma's chest and back in order to get the secretions moving up so they could be suctioned out of her trach. The tool was loud against her skin, but very soft and she really seemed to like it being used.

1/3/18: Emma was lifted off of the sedation and paralytics on New Years Eve. She still slept most of the day. This was a few days later when she did not require so many naps. This day her PICC line was moved from her left arm to the right arm because one of the lumin wires had migrated up her neck instead of being in a central spot near the heart where it should be. 

 1/9/18: I was very happy when one of the nurses, DeSharra, said I was allowed to sit in the crib with Emma! She seemed a bit confused by it, ha. :)

 1/10/18: A few pictures early in the morning before Emma went down for another surgery- a tracheostomy revision so it would be easier to change the trach with the 3D splints placed.

1/13/18: Emma in her favorite place ~ Daddy's arms! He is so great at getting her to laugh by making silly noises, making her toys give hugs, and massaging her head.

Slow and Steady Wins the Race

Since the last update almost two weeks ago, the biggest thing is how much Emma's PEEP has come down! PEEP is the positive end expiratory pressure, which is the amount of air that gets pushed through the ventilator, trach, and airway to keep her lungs open. It was at 12 last Tuesday before she went down to the OR to get the bigger pericardial drain since the smaller one she had in before was not helping get the air out of her chest enough. Down in the OR the surgeon saw that her lungs were over inflated with the PEEP of 12, so they turned it down to 8! She did so well with the lower PEEP that they kept it there over night to make sure she was still ventilating and oxygenating well. The next morning they tried turning it down to 7 and that evening it was at 6! Two days later (this past Friday) her PEEP was at 5. They told us that 5 is basically the starting point and compensates for the circuit tubing. 

Doctor Green came in exclaiming, "This is ridiculous! Her PEEP is at five! She is doing so well!" All of us are frustrated about her stupid fistulas (the two holes in her trachea tissue that are causing air from her ventilator to be pushed into her chest). If it wasn't for those holes we would have been back in Orlando two weeks ago. But we also might not have known how well Emma could do with a PEEP so low, which is incredible. A few weeks ago when her PEEP was 12, Doctor Green assumed Emma would need to stay on the ventilator long term, but now he says she might not need the ventilator too much longer. Maybe a year? Maybe less! He didn't give us a time estimate, but that's me being hopeful. Unfortunately the air in her chest has caused three pneumothorax (collapsed lung, on the right side) in the past two weeks, so we really need those fistulas to heal. Two of the times (on January 24th and yesterday morning) they had to put in a chest tube in to keep the lung open. The other time it happened was not severe enough to need a chest tube, and when it happened yesterday they would not have known except that she has been getting daily X-rays. All of her vital signs stayed stable, so I think Emma is trying to tell us that she doesn't need her ventilator or her right lung, ha! But she'll keep both of them for now. 

Today was a big day. Emma had another bronchoscopy for Doctor Green to put the tiny camera light down her trachea to see if the fistulas had healed enough to keep waiting. If they had not, or if they had gotten bigger, she would need a surgery scheduled at the end of the week to patch the holes, meaning they would have to open her chest again. But at 1:30pm with ten doctors and nurses in the room (13 people total including me, Michael, and Emma) he did the bronchoscopy and we all received good news. The fistulas had enough granulation tissue around them that we could keep waiting for them to heal on her own. The main downside about waiting for her to heal is that they have to keep her sedated and paralyzed, which she has been for the past two weeks. Doctor Green wants to keep her sedated for one more week now. We are not able to hold her when she is on paralytics, and that has been hard for us, as well as not seeing her eyes open or being able to make her laugh, but a few times lately I have been able to snuggle next to her in the hospital bed for a couple hours. It is obvious that Emma knows when we are with her because tonight her heart rate was at 150, which is high for her being sedated without trying to move over the paralytics. But when Michael held her hand for 15 minutes her heart rate got down to 130, and when I was also holding her hand, her heart rate eventually got down to 112. That makes us feel good. 

Backing up to last month: On the day before Emma turned 7 months old (January 11th) her genetic testing results came back and she was officially diagnosed with Meier-Gorlin Syndrome, which is under the umbrella of Primordial Dwarfism. She has type ORC1, which is the type with the shortest stature, along with ORC4. Emma will probably grow to be between three and four feet tall. The geneticist told us that of all the people who have Meier-Gorlin, 29% of them have this type. There are 8 types (strands), but as of a 2015 report, there were only 67 known cases in the world. Some of the most common characteristic features include short stature, underdeveloped or missing knee caps (the geneticist told us that the part I thought were her knees, are really the end of her femur bone), Genu Recurvatum which is the backward bending knees, small low-set ears, and a tiny jaw. 

To get very technical and throw out a bunch of science/ math equations, her sequencing results are as follows ~

Pathogenic Variants:
1. ORC1 Exon 4-Heterozygous
2. ORC1 IVS9-Heterozygous

Nucleotide:
1. c.314G>A
2. c.1482-2A>G (ISV9-2A>G)

Protein:
1. Arg 105GIn
2. N/A

The geneticist explained what this means and even drew out a little DNA graph of exons and introns, but a lot of it went right over our heads. Maybe if we were explained it five more times it would make more sense? He did say that the introns "code" is ISV1, ISV2, and so on, so in the Pathogenic Variant (#2 above) it's Emma's 9th intron in that strand that has the change. Because she has two of the heterozygous, it means Michael and I both carried the recessive gene creating a compound heterozygous variant. He said we have a 25% chance of having another baby with the same thing, but we agreed that we would only have one kid even before we found out in May that Emma was half the size of an average baby. 

The geneticist printed out a paper from 2011 that reported two other people with the exact same mutations: a 47 year old man in the US and a 15 year old girl in the UK, both of whom would be six years older at this point. There is very little information on Meier-Gorlin Syndrome and a lot of the information we can find seem like old studies. So I'm not sure how many cases there are as of 2018 or how long it would take for Emma to be added to these studies, as case #68 (or maybe 75 by now). 

Emma's stats: She was born at 37 weeks and 1 day. Birth length was 15 inches, recent lengths are 19 inches at 7 months and 20 inches now. Birth weight was 3 pounds 3oz (1450 grams). This hospital in Michigan measures in kilos instead of grams and in the past two months she has gone up and down between 4.4k (9.7 pounds) and 5.5k (12.3 pounds!) depending on how much fluid is in her system. IV fluids love to soak into her little body and she can puff up very quickly because of it, so she is often getting doses of Lasix and Albumin after a procedure. We are so excited that we finally got the genetic results since we had been waiting since May when we learned that our daughter was a Little Person. 

Therapy

Emma has been getting therapy since shortly after birth. It was her 10th day of life that the OT (occupational therapist) in Orlando created little removable casts for her legs that bend backward. The casts were made out of heat-formed PVC plastic, lined with Tempo fabric, and had a slight bend where the knee would be. They were placed on the top of her legs, like shin guards for the whole leg, with a few soft pieces of fabric that would velcro around the cast and hold it in place. She took pictures of Emma's legs while placing the casts and made a sign so when they were taken off for nightly baths, the nurses would know how to correctly put them back on. However, when Emma had a nurse that was less familiar with her, we would sometimes come in to visit and find them rotated or down lower so the knee part was not in the correct spot. In the middle of August (when Emma was 2 months old) the OT made bigger splints, and this time made it like a shell that opened on one side, so when velcro'ed the casts covered the front and back of her legs. These were a bigger size as she was growing a little bit, but she only wore them for a week or two because the nurses said she seemed aggravated by them and would "desat" while wearing them, meaning she got cranky or cried and her stats would go down. Other times her stats go down even when she's fine just because her leg is kicking so much and the probe on her foot has "poor signal". We would often forget that even though the casts felt so light, for a five pound baby those little casts were the equivalent to having 20 pound weights strapped to your legs! Having her stats up and breathing well has always been the top priority, so the casts have not been used since August.
Since OT was no longer able to work with her legs in that way, the therapist would sit Emma up and let her work on using neck muscles to look around more and hold her own head up. They also worked with using her hands to comfort herself- bringing her hands to the midline, where they are folded over her chest, and playing with her hands in her mouth or sucking her thumb. I also think this was around the time that she began using mirrors and instantly loved them! She loves looking at "the baby" and often smiles or laughs at herself. 
Physical therapy worked with her a lot too in Orlando, as well as with me and Michael when we were there at the same time. That therapist would very gently move Emma's hips and legs to practice them bending properly in different directions. She showed us how to help calm Emma down by placing our hands on her and taking deep slow breaths. The first time I showed this technique to Michael it worked magically and he was very impressed! ;) 
We were surprised when Emma was also assigned a speech therapist in August since she obviously wouldn't be talking any time soon, but we learned that speech also helps with oral stimulation and swallowing so she could later learn to bottle feed. They were not able to do much with speech because that was around the time they said she needed the G-tube for feedings and had the feeding tube taken out of her nose. She got the G-tube placed at the beginning of September. They did a test the day before where they put dye in her mouth to see where it goes. Unfortunately hers went down her trachea and into her lungs rather than down her esophagus. A couple other times she would accidentally get condensation from the ventilator that went down her trach and she would instantly turn red and began coughing. One time she quickly passed out because of it. 
As for the therapies in Ann Arbor, Michigan, it is interesting to see the different things they work on. Granted they couldn't do much in November for Emma in Orlando because she was still passing out every day and sleeping a lot of the time. But with the higher vent settings in Michigan, she has not passed out in 11 days -hooray!!!- so the therapists have been able to do more with her.
Physical Therapy would lay her flat in the bed and work on her rolling from side to side. She can't roll over all the way yet because of her trach and stomach prolapse where the G-tube site is. They first had her turn her head by getting her attention with her circular mirror and moving it to the other side, then giving her a small nudge. She kicks her legs so much and if she kicked in the direction that they wanted her to roll, the momentum of that leg would roll the rest of her little body. The Buddha belly helps too! They also sat her up straight and held her head up or would scoop Emma with the therapist's forearms against her back and then she would lean back so Emma was upright more. She fell asleep during that part on Thursday. One day (they have come twice a week) they brought a baby table that they were able to lean her over on to stretch out and work different parts of her body since Emma is almost always on her back or left side. A couple times per week she gets tummy time, which is completely safe due to her breathing through the trach. 
Occupational therapy came in on Monday and Friday this week. Yesterday she worked more with sitting up and rolling Emma on her right side. That side is a little weaker due to the right upper side of her lungs not working well. She did some massage type moves to help relax Emma's shoulders since she tends to hold them high. The therapist also laid her on her left side with a roll under her armpit so she could learn that she needs to support herself with her arms. Then she laid on her stomach with a roll under her chest and held her head up while working on tracking with bells. Emma has tolerated the therapies very well when she's not falling asleep. Or pretending to fall asleep. Sometimes she seriously opens her eyes once the therapist walks out the door.
The speech therapist gave us a nifty tool like a toothbrush to help get Emma used to having objects in her mouth such as a spoon in the future. One side has raised lines and the other side has bumps. We just have to practice with it in her checks, on her tongue, and against the roof of her mouth. Michael and I have done it twice for a few minutes without the therapist and Emma did great! She even laughed a little bit. Tonight I practiced her sucking on a pacifier that was dipped in formula and she held her cheeks together and chin up as instructed which helps her mouth get the swallowing reflex. I wondered recently if Emma's swallowing reflexes have improved at all, so the speech therapist in Michigan says we can do more trials for it next month when she's healed from her surgery. 
Everyone will try to come back on Tuesday (the 26th) for one more round of therapy since Emma is having her big surgery on the 27th and won't be able to do anything for a few weeks -or more?- after that. She's a fighter though so I bet she'll be back to smiling and kicking her legs around by that weekend! The Mott Children's Hospital also has Cupcake Therapy every Friday! But really it's just an excuse for everyone to decorate and eat cupcakes. We've done that twice so far. ;)