What it takes.

Ever wonder what goes into that tube of Martha's?

Martha has been on an elemental formula (Neocate), since she was three months old. Elemental means that the food is already digested and broken down. Why she's on it is still somewhat of a mystery.

Martha went from breastmilk to several kinds of thickened formula. Then something so severe happened with Martha's digestion that it put her in the hospital. She began vomiting after every feeding so that it would block her airway. I couldn't take her out of my sight. I carried a bulb syringe in my pocket to clear her airway when the formula would come up.

Sometimes, if I left the room and came back, I'd see Martha drowning in her own secretions, turning blue. I'd tip her upside down to let the formula drain from her nasal passage. I'd stick the bulb syringe down her throat to get her to gag enough to vomit.

I had the steps to infant CPR taped on my fridge.

Shortly after that, she started having diarrhea with the vomiting and developed an aversion to eating. She lost weight and was diagnosed with Failure to Thrive. This is when she was hospitalized for the second time and put on Neocate. Neocate works, so there hasn't been a lot of investigation into what exactly caused her issues .

The problem with Neocate is that even though Martha's doctors consider it medically necessary, Martha's primary insurance won't cover it yet. We're in the process of appealing that decision. Thankfully, Martha has Medicaid as a secondary insurance because of her chromosomal abnormality. Where this gets tricky is how the funds for Medicaid are distributed. Because Neocate is an infant formula, and because of Martha's age, Medicaid will not cover Neocate either.





Do you know where the funds for infant formula are funneled for Medicaid?

The WIC Program.

Do you understand what that means?

It means that every month I have to go to the Public Health Office at the county, give personal information to the Public Health Office, and get nutritional counseling for my daughter (who does not eat), as well as have her weighed and measured.

It is astonishingly humbling.

I need to be careful now, because I have no intention of complaining about the WIC office. Truthfully, they have been incredibly kind to us. They want to help Martha, they are here to help her, and I'm thankful. The people in this particular office have an uncommon amount of understanding of what it takes to care for a special needs child with a feeding tube and seem to really appreciate the effort we're taking. For that I'm grateful.

Why go through all of this, you might ask? Why go through the extra phone calls to order formula, paper work, blood tests and weight checks? One. More. Thing. To. Do. One. More. Step. To. Manage. 

One...more....appointment............

Is it worth my time? The headache? The humility?

There is a very good reason why our private insurance is trying to milk every month they don't have to pay for Martha's Neocate.

It's because it's incredibly expensive. In fact, it's more money to feed Martha in a month than the entire rest of our family. It's like a mortgage payment. And as she requires more nutritionally, she will require more formula.

(Pantry closet with an extra "Mic.Key Button," box of Neocate, and box of formula bags)

Acquiring Martha's formula is indeed one of the more stressful things I need to do for her. She's only allotted so much per month. If I don't have Martha's formula, Martha can't be nourished. Neocate is hard to supply, and only certain pharmacies and medical suppliers will stock it. If we run out, it is very serious. A baby who is unable to eat and a mother who relies on others to make sure her formula will be available is one of the heavier responsibilities I carry. If I could go out and buy all the inventory of Neocate available, I would, but it just doesn't work that way.

Of course, the natural solution to this is to teach our Cosita to eat. In time. I have some hope.

Kids in the Fall.

The Fall in MN is too short. Autumn isn't humid, there aren't mosquitoes buzzing about, and it's still not too cold to enjoy hours outdoors. Which is exactly what we've been doing this week. 

(Same shirt, different day. Can you tell it's a favorite?) 

Considering the nice outdoors, I asked Luke to take a picture of Martha Mary and me. 

That never turns out well. 

 Luke, this is how it's done. Let me show you. 

 See how well I took that picture of you and Martha, Luke? You do the same thing as me. 

Your turn, Luke...

Um, I guess it's a little better. 

Luke, could you please get a picture of Martha Mary and me. Where you can see BOTH of us? Multi-step instructions are indeed a challenge for every seven year old boy. 

There 'ya go, buddy!

Martha's really enjoying Flannery O'Connor these days. Never one to let a severed head damper her fall fun.

 We managed to get three walks in yesterday. We'd better get a move on that record today!

Transformation

I was taking pictures of my 4.5 year old, Paul, the other day, and thinking, "Wow, he's really cute. I can't believe how darling he looks!

Can you believe my strapping, handsome young fellow, who was nearly born on the side of road, went from this...

(Paul at 3 months old)

To this...

Paul at 4.5 

Paul's first several years were a challenge, but when he turned four, there was a noticeable change. He learned to talk well and express himself in words before his emotions got away with him. He developed a sensitivity towards others that made him a magnet for other children and making friendships. In the middle of two very concrete and literal boys, Paul is able to teach these boys to play, actually play. A toy which seemed useless suddenly becomes essential once Paul puts a name and a purpose to it. It's a skill, indeed. 

He's as unrecognizable in photos as he is in temperament. 

(Paul at 8.5 months old)

Paul has my heart in a very specific way. It might be because he loves me a lot, or that we're both "middle children." This picture of him falling asleep reading National Geographic with a kickball might explain things, too.

 I try not to project how each of the children will be or what they'll do. I pray they do what God asks of them. But with Paul I have a distinct feeling about him being a natural leader. It's a tall order for our smallest child, but it's been a pleasure to watch his transformation. 

What I Know For Sure: Development

Martha is globally delayed. Every cell of her body is affected by her syndrome; each cell carrying an extra piece of 8th chromosome and a deleted end of 5th chromosome. Every chromosome contains genes that give the body instructions on how to function., and the result of her condition depends on the genes that are deleted and duplicated.

If Martha had a full Trisomy 8, she wouldn't be here today. The genes contained in chromosome 8, when fully duplicated, are terminal and incapable of sustaining life. However, Martha only has a partial duplication. Additionally, the deleted material on 5q is very small. Sadly, the deletion of even very small amounts of genetic material is hugely significant. Despite knowing Martha's chromosome arrangement, the impact is not fully ascertained. I am hopeful that in my lifetime more will be understood about this area of science.

Martha is hypotonic, which means low muscle tone. For those who are hypotonic, it means they have to expend  more effort to achieve the same result. This goes for everything. Martha gets fatigued holding her head or even being held. I often have to lay her on the floor to rest. To hold a small rattle will make Martha's arms quiver with the effort.

The muscles inside her body are hypotonic, too. Her esophagus, tongue and stomach are weaker muscle groups. Every movement and breath expends more effort and is tiring. Her lung muscles are weaker. Martha's inability to eat and her difficulty managing saliva, coughing, and choking are all attributed to her hypotonia.

Doctor Fail #1. Nearly all of our doctors have been incredible, but before her diagnosis, Martha was 3 months old and in the hospital for a second time. I told an attending doctor that I was very concerned about her development. Martha wasn't smiling yet and couldn't hold up her head. She was so weak I felt like I might drop her. I was crying to the doctor. He told me, "She'll probably just be a late walker. These are the kids that don't end up being the best athletes." 

Two weeks later Martha was examined thoroughly by a doctor who later wrote that Martha was "impressively hypotonic and developmentally delayed." Lesson learned: I can only work with people who will listen and take me seriously. My standards are admittedly very high when it comes to my daughter, and I don't have any patience trying to convince anyone of what I already know. This part of my job stinks, because when it comes to my daughter's care, I feel much like Mr. Darcy. "My good opinion once lost, is lost forever." 

At 9 months old, Martha can roll from side to side on the floor. She can hold her head up but tires. I can hold her upright in my arms for a short time.

She cannot lift her head off the floor when on her tummy, or roll from her tummy to back. She isn't able to laugh yet or make many sounds. She just met a HUGE milestone and is now able to reach for toys.

On the opposite spectrum of hypotonia is increased tone. Martha's arms, hands and feet display increased tone. Her hands are fisted and her toes are curled. She moves her extremities in a more fitful way. Often, to have her to hold a toy requires us to pry open her hand. When she drops a toy, it's simply gone for her.

I could go on and on about her development, but to be brief, she is much like a 3 month old, with the exception of the skills on her tummy, which are like a newborn. On a positive note, she is very engaging and aware. Her smile is gorgeous and her temperament is superb. I call her "Mommy's Joy." She might grow up thinking "Joy" is her name.

Written out in such a matter-of-fact way can seem grim. Trust me, it's not. Reading and rereading this myself sounds harsh when presented as fact, but the reality of it isn't bitter. This is just who she is, we aren't bothered by it. If I wrote a synopsis of my own life: "Mallory doesn't work, Mallory can't play golf, Mallory is mildly proficient at piano," it doesn't sound very encouraging. It is what it is. Martha will do a lot of things, but they will be on her timeline...not that it matters.

Babies who develop normally gain skills SO quickly that it is easy to miss their importance. For instance, Martha does not bring her hands together (midline) and clap. I couldn't tell you when or if my other children did this, because in the scheme of skills they were gaining, it wasn't on my radar. I've now learned, these small intermediary skills like clapping, or transferring a toy from one hand to another, play a huge role in brain development. These skills are so vital that Martha is getting therapy to be taught these skills that come naturally for most people. There is a lot to learn, but we take it in pieces.

Have a great weekend, everyone.

Homeschool History.

We learned about nomads today. 

The boys are outside collecting sticks for spears, and digging up tree roots to store for the winter. 

Their clothes are covered in burs from the woods, which they are throwing at squirrels trying to capture to put into their nomad stew. 

This is what learning through play look like. I love every minute of it. 

What I Know For Sure: Health.

Martha nursed just over 3 weeks when she was ambulanced to the St. Paul NICU with pneumonia. She was diagnosed with a feeding dysfunction and put on a thickened formula. She had an echocardiogram done for a murmur and was diagnosed with a Bicuspid Valve (minor issue). The cardiologist mentioned something to me in passing about a link between a bicuspid valve and something called "Turner's Syndrome," even though Martha had no symptoms of Turner's Syndrome. Doctor Triumph #1: The cardiologist was the FIRST doctor to suggest that Martha's eating dysfunction and heart variation were not in isolation. Smart doctor. 

At 3 months old Martha was hospitalized in St. Paul again. She was choking on her thickened bottles, and was refusing to eat. I asked the attending doctor to run a chromosomal analysis to possibly diagnose Turner's Syndrome, citing the cardiologist's comments. The pediatrician agreed to run the test. Doctor Triumph #2: The attending doctor listened to my concerns and wishes for a chromosomal analysis. She acknowledged that I had four children and had troubling instincts about my daughter. Thank you, Doctor. 

The test took longer than the length of admission, and Martha was discharged weaker and weighing less than she had nearly a month earlier. At this point I knew without a doubt something was wrong. I believed I was taking my daughter home to die. 

Martha's chromosomal analysis came back significant. We saw a geneticist, a genetic counselor, had further tests and further visits to receive Martha's diagnosis of an Unbalanced Translocation 5;8. We were told that Martha would fall into the "moderate" category of symptoms. She was noted to have several facial features consistent with chromosomal abnormalities. 

At five months old Martha was placed with a gastric feeding tube extended into her jejunum. She is currently on a continuous, 24-hour a day feed. She has a pump in a backpack we carry around with her all the time. 

~Martha has severe eating difficulties and GERD to the point where she is unable to take anything nutritive by mouth. 

~Martha is sick frequently with serious respiratory infections. It takes a cocktail of breathing treatments, steroids and antibiotics to keep her from being admitted to the hospital. She has averaged 2 illnesses a month.

~Martha had a CT scan and MRI of her brain and spine to rule out hydrocephalus. Her head is abnormally large (macrocephaly) with extra fluid. The extra fluid isn't causing problems at this time. 

~Martha has an abnormal brain. I'm not ready to discuss what that means.

~Martha is "impressively" hypotonic (low muscle strength)

~Martha has a Cranio-Cap to correct her misshapen head. She developed plagiocephaly from her crib positioning and low muscle tone.

Pediatric Specialties Currently Following Martha

Gastroenterology

Pulmonology

Cardiology

Physical Medicine 

Genetics

Ophthalmology

Neurology

Plastic Surgery

Neuro Surgery

+Primary Care and Pediatrics

As time goes on, we are hopeful this list will get reduced. We may need more specialties added, but I'm keeping this post to things I know for sure.

Martha is at risk for several disorders. I have been told that she will require close following by multiple physicians until these disorders can be ruled out, which at this point in her infancy, they can't be.

Here is a little peep of my sweetheart just as she's waking up in the morning. Just look at how beautiful she is! Miss Martha Sunshine! My apologies for the quality of this video, the dimensions aren't right. It's Monday morning and I'm tired. I'll work on it and see if I can improve it later.

i dont do

Let's all clear the air here (in case you didn't already know), that this Mama is not crafty.

In fact, there was a point last year when I threw every last marker in our house away. BANNED! Forever! Paint, clay, and all the rest, you ask?  I laugh. You think I'd let that in my house? The last stash of play-doh the boys got in their Christmas stocking was probably all thrown in the trash by New Year's.

I'm really mean like that. I'm so not even joking.

I have this friend in real life who is ALSO a blog stalker. This is a big deal. She goes by "Karen" on the blog. I'll leave her real identity a secret. She has markers at her house. And pant. And glitter. 

Horrors.

Because she knows how deprived my children are, she generously is sharing her craft plans with me. Baby-crafter over here literally needs someone to photo copy craft plans, arrange the plans and supplies in separate folders, and then hand deliver them to my door. Karen is sweet. She is also a craft enabler.

On Monday the older boys did a craft. Sunday was the Roman Catholic church's celebration of the Virgin Mary's birthday. We made birthday cards for Mary and put them on the mantle.

Because I had a total breakdown on Labor Day and went to the store and bought all the necessary school supplies to put our boys in the public school, I accidentally had markers in the house. They were surprisingly useful.

All jesting aside, it turned out to be a beautiful activity. It was only coloring, cutting and gluing, but a step in the right direction. Pipe cleaners next week? One can hope.

That Hot Mess.

Martha was diagnosed with her syndrome in March, and then hospitalized for a third time in May. We were in the middle of our first year of homeschooling a kindergartener, our middle son was about to turn four, and our youngest boy hadn't even turned two. It was a difficult Spring and we were challenged to question the plans we had so happily made for our family.

One thing we've been forced to consider is moving. We live in a rural area more than 2 hours from the Children's hospitals and specialists. We don't have access to the feeding, nutritional, and positioning experts that a metro area provides. We may have to move. We don't want to, truly. But we've been forced to at least consider it so our family can function.

The second thing we had to take a serious look at is homeschooling. Just like how I love where we live, I love homeschooling, too. But we've had to reevaluate everything we thought we were going to do.

I will admit  that deciding whether or not to homeschool this year was one of the most difficult things I have ever questioned. Trying to make the right choices for your children carries with it such an incredible pressure that it actually weighed my heart down. For the better part of two weeks I was brought to tears thinking about the subject.

The children are home. For now. And it's going quite well. We get up early in the morning, and get started and finished before the distraction of Legos and weapon-building commence.

But there are multiple phone calls interrupting our happy learning. I wake up sleeping babies to run to therapy and appointments. I have to rearrange every day to fit that day's agenda. It's a lot to manage. Some days I am prepared to take the pressure of educating my children off of my shoulders and delegate it like I have needed to with several other things in our life. I want to live my ideal, but at what cost?



If the days that don't work take over the ones that do, the school down the road is ready and waiting to accept them. I will honor that. It might be too much. I can say that. I may need to focus on a different child's needs that only I can provide, and let someone else work on the reading and writing. I don't want to, but I will.

Thankfully our family has an army of supporters at our back, each giving us the encouragement we need. Some are my cheerleaders and support every decision we make because they know we are putting our children first. Others know my heart and can empathize with my blubbering ramblings. There is no judgment. I'm a hot mess when it comes to this schooling business, and I'm always so thankful when a friend or family member let's me pour it all out to them. They're amazing, regardless of the decisions we end up making.

Our family doesn't see putting a child in school setting as a failure, or even less-than-desirable. It's just that...for us, we want the kids home, to have our family function in this particular way. To give that up, well, would be difficult, just like moving would. But we also see educating our children as an incredible responsibility. In fact, as one of our greatest responsibilities. And so, if at any point our wants conflict with our responsibilities, we will choose the latter. When that day will come, I'm not sure. Anytime between now and college, which leaves a lot of years for wavering.

I believe this pull of my heart will never go away and I will constantly wrestle with trying to do the "right" thing for each of the children. This year brought a full house, but also a different deck of cards that I hadn't planned on playing. Every option must be considered, and prayed about ultimately. Our daughter is already taking part in the school system (more on that later), and that impact alone requires constant evaluation with how that impacts the rest of our family. It will change our plans, and maybe even our ideal.

Is This Thing On?

I left, I know. For months.

And so much happened.

Oh my goodness. So much happened that when I look back over the years of this blog, the early mothering, toddlers, adjusting to little sleep, all the petty complaints, moving, moving, and more moving, and decisions over schooling and places to live, so little did I know.

But then a few months ago it all came to me.

That every struggle, fight, and tear all had a purpose. Looking back at each pain from every year of my memory, it was all orchestrated, all put into motion; it was all planned. Not one trial from my childhood onward has been in vain.

It was all for this.

Martha Mary is now 9 months old, and I see it as no accident that I stopped blogging shortly before her birth.

Life now is different. How different?
There once was a certain life. There were our childhoods, our schooling, college, marriage, family, and children. Years passed, and then she came along. Now there is now only before and after; a BC and AD of our reality.

Because when you have a daughter who is diagnosed with an Unbalanced Translocation 5;8, and from all accounts and records, she is the only person on the planet with their chromosomes duplicated and deleted in this way, your life is shaken upside down.

If you know anyone out there with a missing 5q.35.3 with a duplicated 8p21.1-23.2 attached to their 5th chromosome, I would travel the world to find them.

Thankfully, she is our JOY. She is our purpose, she is the gift we never thought to ask for.


But it means I'm a Googling monster. I've mastered the art of PubMed searches, and have read every link and journal associated with "Partial Trisomy 8" "8p Duplication" and "5q deletion". The list of diagnoses  and symptoms is extensive. There's time for that later. I'm only just introducing you.

I'm not sure what this blog can do anymore. Like me, it can't be the same. There is no going back. The edges are raw, the pain is too visible and the fatigue wears like a heavy coat. There are tears over the unknown, and tears yet to be shed over heartaches that have happened months ago.

Is there a place for our new life on this blog? Our life is so happy, but it can be hard. Nothing about this beautiful girl causes us sadness. Nothing. But there is so much extra. There is therapy, teachers, people in our home all the time. There are appointments, more therapy, doctors, doctors, and more doctors with sub-specialties I never knew existed.

Let's not leave out the seating specialists, feeding specialists, nurse-coordinators, orthotists, special education classes, support groups, medical supply, feeding tube clinics, nutritionists, dietitians, and oh goodness, I may have just lost you...

But it's never enough. There are no easy answers, and often there are not any answers. There is nothing but an endless string of appointments, follow-ups, and watchful waiting. And do you know what that means?


I'm frustrated all. the. time.


There's time for all of that later, too.

And then let us not forget my Little Men

I couldn't ask for sweeter, more caring sons. These boys hold me together. They are fun, imaginative, affectionate, and keep me moving and ALIVE.

I shall dub this one Strong Father, Strong Daughter.


What will this blog be about? I'm not totally sure. I'm beyond worrying about recipe disasters and the moral obligation for cloth diapering. Seriously you guys, I'm so far beyond that now.

But I don't want to blog about all about my frustrations either. I don't want to blog about being let down; disappointed with those whom I expected more from. I don't want to be "that" mom who compiles a list of what or what not to say to a mother of child like mine.

Really? Do I have to get into it? "No, your advice is not helping me in this moment, and your concerns and questioning do not help me." Am I really going to be that person? The angry one who keeps getting burned and develops a great tolerance to heat but also avoids the fire altogether?

I may not be able to avoid it. I may just get very, very honest. And maybe a little sharp. A little sassy.

Which is hard for a Minnesotan, ya' know. We just don't come out and say it. 


But I love. I really, really do. And maybe love means being a little more honest...and a little sassy sometimes.

I'll do it for her. I'd do it for all of them.

+FIAT+