Busy Day

Today we talked to our specialists, social work, and care management about discharge planning: how can we all get home for quality family time with Gabriel. We also decided to celebrate his life, and focus on living well for all of us. Sunshine, music, outdoors. Eleanor went with grandma to the Meijer Garden again.

Gabriel had a one-hour sprint off the mask. A volunteer photographer visited and took beautiful photos of Gabriel with mama and dada; Gabriel had open eyes and seemed to enjoy it. He made a few gurgles that may have been coos.

After this, we had a family time and sang "Circle of the Sun" and he watched with wide eyes. A music therapist also visited and recorded his and our heartbeats; she will use his heartbeat as the rhythm and play a song of our choosing over it. How special!

Following Gabriel's Lead

Gabriel did a short time off the mask ventilator, but not a long sprint. We want him to be comfortable. We are following his lead-- he will tell us what he can do.

We got sad news from the two studies that he doesn't qualify based on how early his symptoms started, and the support he needs now. As I said above, Gabriel is leading.

A Day for Rest

Gabriel saw the occupational therapist, who wanted to re-make his wrist splints. It's a little larger and deeper, and looks like a one-sided boxing glove. Our Mighty Gabriel.

The PICU doctor and we decided that the sprints were causing him to work hard to breathe, and made him more tired; so today he rested.

Longer Sprint Trial

Gabriel's goal was a 5-hour sprint on the nasal cannula. He didn't do as well, with a little saliva in his airway and he needed to get that sucked out. He was breathing harder and we ended the sprint at 4 hours; he needed rest after. His blood gas showed that he wasn't exchanging oxygen and carbon dioxide well during that time. This made us sad.

Two friends stopped by to share some time with Gabriel, and he opened his eyes a little at the end of their visit. He is beautiful.

Waiting

We saw all our teams again. Mama was focused. The teams were going to talk to the two treatment studies about Gabriel, and what our breathing goals needed to be for him to be able to participate. We are just waiting.

Gabriel did one 4-hour long sprint and did well. At the end, he was mad and silent- crying, but that was about a dirty diaper (he hates poop) and we were reassured that this is normal baby behavior.

Grand Rapids

We returned, bringing Eleanor with us to live in Grand Rapids as a family, albeit with one of us in the hospital. Gabriel was stable, and did two 2-hour sprints like a champ. The goal of the sprints is weaning him off the ventilator so we could possibly get out of the hospital and maybe go to the study.
He had eyeball time with mama holding him.

Possible Drug Trials

Gabriel continued his sprint trials. We talked to a doctor about a possible treatment in a drug trial in Columbus; it actually inserts a new SMN1 gene into DNA; however he is not ready because of his breathing issues; he needs to wean off the ventilator. We were told to also look into a study in Chicago.

After Gabriel's sprint we wrapped him up and kissed him and went to Portage to see Eleanor and reconnect. So hard to be away from either of them.

The Diagnosis

Gabriel was stable, and we planned more "sprints" on a nasal cannula to see if his muscles are strong enough to wean off the ventilator support.

We were told the the lab test would take 2 weeks, maybe longer; the idea of waiting was agonizing. But today the test result came, confirming Spinal Muscle Atrophy (SMA). We had a long meeting with our team, to talk about SMA symptoms, course, and prognosis. Briefly, SMA happens when we are missing two copies of a gene that makes a protein to keep peripheral nerves (ones from the spine to the muscles) alive; without these nerves, the muscles get weaker. It affects all muscles, starting with arms and legs and later affecting breathing muscles. The brain and senses are normal.

You can read more about SMA at http://www.curesma.org or https://www.mda.org/disease/spinal-muscular-atrophy

Papa and Bubby visited to see Gabriel. We parents fell asleep early and hard.

Sprinting

Gabriel had some time with Aaron, who held him. Gabriel wore a nasal cannula, to take off the bionic mask and give his nose a rest from the mask; they call this a "sprint." Jo took Eleanor to the Meijer Garden to run around; the Children's Garden had a beaver dam to climb in, sandbox, and sculptures. Eleanor asked a few questions about Gabriel; that was tough.

Skin 2 Skin

We talked to Early Care, which from our understanding focuses on keeping the family intact in the setting of chronic illness. Just what we need. Gabriel was stable and Jo held him skin to skin for a while.

Conversations Continue

Aaron held Gabriel in a chair during the time off the ventilator. It went well. There were more conversations.

Our Brains Hurt

It was a big day, a tough day. We talked to six groups (pretty much our whole team). There is so much we have to think about for Gabriel's comfort and care. We talked more about SMA. Our brains hurt after.

Bath Time

Gabriel got a bath with a really nice nurse. He had just a little time off the ventilator on nasal cannula with high flow oxygen and he slept on his tummy a while, then on mama. Nice. But he had an episode and needed to be back on the ventilator for rest.

Visiting with Uncle Peter

Gabriel's uncle Peter visited. We touched him and changed diapers and Peter showed us his magic baby soothing skills (rubbing the forehead/third eye area).

Explaining it to Sister

Gabriel was more awake, and he started a temporary feeding tube into his intestine (jejunum), but still getting breastmilk. Eleanor visited her brother today. We missed her! Mr Russ, a new friend from Child Life, helped us introduce her to the whole situation and assess how she would handle it; she was good, and was more interested in the machines in the room and the big windows.

Possible Diagnosis

Aaron and Jo drove in the early morning hours to meet Gabriel in the PICU. He seemed to be doing better and was able to breast-feed and swallow ok, so we went upstairs to the Step down Floor. We continued feeding and nursing and touching and talking to him on the bed. He was weaned off oxygen and IV fluids stopped. But the next day he looked so tired.

We talked to a hospitalist, neurologist, and geneticist. There was a possible diagnosis of Spinal Muscle Atrophy, and that was best to get first before anything else.
He had another episode and we moved back to the PICU for rest on a noninvasive ventilator. He got a mask and a bionic helmet. He gets a constant flow of air to keep his airway open (CPAP) and occasional breaths of more pressure (IPAP) to reduce his work of breathing. We hoped he had more energy to then get off the ventilator and maybe go back to eating.

Going to the ER

Jo was holding Gabriel, when his lips turned blue, we brought him to the ER, and dropped Eleanor off at Aaron's parents house. We half expected (hoped) that the ER staff would send us away as overly nervous parents. They didn't. With retractions (using extra muscles to breathe), he needed to be watched by specialists at DeVos Children's Hospital in Grand Rapids.

Instead, Gabriel had another episode just as the transport team arrived; he flew by helicopter to the pediatric intensive care unit (PCCU). We followed by car and arrived just as the sun was rising.

The Story Begins

Our beloved son Gabriel Anthony was born on June 24 of this year.

While he was indescribably beautiful at birth, and in most ways very healthy, we did notice almost right away that something was unusual. He was hypotonic, a fancy word for floppy. He had very low muscle movement tone and very weak grip.

Mysteriously, he displayed none of the other symptoms that usually accompany such hypotonia. He "scored" well on all the scales, and nursed well. His bowels were more than functional.

As a precaution, the doctors kept us in the hospital for a couple extra days as they performed blood tests, urine tests, and even an MRI. Everything came back normal.

Aaron's mom recalled that he too was a "floppy baby", but grew out of it. We hoped that was all it was. The doctors sent away for some more obscure tests, but sent us home rather than wait in hospital.

For a couple weeks, all was fine. We snuggled, and nursed, and went outside to walk and to our lake beach. He was growing well, an ounce a day.