Brinley & Porter

Brinley and Porter on Sunday afternoon, July 29.

Update on Porter

 “Porter Rockwell” (name some of the nurses called him sometimes) has been back home for a week now and is acclimating himself to family and home to the best of his ability. While in the hospital, he was observed every few hours by a clinical/research neurologist who determined that Porter needed to start a new medication to deal with spasticity in his muscles. When this boy gets crying, he stretches stiff like a surf-board and nothing is bending him. So we are hoping this medication (Baclofen) helps with that problem.

 Before leaving PC Hospital, Porter was re-evaluated by a lot of smart people who said, “I don’t know” to Thom and Abby quite a bit! In fact, several of the neurologists are not convinced what the problem really is! He doesn’t fit any mold that any of them are aware of. He is like a potpourri of little issues that don’t equal into one diagnosis…so the mystery continues.

Anyway we are finding some things out about Porter:

• He likes his mommy to hold him.
• He has no problem crying for 2-3 hours without stopping.
• He loves warm baths.
• He enjoys the battery operated massage spider on his back.
• He really likes Brinley’s high sing-song voice greeting him in the morning and reading him stories in the afternoon.
• He loves his daddy’s strong hands, especially when they rub the top of his head.
• He is now quite proficient at pulling his tube out, so he gets to wear fingerless gloves!
• He likes being rocked in the new chair from Great- Grand-pa/ma Bandley.
• He really likes car rides and feels safe and secure in his car seat.

Porter after his bath

In the meantime- and in the next few weeks-Porter will travel to various counties, visiting numerous specialists, who hopefully will assist us in our quest to give him the best possible future.

We also continue to be overwhelmed by the generosity, kind words and actions of many, many people.

We thank- and love all of you!

Grandma Cindy

A Five Day Homecoming

Porter arrived home to Lehi, Utah on the evening of Thursday, July 12. We were all so excited and Porter seemed to share that sentiment for a few hours before settling off to sleep for the night.

Brinley, Thom and Porter on Homecoming day.

Abby and Thom got all set up with the feeding pump and other necessities to live happily ever after. Problem is, when Porter woke up the next morning, he started crying- screaming at times- and wouldn’t stop until he wore himself out and went back to sleep. This pattern continued all day Friday, Saturday, Sunday and Monday. He would cry hard for 2-3 hours, sleep, cry, sleep. He didn’t have one moment of contentment except when Thom put him in a little bath of warm water on Sunday evening. Abby and Thom were exhausted trading him back and forth and the hope of comforting him was fading by the moment.   

Monday arrived with Thom heading to work and Abby about ready to lose it- mentally & physically. Sarah was there to help, but Porter seemed to get worse- not better. After a pleading prayer to the Lord for help, a doctor from Primary Childrens' called to say that blood/spinal fluid tests had come back which indicated more problems (and hopefully answers) for Porter. They had discharged Porter thinking the tests would take up to 3 weeks to get back, but in a miraculous way, they got back in 6 days! 

Primary requested that Porter come back to the NICU as soon as possible to be treated by a world-renowned neurologist specializing in neurotransmitter disorders. So, Porter has been admitted back to the hospital and a whole new team is taking over his care. He is back to where he started and we are anxious for answers to cause, effect and treatment for our little guy.

Thank you to everyone for your faith, prayers, visits, positive energy, sharing thoughts & talks, and yummy food. These kind acts of service mean the world to all the family and we love you for it!

Update: Tyrosine Hydroxylase

July 6, 2012

Porter anxiously awaiting his swallow test.

Porter spent his first Independence Day at Primary Children’s Hospital and today is 4 weeks old. Every day there seems to be something new to think about and test for, and the emotional roller coaster continues. We were so happy with the fact that Porter was sucking and swallowing from a bottle, but those hopes were dashed when we discovered he was aspirating milk into his lungs. Consequently, the oral feedings discontinued and he was back to the NG tube only while they allow the area to rest and medication is given to stop acid reflux.  He will have another test to check his swallowing next Monday.

In the meantime, Porter has started to exhibit neurological behaviors that make caring for him difficult. Any kind of stimuli seems to start a wave of body arching and posturing (changing diapers, moving, picking him up).  For several weeks we didn’t hear a peep from him except for periodic sighing, but now he is crying a lot and nothing we do seems to comfort him.  Once he is settled, he likes to be held with his knees tucked under him. He seems so peaceful while he is sleeping.

A few days ago, the goal of bringing him home was in sight (depending on the outcome of the next swallow test) and while we were waiting for that to take place, he would start evaluations with rehab and PT specialists.  As of today, that view has changed because the numerous tests -on blood and spinal fluid done in the first few days after birth- have started to come back and there are some interesting developments.

Doctors have found that Porter is deficient in Tyrosine Hydroxylase and they don’t know why. Is it because of the brain damage? Or is the brain damage responsible for this condition? Either way, they are doing more testing- including genetic testing on Abby and Thom. Doctors want to see if they both carry recessive genes for this very rare disorder. Presently there are only 30 known cases in the world. More probably have it, but have not been officially diagnosed.The fact that the ischemia in the brain impacted the basal ganglia  is the most likely answer- but who knows? The good news is that in most cases, this is treatable, and if successful, it would make Porter’s quality of life a whole lot better. Definition of TH:

Tyrosine Hydroxylase (TH) deficiency (also known as Recessive Dopa- Responsive Dystonia) is a rare metabolic disorder characterized by the lack of the enzyme involved in converting the amino acid tyrosine to Ldopa. TH is a critical enzyme in normal dopamine production. Lack of this enzyme means neurotransmitters are blocked from signaling one another appropriately. The neurotransmitters dopamine, norepinepherine epinepherine (collectively known as catecholamines) and serotinin are deficient in the central nervous system and periphery.

Patients with TH Deficiency can develop movement disorders, autonomic symptoms (blood pressure instability, temperature irregularities), extreme irrabnormal eye movements and neurological impairment.

So we will cross our fingers and hope that the pharmacists can compound a special medication to help restore normal dopamine levels. Dopamine itself cannot cross the blood-brain barrier directly and so it is necessary to treat with a compound called L-Dopa in combination with another medication called carbidopa. There is an adult version of this combination called Sinemet (which is used to treat Parkinson’s disease), but the doses on that are way too high for Porter.

So far, Porter is dealing with two major problems: HIE and TH. We are finding that patience is the name of the game- and if you are a Tullis, patience is not something that comes easily. (The Lord is always ever ready to teach us – isn’t he?) In the meantime, they will treat Porter’s muscle discomfort with Tylenol and we will continue to pray for peace in our hearts.

Posted by Grandma Cind