Family Meeting
We had our family meeting this morning in a conference room close to the NICU. My parents, Stacy’s parents, doctors of various specialties, a NICU nurse and a social worker were there to discuss James, what they know so far, and what they think the plan should be going forward. Fortunately, there were a few boxes of Kleenex on the table because there were quite a few tears shed during the meeting.
When James was born, he had a 2-vessel umbilical cord. Typically, an umbilical cord has two arteries and one vein, or a 3-vessel cord. James just had one artery and one vein. The vein carries oxygen-rich blood to the baby and the arteries carry oxygen-poor blood away from the baby and to the mother’s placenta. The placenta then returns the waste to the mother’s blood, and her kidneys eliminate them. They couldn’t explain why James only had a 2-vessel cord, but they don’t believe that it has anything to do with his situation. They also do not think that the factor V Leiden has anything to do with what happened to him.
In the “Starting a Family: Take 2” post I mentioned that the ultrasound tech had a difficult time trying to get him to move into the correct positions so she could get a better view of him and get the measurements she needed. The doctors are concerned that this lack of movement during the pregnancy probably means that he might not be able to move on his own later in life. We will just have to wait and see.
James has some muscle tone abnormalities. His legs are what they call hypertonic while his trunk is hypotonic. Muscle tone is the amount of resistance to movement that the muscles in the body have. In other words, it’s how much tension is on a muscle when it is resting. Normal muscle tone is high enough to resist natural gravitational forces and pull, but also low enough to allow for ease of movement throughout all planes of motion. Hypertonia, or increased muscle tone, is a condition in which there is too much muscle tone so that his legs are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract.
Hypertonia occurs because the regions of his brain or spinal cord that control these signals are damaged. Hypotonia, or decrease muscle tone, is the opposite of hypertonia. Whereas James’ legs are still because of the hypertonia, his trunk is limp because of the hypotonia. If you were to sit him up in a chair, he doesn’t have the muscle tone to hold himself upright. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. This damage can be the result of a trauma, environmental factors, or genetic, muscle, or central nervous system disorders. It can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find out the cause. In James’ case, they believe his muscle tone abnormalities are a result of whatever brain damage occurred while in the womb.
I mentioned in an earlier post that they did an MRI on James’ brain. The MRI showed damage to the white matter of his brain, or the “wires” as they described them. The abnormalities are localized to certain areas of the brain and they don’t know what is affected by those abnormalities.
They sent a blood sample to be tested for Leukodystrophy. Leukodystrophy refers to a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord, and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can’t function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. Leukodystrophy can cause problems with movement, vision, hearing, balance, ability to eat, memory, behavior, and thought. Leukodystrophies are progressive diseases meaning that the symptoms of the disease tend to get worse over time.
They were a bit hesitant on saying what James’ quality of life was going to be like. And to be fair, I’m not sure they really knew. James does have a lot of issues that need to be managed both individually, and collectively. All of his internal organs seem to be working normally, which is good. He has a team of doctors and specialists that are working with him and us on his neurological deficits, muscle tone issues, vision problems, and the no suck/swallow reflex, etc. This is easy when he is in the NICU, but he has to go home at some point, doesn’t he? They are not ready to send him home yet and they don’t know when he will be able to go home yet. He has a lot of issues that they are trying to address and figure out. When/if the time comes for him to go home, we will work with palliative care to help us with the transition to home life. The hospital also has a home health division that will work with us and provide any medical equipment that we may need at home.
James News
The speech language pathologist came in to work with James. Stacy got to see how she stroked James’ cheek while he is eating to stimulate the face muscles and associate them with eating. She also stroked his lips and went into his mouth to stroke the roof of his mouth. When she did that today, James closed his lips around her finger and moved his tongue a little bit. This is a good sign! Maybe he will be able to eat by mouth someday.
The physical therapist came by and showed Stacy some arm and leg movements to open up his limbs and get him loose. Remember from the family meeting notes above that James has hypertonia in his legs which causes them to be tight. Hopefully these ‘exercises’ will help loosen up his muscles a little bit.
James’ nighttime NICU nurse is going to try to shorten his feeds from 3 hours to 2 ½ hours.
