Rare Diseases
Commentary
by Darshani Sukumaran
Having a child with medical issues is uncharted territory. Most parents do the best they can. They have to balance their child's physical needs with their emotional needs, and that is often impossible. Parents find themselves putting out fires all around them as new health issues flare up. The child's emotional needs are put aside for the time being.
As the child's health becomes more stable, parents ask, "Where do we go from here?"
I made a big mistake in raising my children to live with their conditions. It was a mistake made with the best of intentions. I thought that if I raised them to see their conditions in a positive light--that they were extra special because of those conditions--it would be easier to cope. I was wrong.
This Month's Focus: Rare Diseases
Pediatric Neurotransmitter Diseases
by Anne Berleman Kearney
You probably do not know
much about pediatric neurotransmitter diseases (PNDs); not many do.
But it is possible that many undiagnosed disorders in children are
pediatric neurotransmitter diseases.
The term "Neurotransmitter Diseases" is an umbrella term for rare genetic disorders that affect the functioning of central nervous system neurotransmitters and the metabolism. Neurotransmitters are chemicals that permit the passage of signals within the brain. Many neurotransmitters within the body work together to regulate motor coordination, behavior, temperature, pain mechanisms, and blood flow. A commonly known neurotransmitter is dopamine, a deficiency of which is associated with Parkinson's Disease.
Read More -->The term "Neurotransmitter Diseases" is an umbrella term for rare genetic disorders that affect the functioning of central nervous system neurotransmitters and the metabolism. Neurotransmitters are chemicals that permit the passage of signals within the brain. Many neurotransmitters within the body work together to regulate motor coordination, behavior, temperature, pain mechanisms, and blood flow. A commonly known neurotransmitter is dopamine, a deficiency of which is associated with Parkinson's Disease.
PHACE Syndrome
by Cristina Camacho
At four weeks old, our baby girl, Elyse, was diagnosed with PHACE Syndrome, an uncommon condition that wasn't even known until 1996 when Dr. Ilona J. Frieden, director of Pediatric Dermatology at UCSF Children's Hospital, and her colleagues first used the acronym PHACE to describe it.
The word PHACE is an acronym that describes these symptoms:
P Posterior fossa malformations (brain malformations)
H Large segmented Hemangioma (mainly on the face)
A Arterial anomalies of the head and neck
C Coarctation of the aorta and cardiac defects
E Eye anomalies
Read More -->by Cristina Camacho
At four weeks old, our baby girl, Elyse, was diagnosed with PHACE Syndrome, an uncommon condition that wasn't even known until 1996 when Dr. Ilona J. Frieden, director of Pediatric Dermatology at UCSF Children's Hospital, and her colleagues first used the acronym PHACE to describe it.
The word PHACE is an acronym that describes these symptoms:
P Posterior fossa malformations (brain malformations)
H Large segmented Hemangioma (mainly on the face)
A Arterial anomalies of the head and neck
C Coarctation of the aorta and cardiac defects
E Eye anomalies
Joshua's Journey with Shwachman-Diamond Syndrome
by Tania Nelson
Shwachman-Diamond Syndrome (SDS) is a rare bone marrow failure syndrome that mainly involves the pancreas, bone marrow and skeleton, but other organs may also be affected. It is a genetic disorder that affects one in 75,000 people. Primary to SDS are hematological abnormalities, usually a decreased number of at least one type of blood cells, most commonly the white blood cells called neutrophils. Many SDS children have more than one blood cell line affected, while some have all three blood cell lines affected: the white blood cells, red blood cells, and platelets. Neutropenia, or a low neutrophil count, is the most common hematological abnormality found in SDS.
Read More -->by Tania Nelson
Shwachman-Diamond Syndrome (SDS) is a rare bone marrow failure syndrome that mainly involves the pancreas, bone marrow and skeleton, but other organs may also be affected. It is a genetic disorder that affects one in 75,000 people. Primary to SDS are hematological abnormalities, usually a decreased number of at least one type of blood cells, most commonly the white blood cells called neutrophils. Many SDS children have more than one blood cell line affected, while some have all three blood cell lines affected: the white blood cells, red blood cells, and platelets. Neutropenia, or a low neutrophil count, is the most common hematological abnormality found in SDS.
Specialty Article
GI and Nutrition
All About NJ, GJ, and J Tubes
Some children, particularly those with motility problems or chronic vomiting, have a lot of difficulty tolerating feeds into the stomach. For these children, special feeding tubes can be placed that bypass the stomach in various ways, allowing children to be fed into the small intestine. This article will discuss the three main types of feeding tubes that bypass the stomach, Nasojejunal (NJ), Gastrojejunal (GJ), and Jejunal (J) tubes.
All About NJ, GJ, and J Tubes
Some children, particularly those with motility problems or chronic vomiting, have a lot of difficulty tolerating feeds into the stomach. For these children, special feeding tubes can be placed that bypass the stomach in various ways, allowing children to be fed into the small intestine. This article will discuss the three main types of feeding tubes that bypass the stomach, Nasojejunal (NJ), Gastrojejunal (GJ), and Jejunal (J) tubes.
Feature
Dealing with Negative Reports and Evaluations
We've all been there: your child is evaluated for school or services by a healthcare professional and you receive a report detailing your child's abilities. There, in black and white and excruciating detail, is a complete description of all your child's delays, difficulties, and faults. It stares you in the face, making what had been deniable completely undeniable.