Monday, May 28, 2012

Ataxia Telangiectasia (A-T)

Ataxia Telangiectasia (A-T)  A-T is a progressive, degenerative disease that is rare, (approximately 500 children in the US).  It is a recessive genetic disease that combines the very worst symptoms of Muscular Dystrophy, Cerebral Palsy, Cystic Fibrosis, an Immune System Disorder and a 1,000% greater chance of getting cancer than the "average" child.  Children with A-T are usually wheelchair dependent by the age of 10 and rarely survive their teens.

Ataxia (wobbly, lack of balance), choreoathetosis, tremors, jerks, slurred speech, swallowing impairments, and apraxia, just to name a few.

Examination of the chromosomes.  DNA

There are currently no treatments or therapies for A-T.  It is fatal.


Lana's Story
Our Lana is a fighter...she's had to be.  She was born into a world of domestic violence, mental illness and drug and alcohol abuse.  When Lana was 15 months old, we were successful in getting custody of her, and her little brother, Alexander.   (We are her maternal grandparents.)

We knew something was wrong due to the way she walked.  At first, the doctors thought she had Cerebral Palsy...until her symptoms worsened.  It was then thought she had Tuberous Sclerosis.  When testing ruled that out, she was tested for Ataxia Telangiectasia.  Testing proved she had this devastating disease.

She began using a wheelchair and a Dynavox communication device at the age of two.  As time goes on, Lana's symptoms progress.

An MRI of her brain last April showed that the A-T has destroyed her cerebellum...the brain matter has been replaced by spinal fluid.  Lana's immune system failed in November of last year, and now, each week we give her subcutaneous immunoglobin infusions at home.

At age 8, Lana's A-T is progressing much quicker than most, as the drug and alcohol she was subjected to in utero have exacerbated the disease.  Lana's mother, our daughter passed away of a drug overdose on June 27, 2009 at the age of 27.

Despite everything, Lana is a beautiful, happy little girl who is in the 2nd grade.  She loves school and Brownie Girl Scouts and will soon begin cheerleading with a special needs squad.

Lana has been recognized by the Texas Legislature for her role in representing the disabled children of Texas in the fight to preserve Medicaid.

This past Saturday night, Lana was crowned Little Miss Wheelchair Texas 2012 and it is our hope that  she can continue to be an advocate for disabled children.  We are so very proud of our girl!

Contributed by MOM Teri Little - to read more about Lana check out her FB Page

Monday, May 21, 2012


Holoprosencephaly (HPE) is a congenital anomaly in which there is incomplete development of the brain. In utero, the developing forebrain (prosencephalon) fails to divide into two separate hemispheres and ventricles. Specifically, there is incomplete cleavage into right and left hemispheres; into the telencephalon and diencephalons; and into the olfactory and optic bulbs and tracts. Based on the level of cleavage, Holoprosencephaly is classified into 4 subtypes: Alobar, Semilobar, Lobar and MIHV.


Holoprosencephaly can range from mild to severe and is classified into four types:

Alobar Holoprosencephaly (severe)--where the brain is not divided and there are severe abnormalities (there is an absence of the interhemispheric fissure, a single primitive ventricle, fused thalami, and absent third ventricle, olfactory bulbs and tracts and optic tracts).

Semi-Lobar Holoprosencephaly (moderate)--where the brain is partially divided and there are some moderate abnormalities; where there are two hemispheres in the rear but not the front of the brain (there are partially separated cerebral hemispheres and a single ventricular cavity).

Lobar Holoprosencephaly (mild)--where the brain is divided and there are some mild abnormalities (there is a well developed interhemispheric fissure however there is some fusion of structures).

Middle Interhemispheric Variant of Holoprosencephaly (MIHV) -- where the middle of the brain (posterior frontal and parietal lobes) are not well separated.



Contributed by MOM Maria Valencia - to read more, please check out Maria's FB Page

Monday, May 14, 2012

CHARGE Syndrome

CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family.

Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication.
Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions)
Coloboma of the eye: Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS

Choanal atresia or stenosis The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.Unilateral atresia or stenosis can be difficult to diagnose 50%-60%

Cranial nerve abnormality      
I - Missing or decreased sense of smell 90-100%
IX/X - Swallowing difficulties, aspiration  70%-90%
VII - Facial palsy (one side or both)  40%

CHARGE outer ear-  Short, wide ear with little or no lobe, "snipped off" helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric - >50%

CHARGE middle ear- Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS Common

CHARGE inner ear- Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS

Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn't perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical - based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes. They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are "Other" features - these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.

All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.


Burke's Story
Our son Burke was born with CHARGE syndrome. In the past 6 years of his life, he's undergone 8 surgeries and had multiple long term hospitalizations. Burke is a courageous, tenacious and loving little boy who has undeniably surpassed all expected "outcomes" that he was given along with his diagnosis of CHARGE syndrome. When Burke was 3 yrs old, we welcomed identical twin boys, Levi and Judah into our family. We are a bit crazy but have lots of support cause we need it!

Contributed by MOM Christina Nelsa

Monday, May 7, 2012


Polymicrogyria, means small fold of the brain.  She has bilateral Perisylvian PMG which is that it effects the sides of her brain on both sides, not all over.

The symptoms vary from one child to another, not visible from what the MRI shows but through development.

Our daughter has a motor and speech delay.  At 15 months she is very quiet and also not crawling or walking yet.  She does eat well and cognitively at a 15 month level.  Seizures are a possible symptom that we have thankfully not seen but could develop.

She had a vertical rapid eye movement at 2 months due to her brain development and had a MRI & EEG done.
Through the MRI they found the PMG.

No treatment other than working on the developmental issues utilizing PT, OT, Speech, Feeding, and Special Education through Early Intervention.


Contributed by MOM Mandy Kresge