CHARGE...

...is another name/acronym that I've been seeing around the Special Needs on-line world and knew very little about before starting to research this post. It is a complicated syndrome that affects one of every 9-10,000 births worldwide. CHARGE stands for:

Coloboma of the eye (see below)
Heart defects
Atresia of the choanae (see below)
Retardation of growth and/or development
Genital and/or urinary abnormalities
Ear abnormalities and deafness

This name was developed in the early 1980s when medical professionals began to recognize a group of individuals who all shared a similar array of medical and developmental issues. The acronym summarizes the issues and although some changes have occurred in diagnostic practices, the name stuck. CHARGE is based on characteristics that are common in CHARGE but rare in other conditions, and minor characteristics that are present in other conditions, are more objective or occur later in life. For example:

Coloboma of the eye (malformation, like a cleft, of one of the parts of the eye) occurs in 80-90% of CHARGE individuals, and isn't generally associated with other medical conditions. It can also be observed early in life. Coloboma is considered a major feature of CHARGE.

Heart defects occur often in CHARGE (75%) and are often complex, but may be caused by other medical conditions and are therefore considered a minor feature.

Atresia of the choanae - The choanae are the passages that lead from the back of one's nose to the throat. In CHARGE these are often blocked or closed (atresia) by a membrane or bony obstruction. This occurs in 50-60% of CHARGE individuals and is also considered a major feature.

etc...

In the end no one characteristic is considered definitive for CHARGE, and an individual affected by CHARGE may not have several characteristics that another individual with CHARGE may have. Similar to autism each individual becomes their own unique blend of medical and developmental issues.

Great strides have been made toward understanding the genetic causes of CHARGE. Mutations in one gene, CHD7, have been linked with CHARGE. CHD7 encodes a regulatory gene that turns other genes on and off. Mutations to this gene are evident in 2/3 of individuals with CHARGE, but the testing is expensive and has many false negatives, so further research is needed before genetic testing can supplant clinical diagnosis.

Often individuals with CHARGE have both vision and hearing loss ("deafblind") and since these input channels are primarily used in educational settings, learning can be a major challenge. In this respect CHARGE reminds me of one of my biggest heroes, Helen Keller. Although Ms. Keller's deafblind-ness had a different cause, the fact that she overcame these obstacles and became one of our country's most admired writers, speakers, and humanitarians. I recall shortly after confirming our daughter's speech delay I read Ms. Keller's autobiography and was greatly encouraged to never give up in seeking ways to communicate with her. Individuals with CHARGE have many challenges, but in the end we must respect their tenacity to overcome and provide the support and acceptance they deserve.

For more info on CHARGE, see The CHARGE Syndrome Foundation

Albinism

It is kind of amazing how these Saturday "primer" posts are working out. When I first started them I thought I would have a hard time deciding which special need to write about, but amazingly I keep meeting people or hearing about various conditions, disorders, etc. that become quite interesting to me. Today's post is no exception to this trend. Earlier this month I had the pleasure of meeting a young woman who has albinism or hypopigmentation. It doesn't slow her down though, literally. She runs track (sprints!) and cross-country (distance!) and I saw the rows of medals that she has earned. I learned a lot just by meeting her, and wanted to know more.

I'm sure like most people I've gotten my information about albinism from television shows and the like...I pictured a person with white skin, blond-white hair, and of course pink eyes. It turns out that is a myth. There are different kinds of albinism, and depending on which kind an individual has they may have only slightly lighter hair and skin than their family members, and their eye color can be anything from pink (rare) to light brown or hazel. Most have blue eyes. Albinism is a genetic disorder that affects 1 in 17,0000 people in the United States. The main two symptoms of albinism are vision problems that cannot be completely corrected with glasses and skin that must be carefully protected from sun exposure to avoid skin cancer. There are two broad categories of albinism: oculocutaneous albinism (OCA, eye and skin) and Ocular Albinism (OA, eye).

OCA can be further broken down into sub-categories depending on what specific biochemical pathway leads to the hypopigmentation. Most are related to a breakdown in the system that turns tyrosine (an amino acid) into the pigment melanin. There are several proteins in that biological pathway, and if any one of them breaks down, hypopigmentation will result. In one particularly severe form, at least eight different genes are affected. This disorder is called Hermansky-Pulak Syndrome (HPS) and is associated with poor blood clotting, facile bruising, and lung and bowel diseases. The mutated genes for OCA are on autosomal chromosomes (not the X or Y chromosomes) and are recessive. If neither parent has albinism, then in order to have offspring with the disorder, both parents must carry the OCA mutation and each offspring has a 1 in 4 chance of inheriting OCA.

In the case of OA, the genes are X-linked (again!) so a mother carrier can pass on the disorder to her sons with a 50:50 chance for each birth. Daughters might also be carriers with a 50:50 chance.

Some of the vision problems commonly associated with albinism include irregular horizontal back and forth movement of the eyes (nystagmus); crossed, lazy or wandering eye (strabismus); sensitivity to bright light, astigmatism, misformed retina, optic nerve misrouting, and translucent iris. Some of these issues can be addressed with surgery and corrective lenses, but may not be completely rehabilitated.

Learning all of this about albinism reminded me of my past life. I used work as a lecturer at a major university teaching organic chemistry. One of my students had "low-vision". I do not know the cause of her vision problems, but it sounded similar to the challenges faced by individuals with albinism. Organic Chemistry is a very visual subject. It helps to see the various shapes and connectivities of molecules in order to understand how and why they react. Even students with normal vision have trouble retaining all of the information and learning all of the drawing conventions. That doesn't even consider the lab work which often involved looking for color changes or other visual clues that a reaction was complete before moving on to the next step in the experiment. We did several things to accommodate this student's needs, but it took us a while to figure out the best ways to help her both learn the material and be able to accurately display her knowledge on exams. There are audio textbooks, but these seemed challenging at best to follow as someone described in pedestrian verbiage the structure of each molecule. Besides, professors often don't really teach from the textbook, so we provided enlarged copies of all of the lecture notes, and we audio-taped each lecture. For exams I would take a regular copy of the exam away from campus (risky, but less risky than on campus) to Kinkos and personally enlarge each page to the size of a poster. (You have not lived until you've learned to run this kind of photocopier...and you have not been truly stressed until you go to your favorite Kinkos to do this the day before the exam and find that their machine is out of order and they're not really sure where the closest one like it might be...then consider riding the bus to campus, crammed in with all sorts of students, with a copy of an exam that the average person could read from across the room, oh it was fun!) This would allow the student to see the exam herself rather than having someone else read it and describe it to her, but it was exhausting for her to piece together a mental picture of molecular structures from the individual flashes she perceived. We allowed her as much time as she needed, and frequent breaks, all with a personal proctor who was carefully instructed on how to support her during the exam without assisting with any of the answers. I wish I could say we had a perfect system from the beginning but in truth it took several semesters for this student to meet the standards for the course. We generally considered the first time through each half of the course as a "dry-run" just to work the bugs out. We were all so pleased for her when she finished. I've never seen a student work harder, and I've never been more stretched as an instructor to meet the needs of a student. It is one of the most memorable periods of my teaching career. I have lost touch with this student, sadly, but I think I learned as much from her as she did from me. I think it helps me as I parent my own child with special needs to be more empathetic with school professionals who, for the most part, are stretching to meet my child's needs. We may not get it right the first time, but we'll keep trying hard.

To learn more about albinism, start here:

NOAH (The National Organization for Albinism and Hypopigmentation)Hermansky-Pudlak Syndrome Network