Findings and Communication

Discussing my "findings" with Faith's O.T. about what I've came across, it was brought to my attention that Faith has even more of the "symptoms" of the 17q21.31microduplication.  She has hyptonia (low muscle tone).  I didn't think she had this because she is SO stinking strong, but she has hypermobility to compensate for having low muscle tone.  These are things she is working with the OT on too.  Whenever she is in a relaxed state she is incredibly limber and can "flop" just about any direction.  She can do that when she's awake too, she just doesn't tend to "flop" but is SUPER flexible.

Those of you who've been following along over the past few years know of the difficulty we had with trying to get her a communication device and that we were ultimately denied it, after over a year of working at it.  Then around the middle of PreK we tried to get her a ChatBox 40+ (or something like that), we were unable to get it too as our insurance didn't work with the company who put that specific device out.  We finally got her a GoTalk 20+, it came in around the beginning of May.  I waited until she was out of school to try to program it.  I wasn't able to get it to record anything or to change levels.  I thought maybe I just wasn't smart enough, so I took it in to people who've had more experience with it than I have.  They were unable to get it to record or change levels either.  I then called the company.  One lady I spoke to thought I may have accidentally put it on "level lock", but it still wasn't doing anything after I did what she recommended.  She had an actual "tech" person contact me the next day and we went through the steps again.  Still not working.  Had to sent it back to them.  They are going to either fix it and send it back or send me an altogether new one.  Of course when Faith saw that there was a sticker on the back she ripped it half off.  It didn't look so new when I sent it back to be fixed.  With any luck we will have it back and fixed in a couple of weeks, and try to work with it more before school gets going again.

Gettin' A Little Science-y (but not too much).

I recently decided to start some investigating on the findings the geneticist presented us with back in December on the genetic testing and the soft metabolic testing.  He stated that there were "currently no clinical significance" with the bands that they found the copy gains and copy losses on.  So, I got to thinking.....maybe them all separately weren't anything, but maybe put together it was just enough to impact Faith the way it does.  Her OT has said she is one of the most difficult cases she's ever worked with.  We've even increased OT to see if it will help her out.  The most difficult thing is that there is nothing she's motivated enough by for it to be a "reward".  Anyway, I'm researching the genetic findings at the moment.  Haven't made it to the metabolic testing, yet.  The genetic mutations they found were: 3p21.31  (40kb) copy loss
                                                 16p13.3 (40kb) copy gain
                                               17q21.31 (90kb)  copy gain

Now to sound *kinda* not very smart.  I've no idea if 90kb is small enough or big enough to be a microduplication, or if a "copy gain" or "copy loss" is the exact same thing as a duplication or deletion.  I keep on searching.  I'll eventually have it figured out.  Eventually.  I've read some of the medical journal entries for it.  That stuff is not easy to read.  I remember doing several peer reviews while I was in college and I found them to be about as entertaining as watching paint dry (no matter how interesting the experiment was).  Fairly sure they even caused me to lose brain cells instead of becoming smarter.

 If there is something to it, the 17q21.31 copy gain DID sound like it may be of clinical significance.  There's tons more info about the deletions, and not so much about the duplications.
So, here's some info I found about it.  It's kinda long (but one of the only pieces that was written in more of a layman's terms).  p.s. I can't get it to un-bold half of this stuff.


17q21.31 microduplication:

This condition is caused by a gain of genetic material (called a duplication) on chromosome 17 and has only been recently characterized. There are very few people reported with this diagnosis in the medical literature, and each of them has features of autism spectrum disorder as well as behavioral problems.
There is no cure for this condition, but having a diagnosis can help guide a person’s health care. In addition, having a diagnosis of 17q21.31 microduplication syndrome in one family member allows for targeted testing of at-risk family members.

Features
17q21.31 microduplication syndrome has been associated with many features. These range in severity from person to person (variable expressivity). It is possible that some people with the duplication may not have any features at all (in scientific terms, the condition has reduced penetrance and a person with the duplication but without clinical features is considered “non-penetrant”). In other words, having this duplication likely leads to a predisposition for certain features. Some of the more common features are discussed below.
Some people with 17q21.31 microduplication syndrome have been reported to have low muscle tone (hypotonia). If this is severe, it may lead to feeding difficulties and slow weight gain (failure to thrive). Additionally, there have been reports of loose joints (hypermobility) and inguinal hernias that require surgery.
A person with 17q21.31 microduplication syndrome typically has subtle, unique physical features. However, it may be difficult for someone other than a genetic specialist to recognize them. These features may include large-appearing ears that have fewer folds than what is average, a short nose, a small chin and mouth, and a tendency to have more body hair than expected (hirsuitism).
A person who is diagnosed with 17q21.31 microduplication syndrome may have anywhere from normal intelligence to severe intellectual disability. Because only a few people are known to have this diagnosis, it is difficult to make predictions about the cognitive abilities of someone when they are first diagnosed with the condition. In general, people with this condition are diagnosed with autism spectrum disorder based upon poor social interactions, verbal difficulties, and behavioral problems.
As this condition has only been recently characterized, it is important to keep in mind that over the next several years, more information is likely to become available. Currently, it is difficult to predict the chance for a person with 17q21.31 microduplication syndrome to experience each of these associated features. As more people are diagnosed, and as the parents of those children are tested, we may gain a better understanding of how many people have the duplication, and what percentage of those people have each of the associated features.
Statistics
17q21.31 microduplication syndrome is a rare condition that has only recently been characterized; therefore it is difficult to pinpoint just how often it occurs. This is because there is a wide range of disability, and some people with milder features may not be diagnosed. Most duplication syndromes affect people of all ethnicities and both genders equally; so, it is expected for this to be the case with 17q21.31 microduplication syndrome. Based upon other, more widely-known duplication conditions that have a similar cause, 17q21.31 microduplication syndrome is estimated to occur in about one out of 20,000 to 30,000 people.

The cause of 17q21.31 microduplication syndrome is a duplication of multiple genes on one copy of chromosome 17. This duplication is often the result of nonallelic homologous recombination or NAHR.
NAHR occurs when regions of the chromosome that have similar sections of DNA are misaligned. When the chromosomes are copied the result is one chromosome with a duplication and deletion. When this occurs in reproductive cells (sperm or egg cells), a baby can have a syndrome associated with either the duplication or deletion. The syndrome caused by the duplication and the one caused by the deletion are called reciprocal conditions. 17q21.31 microdeletion syndrome is the reciprocal condition to 17q21.31 microduplication syndrome. It is important to note that a person can only have one of these conditions. When a person is found to have this duplication, it may be either de novo or inherited. If the child is the first in the family with the duplication, it is said to be de novo, or brand new). Alternatively, it is possible that the child inherited the duplication from a parent. The presence of 17q21.31 microduplication syndrome, whether de novo or inherited, is not caused by anything the parents did before or during the pregnancy.

This section is meant to be a guide for some of the more common features that may arise in a person with 17q21.31 microduplication syndrome. Someone with this diagnosis may not have difficulty with all of these features, or may have additional problems not listed below.
It is important to keep in mind that the medical community is still learning about the features associated with this condition. Over the next several years, more information is likely to become available. The following sections are based upon the published medical features of people who have been diagnosed with this condition.

During pregnancy
In many cases, there are no signs or features during pregnancy that indicate a developing baby has 17q21.31 microduplication syndrome.
As a newborn and infant
Infants are generally born around the expected due date. Overall, their birth weight, length, and head circumference are typically within the normal range.
There are generally no birth defects or major medical problems, but some infants may need repair of an inguinal hernia, which is a fairly routine procedure. One infant with this condition reportedly was admitted to the hospital due to failure to thrive. There are many causes for failure to thrive: these include feeding difficulty associated with hypotonia or developmental delay/intellectual disability.
As infants grow into childhood, some have been noted to have a smaller head size than expected (microcephaly) and others have been noted to be shorter than expected. For this particular condition, microcephaly and short stature have not been associated with any medical problems. Hormone problems may potentially be a cause of the child’s short stature, and it has been suggested that people with 17q21.31 microduplication syndrome be evaluated for hormonal problems.
As a toddler and during childhood years
Toddlers with 17q21.31 microduplication syndrome generally have delays in their development. These include delays in achieving milestones such as walking, talking, and also social development.
Children who have been reported with this condition learn to walk, but this may occur later than expected. Of the few children reported with this condition, they learned to walk somewhere between 12 and 60 months of age.
Children with 17q21.31 microduplication syndrome also learn to talk, but this may also be delayed, and may ultimately be limited. Specific verbal difficulties include poor auditory memory, sentence formation, and word finding abilities, as well as inability to follow directions.
Finally, children who have been reported with this condition have behavioral problems. These include aggression, outbursts, and obsessive-compulsive tendencies. Additionally, people with this diagnosis may be diagnosed with and treated for neuropsychiatric disorders such as depression and attention-deficit-hyperactivity-disorder or ADHD.
Much like other children, those with 17q21.31 microduplication syndrome will have common illnesses, injuries, and challenges. Children with 17q21.31 microduplication syndrome have had sleeping problems as well as difficulty with toilet training.
A child with 17q21.31 microduplication syndrome who has intellectual disability may require extra attention in the school setting. For these reasons, as well as the possibility for behavioral problems, a child with this condition should have a neurodevelopmental assessment through early intervention services, a developmental pediatrician, or through the school system. Early intervention services are typically available through state programs when a child is young (usually up to three years of age, but check with your local provider or school district). After that time, a developmental pediatrician or the school system should provide assessments that will help to create an individualized education program or IEP. IEPs help ensure that a child receives the assistance he or she needs to reach educational goals based on hisor his personal abilities, and are updated yearly by the child’s team of teachers, administrators, and parents.
During teenage and adult years
In general, for a teenagers and adults with any genetic condition, lifetime achievements will depend upon his or her level of intellectual disability. For instance, being able to complete high school (generally with some special education or resource assistance), go to a vocational training program, hold a job, and live independently are all possible, but likely to happen more often in those with milder intellectual disability.
It has been noted that people with this condition have poor or limited social interaction with others. Because teenagers and adults with 17q21.31 microduplication syndrome may not understand social cues and may have poor non-verbal communication, it can be difficult for them to develop long lasting relationships. Through various organizations, teenagers and adults may be able to connect with others and develop these friendships.
Because 17q21.31 microduplication syndrome follows an autosomal dominant inheritance pattern, each child born to a person with this diagnosis has a 1-in-2 (or 50%) chance of also having 17q21.31 microduplication syndrome. When considering parenthood, it is important to remember that the type and severity of features can vary (variable expressivity).
Although the medical community does not have specific information on older adults with this condition, there have been no major medical complications reported to date that would indicate a short life expectancy.

In a few of the other pieces I've read they talked about the difficulty sleeping, or having in general a messed up pattern (I'm sure the scientific journals put it that way). ;)  They also discussed the non-verbal to very limited speech, serious difficulty with potty-training, having to have dental work because of softer (or teeth with no enamel), along with the person having "bouts" of laughter that can last for hours.   All of those things are going on with my girl.  Along with a lot of the stuff above.  She doesn't have extra hair, or difficulty with mobility.  There may be something to the eating as she tends to prefer food that has the consistency of mashed potatoes, peanut butter, insides of oreos, pudding.  Who really knows for sure (I do not, just trying to make sense of some things).