SATB2 Siblings

I am constantly impressed by Chelsea. She works so hard, since everything is so difficult for her. She goes to speech, occupational, and physical therapies, has 7-8 hours of school 5 times a week, and then comes home only to do practice what she learned and have hand over hand done for life skills- dressing, hand washing, taking a bath, etc. 

But I talk about that all the time. Today, I want to say how impressed I am by siblings of special needs kids. To those sweet spirits who get dragged around to waiting rooms and entertain themselves while their mom takes notes on therapy, or talks to yet another doctor. 

My typically developing son amazes me. Not because everything comes easy for him, but because he has stepped so willingly into the role of personal aide that I never thought about him needing to take on. 

To give some examples:

1. When Ryan was 3, I asked him to watch Chelsea and keep her safe while I had a shower. AND HE DID.

2. Even before he was 2 years old, he took on the role of translator when people couldn't understand Chelsea. I guess all that sitting in on speech therapy helped his verbal abilities!

3. He is constantly explaining things to her step by step. By 3 years old, I would hear him saying, "Okay, Chelsea, we need to get dressed. So what do we do first? Right! Let's choose clothes. Don't pinch your fingers in the dresser drawer."

4. I was very sick when Ryan was 4 and Chelsea 6, and he made her a sandwich with cottage cheese and applesauce as sides, then entertained her for an hour.

5. He plays on her level, and teaches patiently (most of the time, they ARE still siblings, after all!). Over and over and over. 

6. He treats her just like anyone else! I love this one, since so many people will flip on the "poor baby, let me give you everything you want because you are disadvantaged" mode. Ryan will get mad at her for annoying him, and treats her as an equal, not someone to be pitied.

7. He ends up playing by himself a lot, and understands that while Mom and Dad give him as much attention as they can, but they need to help Chelsea a great deal of the time. 

8. After I measure out her seizure medication, Ryan is sometimes the ONLY one who can administer it to Chelsea without her freaking out. And he will!

9. He is very accepting of others' differences, particularly speech impairments. I have heard him say things like, "That's okay, my sister doesn't talk either." Besides, he talks enough for 3 kids, so it works out. 

10. He is fiercely protective of Chelsea. When Chelsea was getting teased by a boy 3 years older than Ryan, Ryan jumped in and told the boy to leave his sister alone, or he would punch him. Then he took Chelsea's hand to go play somewhere else.

11. He still does all the typical brotherly duties. Like teaching her to say "Pick nose" with actions included. 

2017 Conference All About SATB2

Just about every parent who has a child with SATB2 Associated Syndrome knows Dr. Z. He is the geneticist who is researching this disorder, and made the official SATB2 website, which is HERE.

The website has the best, most accurate information available. At the 2017 conference, Dr. Z gave the most popular presentation, and it was all about answering common SATB2 questions. 

SATB2 TIMELINE

Quick history lesson: The first ever diagnosed case was made by Dr. Glass in 1989. This is why some geneticists call it Glass Syndrome. The SATB2 gene wasn't discovered until 2003. In 2007, the first individual with a mutated SATB2 gene was found.

2014 was when the ball really started rolling. The function of the SATB2 gene was being studied in mice, and the 1st paper on this syndrome was published. 2015 was when Dr. Z got involved. A mom of an affected child emailed him asking for his help.

In 2016/ 2017, we got the official website launched, a UK study was published, and SAS was added to a list of officially recognized rare diseases. We also had our conference in August of 2017, at a hospital in Little Rock, Arkansas.

HOW COMMON IS SATB2?

As of the conference, we had roughly 150 diagnosed people in the world. Which makes you think that the incident rate would be extremely low, right? The assumption was about 1 in 50 million or something.

BUT- this is a new diagnosis, so those who got testing done a couple decades ago wouldn't be diagnosed, and many people with ID (intellectual disability) don't get diagnosed, or are misdiagnosed. Because genetic testing can be very expensive!

But short answer, Dr. Z estimated it is 1/ 33,000.

WHY DOES IT HAPPEN? COULD IT HAPPEN AGAIN?

• Not sure why it is happening, and it seems to be evenly distributed by population
• This syndrome is de novo, but it could happen again
• There is a pair of siblings with parents with normal testing
• Another case has a mutation in a dad with very low levels
• Another case is a pair of siblings with a duplication not found in the parents
• It is estimated at a 2-3% likelihood of having another SAS child 

MAIN FEATURES: Current as of August 2017

41% female

59% male

Known cases, ages are 0-34, mean of 9 years old

Commonly presents with:

• Developmental and speech delays? 100%
• Mean IQ is 46 (32-53)
• Commonly has a broad thumb and big toe
• Brain differences (abnormal EEG, but no clinical seizures)
• Sleep Difficulties
• Fractures
• Balance issues
• Low muscle tone

The "Everything" Binder

I keep copies of all Chelsea's files in binders organized by school year, blogged about it HERE. But, I found it really burdensome to haul around several different binders, so made a "Chelsea Binder" that I can bring to any appointment and have exactly what I need in there. 

In a Nutshell

Most doctors/ therapists want the same thing, so I include COPIES (never originals!) of the following:

• Her birth certificate 
• Her social security card
• Her most current IEP
• Her most recent OT/ PT/ speech evaluations
• Most recent EEG results, DEXA scans, etc. (any evaluation you get done, but only the most recent)

I also include:

• Business card organizer with all the contact information for all doctors, therapists, special ed lawyers/ advocates,  schools, etc!
• A chart of all her previous schools attended
• A chart of all her diagnoses, date of diagnosis, and where/ who diagnosed her with what
• A chart of previous tests/ evaluations
• A chart of hospital visits, therapy centers, etc.
• Samples of her artwork by year
• Samples of school work by year

Okay, that is a lot! Let me break it down a little more:

The EssentialsGet a COPY of your child's birth certificate and social security card. If you want to apply for Medicaid, Social Security or anything like that, they will want those documents. Or if you call to update information, they want the social security number RIGHT THEN, and if you don't have it, they put you back on hold for who knows how long. 

The IEP

I sectioned out Chelsea's IEP for two reasons. First, it is a 32 page document, and there is no way I would ever be able to fit 32 pages into one sheet protector. 

Second, it makes it easier to quickly locate specific goals or bits of the IEP I need to reference. I put a sticky note on the front of each section as a miniature "table of contents". 

Evaluations/ Tests

Again, only put in the most recent copies. If you have had a neuropsychological evaluation done every 3 years, only put in the one completed most recently because it is the most up to date.

This section could include things like:

• Occupational therapy evaluations
• Speech therapy evaluations
• Physical therapy evaluations
• DEXA scan results
• EEG or MRI scan results
• Medication- what brand of what med, dosage, when administered
• Genetic lab results
• Blood panels 
• Specialist reports (neuro/ neuropsych/ endocrinologist/ craniofacial)

I really love Calvin and Hobbes!

Remembering Everyone

With special needs parenting, you meet a LOT of professionals. Doctors, therapists, advocates, teachers, aides, lawyers, specialists, the list goes on and on. 

I was always kicking myself, trying to remember who I talked to and when and how to contact them again. Now, I just ask for a business card, and stick it into the business card organizer I got from Walmart. If I need to, I can write on the back where I met them or any other notes. 

Charts

I love, love, LOVE charts. It makes everything so easily accessible! Some of the charts I use:

1. A School Chart 

School Name       Address           Phone        Dates Attended

2. Diagnosis Chart

Diagnosis         Date Diagnosed       Who Diagnosed Her 

3. Previous Tests/ Evaluations (list them all!)

Test         Date         Doctor           Results

EEG#1    01/01        Dr. Brain       Complex partial seizures

DEXA      04/01        Dr. Bones      Osteopenia 

EEG #2   01/04        Dr. Brain       Same results as before

4. Facilities Used Chart (hospitals, therapy centers, etc)

Facility Name      When Visited      Purpose

Big Hospital         02/01                  Dental extraction and sedation

Therapy Center    01/01-01/06       Speech and Occupational Therapy 

Samples to See Progress

I love seeing how much Chelsea has progressed and developed over the years! I started pulling a sample of her artwork and school work each year so I can see how far she has come. It makes me feel like all of our hard work has paid off. I include samples of her handwriting in the school work section. 

Benefits of Adaptive Gymnastics

One of the things I have done with Chelsea since she was a year old is take her to adaptive (or "special needs")gymnastics classes. It is SO GOOD for her development. Here are some reasons why:

1. Gymnastics forces the brain to create new and adaptable motor plans. You do things in gymnastics that you normally wouldn't, so the brain is working extra hard to develop ways to do what you are telling it to.

2. Lots of crossing midline here! This is something that they really try to emphasize in occupational therapy, and it comes naturally in gymnastics. Plenty of placing feet and hands at or across midline as you work on vault, beam, bars, floor, etc. It also is a HUGE help with balance, something Chelsea REALLY struggled with, but does much better now.

3. The trampoline is great is so many ways for your body! From teaching the basics of jumping to forcing the brain to think about how to connect two different jumps (motor planning, two-step directions, coordinating the body to absorb the impact of one jump and transition to the next)

4.  Chelsea has to follow directions from her coach, and really think about what she is told. Instructions aren't simple "go get your shoes" it is more like "Put your right foot here, left hand here, and squeeze your muscles"

5. Grip strength! Most people know that gymnasts are STRONG! Their hands are strong because they are constantly hanging on bars, gripping the bars and simultaneously holding up their body weight, etc. 

6. Shoulder/ arm/ wrist strength! The majority of adults can't do a handstand, even against a wall. One of the reasons is that is a motor plan you never learned. Another reason is that most lack the shoulder and wrist strength needed. You know what else shoulder, arm, wrist, and grip strength helps? Handwriting!!!! 

7. Core strength! Every event in gymnastics- floor, bars, vault, beam, and trampoline, requires an enormous amount of core strength. Hands up, whose child had an OT that wants to work on core strength? With SATB2, I would guess at least 75-90% of us! It is soo necessary for everything we do, even when we don't realize we are using our core. 

8. IT IS SO MUCH FUN!!!!! At the gym Chelsea goes to, they do princess play dates where princesses come visit, summer camps when the last day is a carnival with balloons and cotton candy and bounce houses... And gymnastics by itself if super, super fun! Chelsea LOVES going each time!