They Say He Has Genetic Disorder…PART 2

Alright, so where to start, where to start…I guess where I left off, right?

First, I want to say that I am in no way, a Dr., Genetic Specialist, Scientist, Therapist, or really anyone that can asses or diagnose your child. I am however, a parent going through some pretty tough shit. 🙂

Back in my last post (if you haven’t read it yet, you can find it HERE), I mentioned something about a new test we were waiting to get approval for (the one that costs $7,000 up to $23,000-which insurance doesn’t like to cover AND that we thought would take two years or so to get). Well, I am happy to say that shortly after that post went live, we had a genetics appointment at Nemour’s Children’s Hospital where we had been seeing our Geneticist since day one. She told us that the test had been doing very well with her patients and other patients within her board who study children similar to Colin. This test isn’t offered for everyone, it’s kind of the last resort when there’s no where else to turn. Not only was the test getting great results but, insurance was starting to approve coverage on it and she wanted US to apply for the test! Yay! ABSOLUTELY, ABSOLUTELY, ABSO-Freakin’-LUTELY! So, we did! She applied for Colin to have the test and approval or denial takes about 6-8 weeks- we waiteddd. Before leaving our appointment, we learned all about the test. Here’s a quick outline based on what I gathered from her and personal research:

Test Name: Whole Exome Sequencing

How test is done: Blood Test drawn for Biological Mother, Father, and Symptomatic Child-In office

Length of time between test and results: I’m sure this can vary but, ours took approx. 12 weeks

Purpose of parents having blood drawn: The purpose of the biological parents having blood drawn for this test, is to give a baseline, should the lab results come back with anything alarming from the child’s DNA (i.e., deformed or mutated gene’s, genetics that indicate high risk of disease or illness such as cancers, etc.). Upon dissecting the child’s blood, if they find mutated gene’s, they will look at those gene’s from the biological parents to determine where the mutation came from. The same goes for the high risk of disease- this only means, if the test comes back negative for high risk, that it does not COMPLETELY disqualify the child of cancer(s) or for being high risk but, it gives a good idea, and they would not look into those indicators from the parents if it came back negative. 

Back to the approval of the test…We waited to hear back from the genetics department to know if we had approval and finally the day came! We got it! We were approved coverage for the test. Our appointment was made and we each had blood drawn- Colin, myself, and James We were asked to sign consent forms giving either approval or denial, that if the lab specialists should find Colin at high risk for cancer(s), once they research James and I’s blood, whether or not we would like to know if we are each high risk cancer as well.  Either way, the lab specialists would still look into our genes to find where the risk came from but, it was a matter of whether or not we wanted to know for ourselves. After a total breakdown and anxiety attack, I approved, and James did too. This choice really had me squirming. Would you, or would you not want to know if you are high risk for cancer(s)? (If you remember by the time you finish reading this, I’d love for you to comment your answer and reason below!) I finally said “yes”, after contemplating “no”, for this reason: My immediate reaction was “No, I do NOT want to know.” Not because I didn’t want to know for my family but, if it came back with a yes, I really didn’t know how my mind could actually handle knowing that every single day for the rest of my life. Even though you may be at high risk for cancer, it doesn’t mean you WILL get cancer, it just means you are at a higher risk. With that said, I have EXTREME anxiety that I am still battling with on a day to day basis and I just didn’t know how I could function everyday with my mind worried about something that I could have said “no” to. BUT, I have two children that I love more than anything in this world and a husband that I want to have me as his one and only wife for the rest of our lives so, my reasoning for saying “YES” was for them. It was for us to know as a family so that we could make sure all of the proper care was taken to prevent the possibility of a late diagnosis of something like cancer later down the road.

That was it. We signed the consent forms, gave a little blood from the three of us and were on our way to wait for 12 weeks.

UPDATE:
During the time while we were waiting for the test results to come back, Colin was given an Autism diagnosis from his PCP as well as an Individual Education Plan (IEP) from a local public school. We applied, and struggled, to get him into the Special Needs Pre-K program at one of our local public schools for a few months. Let’s face it, the poor kid needed some REAL social interaction and day care would likely kick him out on the first day based on his behaviors. Best scenario would be the teacher going home from his first night at the day care with only a couple bruises on her. So, we needed a place that he could not, would not be kicked out of and that he could learn social skills, proper behaviors, and really, give me a little break. A friend of ours and our AMAZINGGGG behavioral aid helped advocate for us to get him into the program. (See one of the steps HERE.)

What is an IEP, you ask? …and how do I get one?

IEP stands for Individual Education Plan

Before an IEP is written for a child with a disability, the school must first determine whether the child qualifies for special education services. To qualify, the child’s disability must have an adverse effect on the child’s educational progress. This is determined in a series of tests conducted by specialists within the field (behavior aids, speech therapists, special education experts, etc.) The school you are attempting to attend should give you the proper information and connections to have your child observed for these qualifications. If you are approved, should you feel the need to change your child’s IEP by adding goals to it, you can call a meeting at any time to do so.

Colin completed his evaluations for the IEP and at first was denied..YES, denied. Even though BOTH teachers who did the observation agreed that he could not withstand attendance at a mainstream preschool. These evaluation and test results are not based upon the expert(s) just physically looking at and examining your child and making a quick decision, They have to follow a set of guidelines, and fill out packets of hundreds of little bubble marked answers based on the child’s reactions and abilities to certain physical/hands-on tests, tally up the results from each category and if your child falls ONE or TWO (like Colin), points within the category, they are denied. HOWEVER, DO NOT, i repeat, DO NOT be discouraged. If you feel that your child is in need of a special needs program for educational development, YOU FIGHT for your child. You CAN call a meeting with the board from the public school’s Special Education department to fight for your child to get into the program. There is no guarantee that they will then make a place for your child in the program but, if you feel strongly enough that this is the path for your child, you CAN resort to this. We did. The experts who evaluated Colin briefly mentioned that they could call for a meeting to evaluate the results of Colin’s tests and see about him getting in….boy, did they not realize who they just said that to. I was a momma on a mission and I WAS getting my kid into that program or I was going to be moving to another county to get him into one there until I found one to accept him.

*Reminder: We’re still waiting for results from the Whole Exome Sequencing…

Colin’s assessment was done the week before winter break so, I was on the phone EVERY single day that week making sure the school had everything they needed to set up that qualification meeting for him.. sure enough, Mission Impossible: CONQUERED. Cha-Ching! Proud moment right there!

By the time school came back from break, I waited and waited to hear about the meeting. Luckily, we had a family friend to help bump things along but, if you don’t do not give up. To put it clear as day for you: HOUND THAT SCHOOL UNTIL THEY GIVE YOU THAT MEETING. 🙂 *I do apologize to all of you who work within the school system reading this, I am one of “those” parents and I am terribly sorry that I am encouraging other’s to be the same 🙂 But, you gotta do what you gotta do, right?

Our meeting was scheduled, we received a letter in the mail to confirm our date to sit with the Special Needs director and teacher of the program, as well as others at the school Colin would hopefully attend. The meeting was great. They had already looked over Colin’s paperwork and results to find that his behaviors were EXTREME and HIGH RISK and some of his intellectual skills still needed some slight tweaking and stimulation. Although some of his scores were above average and fell into a category of a very intelligent child for his age category, those behavioral attributes just proved what we had been telling the school. So, they approved! Colin started school two weeks later! Yay!

He’s doing fabulous! To wake him up in the morning I simply have to say the words, “Colin, do you want to go to school?” and from a dead sleep, he SHOOTS out of his bed like it’s a missile launcher! His speech is phenomenal, still very hard for outsiders to understand but, we’re working on it! AND, he’s even verbally spelling his name. He’s finally singing to his little brother and dancing when songs come on at times! He likes to play dress up at school (fire fighters are his fave) and even makes his own choices when given two selections of things (meals at a restaurant, shoes, clothing, or toys.) We still have intense melt downs and tantrums at times but, it’s been great!

FIRST DAY OF SCHOOL-

school day

DRESS LIKE A TEACHER-

colin teacher

CAREER DAY-

colin career

RESULTS ARE IN!!

Nada. Yep, you read it right. NADA. NOTHING. ZERO.

The test results came back with nothing but some mutated novel genes.

What are novel genes?

Novel genes are uncharacterized genes that scientists have not previously identified to a gene family in human’s yet. Scientists are not sure that they do or don’t have major value within human’s at this time.

However, these particular genes in our case, have been tested on rats. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Since we do not have research on these genes within human’s there is no way to determine at this time whether or not the same affects that these gene mutations have on animals (rats, in this case) would be the same for humans. Some of the gene mutations Colin has within his DNA are common in rats with cardiovascular problems.

So, stuck back at square one.

Anddd, I know you’re curious. Colin did not come back high risk for cancer so, they did not test our DNA to find whether or not James and I were.

During our appointment to hear the results of the test, the fire alarm went off in the hospital building. Everyone evacuated and upon reentering the building after it was cleared, our Genetic Specialist’s partner (the one who observed Colin in my previous post) stopped our Dr. and asked if Colin was the same child she quickly assessed a few years back. Our Dr. answered yes and told her that we were in for results of the Whole Exome Sequencing, one of the BEST tests available to us right now, and that nothing came back. The partner was just as astonished as our Geneticist and they both agreed to have pictures taken of Colin to bring to their next board meeting with the other part of their Genetics Team from out of state during the following week. As for right now, Colin just has “Colin Syndrome.”

To rule out other ailments that may go along with a genetic disorder, Colin will have a sleep study and cardiovascular assessment done in the coming weeks. For now, we will wait until our next appointment or until the next big thing in genetic testing comes out! We will also be participating in Colin’s first fundraising event at the end of this month, May 30th for Autism Society of Greater Orlando as Team: Colin’s Colossal Cronies!

Thanks SO SO SO much for reading and for following along with our family!

I appreciate the shares on Facebook, the messages, emails, group adds, and loving words more than I could EVER express.

Hope that you all have had a wonderful Mother’s Day!

xoxo

The Wentworth Family

colin bapa

colin daddy colin momma

Profile View of Physical Deformations: Epicanthal Folds of Eyes,Nose lacking bridge, Low set ears and tilted back,Strange hairline and eyebrow turns

folds

In the meantime, the INCREDIBLE founder and owner, Kristy Corley at The Mom’s Magazine, asked Colin and I to be on the cover and share some of our story in January. Follow The Mom’s Magazine!

moms

One thought on “They Say He Has Genetic Disorder…PART 2

  1. I loved reading the entire synopsis and it was so well done and interesting reading. I am so glad it came out the way it did. Colin is doing beautifully and no matter what the results or the diagnosis, he is our special boy and in spite of his “meltdowns” he has a sweet temperament most of the time. I know that he will continue to thrive and excel with the help of his doctors and peers. Keep up the the great job you are doing and never stop believing in him. He is so loved!

    Jodi Baxley

    Like

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s