Receiving the second Fragile X Syndrome diagnosis

     
Second Diagnosis

Sometimes It feels like life is testing us to see how much we can handle before we break.
The waiting room visits continue, the sadness after each and every diagnosis never ending.
3 months after Emmett's  FX diagnosis we received Amaya's FX diagnosis too.
Once again same clinic, same doctor, but not quite the same feelings. Their was no way FX can hit us twice I told myself. I had researched Fragile X Syndrome in girls and most of the information was that they were carriers. I had told myself that the worst case scenario would be her being a carrier like myself. God couldn't be so cruel and do this to us twice.  I kept begging God not to do this again but it was obvious my heart already knew what was coming.
 I was hoping the odds would be in our favor, but boy was I wrong.
Amaya not only tested positive for Fragile X but she has the Full Mutation.
I was pretty much heart broken again.  I asked myself so many questions.
Why us again?
Would she has similar difficulties as Emmett?
How would I raise two children with FX?
How did I not noticed sooner?
So many questions went through my head that day, but the geneticists reassure me that girls with FX can live a full life, go to college, have a career, drive a car, get married etc. I believe it was at this moment that I realize that God indeed did this to us again.
Juan was just as surprise as I was. He was speechless this time around. Juan asked the geneticists if he was sure and he told him their was no mistake and showed us the labs. A we saw does numbers we felt so lost. We walked out of the clinic for the second time heart broken.
Shortly after driving away Juan and I were down the street from the clinic when Juan crashed into the car infront of us. It was a minor crash and no one got hurt except for my car. I had asked him if he was ok to drive and he had told me he was.  He was distrated thinking about Amaya having Fragile X Syndrome. Two kids with Fragile X Syndrome he said wow! I knew at that point that we needed to take a few minutes and let it all out because we  were both not ok. We were disappointed in God, and in life. We drove to church and screamed at God for a few minutes and went on our way.
I truly don't believe God gives special kids to special parents. I hate hearing people tell us this over and over again. I sure the heck don't feel special I felt like I was being punished over and over again.
I realized that no matter how much you try to prepared yourself to hear these news you are never prepared for how it feels.
As the months go by I've come to realize that both of my kids are perfect and although they both have Fragile X Syndrome I will not let a diagnosis define who they are. I will come up stronger than ever and I will embrace all the positive and negative obstacles that come with having Fragile X. I will ask God to give me the tools, and strength to be the best Special Needs parent in this world.
Amaya is one of the smartest, caring, and lovable individual I know. She has taught me the real meaning of life. She works so hard each and every day. The odds do not define her. Although sometimes her anxiety is way more than she can handle she always gives it her all.

                                       Amaya's Update:

Amaya is very high functioning the complete opposite of Emmett. She is a 2nd grader that is  mainstream and is fully included at her school. I moved her to a smaller school setting at the end of Kindergarten because the bigger school setting and large environment was to overwhelming for her. She was having a difficult time making friends and she was performing below her ability due to social anxiety.  She did have some speech delayed as a toddler, but was denied services at the time. Ofcourse I was told I was an over reacting first time parent and I believe it. But I guess now it all makes sense. At the moment the only FX related issues she is having is severe anxiety, extreme shyness in unfamiliar places or situations which is very common in girls with FX. Ive often get asked by doctors why is she so high functioning? I truly believe that her positive environment and her participating in HeadStart since the age of 3 helped her tremendously. Amaya and I have always address any learning challenges head on. For example she was having a hard time learning her ABCs as a toddler I spent the whole summer teaching her and making sure she exceeds all her challenges.

Emmett back in 2018

Emmett’s Services

Services,Therapies, & School. 

ABA Therapy

 Emmett has been receiving ABA therapy from A Change in Trajectory (ACT) for about 3 years now. He began ABA therapy when he was 18 months old, at that time Emmett wasn't walking yet. Emmett is currently 4 years old 10 months old. ABA has done wonders for Emmett our ABA company has become family to us. They know Emmett very well and are always working hard to find ways to better teach him in ways that Emmett can learn. They are also assisting us in Potty training him.

How many hours of ABA therapy does Emmett receive?

Emmett is receiving 15 hours a week of ABA therapy we were receiving more but due to Emmett starting a new program we reduce the amount of hours to better accommodate his schedule. We also included a Saturday Session. All of Emmett’s ABA therapy is done at Home. 

Does Emmett like ABA?

Emmett enjoys a routine an ABA has become part of his routine he enjoys working with the Behavioral Instructors(BI)s. Sometimes Emmett does get lazy but most of the time the BIs find ways to get him to do interact and work on his program.

Speech

Emmett attends The Talk Team for 1 hour per week where he is currently working on using his AAC device and learning how to communicate through his device and play skills.
Emmett was receiving speech at the Children's Hospital. He  finished his 10 week sessions and we decided to find a different speech therapist that supported assistive technology and met Emmett's areas of need.
We are also receiving speech through the UC Davis Mind Institute Research Study called The FX Learn Study. Study consist of a Parent Intervention (PILI) with a Speech Pathologists on a weekly basis. Where the parent is trained to work with child using Speech therapy techniques. Program is very intensive and requires  homework videos of parent working with child, as well as weekly video calls with assigned Speech pathologist.  

Equine Assisted Psychotherapy Therapy

Emmett is receiving equine assisted therapy through Path to Hope (Therapeutic Riding Center) he does one session a week for one hour. Emmett has made an incredible amount of progress. He is riding and he is loving it. Emmett is now doing 15 minute riding session. He loves the farm setting. He is leaving his helmet on. Helmet on head was a huge issue for him when we started he worked on leaving it on step by step. Thanks to his incredible teacher Gabby he is able to ride with his helmet on for the entire session. 

Occupational Therapy (OT)

Emmett is back to OT. The waitlist has finally lifted he is getting assessed on Friday January 31st 2020 we are hoping to start up again after being off OT for a year in the next few months. We are hopeful the waitlist is not that long.

Homeschool Preschool

Emmett does a homeschool preschool with mom. We decided to homeschool after having several IEPs with our school district. The program they were offering Emmett limited his abilities and they were refusing to offer a different placement for him. The program did not include  inclusion of any type. The school district wanted to segregate him a center for kids with severe disabilities. Where there was clearly no inclusion and they were going to focus on basic life skills. We are offering a more inclusive option at home. 

Physical Therapy

Emmett  was referred for PT and is getting assessed for services in March 2020 we are hoping the waitlist to began services won't be so long. 

  

Other Services

-We receive services with our local regional center which include Respite Care.

-UC Davis Mind Institute, we see Dr. Randi Hagerman  3-6 months for help, medications, and latest news in regard to Emmett’s Fragile X Syndrome. 

- Emmett is also taking part in research studies at the Mind Institute.

The Diagnosis. Even if you know what's coming, you're never prepared for how it feels.

        

  After many times of pressing delete over and over again on the keyboard I decided it is time. Time to tell it all, to go back to the dark days in my life where everything was gray and time stood still for multiple days, weeks, and months. The diagnosis. I do not recall the exact date, I have chosen to erased it out of my mind completely. I just know that it was the year 2016, after Emmett’s second birthday. We did not celebrate Emmett’s second birthday that year because we were so caught up in our grief. I told myself that it was ok, since Emmett didn’t like being around people, and no one understood what we were going through. I recall the constant late nights of research, and tears that I shed every night. As I looked at all of those countless articles, my heart kept breaking into little pieces. I told myself I was crazy, and that I was overacting, but not once did I believe myself. I waited anxiously for every appointment with many different specialists. 
  Emmett’s firsts pediatrician completely ignored all my concerns and made me feel like a crazy psychotic overreacting parent. After Emmett’s fourth visit with him,  I left crying out of his office.I was so frustrated because he refuse to accept any of my concerns. Later,I moved on and found this amazing nurse practitioner that quickly took all of my concerns and referred him very quickly. I also contacted my local CVRC and made a referral with them myself. They quickly came and before we knew it, we had began Early Intervention. Some specialists told me I was overacting to give him time. Some said it was autism, he’s delayed, or just wait until he’s older.  One neurologist in particular changed our lives. He was the third neurologists that I had seen. He took one glance at Emmett and  said “ Look, I don’t know what is going on with Emmett, but what I do know is  that there is something there. I will referred you to a geneticists, maybe he can help you, if he doesn't figure it out, come back and we will figure it out”. I knew at that point that in fact I was not overacting and that I should not second guess myself.I went to my pediatrician and immediately asked to be referred at out as soon as possible. Our first visit to the geneticist was amazing. He evaluated Emmett and asked about a million questions. He took all of my concerns into consideration, and then he order blood work. 
     I took Emmett to get the blood work done and I decided I to take a picture of his blood order form. I researched what he had been tested for and to see if I could figure it out while waiting for results. Getting the results took about 3 months. So I looked at the sheet and I googled every single one of them. They were about 10 different genetic disorders he was being tested for. After I came across Fragile X Syndrome I quickly knew that was what Emmett had and the more I researched, the more it appeared that fit all symptoms and characteristics. I researched every corner of the internet until I saw every single article and video on Fragile X syndrome. The day I was supposed to get the results they didn't have them. They had lost Emmett’s blood sample for Fragile X, but the geneticist reassured me that he had tested negative for all the other syndromes. So he ordered another lab order and once again we went to get more blood work. I begged the geneticists to please let me know as soon as he got the results, that I wasn’t going to wait months like the last time. Four days later he called and asked that we come in to see him, and to bring my fiancé Juan Emmett’s Dad with me. I knew that he had tested positive, but my heart still had high hopes, and  that I was being the overacting mom like everyone said I was. 
   As we waited in the waiting room for nearly an hour, it felt like eternity. Juan and I stared at each other, reassuring ourselves that is was going to be ok. We were both dead tired and feeling extremely scared. I made a list of questions to ask the geneticists  in both scenarios if he did or didn’t have it.

I recall blowing bubbles for Emmett while we where waiting and holding back tears trying to hold my composure. As he walked in with an intern and another pediatrician, he began to explain what fragile X syndrome was and how if effects your chromosomes, what a carrier full mutation and premutation meant. He paused and said “Emmett has the Fragile X Syndrome  Full Mutation”. He politely asked if we were ok and Juan quickly jumped in and started to ask questions from our list meanwhile I was picking up the pieces from my heart that was shattering in a million pieces on the floor. Meanwhile the geneticist recommended me to get tested for Fragile X Carrier , and then he recommended that my daughter get tested as well. We both managed to hold our tears and our composure until we walked out of the exit door. After that there was nothing but tears the whole way home and the days after. I have to admit, we could probably fill up a whole lake with the amount of tears that I shed that day. Finally the wait was over, and although the outcome was more than I could handle at the time there was a sight of relief that lifted off of me for a few moments. I had my answer to all my concerns with my son, and I wanted to feel completely relieved,but I couldn’t because now I had to wait and see if my daughter was going to test positive for Fragile X Syndrome, and live with the guilt of being a fragile X carrier and passing on Fragile X to my kids!

More information on Fragile X Syndrome can be found at https://fragilex.org/understanding-fragile-x/fragile-x-syndrome/