Life with Fragile X and What It Means For Us

I have known since I was 14 years old that Fragile X could affect my life , but I never took it seriously until now. I had my heart set on having at least 4 kids. I feel like a lot of people don't understand what that means and that their love for me and wanting happiness for my family blinds them. So I'm going to explain to the best of my knowledge. Ok I'm going to use Google for some of it , but here goes.

Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition.

Fragile X syndrome is the most common cause of inherited mental impairment, ranging from learning disabilities to severe mental retardation including autism or “autistic-like” behavior. Symptoms can include physical characteristics, behavioral deficits, and delays in motor and speech/language development. Approximately 1 in 3,600 males and 1 in 4,000 to 6,000 females have mental impairment due to FXS.

The features in males with FXS are the following:

Behavioral characteristics can include ADD, ADHD, autism and autistic behaviors, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders and increased risk for aggression.

The majority of males with fragile X syndrome demonstrate significant intellectual disability. Disabilities in FXS include a range from moderate learning disabilities to more severe intellectual disabilities.

Physical features may include large ears, long face, soft skin and large testicles (called “macroorchidism”) in post-pubertal males. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints.

No one individual will have all the features of FXS, and some features, such as a long face and macroorchidism, are more common after puberty.

They are also very social and friendly, have excellent imitation skills, have a strong visual memory/long term memory, like to help others, are nice, thoughtful people and have a wonderful sense of humor.

The features in females with FXS are the following:

The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the syndrome’s behavioral and physical features.

About one-third of females with FXS have a significant intellectual disability.

Others may have moderate or mild learning disabilities, emotional/mental health issues, general anxiety and/or social anxiety.

A small percentage of females who have the full mutation of the FMR1 Gene that causes FXS will have no apparent signs of the condition—intellectual, behavioral or physical. These females are often identified only after another family member has been diagnosed.

Because Fragile X is carried on the X chromosome, which is one of the sex determining chromosomes, female carriers have a 50% risk of having a child, male or female, with the premutation (a carrier) or the full mutation.
A male carrier will pass on the premutation to all of his daughters as they will all inherit his affected X chromosome, but this expansion will remain stable and so none of his daughters will become full mutation.
He can not pass on Fragile X in any form to any of his sons as his male children receive his unaffected Y chromosome.

I was tested to see if I was a carrier after Damon was born. We had a referral to do it sooner , but I held out because it was too far away for us. This was while we were in North Dakota. My test came back and I had over 200 cgg repeats.   This expanded number of repeats is called a “full mutation” and it causes the FMR1 gene to “turn off” or not work properly. An FMR1 gene that is turned off doesn’t produce enough, or any, of the FMR1 protein that it is designed to produce.

Individuals who have the Fragile X premutation have a higher risk of having children with a larger number of repeats. This is because the larger the number of CGG repeats, the more unstable the FMR1 gene becomes. Thus, there can be a family with no history of Fragile X syndrome in which it suddenly appears in a number of offspring. I ignored this fact because I was stubborn and at first didn't understand. I just wanted to think the doctor was insulting me when in reality , he was helping me. So the more children I try to have , the more at risk I am of this gene becoming more unstable and making the fragile x worse in my kids.

Common traits of carriers may include:

• Social interaction and communication difficulties-ME
• Learning difficulties, particularly mathematics and other abstract concepts-ME
• Attention Deficit Hyperactivity Disorder (ADHD)
• Anxiety including social anxiety-ME
• Depression
• Early menopause called Fragile X Primary Ovarian Insufficiency (FXPOI) in females
• Parkinsons-type disease symptoms in later life called Fragile X Tremor Ataxia Syndrome (FXTAS) in 20% of male carriers and fewer females
• Abnormal periods - ME
• Weight gain-ME
• Mood swings and unexplained irritability-ME
• Thyroid problems-ME

There are a number of ways to build a family for carriers including conceiving naturally and testing the pregnancy (prenatal diagnosis), testing a fertilized egg outside the woman’s body and implanting only unaffected embryos PGD), using an egg donor, adoption and conceiving naturally and not doing any testing. But this stuff can get expensive.

God didn't completely leave me hanging though. I have a beautiful son. He let me carry this beautiful boy and trusts me to raise him and care for him. I have to appreciate and cherish this gift. Although it's possible that I wont have anymore babies , I have Damon. I did get to experience pregnancy and childbirth this once and it's amazing.

We still don't know what this means for Damon. He's only four years old. He has already come a long way! We are just in the beginning of this FXS journey. He is developmentally and mentally delayed and always will be. We just don't know which direction this will take us in his life. He is doing things on his own time in his own way.  I think he will prove everyone wrong, it's a strong feeling.  He is already so smart and he loves to figure things out and learn.  He has his bad days though and it's hard to get through to him.

It concerns me for when he starts school that I'm going ot be putting my trust in these people to work with him and try to understand him. It's not easy sometimes. 

Damon lights up everyone's lives. He's happy and playful and he loves being around people. He loves to laugh and play. He loves to watch other kids and learn from them and be a part of their lives if they let him. Being with other kids makes him the happiest. So I'm hoping that when he does go to school , that he's not alone , that he has other kids to play with and learn with. He has such an outgoing and happy spirit and I want to always see it shine through in him. 

So , I hope you read this and didn't just scroll on past or roll your eyes. I'm sharing a very important part of our life with you so that maybe you'll now understand FXS and how it affects our lives and why Damon will most likely be our only child. Time will tell.

www.nfxf.com

www.fragilex.org

To My Angel

In September of 2015 , I discovered I was pregnant and not very far along. We were happy and scared and excited all at once. But the baby was gone before he or she  could begin and it was heartbreaking. I was in a wreck and found out after that I'd miscarried.  But not because of the accident though. I went to the doctor for an ultrasound and the baby wasn't there. I cried and cried. Nine days later , I found I was pregnant again. I thought what a true miracle! What a joy! I took one pregnancy test a week for a month before going to the doctor.  We saw the baby for the first time and heard the little heartbeat.

A true miracle! Sean and I were so happy. We were told that everything looked good. I decided to announce to everyone then our amazing news. I posted the ultrasound pic and shared our joy. I wasn't throwing up but I was tired , so tired. I took my prenatal and tried to sway away from bad foods and soda. I tried to keep my energy up and do chores and take care of Damon. Because , why not? I see other pregnant moms do it. Some even work the entire time. We were under stress though. Sean was out of a job and our money was running low and we were running out of options. I tried my best to stay positive and calm , I'm pregnant you know. I prayed to God to help him find a job and for us to get back on our feet again, We had our disagreements during this hard time and he thought he failed us. He never failed us. We still had what we needed for Damon and got help from family.

  I considered working but was worried about how that would go with a babysitter and paying one we couldn't afford. So we made the best of everything. I was making sure not to stress too much and to take care of myself for the baby. I was terrified of how we were going to take care of two kids this coming July. We had the help of our family though and we weren't 1100 miles awat anymore on an air base. We can do this!

Christmas came around and we got together with our families and had a wonderful time. I felt ok but didn't at the same time. But it didn't feel like anything serious. I was fine. So I went about the day and had a good time. I was able to eat and drink and move around ok. Sean and I even cleaned up the dinner mess. I felt ok going to bed and summed it up as just being different from my pregnancy with Damon. At 4 am the next day , I was having cramps and could not get comfortable in bed. By 8 or 9 , I knew something was wrong. I woke Sean up and told him. I called my mom and asked her about what was going on. After I hung up with my mom , the first of the blood came. I thought ok , this is a small amount , no harm. Then a big clot came and more blood. Then I knew. I knew that it was over. I looked at the clot in my hand and just screamed. It tore through me uncontrollably, it ripped my heart out of my chest and threw it on the floor. My husband had tears and so did my son.

I told Sean to take care of Damon. He needed him. I called my parents and we went to the ER. There , they confirmed my nightmare. I lost the baby at 10 weeks 4 days. I had an appointment to see the baby the next week. My parents held me and we cried. I was looking at the Jesus on the wall and praying to him and asking why? Why did I get this far? Why did you do this? Why do you need my baby? I wanted to be mad at him but I wasn't. My parents took me to get medicine and then home, I don't remember much of the rest of the day. But that evening , I had the baby. I held her little body in my hand. I felt disconnected at first. I felt like this wasn't real. I touched her little arm and her little body. She wasn't even two inches maybe. I say girl because that's what I felt in my heart, that this was my little girl.  I know my husband was hurting too but I didn't know what to say. I felt like I let everyone down. I failed my baby. My family. I barely ate or drank anything for awhile. But my family and friends were constantly checking on me and my husband and son were by my side a lot. I finally woke up one day and decided I couldn't dwell. I had to be there for my family. I still have my amazing son! He's pure joy and the light of my life. I still have Sean , my amazing husband! And my amazing family and friends. I have to get up . I have to better myself. Ihave to trust in God's plan. He needed my baby for something and maybe I needed to learn something from this.

I have a few things that memorialize my miscarrages ,some sad but some are meant to be happy. I have a necklace of the ultrasound pic , floating locket charms, I put a mamorial angel in our garden where we can visit the baby, I had a blanket crocheted with tiny little feet on it to symbolize my angel children. I did these things for closure. To keep them close to our hearts. I feel I can completely focus on the future now and my family. My son and husband need me. I love them more then the moon and stars. I pray to God every single day and thank him for this wonderful life I have. I will always feel pain over the loss but I cant let it make my life. I still cry sometimes but not all the time. I'm ok. I can better myself by getting healthier for myself and my family. I can be a christain woman who falls a lot but God picks me back up. I can have this strength to go on because I have the will and the need to.  I want to thank Sean and Damon and my entire family and my friends for helping pick me up. I love you all so much.

Influenster: Loreal Extraordinary Oils Vox Box

I recently received the Extraordinary Oils Voxbox by Loreal complimentary of Influenster for testing and review. I am quite pleased with these products. I received the shampoo , conditioner and serum. After one use , my hair was soft and shiny and beautiful. It was easily manageable and tangle free. I started with the shampoo and could tell a difference with just that. The conditioner was amazing , I could tell a difference right away. I left it in for a couple minutes then rinsed. I blow dried my hair and applied the serum. It made my hair shiny and silky smooth. I couldn't stop running my fingers through it. I've used these products everytime I've showered and I'm still getting amazing results. This is my new go to hair regimine. I'm attaching a couple pictures to show my results.