HUNTER'S STORY

March 26, 2003
My name is Cindy Wegner and I am the mother of two boys, aged seven and a half and six. My six year old just celebrated his birthday on March 19th, but probably not the way most six year old's do. He doesn't like large crowds, he covers his ears when too many people are singing too loudly, and he will not step foot near a lit birthday candle. You see, my son has Fragile X syndrome. Fragile X, or "Fraxa" as it is sometimes abbreviated, is the number one cause of mental retardation. However, most people don't know about it, have never heard about it, or it gets misdiagnosed as autism. Fragile X can be diagnosed by a simple DNA test. Many women are 'carriers' of Fragile X, and are not even aware of it. I was one of them. Most recently, my sister has been tested and found out that she is too.

When my seven year old son, Tristan, was born, it was the perfect birth and he was the perfect baby. I remember my mother telling me, "He is such a good baby, I don't know what you'll do if you have another child that is not as good as he is." I frequently remember those words, and sometimes wonder if my mother had a vision yet to be known. Two years later, on February 19, 1997, I again had an incredibly easy birth, and after three pushes, Hunter Thomas Smith entered this world. I only wish I had known then what an impact he would have on my life. He became the truest test of my strength and will.

I noticed almost immediately that Hunter was not going to be as easy as Tristan was. He did not eat well, he vomited frequently and violently, and had horrible colic on top of everything else. I also noticed one of his eyes was a bit droopy. Knowing that my sister was born with a "lazy eye", I inquired to the doctor about it. I was assured it was nothing, just some "excess skin that he will grow into." My maternal instincts told me otherwise. However, I wouldn't know for another 17 months (A lazy eye can be one of the physical characteristics of Fragile X). The weeks and months went by of regular doctor check- ups, and reports of lack of progress. My son was not sitting, walking, talking or even eating at the normal milestone paces that a child should. I knew something was wrong, and finally with the help of the nurse practitioner, I was able to get somewhere and find out. She referred me to the local zero to three program called SPICE for children with developmental delays. We also got a referral to a medical facility that would hopefully be able to tell us what was going on.

As all of this was going on, my already troubled marriage was beginning to fail even more. My husband was always working, and always "stressed or tired" when he wasn't working. He frequently job hopped, always thinking that it was going to be better somewhere else. We lived paycheck to paycheck. I too, was working full time, as a nursing home assistant administrator. I was also trying to finish my bachelor's degree, but Hunter's birth put all of that on hold for a few years.

I took Hunter to the Children's Disability Clinic in Champaign, Illinois, at the Carle Foundation Hospital. We were there for a full day of a battery of tests. I remember feeling very anxious about it, but not expecting any significant outcome. When the day was over, and he was poked, prodded, observed, and given a full medical check up, we were both exhausted. The final step was some blood work. I cannot even describe to you the horror of watching your 18 month old child strapped down to a board as two nurses attempt to draw blood from a screaming hysterical child. That was the beginning of Hunter's dislike of the doctor's office. I remember my concern as I looked at the doctor's order for the blood work. I couldn't imagine that there was anything like that wrong with him. I did think about Down's Syndrome, but he physically did not have the appearance of anything like that. I assumed the blood work would show nothing, or at least rule things out. I was wrong.

Before the results of the blood work came back (these things take weeks), the doctor also ordered an MRI and an endoscopy. More torture for the baby as well as the mental anguish it caused me to watch it. Those are the times as a mother that you wish you could step in the child's place and take the pain so they do not have to suffer through it. When the results of the endoscopy came back, it confirmed what I already suspected, gastric reflux. When the results of the MRI came back, it confirmed something I never suspected. Some of the areas of Hunter's brain showed atrophy. Essentially, atrophy is similar to hardening of the arteries. Some areas of his brain stopped growing, and never would. I was devastated. Two weeks later, a week before Christmas, the final blow came. Hunter was diagnosed with Fragile X Syndrome. I had no idea what it even was, so I went to the Internet and the library to find out. When I realized the magnitude of the situation, I went to bed for three days and did not come out.

Hunter received various services to help facilitate learning and growth. Physical, occupational, and speech therapy were just some of the services. By the time he turned three, his father and I were already separated and on our way to a divorce. I don't know what I would have done without some of the relationships I developed through the SPICE program, and their assistance with continuing Hunter's education. Hunter began Early Childhood Education at three years old. What a waste. His first teacher had no idea what Fraxa was, and his personal assistant at school acted annoyed with him. This is where I learned that I really needed to advocate for what was best for my son. Fortunately, his next two years of school were much better. He has started speaking a little bit (speech is the most significant loss in Fragile X) yet overall still only functions at a three to four year old level. He is not potty trained.
After the divorce, I entered the world of single motherhood. The children were with me the majority of the time, and it was a continuous financial struggle. I felt as though I was drowning and couldn't get out. I made myself be strong for my children, but I cried myself to sleep many nights wondering what I could do. Hunter was sick a lot. He had ear infections, respiratory infections, and many a sleepless night.

Sometimes his behavioral outbursts were uncontrollable and inconsolable. He did not talk. At four years old, he still had the sleeping pattern of a newborn. Some mornings, after a bad night, I could barely motivate myself to get up for work in the morning. It took me almost two years, but I finally got myself back into college. I met a wonderful man that I am now married to, he helped me change my life, and the lives of my children.

Andy Wegner is smart, handsome, and one of the most caring and loving people I know. I am grateful to share my life with him. At 34 years old, he was still an enviable bachelor. He had it all--house, truck, boat, money, and spent his weekends on the tournament fishing circuit. Then he met me. I still don't think that we realized how we would change each others lives, but we did, and we are better people for it. He helped me study for my classes, he helped me with the children. He stepped into a role that most men that were single without children would not have. He pushed me to go on for my nursing home administrators license. He was there on the day I graduated from college. We married in August of 2001.

We are now at the stage in our marriage where we want to have a child of our own. This past summer, we attended the National Fragile X Foundation Conference in Chicago. What a Godsend! It was so wonderful to network with other parents in the same situation. We were able to learn so much and share our experiences with others. One of the educational sessions we attended was on Reproductive Options, and was presented by a doctor from the Reproductive Genetics Institute in Chicago. We learned about a process called preimplantation genetics diagnosis. Basically, what it means, is that eggs are extracted from the ovaries and then tested for the Fragile X gene. Those eggs that are unaffected are then fertilized and implanted through the in-vitro process. It is quite costly, and since it is still in what is considered to be the experimental stage, it is not covered by most insurance plans.

Nevertheless, I have since networked with other women going through this process. One lady is in Massachusetts, and the other is in Nebraska. We are all keeping in touch, and sharing our experiences. We all have the same hope of having a healthy child unaffected by Fragile X Syndrome.

January 28, 2004
I am happy to announce that I am seven months pregnant with a baby girl that was conceived through the Pre-implatation Diagnosis/In-vitro process. I was very fortunate to only have had to go through one cycle of this difficult process before becoming pregnant. Women who are Fragile X carriers often do not respond to the IVF drugs, or it takes many cycles for it to finally work. The reason for this, is that frequently women who carry the Fragile X mutation go into premature ovarian failure--meaning, a woman of 26 or 28 may respond to the drugs the way a pre-menopausal woman of 45 or 50 would. The drugs required are very expensive, and most of them consist of injections, rather than oral medications. At one point in the cycle I was giving myself up to four different injections a day in my abdomen and thighs.

It was pretty grueling, but the end certainly justifies the means. I am anxiously awaiting the arrival of this gift from God. I feel doubly blessed, as I was given the chance to have another child, and it is the baby girl I wanted so badly.

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