Friday, September 24, 2010

When did you know when something was wrong with your child and did you care if you had a diagnose?

I can never forget the first time I seen my little Bug. I knew it was a day that would change my life forever. I also knew in my heart that we would adopt her and I would only be her foster mom/ Great Aunt for a short time.

I can still remember searching for my sister-in-law and wondering why she didn’t meet me at the location. I was walking down the busy LasVegas Airport corridor filled with way too many people, slot machines and so many excited people glad to be on vacation. Then I saw my nieces. I seen her sitting on the floor holding Bug up and she was leaning her whole body on the chair like a floppy rag doll. My older niece had a hold of her legs and back. Just seeing her for the first time I felt so much love for my great niece and I thanked God for this little girl. I also knew that she wasn’t healthy as my sister-in-law indicated or the social workers had said she was a happy healthy 9 months old. I picked up this smiling little baby and hugged her and I knew in my heart that something was wrong. I knew that minute that she had the blood clotting disorder that had taken my father’s and brother’s life at 37 and 38. The same disorder that affected so many in my family that was just diagnosed only a year ago. Too late for my father and brother . It was like my Savior was telling me get her tested immediately. It was just one of those odd moments that you know that you know.

After spending a few days to meet with the social worker and to have Bug get to know me before I had to fly back to Denver. I observed her and couldn’t understand how in the world could they say she was sitting and crawling. I didn’t see it and they assured me she was on track that it must be the stress of a new person in her life. Then I had a concern that she was regressing. Bug had taken to me the first day that I seen her and let me do everything for her. I couldn’t wait to get back home with her so she could meet my beloved.

One of the requirements was to establish her with a pediatrician immediately. I had explained my concerns and he had agreed that she needed to be tested and that her muscle tone was extremely poor and that we would have to watch to see if she regresses any. We got the test results back and it confirmed that she had the disorder. We then were referred to the children’s hospital hematology clinic for further evaluations.

Bug was diagnosed with having had a stroke at around 10 ½ weeks is when they figured it happened. That was the time she was removed from my nephews and his girlfriends care That explained the lack of crawling, and other milestones an infant her age should be doing. I was told that she would be developmentally delayed and she will catch up in time.

At the time I accepted it but, something still nagged in the back of my mind. Why does she cry in the car seat? I didn’t matter if it was a 5 minute drive or a 30 minute drive. I don’t know how many times I checked the seat. I adjusted the belts, made sure nothing was pinching her, and even tried a different car seat. She sounded like she was in pain. Why does she jerk up and down grabbing the straps of the car seat during those screams grunting? She no longer cry’s in the car seat but she still grunts and pulls the bottom belt up and down to this day! Don’t even ask about when we moved from Denver to Kansas when she was 16 months old. It was the longest most nerve racking drive I have ever endured and we had to stop every hour to just relieve her. I felt so horrible for her. Why does she hum all the time and has been since the first day I seen her? I can remember teaching her to say mom because she was constantly going mmmmmmmmmmm. I remember going mmmmmmmom over and over. It was her first sweet word however drawn out that m sound was. Why does she gag on so many baby foods flavors, and meats she would scream in protest? Why does she seem so uncomfortable with certain clothes, socks and shoes? She would let me pick her up and hug her but it was not to be cuddling for long than a minute. She seemed to dislike being confined. That was just a few things of her bizarre behavior.

This was the very day she fell in love with dandelions.
 she was exploring the back yard for the first time.

I can remember her walking on her tip toes since the day she learned how to walk. I can still see her exploring our backyard at the new house. It was filled with dandelions and she was 16 months old. That was the day she fell in love with those weeds. She was obsessive with certain objects, things being in order and everything having to be in two‘s and 10‘s. Yet, she didn‘t know how to count. How did she know one was missing?. Constant problems with going to the bathroom. The meltdowns where becoming worst. I was wondering what I was doing wrong. Every time I inquired about things I was told it was the result of her stroke. I wasn’t buying it anymore. I knew something was wrong with her. After the adoption was complete at 3 years of age my journey began  from many visits to specialist, hours of reading books and searching the web.

Moms be persistent, if you feel something is wrong. Trust you instincts you are your child’s only voice. The specialist only see your child for a short appointment. It never fails you go to an appointment and they are acting somewhat normal!!!

I kept getting the same answers but, I didn’t let it deter me from having answers. Finally, after seeing a neurologist, behavior specialist for diagnose and many other specialist they didn’t know where else to send me. I think they got sick of hearing and seeing me and sent me to a geneticist. She was tested positive for the Sensory Processing Disorder by an occupational therapist a few months before. Much to my surprise many specialist in the medical field frowned on SPD as a diagnosis in children unless they had autism or other syndromes.

The test came back abnormal; a 299 kb deletion within the chromosome band 20p12.1. This area around the gene has been proposed as a candidate gene for Kabuki syndrome. They told me that this deletion suggested that it could be responsible for her challenges and physical characteristics. They didn’t want to label her Kabuki because of it being a rare syndrome. Even though it is considered a spectrum syndrome she was all over the place in syptoms and some physical features. Bug didn’t have some of the more complex issues. Even though other children had similar facial features, or health issues that didn’t resemble the standard Kabuki child. They were diagnosed as having it. They told me that if could just be a variation of Kabuki or a new syndrome in itself. Her deletion is in the same area of the proposed gene for Kabuki and not on the exact place but on the same band right on top of the proposed deletion. Thus a possible variation or a new syndrome. The geneticist after I pounded him with questions about other things I found on the Internet concerning other children admitted that another geneticist might say she has Kabuki. I didn’t want them to pacify me and tell me it was this syndrome. I wanted in details why they felt this was not 100% diagnosis. I drilled them until all my questions where answered to some satisfaction. I am sure some Dr‘s dread all the available information online.

I am surprised at all the negative feed back I have heard and I hear that other mom’s  that deal with the same issues from friends and relatives with getting a diagnosis. I know mom’s who don’t want their child labeled as special needs because it will be with them forever if they label them. I just don’t get it. Or I get asked, why does it matter if I know what she has? Just face it she is a little different and move on. The worst part is that you don’t see a profound handicap and they don’t think nothing is wrong because they may only see her once a week or less. They are not with her 24/7. Others comment that she will just grow out of it. I have also heard that they don’t want their child to be pitied or to have pity from others. Who’s asking for pity, I hope they didn’t think I was seeking it! I even had one mom ask me, “if I was trying to get disability for her so I can get money!” I was absolutely appalled that anyone could be so rude! I am not implying everyone I talk to is negative.

Why do I want to know what is wrong? I am not into medicating a child just to do it. I do believe that there are way to many over diagnosed people in our world and the diagnosed could even be wrong just because people in general want a name attached to every ache and symptom.

I want to be prepared for the future. What if this is some kind of a variation of Kabuki or some unknown syndrome that could affect her in unknown way. Maybe, it could help some other child if and when they find someone else with this deletion. That child may have something more profound in symptoms that could be life threatening.

I want to nurture my Bug with the best of my abilities. I don’t see her being able to care for herself when she is older at this point. As much as I try to teach her life skills she just doesn’t seem to have that ability at this time. Of course, I would love to be proven wrong with my thinking. As a homeschooling mom I want to teach her with knowing what I am facing. Is that so wrong. I know I may never have answers. This is my last round of specialist at this point in my journey. I want a second opinion now that she is older. This is the age that most children can be tested and from what I understand the specialist can diagnose her with more accuracy at this age level in general. At least I can say with peace in my mind that I have done my best.

We had Bug tested this week for cognitive, neurological and educational this week. The Dr. at the last minute wanted to have her retested in the Autism/Asperger spectrum now that she is older. She was tested two maybe three years ago for it. We go to a new neurologist next week and we also have updated information since or last visit to the previous one. Then next month we visit with a new geneticist to see if we need to do any different testing. Or they may have other ideals on whether to proceed in a different direction. This will occur in the next few weeks. Maybe, we can put all the puzzle pieces together and see if it gives us any new insights.

Don’t be so critical for those moms who want answers. I can respect your choice for not wanting answers. Just respect my choice and many others parents like myself who want answers. We don’t want pity, or attention or monetary gain. I will not accept a diagnosis just to satisfy my longing to know. Our bodies are wonderfully created by my Savior Yeshua(Jesus). We are much to complex for man to know all the answers. Many blessings and keep all of the new appointments we have coming up in your prayers.

1 comment:

  1. Sometimes people speak out of ignorance. I bet those people don't realize that in order to get services for your child, they must have a diagnosis. I can not tell you the stories I have read and heard where parents knew services were needed, but insurance or the medical profession would not give approval or perform those services all because the child did not have a diagnosis or had a diagnosis that did not "need" the service (s) the parents were asking for.

    Maddening. And down the line some of these same people are the ones that will question why certain services were not given in the first place.


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