We got a call yesterday that the DNA tests are complete and that Samantha definitely has GAMT . One of the mutations is a known mutation, but the other is a new mutation that has never been identified before. Trey is hoping he has the new mutation (haha). The genetic counselor mentioned having Trey and I have our DNA tested as well so maybe we will found out who has which mutation. Regardless, things are official.
Samantha has yet to say "Mom, let's go to Disneyland" but she seems to be blossoming each day in different ways. That is, each day that she hasn't been sick. It seems like when she has been sick she has been crabbier than I have ever seen her. She is getting quite the attitude which I think is probably a good sign of independent thinking. Instead of going in the back yard and disappearing to play on the side of the house with non-toy items, she is swinging on her own, following Ellie into the playhouse, sliding etc. She is watching other children intently as they play at our house and just seems to be soaking in a lot more in general. Today we were outside and Ellie said, "Look mom, birdies" and Samantha 1-turned and looked at the birds, 2-pointed and 3-said "bu". Each of these is a developmental achievement and the combining of all three is totally cool to see her doing.
We went to see the pediatrician last week and I told him about the diagnosis and he was really surprised. He said "that is really unheard of that the neurologist would order an MRI for a five year old with seizures, especially the spectroscopy. Usually if there is a metabolic cause, seizures would have shown up in the first year or so." He also said, "Wow. We never get answers. I am getting chills. I can't believe this." All of that just confirmed in my mind that Sam's neurologist was inspired. If he had just sent us home with a prescription and a follow up in six months we would have no clue and I hate to think of what road we would be on now. I need to think of the perfect gift for that doctor to say "you changed my life. you rock".
The diet is pretty easy now and with the discovery of the flavor-concealing abilities of the "super juice" from Trey's work, I can now get Samantha to gulp down her creatine. She gags when I try to give her the medical food so we've yet to conquer that, but all things in time...
We had an evaluation yesterday with Bob, the founder of NACD and here are the cliff notes. Bob reaffirmed our belief that Samantha will talk. He told us that he sees kids her age begin talking all the time and that his own step son couldn't follow single step directions until he was seven and didn't speak his first words until he was nine and is now speaking in full sentences. I expressed how frustrating it is that every teacher and speech pathologist wants to say "let's teach her signing or use picture cards for communication" and he said "well, it is a lot easier to teach a child that they can't talk". I totally agree.
He also confirmed that this is a whole new chapter for Samantha and that we should be full of high hopes for her. He recommends that we try sending her to kindergarten and if it doesn't turn out to be a positive experience for her, we pull her out. The big change regarding program that he recomends is involving Ellie in program as a constant role model for Samantha. I had the epiphany as we were talking about the struggles of getting program done that I need to schedule my day to do program with all the kids during set times and forget about the program checklist.
In the adult work environment, checklists were very motivational to me and gave me a sense of accomplishment and direction, but working with Samantha is 100% different. There is no immediate pay off and things take days, months or years to really check off. So, I am going to focus on keeping a positive and healthy atmosphere with program sprinkled in.
Don't misunderstand all my lofty goals and ideals... I stress out, freak out, and tire out all the time. I am not a perfect parent. I think parenting any child is a learning experience and noone's born knowing how to do it just right. So, good luck to us all ;)
7 comments:
"that is really unheard of that the neurologist would order an MRI for a five year old with seizures, especially the spectroscopy. Usually if there is a metabolic cause, seizures would have shown up in the first year or so."
I have to add that the above is wrong!! I am surprise to hear it from a pediatrician however, after having experience with my previous pediatrician I ma not surprise. I bet you that the pediatrician did not know what is GMAT (and creatine deficiency) until now. I will not take my children to him.
Brain disorders as a result of metabolic cause may not have seizures. In case of GAMT seizures may appears at younger age not necessary at 1. In fact, most GAMT cases (in the medical journal) did not have seizures until age 3 or so. Low muscle tone and development delay is the first sign. For example some people with CRTR, which is another creating deficiency syndrome, may not have seizures.
He admitted that he had never heard of GAMT. I am not surprised since it is so recently discovered and there are so few cases diagnosed so far. I do think there are probably a lot of kids that have this disorder who are not being diagnosed and there should be a newborn screening for it just like so many other disorders. It is frustrating to not have a pediatrician doing all the right things and making these discoveries, but at this point I am grateful to know what I know and work forward from here. I am a lot less frustrated with the medical community now than I was two months ago because I have my answers and I can't change the past. But I do wish things could be different for families struggling so hard for answers. As advanced as modern medicine is, it obviously has a lot further to go.
That is great news, keep posting!
This is all so exciting. I really think this is a whole new chapter for Samantha too! I think she'd do really well in kindergarten! I'm so thankful you guys have the answers you needed and that you have the positive assurance of what to do and how to handle it. I believe Samantha will talk too! I'm so proud of her and the awesome strength she's got. She's one amazing little girl.
Heidi...Hi, I'm a friend of Gaylynn and Ron Mortensen. I would love to meet you and Sam some time. I'm sure that Gaylynn has told you that I have my own Sam. Your discoveries have left me with lots of questions about his developmental delays that are "a mystery" thus far to the medical community. I might have to look into creatine deficiency.
Wow, what a journey!! I admire all that you do!
Shauntel- I have heard of you through Gaylynn and would love to meet up sometime. Gaylynn mentioned a while ago having lunch when you're in town. Have they done any tests on Sam?
Awesome!
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