Her head turned to the left like her muscle was tight and she was diagnosed with Torticollis which is a stiff neck, so in November 2010 we started physical therapy.
The physical therapist identified that she had low muscle tone or Hypotonia. She said she ha mild low muscle tone. She worked and worked with Maddie to loosen up her neck and I would give her the 5th degree on her other patients with low muscle tone and she would never give me a straight answer, basically saying all kids are different. That didn't stop me from asking questions and I think when she realized I wasn't going to stop, she said some of the causes. Then I started researching everything and would come armed with specific questions, do you think she has a genetic condition, do you think she will walk, do you think she has brain issues?
Around Maddie's 3 month well baby visit, the doctor measured Maddies head circumference went from 50% - 95% percentile which was cause for concern. There really wasn't a possible mis measure, so they ordered an ultrasound to make sure there wasn't excess fluid or a tumor or something else that would cause an increase, and some times it's normal. Fortunately the ultrasound came back normal.
As I continued to discuss my concerns and questions with Maddie's pediatrician, she was very supportive and understanding. I've heard of other pediatricians who dismiss the parents concerns saying all children are different, if that was the case I would have gotten a new doctor.
In December, Maddie had her first ER visit due to wheezing, where she received some breathing treatments and the wheezing subsided. Then we started seeing a pulmonologist and started her on some flovent as a daily preventative and got a nebulizer for when the wheezing started to avoid future ER visits.
As Maddie continued to miss or hit her milestones very late, I continued my quest to find out the cause of it. I told my ped that I didn't think we needed a genetic test as I didn't think that was the cause. In Jan/Feb I decided we needed one to rule out genetic issues and she agreeed. We have 2 major children's hospitals in the area and the wait was 4-6 months, so I made appointments at both locations and would call back weekly to see if there were cancellations.
In February 2011, Maddie went to the ER and was hospitalized for breathing/wheezing for 3 days, that was so stressful and a direct result of incompetent workers in our house using the saw inside knowing fully that there were people living in the site. The sawdust made me cough and
poor little Maddie could hardly breath. I was so upset.
The genetist also recommended an MRI of Maddie's brain to determine if her issues were neuro-muscular. The MRI indicated delayed milenation and the nureologist thought it was a result of her genetic issues. Maybe in the future we will have another one, but he didn't think it was necessary. He also didn't think her low oxygen at birth had an impact on her brain.
We finally got Maddie's results in June right before she turned 1 and that was a horrible day. The genetist told me over the phone and wasn't really helpful. For some reason I stayed at work googling all I could about the diagnosis. The next day, my husband and I went in to see the genetist and counselor. They weren't helpful at all and gave me the documentation that I had already found online, the 4 cases that they had highlighted weren't even similar to Maddie in that they each had one of her duplications and then an entirely different duplication so it's not a comparable case. I was so annoyed at the waste of time and money for this appointment.
My husband and I were also tested and we don't have any genetic issues or carriers for Maddie, it is considered spontaneous or nuevo.
At least we have a cause for her delays and now I won't be googling like crazy diets, cures, and treatments. However, not having anyone with the exact same condition is also frustrating in that we don't know what to expect.
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