I've really never talked about Sadie's hemihypertrophy. What is hemihypertrophy you ask? It is a very rare, congenital disorder (depending on what type of hemihypertrophy it is) in which one side of the body or a part of one side is larger than the other. It's again one of those things that was put on the back burner while I was trying to figure other stuff out. While we were at Sadie's 18 mo check up I asked her pediatrician when she needed to see an ortho Dr about her bones. She replied not until she is older. I'm fine with that. We DO NOT need to add another Dr anytime soon. I then commented about the fact that it really has not been addressed by any Dr and I wonder if it's connected to one of her underlying condition or if it's in a category all by itself. The Dr then stated that genetics should be able to answer those questions.
Of course when I got home from that appt I called the genetics Dr and talked with the counselor. I asked if we had addressed her hemihypertrophy without me realizing it, and if we hadn't could we please look into it. The counselor said that no we really hadn't addressed it, but she didn't want to order the blood tests needed for it because she doesn't want to risk the chance that the insurance company will deny the exome test that we are still hoping to get approved after we see the mito Dr in August. And once again, that test will address the hemihypertrophy tests, along with all the other issues that we want her to be tested for. I agreed to wait (why not, it's the story of Sadie's life, right?). However, the next part that the genetics counselor said did not make me happy. She then continues to tell me that kids that are diagnosed with hemihypertrophy are supposed to have abdominal ultrasounds (US) and blood work done every 3 MONTHS until the age of 4 yrs old and then every 6 months until the age of 8 years old. WHAT?! 1. Why? 2. She was thought to have hemihypertrophy around 8 months old and I'm just know hearing about this, 10 months later? That's ridiculous! Someone dropped the ball. Surprise!
I asked her to explain why. The counselor explained that "hemihypertrophy is an overgrowth of cells. This overgrowth affects all types of cells. Sometimes this overgrowth of cells causes tumors on abdominal organs. These tumors are cancerous. So the US and blood work are performed every 3 months so that the tumors are caught early and can be taken care of right away. Survival rate from the cancer is extremely high. The chances of getting these tumors is about 6-8%, very rare chance". "GREAT!" I said, "very rare, just what Sadie is known for". I was slightly irritated with this news. Not so much the news itself, but the fact that it was 10 months ago that we first noticed this and no one informed me that we needed to be checking for tumors. So I asked who should be ordering these tests and she said it was either themselves, the pediatrician or the ortho Dr. Since, we don't have ortho, it can't be them. So she stated that they will write a letter to her pediatrician and ask her to be responsible for these tests. Whatever! Passing the buck is what I call it, but as long as it is getting done now, who cares who is ordering it.
**I wrote the first part of this post a few weeks ago, but never published it.**
Sadie has now had her US done and very lucky for all parties involved there was no tumors found. Other stuff was found, but that is for another post. The blood work was not done however. 1. Because there was miscommunication between offices or something. and 2. By the time it was all figured out it is close to other blood draws that are coming up so I assume just wait at this point and poke her all at once.
Of course when I got home from that appt I called the genetics Dr and talked with the counselor. I asked if we had addressed her hemihypertrophy without me realizing it, and if we hadn't could we please look into it. The counselor said that no we really hadn't addressed it, but she didn't want to order the blood tests needed for it because she doesn't want to risk the chance that the insurance company will deny the exome test that we are still hoping to get approved after we see the mito Dr in August. And once again, that test will address the hemihypertrophy tests, along with all the other issues that we want her to be tested for. I agreed to wait (why not, it's the story of Sadie's life, right?). However, the next part that the genetics counselor said did not make me happy. She then continues to tell me that kids that are diagnosed with hemihypertrophy are supposed to have abdominal ultrasounds (US) and blood work done every 3 MONTHS until the age of 4 yrs old and then every 6 months until the age of 8 years old. WHAT?! 1. Why? 2. She was thought to have hemihypertrophy around 8 months old and I'm just know hearing about this, 10 months later? That's ridiculous! Someone dropped the ball. Surprise!
I asked her to explain why. The counselor explained that "hemihypertrophy is an overgrowth of cells. This overgrowth affects all types of cells. Sometimes this overgrowth of cells causes tumors on abdominal organs. These tumors are cancerous. So the US and blood work are performed every 3 months so that the tumors are caught early and can be taken care of right away. Survival rate from the cancer is extremely high. The chances of getting these tumors is about 6-8%, very rare chance". "GREAT!" I said, "very rare, just what Sadie is known for". I was slightly irritated with this news. Not so much the news itself, but the fact that it was 10 months ago that we first noticed this and no one informed me that we needed to be checking for tumors. So I asked who should be ordering these tests and she said it was either themselves, the pediatrician or the ortho Dr. Since, we don't have ortho, it can't be them. So she stated that they will write a letter to her pediatrician and ask her to be responsible for these tests. Whatever! Passing the buck is what I call it, but as long as it is getting done now, who cares who is ordering it.
**I wrote the first part of this post a few weeks ago, but never published it.**
Sadie has now had her US done and very lucky for all parties involved there was no tumors found. Other stuff was found, but that is for another post. The blood work was not done however. 1. Because there was miscommunication between offices or something. and 2. By the time it was all figured out it is close to other blood draws that are coming up so I assume just wait at this point and poke her all at once.
No comments:
Post a Comment