Up until recently, I have had mostly very positive experiences with the medical profession. Everything surrounding Parker's conception, pre-natal care and her birth was fabulous. Last week, we received a call from Dr. DHM (our fertility dr.) saying that they had received notification that our donor's sperm had been used to conceive a child who has Spinal Muscular Atrophy.
I freak out. That's what moms do - right?
So, I call the genetic department of the sperm bank and a VERY nice woman talks me through what this means and all the nitty gritty details. She then sends me several documents regarding the disease and our specific situation.
I calm down. Parker has just a .5% chance of actually having this disease and she hasn't yet displayed any symptoms. However, she has a decent chance, 50% I believe, of being a carrier for SMA.
Backtracking, SMA is a recessive, degenerative muscle disease. Most people are affected as infants, with the diagnosis usually occurring between 3 and 6 months. When this happens, the prognosis is fatal. There are less severe forms that can occurr in toddlers or adults.
So, in order for Parker to have a possibility of having SMA, I too, would have to be a carrier. The genetic counselor at the sperm band recommended that we get Parker tested to know if she is a carrier (or has the disease) and that I also be tested so that we could make an informed decision about using this donor in the future.
Now, the fun starts. First, I called my doctor. They just flat out won't do it without someone else ordering the test. Okay.....I called Parker's doctor. The nurse was fairly rude and didn't understand the situation. She kept asking me if this was a neighbor or someone....did she think we got sperm from our neighbor????? (She clearly has not met our neighbors!) She tells me that she thinks we should wait until the donor has been positively tested for SMA. I tell her to go ahead and talk to the Dr. anyway. (The positive test results arrived the next day.)
Today, they call me and direct me to some doctors specializing in genetics. So, again, I call.
The woman is obnoxiously rude. After giving me the run-around for about 10 minutes, she says she will schedule an appointment. The earliest they have is October. WHAT? Whatever. I schedule it and call the next person.
The next woman was nice enough, but she was SOOOOO dumb. At first, she thinks that Parker is pregnant and could potentially have the disease. (After I clearly stated that Parker is MY daughter and is 8 months old!) Then, she puts me on hold for like 10 minutes and comes back giving me the number for some pre-natal place. I asked her why I needed to talk to someone in pre-natal and she said it was because I was pregnant. I'M NOT PREGNANT! Parker is 8-friggin-months old! Finally, she gives me another number to set up an appoitnment.
The last woman, Iris, is impossible to understand on the phone. She mumbles like crazy and my cell is kind of dying and it's pouring rain. This is a recipe for disaster. I explain the situation. At least, she understands. We fumble through me giving her my information. She is apparently as dumb as a box of rocks and can't spell anything. She asks for my husband's name (that's always my favorite - especially after saying that I used donor sperm -not that married hetero couples don't use donor sperm, but it should at least put up a flag...right? You would think people like this wouldn't make assumptions). In, general, she's pretty crabby with me. She tries to tell me that they should have tested for that and the Sperm Bank should do the test. I tried to explain to her that they can't test for EVERYTHING and regardless, we signed paperwork saying we understood stuff like that. Plus, they are in California! So, she makes an appointment, but says that they won't test asymptomatic children. Parker will have to wait until she is 18. Fan-friggin-tastic. I made an appointment. Lord knows I don't want to go through that again, might as well make one and then cancel. This one is at least in June.
I feel like I am being given the run-around by everyone. Every single person I talked to today tried to tell me that I needed to talk to someone else (although they generally did not know who.) Most people were rude and dumb. Awesome. I just want to make sure my baby is okay and try to figure out where we go from here as a family and no one is trying to help me. I hate it.
Yowsa! This sucks! I just hope your insurance doesn't get involved and be big jerks! I've spent more time on the phone with the insurance company and the "after" the doctor stuff than I would ever like to admit to! What a pain!
I'm sorry that you are having such issues with the Dr. offices...that's why I hate Drs but don't tell my husband that ;). Will be thinking about you guys. I'm sure everything will be fine!
Oh no! They scare you with that information and then no one is competent enough to help??? I'm sorry that you guys have to go through this... at least she's over 6 months at this point... I'm sure it will be okay. Keep us posted...
Your blog showed up on my google alert for SMA and I felt compelled to write you. My daughter has the most severe case of SMA and you would see it by now if it were the case in your daughter. There are lesser degrees of it so it is a good idea to get tested. Try Ohio State or the U of Penn. I don't know who to refer you to there but it's a start. Sorry for your frustration, maybe they won't be such idiots at the universities.
Hi. Your blog also came up on my google alert for SMA. My daughter, Gwendolyn, also has Type I, the most severe form. In the 19 months since her diagnosis, I have learned more about this topic than I wish I had to. You or your daughter can be tested very easily. Any lab can take your blood and then it has to be sent off to a specific lab for the result. Here is a website with the info about the labs that do this: http://www.clairealtmanheinefoundation.org/find_lab.asp
I hope your daughter does not have SMA. It is a cruel disease and far more common than people realize -- 1 in every 35 people are carriers. But, as you have learned, genetic testing has not caught up with the latest statistical information. If she does have SMA there are organization and parent support groups to help you navigate the road ahead.
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