Monday, August 26, 2013

Genetic Testing Results

The results for Jack's genetic testing came back and everything was negative. He did not have any of the connexin mutations. There is also a mitochondrial mutation that can make people more susceptable to gentamicin induced hearing loss. Jack was negative for this as well.

Everyone was pretty sure the drug interaction between the gentamicin and lasix caused Jack's deafness. However, they did say there was the slightest chance he could have had one of these genetic issues. I am glad he does not have any of these genetic issues, but it makes me pretty mad that they did this to him.Anyone who googles these two drugs can see that they should never be given together. I would also understand if there was no other option but to give him these drugs to keep hime alive, but that was not the case. He got the gentamicin (an aminoglycoside antibiotic) for a "rule out". That means he didn't have an infection, but they gave it to him just in case it came back that he did. He did not, and he never did.

A lot of hospitals are moving away from using gentamicin, especially in the NICU population. Here is an interesting article about that subject.
A lot of places say they are still using it. They say it is a good drug because it is cheap and it is broad spectrum. In Jack's case it is certainly not cheap. The cochlear implants and associated therapy for his lifetime will certainly be in the millions. The implants alone will be $250,000. That is just one surgery.

I am currently trying to work out the financial part of his implant surgery. They are saying the insurance will cover only 80% of it because they are out of network. There is not anyone in network who does this surgery so I am hoping they will pick up more of it since 20% of it will be over $50,000. The NICU had also applied him for medicaid. He was eligible for despite my income because he was under 1200 grams. I am now trying to find out if that is still in effect and if not if there is any way I can get him on it. I am hearing conflicting information, but there are certain disabilities where Medicaid/SSI eligibility is automatic (such as being born at under 1200 grams) and some people are telling me deafness is one of those and some say it is not. I am waiting to find out officially.

Jack had a CT scan today to check the anatomy of his inner ear and to check the thickness of his temporal bone. He is having all types of testing done to make sure he will be a candidate for the cochlear implant. He was a good sport for the test despite the fact that he couldn't have a bottle after midnight last night. We were at the hospital a bit after 6 and he had the test about 7:30. They gave him a short acting sedative so he was awake and eating shortly after.

Thursday, August 22, 2013

Hearing Aid Molds

Jack had an appointment yesterday for his hearing aid molds. It was at the LIJ Hearing and Speech Center. He was very cooperative. They put a silly putty like substance in his ear and then wait about 5 minutes for it to harden. They did this for each ear.

We also had to pick out the color of his hearing aids. I decided on a metallic blue and black. They had what the called "flesh color", but it was not the color of Jack's flesh, so I decided against it. Even the Crayola crayon company has gotten rid of their "flesh" color crayon since it was not the color of a lot of people's flesh.

The molds will now go to a lab where they will make the part of the hearing aid that goes into his ear. The woman told me that they like to get a very tight fit or else everyone (except Jack) will hear a whistling noise coming from the hearing aid. We will go back in two weeks to pick them up.

The hearing aids are covered by Early Intervention which is great because they cost $1750 each. We were originally told we would get loaner hearing aids since we are hoping Jack will get cochlear implants and then he won't need the hearing aids anymore. I asked about this and the woman said he was already approved so we should just get them. She also said they didn't currently have any loaner hearing aids. I don't have to personally pay for them but it does seem a waste of money. She said I could bring them back when he is finished with them. I think I will find someone who needs them myself and send them to them. So, if you are reading this and need hearing aids for your child contact me and I will get them to you when I can.

I asked her if she thought the hearing aids will help Jack hear. She said Jack's hearing loss was beyond the limitations of their testing equipment. She said it was unlikely they will help him hear but you never know. They have two purposes other than helping him hear. One is to stimulate his auditory nerve and the other is to prove that he can't he helped by hearing aids so that the medical insurance will pay for his cochlear implants.

I hope they help him but I am having visions of them making a high pitch noise, the dog howling and everyone freaking out. Jack is able to ignore all the chaos but no one else is. Should be interesting.

Even though I am very aware that Jack is deaf, (or to be politically correct, I should say he has profound hearing loss) it is still a killer to hear them say, "his hearing loss is beyond the limits of our testing equipment." Julianna has no problem accepting it and Jack has no idea that anything could be different, but it still sometimes gets to me. I am not sure I will ever get to the place where it is no big deal.

Jack has been having some issues with his physical therapy. His therapist said she thinks he needs a helmet for his torticollis. I was really hoping to avoid it. He made great strides with therapy at the beginning. The therapy still seems to be helping him, but it is going a lot slower than the physical therapist would like. She said it will get harder and harder to correct as he gets bigger so we should do everything possible now. The helmet is weighted so it will force him to tilt his head to the left instead of always to the right, which is what he is doing now. He can turn his head to the left now. At first he couldn't go to the middle or the left. It seemed like his head was fused so he was turning all the way to the right. He has made a lot of progress and he can now go to the middle or the left, but he generally prefers to have his head turned to the right.

I asked the therapist if the helmet covers the ears. She said it does. I asked her how that would work with hearing aids or the cochlear implants. She said she didn't know since it had never come up before. She said they want the babies to wear the helmets 23 hours a day. I asked her how it would work if he wore his hearing aids or cochlear implants (when he gets them) in the day time and the helmet at night. She said she wasn't sure about it but she would find out. I really like his physical therapist. She has a former preemie herself, a 24 weeker, so she gets it. Her daughter had a bunch of issues but she is doing better now, although she still has significant visual impairment from having retinopathy of prematurity. She lives in Wantagh School District as well and said they are really great with special needs kids and offer a lot of services. That is good to know since it looks like we will be needing a lot.

Jack is still working on general body movement. He is still not rolling over at almost 9 months old (5 1/2 adjusted). My friend's baby is 2 1/2 months old and rolling over. All the babies in his class are sitting up. I know you aren't supposed to compare but it is tough not to. I can't help but wonder if we will ever get to the point where he is walking. He can bear weight on his legs and that is a good sign, so I hope we get there. It took him forever just to have head control, but it looks like he has that down now. I take some comfort in knowing that Julianna was very behind and eventually caught up. She was only 6 weeks early but she was many months behind in just about everything. No one would ever know that now. I hope Jack follows in her footsteps!

We still have physical therapy twice a week, speech therapy once a week and cranio-sacral therapy once a week. I do exercises with Jack constantly. I am hoping it all works. He is so happy and he laughs through all the exercises. Sometimes it hurts him and he gets mad but most of the time he is smiling and laughing. He just loves Julianna and he is happiest when he sees her. I try to get her to sit on his left side so he is forced to turn that way to see her.

Jack has a sedated CT scan on Monday. The scan is to check his inner ears and to see how thick his temporal bone is. It has to be a certain thickness in order to anchor the cochlear implant. Sometimes babies do not have a thick enough bone and the surgery has to wait until they are older. They are also going to check to make sure all his inner ear structures are present. He has an appointment with his doctor tomorrow to be cleared for the sedation.

On Tuesday night I went to the Jimmy Buffet concert at Jones Beach. While I was there I remembered the last time I saw him, four years ago. On that day I was told by a doctor that the hormone status of my cancer was the worst case scenario ( I later learned that was untrue due to herceptin) and it was an 8 out of 9 on the scale of how aggressive a tumor can be (Bloom-Richardson scale). I made me think about how things often turn out a lot better than we think they will. I made it through that. Jack made it through his 106 day NICU stay where I heard over and over how he might not make it. Julianna made it through her early issues.  Maybe I will be able to bring them with me in a few years and they will BOTH be able to sing along. How cool would that be?

Monday, August 12, 2013

Updates - Genetic Testing

I haven't been keeping up on this as much as I would like. It has been a pretty busy summer so far. 

I took Jack for his genetic testing on 7/30. We went to Long Island Jewish. It took me about 3 months to get this appointment. I had to take the day off to go. They made us wait a long time and I always hate that.

When we got in there were two women there. The room was about 5 x 8 and we (Jack and I ) and the stroller were also in there. The woman started telling me what a gene was, what a chromosome was, etc. Pissed me off again. Why do they automatically assume you are an idiot? I explained to her that I was a biology major in college and I had a pretty good genetics background and I really just wanted to get the tests done. (Not a kindergarten level genetics lesson.) I told them we were supposed to have the deafness profile sent to Iowa and then a few more tests due to his cleft palate.

They then informed me that we couldn't do the deafness profile. The deafness profile gets sent to Iowa. The lab there is not a New York State accredited lab. Because they are not NY State accredited there are only so many tests from NY State they can do each year. They told me that the NY State limit had been reached the night before we got there. They told me we can send a few tests locally but we can't get the whole profile done. She said I can come back in January to have that done or I can go to another state to have his blood sent. Great. I waited three months to get in there and they can't send what I wanted sent. I hate LIJ. Immensely.

So we sent a few things and they said they will call me when the results come back. Luckily I do not have to go back there and have them hold my hand while they give me the results. I had to do that when I went for the genetic testing (BRCA) after being diagnosed with breast cancer. It was strange that they can call you up and tell you that you have cancer but they can't tell you the genetic test results unless you come in. They say it is because they wouldn't want to give you upsetting genetic news over the phone. But they can tell you that you have cancer over the phone. Go figure.

We should get the results in a few weeks. Until then we are working hard with physical therapy, enjoying summer and having fun!