On March 26th, we went in for Benson's appointment with Dr Sakonju and Dr Swoboda. These doctors are considered experts in the field of SMA. The closest expert to us here in Missouri is a doctor up in St Louis. We considered going to this doctor for a while but finally decided to stick with Swoboda since we have already established care with her and because she is doing clinical trials. After this appointment, I may change my thoughts on that, but we'll see. Anyway, we arrived at 9am, which was slightly late. Never a good start to a stressful appointment. Benson hates going to the doctor and Jon had to check his heart rate and breathing since he was freaking about the nurse touching him. His darn cough was still going (and is still going) so we weren't able to do versed for the EMG. So Jon sat on the bed and held him while Dr Sakonju worked as quickly as she could to get a reading on the neurons. The EMG or CMAP basically tells us if he is losing neural responses. I had to have Dr Sakonju re-explain this to me and I think this is the layman version of what she said. They get a number that represents how many neurons are firing in a particular area. Last year Benson was at around 3.5, this year he is at 2.1. This was slap in the face kind of bad news. And a total shocker because he seems to be so much stronger than he was last year. I asked the doctors and they kind of seemed to think that it was possibly a result of him learning to compensate despite further deterioration.
The whole visit was somewhat chaotic. Benson was crying most of the time, and this seemed to make it a little stressful for everyone. I am probably somewhat over sensitive to doctor's bedside manner. I expect a doctor to have respectable social skills as well as extensive medical knowledge. I just wasn't overly impressed with the first half of this visit as far as bedside manner. We didn't see Dr Swoboda until the second half of the visit and I feel she is easier to talk with, but Benson had also calmed down by then and wasn't causing quite as much havic so maybe I should give them the benefit of the doubt.
I still can't get over a conversation I had with the nurse. She was asking about his bowel movements. Probably TMI for the www, but lets just say her and I have different opinions about what is regular but we both agree Benson is not regular. We also have different opinions about how to achieve said regularity. Granted, she is a nurse and she works specifically with SMA. But I'm a mom
living with SMA. I switched from giving him Miralax after reading it can cause neurological problems if given long term. I am now giving him magnesium citrate, which can cause diarhea or absorption issues if given too much. Her question to me, "Who told you to do that?" kind of blows me away. I wasn't aware I had to ask permission. Again, I didn't love the bedside manner.
I could go on, but I won't. Suffice it to say, after the first hour and a half, I was feeling like the most negligent mother in the world and like Benson was declining at an exponential rate. He has only gained a few ounces since last year. Yes, that was
ounces. But, he has also been sick for a while so it is possible he has even lost a few more ounces in the past couple weeks. Either way, he's off the charts in weight. Everyone is concerned about this, of course. I have talked with the dietician extensively about doing a GTube or just trying to keep him sustained long enough to get through the picky phase. It's a never ending debate. It's a decison we won't come to lightly if we ever do decide it's something that needs to happen.
The other issue is the night waking. He had a pulse oximeter in Utah and has oxygen sats were always pretty good. He dropped a few times, but less than 2 minutes total throughout a night. A pulmonologist reviewed this and wasn't concerned. However, we haven't had a pulse ox since coming to Missouri, so it is possible this has changed. I scheduled an appointment with the pulmonologist here in Springfield, but it isn't until June. Dr Sakonju was really surprised I haven't seen the pulmonologist here yet. Apparently she felt he should be more first contact. But when we saw the pulmonologist in Utah, he said we didn't need to come back for a year. So I wasn't concerned. Considering how many doctor and therapy appointments we have every month, I was okay letting that one wait until the year mark. I digress, basically they are recommending a sleep study and probably bipap. The idea makes me cringe. But, there is nothing we can do until June and I'm sure he will be fine in the meantime.
So the second half of our visit we talked with Dr Swoboda. She gave us the option of putting Benson on valproic acid or Depacote. This is a seizure medicine that has shown to somehow protect the neurons for the disintegration caused by SMA. There isn't a clear reason as to why, but it for some reason works. There are some very risky side effects however. Dr Swoboda said she is the only doctor still prescribing this particular medicine for SMA because of the significant risks. The biggest risk is that 1 in 10,000 will develop liver failure and it can be fatal. Another possible side effect is learning disabilities. Dr Swoboda isn't convinced that the learning disabilities are actually caused by Depacote. Since the drug is only given to young children, that aren't school age yet, they may have developed the learning disabilities regardless of taking Depacote. Anyway, these were the two biggest factors for us and we ultimately decided not to give him any.
The other thing we discussed was possibly getting in on some clinical trials. Currently underway are some trials with the pharmaceutical company ISIS. There is a possibility we could get into this trial sometime next year. Another company called Repligen is also doing trials. She recommended we contact a doctor in Maryland if we are interested in doing that trial. Clinical trials are a bit scary to me but also kind of exciting. There are definitely risks, but also possibly some huge benefits. It's a hard decision to make and I don't know enough about either drug at this point to say whether or not it would be something we would be serious about. If a drug isn't going to present some serious advantages, I don't want to risk serious side effects.
So, the second day we went back for his physical therapy evaluation. I was really proud of him for showing off his skills. He did some good rolling. He is really good at rolling from his back to one side. His arm gets stuck a little when he tries to go all the way around but with a little help he can make it. We did some tummy time and he can lay on his tummy and hold his head up for 7 minutes. And we supported his elbows and helped him get in position to hold himself up with his arms fully extended. He hyper extends his elbows when he does this, but with a brace I am pretty sure he could do this better and I wouldn't worry about the joint quite so much. We also put his AFOs on and some knee immobilizers and he stood on his very own, without me touching him for a solid second. He can stand for a full 15 minutes when I give a little support, mostly balance. He also played around on some of the sit and ride cars and we tried to teach him how to push himself. He worked really hard and earned the toys he got so I was really proud of him. Donata, the PT, was much more positive about where he is at and made me feel much better about his progress. She said he is definitely a solid type 2.
Towards the end of our visit, a mom and her son were at Primarys for the ISIS trials and she came over and talked with us for a little bit. It was so nice to talk with another SMA mom face-to-face, not via Facebook. She has two kids, both with SMA type 2. Her son is 5 and even though he is a type 2 because of the physiology of the disease (he has three back-up SMN2 copies like Benson) he is actually a type 3 by function. He can walk! It was so amazing to see. She also has a daughter that is a type 2, and she is 2 1/2 yrs old, but she is significantly weaker and is unable to crawl anymore. It was really interesting to talk with her and hear her experiences with things and how she gets all the equipment they need.
After the first day I felt like Benson had lost so much on the CMAP because I wasn't doing enough. I didn't have him doing the cough assist regularly, I didn't have him on bipap, and he wasn't getting enough nutrition. After the second day, I went back to feeling like life could carry on as usual and Benson was going to be okay. Sure, there is room for improvement (especially in the nutrition department) but it's things we are just going to have to work on day by day. This disease is hard enough without being depressed about it.
