Road Trip to Akron Ohio to see Dr. Hertle

Today July 3rd both of the boys had an eye appointment with Dr. Hertle. It has been 8 months since Hunter had eye surgery to correct his nystagmus also known as "dancing eyes" and to adjust his optic nerve to give him a more broader spectrum and to correct his head tilt.
Hunter has not been in glasses since January of 2012 when Dr. Hertle took him out of them because Hunter kept taking them off and they really seemed to be bugging him.

Before surgery Hunter was pretty much blind in his right eye and slightly blurred in his left. Specialists in Nashville TN and Binghamton NY both said they're was nothing that could be done. We thought else wise, and luckily we did because we found Dr. Hertle that is the nations top specialist in pediatric nystagmus and other pediatric eye diseases that require surgery to correct. He is actually the only doctor in the US that will perform this surgery for children. Luckily he is training a team so others will be able to perform this surgery in the future!

The boys had a few test done on them. They did not find any swelling or buildup behind the eyes. Hunters nystagmus wasn't cured from surgery just corrected. It's not noticeable by most people and only happens rarely. His vision has been corrected to the point where he does not need to wear glasses at this point in time. His right eye is now a +1.50 now, which is very good compared to the before. He should only need glasses come the school years where he will need them for reading. Other than than that it dies not in-pare his everyday activities. He does have an astigmatism in one eye that is not affecting his vision at all which may be corrected later with the glasses.
Kingston's cornea and optic nerve was very clear. His vision was excellent as well. He does have two astigmatisms that will be corrected at school age with glasses as well.

I'm very happy with my bits results and glad that their vision will not be holding them back in any way! :)

6-7-12

I got Jeremy to come with me this week for his first time seeing the boys infusions. I think he will say that it wasn't to bad at the end of the day. The IV Team nurse poked Kingston once and couldn't thread it & then took 15 minutes staring at the other arm, so we told her we were calling someone else. Then called up the Ped Swat Nurse and she got him with one stick and Hunter with one as well! Their nurse said they are just going to call them every time from now on. Since then it has all been smooth, and by 11:30 the boys were up to their maximum iv speed of 40 and up to 30 minute vitals. I think it has been a good day so far especially since some days they don't even have their medicine till 11:30. Hunters in his bed watching 101 Dalmatians and Kingston fell asleep on my legs in the crib. Just waiting for lunch to get here and then we will really have some happy kids! :)

EKGs and Echo Cardiograms.

Well today was another long day. The boys got to meet another doctor to view their hearts.
They first had EKG's done on them and the results came back good for them.
Next they had Echo Cardiograms, which is an ultrasound of their hearts. It sure was fun entertaining Kingston on the table while she rubs that yummy warm jelly all over his belly and chest. Try imagining holding onto a 17 month olds hands down with out upsetting him even more. They had a movie playing but it isn't enough to keep them happy especially when they have someone prodding at their bellies.
We play tickle wars and get him to laugh for a little while and then it's over, well until it's Hunters turn 2 minutes later.
And they thought he was going to be the easy one. Hunter can not stand to be contained what so ever, so let's just say the next 15 minutes is really FUN!!
Haha it wasn't to bad. We had fun with bubbles and cho cho trains and watching Clifford. And then before we knew it was all done and over with. We were then headed back to our room and waiting on the doctor for the results.
He came in and told us that their hearts looked good and listened to their chests and felt around on them.
He told us that they both had slight murmurs but it's very common for children of this age to have them and to not worry. He then told us that they had two different leaky valves. One which is also very common for children to have and the other which is common for MPS 2 patients to have. He said they were both slight and can't be heard with a stethoscope. Hunters was slightly more than Kingston's. He said the leaky valve that has to do with Hunters patients usually shows severe affects around their twenties. But hopefully with the enzyme replacement therapy it will help to keep their hearts the way they are so there won't be any severe effects.
I pray that this treatment helps them internally and that it helps from the progression of their suffering organs. Everyones prayers are greatly appreciated. We can't have enough hope at this point in time.

And it ALL begins

This morning at 9am we drove our hour and a half drive to Upstate Medical to the infusion center. We met with the nurses that our going to be taking care of the boys. They explained the whole process and what to expect. They will most likely start the treatment next Tuesday, still waiting for a call from Dr. Pellegrino for the specific time. They told us it will prolly be a five hour process from start to finish. When we get there we will have to wait to get into a room where they will then have to find a vein that will take the IV and then when the IV is in place they will send out for the medicine to be mixed because it is such an expensive drug, around 5,000 an infusion that would be wasted if they couldn't find a vein. After the orders are sent down to the pharmacy in the hospital, it should take about half an hour for them to be ready. After that they will set up a slow drip infusion starting off at 4cc an hour and raising it 4cc every hour all the way up to 16cc. It should take roughly 4 hours with the IV in. After the infusion is done they have to watch them for a half an hour just to make sure they are reacting well to it, each and every time.

Everyone's prayers that the boys take well and do well with the infusion and that they won't fuss much with the IV will be greatly appreciated!!

I am just very thrilled to start them on ELAPRASE, and get them the needed medicine for their disease and pray they stay healthy happy normal little boys!!

Opthamologist Appt's

I took the boys to Dr. Merrello in Binghamton NY who is a opthamologist. Hunter previously wore glasses since he was diagnosed with Motor Nystagmus at 6 months. I saw Doctors at Vanderbilt Medical in TN who told me we could not do anything to help it and also a eye Doctor in Binghamton NY that could not do anything for it other than glasses. We had found a doctor out of Akron Ohio, Dr. Hertle that specializes in Nystagmus. We set up an apt in September of 2011 and Dr. Hertle told us that there was a corrective surgery for the Nystagmus and the right head tilt it was giving him. He told us there would be more risk and damage if he did not get the surgery since it would give him severe arthritis in his neck and back because Hunter was choosing his vision over his neck. We were told that we would get a call and from there we would be able to set up an appointment for the surgery.
November 18th, 2011 we went from Nashville TN back to Akron Ohio to have the surgery on both of Hunters eyes. Since then Hunter has been in recovery and not in glasses until we see Dr. Hertle again June 20th 2012. Hunter seems like he can see better even though he does not have glasses on, he's not running into everything like he used to. He no longer had the head tilt that he used to have, even though now he does slightly have a 5 degree head tilt to the right again. Which may need to be corrected further down the road with surgery again. On the appointment with Dr. Merrello Hunters vision had improved, his left eye that used to be +3 is now a +1.75. I do believe the surgery was a success. The jitter of his eyes has slowed down quite a bit as well. Dr. Merrello did not see any Nystagmus at his visit. I do see it when he is in deep thought, it is not completely gone. Hunter had developed an astigmatism in both eyes since the surgery as well. Glasses should correct the astigmatism, but will not be putting him in then till June.
This was Kingston's first time seeing an opthamologist. There has never been any signs of the nystagmus or that he may have vision problems. He did find that Kingston is developing a slight astigmatism in both eyes at this time, and he fears that he may be near sided. He said that he wasn't going to put him in glasses at this time, and that he would see him back in a year.
I set up the appointment on June 20th for Hunter and Kingston, I want a second opinion on Kingston's eyes and want to know that waiting for glasses for him is the right decision. I also feel that Dr. Hertle is a great doctor and trust very much in his opinion.
So now we are just waiting for that June appointment and we will know from there what our next step will be for their eyes.

MRI & Ultrasound Results

 

 

 

Since our last appointment with the genetics doctor in Syracuse Dr. Pellegrino, we have had 3 of the 9 needed testing done. On February 23rd, Hunter and Kingston both had MRI's with general anesthesia and Kingston had an ultrasound.
The MRI's evaluated for hydrocephalus and other brain abnormalities that are associated with the disease. They both showed no signs of fluid sitting on the brain, whic...h we are very relieved since they have both always had big heads. They both have numerous dilated perivascular spaces due to Hunters Syndrome. 

 They both have a buildup of white matter on their frontal lobe and on the left and right sides behind their ears. Our doctor described this as cement build up. Once it is there, there is no way to get rid of it.

 

It showed that they have severe bilateral maxillary sinusitis, severe left otomastoiditis and moderately severe right otomastoiditis. Dr. Pellegrino wanted them on an anti-biotic right away. Their pediatrician believes that it is just a build up from this disease and that an antibiotic would not help and that the test results would be the same if they had another MRI a month from now. He prescribed us the anti-biotic any ways. Better safe than sorry. He said if they had such a severe infection that they would have fevers and it would be tender behind their ears and a deformity of the ear would be noticeable. He believes it’s the “cement” buildup from the mucopolysaccharides.
There also are signs of thickening in the blood vessels and other parts of the brain due to the disease.
Kingston has white matter myelination that is mildly and subjectively delayed in bilateral temporal, subinsular and peritrigonal regions. White matter volume is normal with normal myelination elsewhere.

 Hunter has subjective mild delay of white matter myelination in bilateral parieto-occipital, subinsular and possibly in juxtacortical regions.
On a GOOD note, the doctor said that their development from MPS 2 is not harming their brain development at this point in time. :-)

Kingston’s Ultrasound results came back that his left liver is enlarged, but no signs of hepatosplenomegaly, which is the simultaneous enlargement of both the liver (hepatomegaly) and the spleen (splenomegaly).

 Hunter had an ultrasound back in November and that showed that he did have hepatosplenomegaly. He has a mildly enlarged liver and spleen.

Now it seems real.

The minute we received the news we could not believe that it was true. We were hoping that they messed up somewheres and had it wrong. Especially since their were no genetic diseases running through our families. We were hoping and praying for the best. And then their test results came in from the University of Alabama... They had tested for two different types of MPS, Hunters and Hurlers syndrome. They came back negative for Hurlers but positive for Hunters. A person with out Hunters Syndrome has 35,790 of these specific enzymes in their body that helps their bodies to function and break down things! Hunters results showed that he only had 36 of the 35,790 enzymes his body needs. Kingston's body is producing 0 of those enzymes. Those results really hit me hard, I had proof in my hands that my babies were sick. I know they are in Gods hands right now and am just enjoying the time that he gives me with them.