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.