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.

How can I help?

After that phone call, I looked up every possible thing that was associated with Hunters Syndrome and wanted to know what I could do to to help my babies. I had gone to the health food store and went to the homeopathic(all natural medicine) section and was looking for the closest thing to enzymes to put in their diets. The closest thing I could find was Bioplasma Cell Salts, the guy at the counter kind of told me about them but he wasn't really sure of all the benefits himself. The bottle cost 20.99 for 1,000 tablets. At that point I decided I didn't care, I would try anything to make sure my boys were healthy. And about a month earlier before the boys were diagnosed I was looking up healthy foods and trying to get them on a healthy tract I had discovered Organic Wheat Grass from a site where I buy my essential oils from, so I thought I would order some and give it a try. I had gave it to the boys a couple of times but they never really liked the taste to much so didn't keep giving it to them. When we came to NY I had decided that I was going to bring it with us for some reason. After we got that phone call I decided that I was going to find a way for them to drink this everyday just because I thought that it may help. Well that next morning I started giving them two bioplasma tablets three times a day and a little bit of the organic wheat grass in a little bit of juice and water twice a day, they seemed to like it that way! Didn't know if it would help them in any way, was just hoping and wanted to say I was doing the best that I can for my boys. I have also pretty much cut out most processed foods from their diet as well since their bodies have a hard time breaking down harsh carbohydrates and sugars.
















5 days later we had notices a great change in Hunters face. I asked my mom doesn't his face look longer? Sure enough she thought so too. So I decided to take a picture and we were amazed with the results.  







Here is Hunter after 5 days on the bioplasma cell salts and the organic wheat grass...

 And here is Kingston after 7 days...

The picture's on the left are the boys from the night we found out about Hunters Syndrome. We were amazed in the difference in them in such a little time. They have actually slimmed down since then a little more. We are just amazed at the tools God has given us to help our boys. I can't wait to see a even greater difference in them once they are on their enzyme replacement treatment. I just wanted to share with everyone what has been helping our little ones. I believe that the bioplasma cell salts and organic wheat grass would be beneficial to everyone!!!

Here is a link to vitacost where I buy the bioplasma cell salts, if you go through my link and sign up for the website it will give you $10.00 off of your first order. Making the bioplasma cell salts only 6.41 after shipping. :)

http://www.vitacost.com/Referee?wlsrc=rsReferral&ReferralActionId=741000022183

First Appointment

On Friday January 27th 2012 we had our first Doctors appointment at Upstate Medical University Hospital with Dr. Joann Pellegrino. She sat down with us and had a very thorough 3 hour conversation and informed us on just about everything we could take in. We learned that the boys treatments would take place every week and would be at least 4 hour treatments each, but they would be able to walk around and play in a big room with lots of other children and adults that would be receiving the infusions as well. They will not be able to receive the enzyme infusion ELAPRASE until they undergo quite a few testing first including, MRI's, ECHO's of their hearts, ultrasounds, hearing and eye tests. The boys won't start to get better until they start on this treatment so we are anxious to get all of these appointments behind us.
Dr. Pellegrino was very impressed with their soft healthy looking skin, especially since Hunters Syndrome patients usually have dry skin with white patches. She also was impressed with their soft hair and straight teeth. The only concern she had disclosed with us was the limited joint flexibility in their elbows and knees. She said since this is such a rare disease and different with every patient that she can't say how severe it is based on their test results but by the way they are progressing individually. She also told us that the drug ELAPRASE will help with the function of their joints and help to reduce the size of their liver and spleen but may never be normal size. They should grow to a average height with this drug, but is unknown right now since the drug is fairly new with only being on the market for 6 years. The one thing it does not help with is their mental function. Our brains have a barrier to foreign objects and will not allow the drug to enter the brain. There are test studies being done in North Carolina and Europe where they are injecting it right into the spinal cord and they are having good results so far for it helping the brains function. Too bad they have special requirements of the patient being 3 years old and to already have a mental problem, otherwise we would be in one of those places. I'm praying that this method works out or even better a CURE!!!

The Phone Call That Changed ALL of OUR LIVES!!

On Monday January 16th, 2012 we received the news any parent would fear. That their child was sick, but for us it wasn't just one child it was BOTH of our boys. Hunter and Kingston both have a rare life threatening disease called Mucopolysaccharidosis Type 2. Also known as MPS II (or Hunter syndrome), is a serious genetic disorder that primarily affects males (X-linked recessive). It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAG. Hunter syndrome is one of several related lysosomal storage diseases.
In MPS II, GAG builds up in cells throughout the body due to a deficiency or absence... of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of MPS II become more visible. Physical manifestations for some people with MPS II include distinct facial features and large head. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. Not all people with MPS II are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, MPS II is always severe, progressive, and life-limiting. As of yet, there is no cure for this disease.
Of course after I got off the phone, I went and did a lot of research. I wanted to know exactly how this was going to affect my boys and what this disease actually meant. MPS 2 is a very rare disease that it has been estimated that 1 in 100,00 - 170,000 male births are affected by MPS 2.
What are the clinical problems in MPS 2?
Growth in height is usually significantly less than normal, but varies according to the severity of the disease. Babies with severe MPS 2 may be quite large at birth and may grow faster than normal during the first two years of life. Their growth then usually slows down by the end of their second year. Their final height is likely to be between 4 feet and 4 feet 7 inches in individuals with severe MPS 2. Individuals with attenuated MPS 2 usually grow to a relatively normal height. Most individuals with attenuated MPS 2 can live into their teens or early adult hood before they are diagnosed with this disease. Severe and mild conditions are usually diagnosed between the ages of 2 and 4.
Children with severe MPS 2 experience progressive storage of GAG in the brain, which is primarily responsible for the slowing of development by 2 to 4 years of age. Followed then by a progressive regression in skills until death. Children with this disease will continue to understand and find enjoyment in life, even if they lose the ability to speak. Severe MPS 2 individuals commonly have other medical problems that can hamper their learning and performance, including chronic ear infections, poor peripheral vision, poor hearing, joint stiffness, communicating hydrocephalus and sleep apnea. Adequate treatment of these medical problems can improve their function.
Hunter and Kingston have had many ear infections since birth. Hunter has had 10 to 12 ear infections and Kingston has had 6. They constantly have runny noses, which is from a build up of GAG's in their brain and with them being so small they don't have a lot of room in their head's and causes their noses to run. They should out grow this as they get bigger.
Individuals with attenuated MPS 2 have normal or near normal intelligence. They may have the same physical features as those seen in individuals with severe MPS 2.
The Physical Appearance with individuals with MPS 2 tend to look alike. When several of them are together, they can look like carbon copies of each other due to the coarsening of their facial features, short noses, flat faces and large heads. Their faces are chubby with rosy cheeks and their heads are large with prominent foreheads. The neck is short and the nose is broad with a flattened bridge. The tongue is enlarged and the lips may be thickened. The hair tends to be thick; the eyebrows bushy and there may be more hair than usual on the body. They have protruding bellies and stand and walk with bent-over stance due to joint contractures at the hips, shoulders, elbows and knees.
Nose, throat, chest and ear problems usually occur in more severely affected individuals. Individuals with attenuated MPS 2 are likely to have fewer and less severe symptoms, except for airway involvement. Conditions usually consist of a runny nose, enlarged tonsils and adenoids that can partly block the airway. The shape of their chest's are frequently abnormal and the junction between the ribs and the breastbone in not as flexible as it should be. Also the muscle at the base of the chest(diaphragm) is pushed upward by the enlarged liver and spleen,  further reducing the space for the lungs. When the lungs are not fully cleared, there is an increased risk of infection. They also may have frequent coughs, colds and throat infections. Individuals with MPS 2 who have narrowing of the large airways and increased secretions are at risk for asthma like episodes. Many affected individuals breathe very noisily even when there is no infection. At night time they may be restless and snore. Sometimes the individual may stop breathing for short periods while asleep (sleep apnea).
Heart Disease is very common in ALL individuals with MPS 2, severe to attenuated. Heart disease may not develop or cause and real problems until later in the individuals life.
In most individuals with MPS 2, both the liver and spleen become enlarged by storage of the GAG. The enlarged liver does not usually cause liver problems or lead to liver failure, but it can interfere with eating and breathing and the proper fitting of clothes.
The Abdomen bulges out due to posture, weakness of the muscles, and the enlarged liver and spleen. Frequently part of the abdominal contents will push out behind a weak spot in the wall of the abdomen (hernia).
They also tend to have significant problems with bone formation and growth. This leads to bone problems as well as neurological problems if nerves are compressed by the bone.
Joint Stiffness is common in MPS 2 and the maximum range of movement of all joints may become limited and also tend to have thickened and tough skin.
MPS 2 individuals may also have Neurological problems such as brain, senses and nerves. In the more severe cases of hunter's syndrome there is a decline in developmental funtion. They believe that it may be related to storage in the neurons of the brain. Other aspects that can affect brain function include inadequate oxygen levels, sleep deprivation due to sleep apnea, increased fluid pressure in and around the brain, and effects on the eyes and ears that the affect the ability of the individual to see and hear normally.
Occasionally there will be problems with the eyes due to changes to the retina and glaucoma.
Also some degree of deafnes is common in MPS 2. It may be conductive or nerve deafness or both and may be made worse by frequent ear infections.


I hope that summary of all the problems that can affect an individual with MPS 2 has helped. I know its a lot to take in, it sure has been for our family!!