Ear tubes

Today 12/13/12 Hunter & Kingston are getting ear tubes at Upstate Medical. Im very excited for the possibility of better hearing and lesser ear infections.  :) pray for my strong boys, I know they will do great.

Nash Easton Cruze Clubbs

Nash Easton Cruze Clubbs made his appearance on December 11th 2012 at 3:08pm, 37 weeks gestation. He was 7lbs 13ozs & 20 1/2 inches long. 
I got to hold him for the first couple hours after birth. After that he was taken to the special care nursery to be put on oxygen for the night. We were told he had TTN of a newborn. His oxygen levels were up and down throughout the night. By morning he was needing more oxygen than when he came into the nursery. The doctor decided that it would be best to send him to the NICU over at Wilson since he was having a hard time under the hood. So yesterday 12/12 at 1pm he was admitted to the NICU. At 4pm he was down to 32% oxygen and not grunting as much. Praying that when I go and see him this morning that he has been weened off more oxygen and that he will be able to come home soon. 
Doctors are concerned because of the Hunters Syndrome that his body will take a little longer to heal than normal.  Im really hoping this is not the case. But we just have to wait and see.

MPS Conference Boston Plaza Hotel July 2012

The Transfer Process

        We have been in the process of transferring from Upstate Medical in Syracuse for over 4 months. It has been an interesting 4 months say the least. Our geneticists at Syracuse doesn't want us to transfer so she has been putting her foot in the door all along the way and making it as difficult as possible. She has gone as far as calling up the boys' other doctors and lying to them, and telling them that this was to much of a difficult treatment that they(the doctor) would not be able to handle it. We haven't gotten discouraged yet and we've been fighting for those boys. A 20 minute trip to the hospital will be so much nicer than the hour and a half trip we have been taking since April.
       We have had the hospital here at Lourdes trained in every which way possible. Their pediatrician does not seemed worried at all, and he also hasn't let the geneticist discourage him either. The pediatrician is coming out to watch the boys infusion on Thursday in Syracuse, hopefully our last infusion there. And we will know more after Thursday when we will be infusing at Lourdes Hospital. Hoping the next Thursday Nov 1st we will have everything set up. We then plan to do 2 or 3 infusions at Lourdes and then get everything set up for home infusions, so we will no longer have to travel for the two boys.
       Once the baby is here I will be taking him to Albany Medical which is 2 hours away for treatments. Which won't be as bad with only one child. That is where we have now found our new geneticist who seems to want the best for the boys and has already done more for this baby then Dr.Pellegrino ever did for Hunter and Kingston. So I am excited for this new step. Hopefully next year won't be as stressful for us since we will actually have a doctor on our side. :)
        We will be meeting with him November 2nd, after that we will have more answers about the baby and when infusions will be able to take place. So please keep us in thought for the next couple weeks we have A LOT of big decisions coming up!

We Will Fight Till The End... for all our boys!

I know there has been many questions regarding Clubbs Baby Boy # 3, so I'm hoping this post will inform everyone that has been wondering. We found out in May that we were expecting again, of course we had the scare that this baby would have the disease. So we did the early CVS testing at 10 weeks. It came back that he was a boy. A boy has a 50% chance that he would have the disease. A girl would n...

ot of had the disease, but a 50% chance of being a carrier of it. From there they sent out his DNA to California to a genetics lab where they tested for the X Linked mutation in his chromosomes.
At 14 weeks of pregnancy we got the phone call that this baby also had MPS 2. From there we had to decide what we were going to do. It broke my heart knowing that I was AGAIN going to have another boy with this life threatening disease but with all the fear and sadness I could never abort my unborn baby.
I would not trade my two boys for anything... YES I would ask for this disease to be gone but other than that I would not change anything about them. They are such a joy in all our lives. I could not imagine taking a life so pure that is going to be just like them.
Atleast now we know ahead of time and are prepared. And this baby will be able to get treatment much sooner, so the affects of the disease won't be as harsh on his body. So that is a big plus!

Ports aren't as easy as they seem!!

This past week has been a LONG LONG WEEK! Thursday July 19 was like any other Thursday. It was the 2nd week that my boys had their ports placed & 2nd infusion. They were still pretty pink because their bodies were not used to them yet and were not fully healed.
We started the morning by putting Emla cream on them and putting their bandages over them and heading to the hospital for their infusions. When we got their they took of their bandages to access their ports and by that time Kingston's port area was very bright red and tender to touch. The port was still accessed and his vitals were good for the next 4 hours.
After the infusion his port was still a bright red color. We left the hospital and about 45 minutes down the road Kingston woke up pulling at his ears, acting uncomfortable. By the time we got home and I got him out of his carseat and realized he was burning up. I got him in the house and took his temperature, it was reading 103.3 under the arm. I got my mom on the phone calling the doctors office as I headed out the door. By the time I got to the pediatricians I had got a text telling me they would see us right away.
We went right in and they took his temperature rectally and it was reading 105.3!! Wowza poor boy just wanted to be held by mamma and didn't want anyone else touching him. I had gave him Tylenol before we left the house and it was still rising.
The doctors office set us up at Wilson Hospital where we headed over there right away. All the doctors were scared that it was a line infection and would have to come right out...
That was just the start to our week long trip in the hospital(s)!!

FIRST Infusion with Ports!

Today is the first time in 4 weeks that the boys got their medicine. They were sick the first week, then vacation the 2nd, and last week they had their ports placed in.
I am so glad that we went the route we did with the ports! Today was such a breeze compared to the last 3 months.
We got there at 8:30 & they were hooked up to their medicine by 9:20! It was such a painless and more enjoyable process than getting ivs!
Everyone in the room had to put masks on, except the boys since they decided they weren't having anything to do with it. She then had to scrub them down and disinfect the area around their ports(under the left arm). She then put a needle that looked like a push pin into the port, which did not hurt since we put on the numbing cream before we left the house. She made sure it was accessed, which it was. Put tape on it and they were good to go. It maybe took 2-3 minutes to do all of that.
The boys were a little off edge because it was something new to them, but I'm sure next week they will realize it wasn't that bad and settle down some more. The hardest part for them was taking off the tape at the end when they were all done. And if that's the most pain they have to endure through this whole process, I think we can all handle that!! :)
Other than that treatment went very. The one nurse today told me that I have two very strong and healthy looking boys, which I am very proud of under the circumstances.

I still have boys on the bioplasma cell salts, and I see a HUGE difference when they take them. With all the traveling we did in the last month the boys didn't get their bioplasma cell salts & boy do I regret it! I saw a lot of storage in their faces. They got sick, which they haven't been since the winter time. I knew I needed to get them back on them religiously like they previously were. So I set my phone for three times a day to have the medicine and within a week their faced were starting to look better. I had family commenting on how good they were looking. Within two weeks of being on the cell salts they are having solid bowel movements, which I've noted in other posts how they've never had them till this medicine.
And now I know it's the cell salts because they haven't had their ELAPRASE, their therapeutic enzyme replacement since I've started this up again.
I always have the nurses asking about it or what I'm doing because they are looking so great! I'm really just glad that I found something that I KNOW HELPS THEM!! :)

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.

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!!

My two happy boys!!

Just the start to my story...

I am the mommy to two wonderful boys a one and two year old. They are both my pride and joy. They are both fun loving happy boys that love to get into just about everything, they are all boy! My husband travels with the pipeline so we are constantly on the road. My oldest son Hunter who is two and a half has already lived in 6 different states including Tennessee, Minnesota, New York, Florida, West Virginia, and Pennsylvania. Hunter has been traveling since he was 2 weeks old and Kingston my one year old was 2 months old before he started traveling. Believe it or not they love being in the vehicle and are constantly asking to go bye bye. Thank God for Mickey Mouse Clubhouse, they could watch Mickey on repeat all day long, it makes 14 hour car rides much easier. They are just happy little boys that are content with their lives.  The boys have always been big boys. At one year they both were 30 pounds. Their dad Jeremy is a big guy as well as their Poppy(my dad) and my brother Denny who is 6'5". We all thought they were going to be big men because it ran in the family. We also thought it was normal especially since we have always had big babies in our family. They looked like normal healthy babies to us. The doctor always remarked on how big they were getting (they have always been off the charts) and was very cautious about it. I was always just one happy mamma about it, figured I had to be doing something right.  The boys pediatrician decided to send us to genetics's and have them tested. After months of going back and forth for blood work and urine samples and boy was that not fun getting it from a one year old! We then found out Hunter had an abnormality in his blood and urine that had to do with an enzyme deficiency. We then had to go back to Vanderbilt Children's Hospital in Nashville from Binghamton, NY to get Kingston and Hunter tested one more time. We also then spent Christmas at our house near Nashville, TN and spent some quality time with my husbands family. After that we were headed back to NY to go stay with my parents since Jeremy would be working in PA, which is only an hour away from my parents house. It works out good for us since we get to spend time with my family and the boys have their cousins and 6 year old Uncle Cooper to play with. Thankfully my parents have a big house or we would all end up killing each other, with now 5 kids under the same roof ages ranging from newborn to 6 years old. :) Hunter and Kingston love playing with their cousins and Uncle Coop. I think they are very lucky to have this opportunity to have a play date every day and to get Nana and Poppy's lovings every morning.