Jesse Taormino

Jesse was diagnosed at 6 years old, in September of 2001 with MPSIII A, (Sanfilippo Syndrome Type A.)
Jesse is now offically a teenager at 13 years old as of May 2nd 2008. We were told at his time of diagnosis that there is no cure. So after much study of the disease and what it does to our children, I have decided to work on diet and supplements to try and make Jesse as strong as possible with whatever time God blesses us with him. So far it seems to be working. We were told diet has no impact, but I really feel they are wrong. I Know it will not cure him, but it sure has given him a better quality and a happier life so far! In 2005 a professor in Poland ran across a soy isoflavone called genistein which could help in reducing the storage material in our children with MPS III. It was not proven in humans at that time, but I quickly contacted him, did as mcuh research on genistein as I could find and decided to try this with Jesse. I can honestly say that we have not seen any regression since June 2005. We actually are seeing improved cognitive awareness that had left him between 8 and 10 years old. Here is a poster article on studies that have been done since this time. Genistein -Subtrate Reduction Therapy It is a pdf file, so give it a few minutes to load. We never give up hope. God always provides us new opportunities and continued joy in spite of MPS.
Children with this Genetic disease have a life expectancy of 12 - 15 years on average. Jesse we hope, will go on to the maximum or longer!

Journal

Sunday, August 17, 2008 8:40 AM CDT

Hello to all of our friends and visitors,
There’s been a lot going on these past 10 days. I guess first is to report that we got all of Jesse’s blood work ups back. This is the first year since on genistein we have not needed to increase the Zinc level. Last year his K level was low so we supplemented a very small amount daily. This year, it is just over the top of the high end, so we will discontinue it and then reduce his Vitamin E to 3 x a week instead of daily. (E helps to thin the blood, the K regulates clotting factors, we don’t want his blood too thick with him having the aortic insufficiency. Yet we didn’t want it to thin either) Everything else including thyroid, all mineral levels, glucose, liver tests, PT/INR and PTT, all the amino acids, vitamins, A, D and E also, all his CBC and Diff, O2 levels are all in good ranges. Praise God for wonderful results!

We also had a nice trip to New Jersey on August 9th, to gather with a few other MPS families at Sheryl’s home for swimming, and causual fun eating and just relaxing with like families. Bad news is that I forgot my camera and Jesse’s evening vitamins. Fortunately Sheryl had the major vitamins I use with Jesse, so he did get his evening vitamins for the most part. Tayabba took a few pictures, so with the courtesy of her, I have a few pics I can share, but not many. My mind has really been on overdrive lately, I have to check and double check everything I do right now. Here are the few pictures along with two from yesterday (saturday. Read the next paragraph about a week of real concern for Jesse.

*The pics of Jesse in his sunglasses and visor above are from Saturday while he was very light sensitive. This allowed him to go outside without being extremely agitated and in pain. Read below to hear about the whole situation.

These past two weeks and this week too, Jesse has been out of school, so I have been relying on caregivers to come into the home to care him. He loves having one to one attention all day and going for walks and playing ball with his caregivers. Well the first week went well, but the last week something happened with Jesse. We are still not 100 percent sure what triggered this, but we have a few ideas. Long story short.. if there is such a thing? On Monday night Jesse had mild trouble sleeping. No red flag at this point as the moons were changing, weather was changing rapidly and sometimes these changes can cause a restless night. Basically he slept pretty well, just not as well as usual. Tuesday he woke up happy and smiling as usual, by late morning behavior and agitation started to escalate. Tuesday evening, he was horribly out of control. Crying off and on, hitting, not being able to sit still. I gave him Motrin, but it didn’t help much, only about 30 –50 percent. Tuesday night he could not sleep. He tried to lay down, but every 20 – 30 minutes he’d pop back up clenching his fist and banging against the padded sideboard of his bed and moaning. He was in such pain. The pain appeared to be in his head by his actions when I checked him over. He wanted no part of you touching his head, eyes or ears. He still tolerated brushing his teeth though. Wednesday started out okay, but by afternoon the same agitation. My husband has care for him from about 1:30 onward each day, as he doesn’t have much work lately. So we let the caregivers go at 1:30. He noticed that during one of his episodes that Jesse crawled into the bathroom where it is dark and he sat quietly for quite a while. When he came out later into the more lighted rooms, he escalated again. I did Motrin again on weds. night, and he slept a little better, but nowhere near good. Thursday was a total repeat of the past two days. Jesse was trying to be happy but he just couldn’t be. So I called the geneticist, (she is my favorite of the docs, she will help coordinate anything we need when Jesse has an issue) I discussed with her what was happening and my concerns. One thing in the back of my head was hydrocephalus. Hydrocephalus This is not something we want if at all possible. I was praying that this was not the issue. Another thing was when he had his last seizure a while back, his eyes were not properly dilating for 3 –4 days. This was new, even though the seizure was quite mild to others in the past. So we also were wondering about a bleed from the eye or blood clot somewhere. This did not seem to be the top choice, as he had a great week between the seizure and the issue starting. By the way it is very common for the eyes to have dilaiton issues after a seizure. It usually will take anywhere from a couple days up to three weeks for them to readjust and fix themselves. So Friday morning we headed down to JHU for the entire day as it turned out. We started with a CT scan since we had one on file from a year ago when Jesse was also doing wonderfully but just starting seizures. (we wanted to start with the least invasive things first) I was able to keep Jesse still enough to do this without sedation. We got great news on the CT. NO CHANGES AT ALL FROM LAST YEAR! So with that information we chose not to do an MRI or LP as that would require sedation. So next was to check ears, and sinus, they too were good as I suspected. From there we saw opthamology. (by the way we were able to get a semi dark room to sit in and watch TV each time while waiting, so we were able to keep Jesse from escalating too badly between docs and tests.) By the time we did opthamology though, Jesse had escalated pretty badly. The doc had a very hard time with him and so did I. We got a basic exam done, and had some conversation about the whole past two weeks. We came to a conclusion that Jesse might be suffering a migraine headache that is light sensitive. If so what was the trigger? So with our geneticist we developed a plan. I would go home and start him a 24 hour high dose of Ibuprofren and also add Miralax to prevent constipation from the Ibuprofren. Then after 24 hours reduce him to a 400 mg dose, and gradually decrease as we see the pain subside if it does. Our plan was to try and break the pain cycle. Well, Friday night I started the high dose, then Saturday continued. Saturday afternoon was 70 -80 percent better than the past days, and by Saturday night he was about 90 percent better. So I do think that a migraine that is light sensitve may be the issue. Now the key is to find the trigger that started it. My first guess after much thought and reliving each day this past week, would be would cologne/ perfume from his caregivers, that is something he is not used to here. Two days I noticed it quite strong when she came to the house. Second consideration would be an extreme hormone change? Other than that we do not know of anything else that may have set this off. His diet has remained unchanged and so has everything else here.
I am happy to see him returning back to his happy content self again. Hopefully this remains today.



Today Sunday, we have Jack’s moms visitations at the funeral home and tomorrow (Monday) the mass and funeral services. So please keep the family in prayer if you will.


Jack’s back is still unchaged, it has been worse than it has been in years. He is back to wearing his brace 16-20 hours a day. Sleeping at night is nearly impossible for him lately.

There are many slide shows and pictures in our journal history. Just click there from the top of this page if you want to go back and see what we have been doing for the past couple of years!

That’s about for it now!



Many photo albums are in the Taormino Family photos section, stop in and check them out when you have time*** PICTURES From many Taormino and MPS gatherings and events can be seen in the Taormino Photo album at this link or the link at the bottom of the page!. Photos


(John 3:16,17,18)
”For God so loved the world that he gave his one and only Son, that whosoever believes in him shall not perish but have eternal life. For God did not send his Son into the world to condemn the world; but to save the world through him. Whoever believes in him is not condemned; but whoever does not believe stands condemned already, because he has not believed in the name of God’s one and only Son."

May God Bless You and Keep you in his Wonderful Care!! Thanks for stopping by and checking on Jesse! Stop in and sign our guest book and let us know you were here!

Hugs and many blessings to you and your family!
Patty and Jesse

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Links:

http://www.lsdsonline.com   Support Forum for Lysosomal Storage diseases including MPS and ML!
http://www.mpssociety.org   The National MPS Society
http://community.webshots.com/user/ptaormino   Taormino Family Photos!

E-mail Author: wordinedge@aol.com

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