View Full Version : This Forum Needs a Boost

March 5th, 2004, 05:49 PM
I'll be the first to say I'm clueless about ERT. Replacement therapy wasn't around when Kaity was diagnosed and that was only 11 years ago!

Can someone fill me in? :? What is the procedure exactly? How often do you take your child in for injections?

Tami you would be a good one to help me! I truly am clueless. :frown: How are your children doing now and how long have they been on treatment?

March 5th, 2004, 07:33 PM
Jessica, At Your Service My Dear!!!!!!!! :kiss:

I'm sorry I have not started ERT info earlier.. Bad Tami... Bad Tami.. :lol:

For MPS1 children (I will leave the MPS2 and MPS6 families to fill in the treatment protocol for their ERT's), treatment is weekly. The infusion takes 4-5 hours plus premeds. So it's 6 hours once a week for us.

It sounds like alot but it's really not bad!!!! Trust ME!

We start with pre-meds to avoid reactions (Benadryl and Tylenol) and it has to be in the kids system for an hour before starting treatment. By the time treatments starts the kids are asleep ( well for me, Jacob is asleep for the rest of the day and Sami only sleeps for about 15 minutes :lol: ) Afterwards the kids are tired, not from the treatment but from the benadryl. The next day they are feeling great and ready to party!!!!

I'm still amazed at how well the kids have improved since starting ERT in June 2003. They breath better! Their liver size is almost normal. Sami's is almost normal but Jacob's is still enlarged alittle. I always tell him that it took 15 years to build up the MPS's in his body, it will take a while to get rid of them. They both have improved range of motion and Jacob is now walking 40 minutes, 4 days a week!!!!!! YEAH!!!!!! (before ERT he couldn't even walk 3 houses with out needing to take a break) Also Jacob had very bad headaches all day every day. Within 6 weeks of starting treatment, headaches were down to once a week and now today he only has one once a month, If that!!!!!!!

We are also very blessed to have started Home HealthCare for ERT in January 2004 and the kids are doing great with treatment at home (who wouldn't??). Soon I hope all children who are not in trial will be able to get treatment at home too!!!

Well if I ramble on anymore Jess will kick me off the forum. :lol:


March 5th, 2004, 07:53 PM
Hi Colin started the trial for hunters 8 weeks ago so we do not know if he is on drug or placebo. The trial for hunters is 1 year so that is 52 infusions before we know he is on the drug or not. His hair and skin do seem softer but i keep thinking that i am just imagiing these changes Colin is 24 so things will take along time to improve as you say tami that is a long time he has been storing MPS. We travel to Manchester England on a Tuesday night and stay in a hotel ready for infusion on a wednesday morning the infusion takes 3 hours with a one hour wait after to make sure everything is fine. I will keep you updated of Colins progress.
Barbara Arrowsmith

March 5th, 2004, 08:03 PM
I was just about to ask what kind of pre-meds then I kept on reading. Doh!

Thanks for the wonderful answer Tami. I think it is incredible how the enzyme seems to be helping fix so many things that were damaged. It truly is a miracle! :angel:

You told me Sami has tumors, that are obviously not related to MPS. Are they cancerous? The ERT had nothing to do with them...right? It's bad enough she has MPS to contend with. :(

Do the doctors think Sami & Jacob will continue to improve or will there be a tapering off level? Stupid question I guess because they probably don't know yet.

Tell Jacob and Sami I'm proud of what they are doing. Because of them (and many other kids) so many children will be saved in the future.

Thanks for explaining. I felt kind of silly asking--"What is ERT anyway?" and then decided what the heck. :D

March 5th, 2004, 08:07 PM
Thanks Barbara! I guess we were posting at the exact same time. Yes, please keep us posted on Colin's progress!

March 5th, 2004, 08:38 PM
Great Point Jess!!!

Samantha's tumors have nothing to do with MPS or ERT!!!!!!! She has to be special :lol: and beat her brother at everything! :lol:

Sami has a very rare type of childhood "cancer". She has desmoids tumors, which is a type of soft tissue carcinoma. Although desmoids tumors do not spread like normal cancers, they are very evil and like to "jump" up the body. If left alone she would have to have her feet and maybe her legs amputated. I like her legs and feet!!! They are very cute!! So after the first surgery didn't work, the second would mutilate her (you don't want to know how bad the second surgery would have been), and she might still lose her feet! We started chemo..... YUCK...

But please EVERYONE KNOW THIS!!!!! This has NOTHING to do with MPS or ERT. Sami's tumors started in 2002, had surgery in 2002, and she had the recurrence in March 2003. Way before ERT and we know of no other children with desmoid tumors and any type of MPS!!!!!!!!!!!!!!!!!!!!!!!

Sami has always been special. She is the only child I know of, that has MPS and a Cleft Palate. See she always has to beat her brother :lol:

On improvement !!! ERT will not fix everything that MPS has Messed up! The earlier the babies can get ERT the better!!!! The new babies that can start ERT at a young age, have the great chance to have a normal life!!! With education for the doctors on MPS and ERT, my hope is that more children will be diagnosed earlier and will start ERT, ASAP! Soon (I Pray!!!) we will have no need for Transplant and we will have newborn screening for MPS and soon we will have Brain Barrier Treatment for all our MPS babies. Look how much has changed in just the last 6 years.......

Ok Now Jessica is really going to kick me off the forum!!!!! :cry:


March 5th, 2004, 08:54 PM
Talk about a FULL plate. It seems cruel enough to have MPS then add tumors on top of that. :cry:

I'm sorry Tami. I hope the chemo helps kick the tumors in the butt.

You are in my thoughts and prayers! You know...I always say that to people, "you are in my thoughts and prayers." But it is true. Every night I pray for every angel on this forum and all the sick children in the world. I just hope the big guy is listening to me. :P

March 6th, 2004, 01:20 AM
Barbara: I don't think you are imagining Colin's skin and hair being softer! I KNOW Allison's skin is softer and you would not believe the difference in her hair! Her hair has really gotten soft! It used to be very course.

Allison (MPS 1) turned three on Feb 5th! She has had 41 infusions so far. She has been very lucky and has not had any adverse reactions (knock on wood!) :) We have seen improvements in many areas! Allison has SO much more energy now! Her Liver and Spleen went down in size within 5 weeks! It was amazing! Her skin is softer, especially on her legs. Her hair is softer and smoother, she has had an increase in the range of motion in her shoulders. AND most recently, there has been an increase in the range of motion in her hands! Her middle knuckles to be exact!

Dr. Whitley thinks that we will continue to see small improvements as she grows and gets older. He thinks that the build up that is already there will slowly get cleared out and because of ERT she will not continue to accumulate more! We are hoping that because she was so young when she started, that she will not have some of the issues that she would have had without ERT.

Winters in North Dakota have been very hard on Alli. Her first winter, she had MANY ear and sinus infections, then developed RSV. We went through three months on the nebulizer. The next winter it was more of the same except the RSV turned into pnuemonia. This winter...we have been very lucky! Her sinus' seem to be giving her the most trouble, but no MAJOR illness! I think that her respitory system is able to recover from the colds better before they turn into something worse.
I guess I should sign off! This has gotten longer than I planned :lol:

Laura Brodie
March 6th, 2004, 04:54 AM
Please don't apologise for long posts -I for one really want to know all these details as we may have to make decisions about whether or not to go ahead with these treatments in the future maybe in a year and a half!!
The worry for me would be that Will could not cope with the infusion ? Do they have to be fairly quiet /still /relaxed-None of these apply to my Son :lol:

Tami- I do know of a boy with Hunters with a celft palate!! They did a comparison reseach study of Will and him as they both had midline abnormalities and the same chromozome abnormality for Hunters! I hope Sami's chemo is helping -hugs to you all Love Laura

March 6th, 2004, 09:36 AM
Like Laura said, don't apologize! Besides that, whenever you post it gives me a chance to see that 'smiley' picture of Ali again. :D She reminds me so much of Kaity that it's not even funny!

Thank you for the informative post. I can't wait to hear what a year or more will bring for your children.

March 6th, 2004, 11:44 AM
Laura~ The IV Benedryl helps a little because it makes them tired! Allison watches videos and we do puzzles and color. She really loves to go in the playroom. We just have to be careful that she does not pull her IV out! :lol: She moves around a lot! As long as we watch carefully and follow her with the IV pole...She is fine. She adjusted to the infusions fairly quickly and now they are just part of her routine!

Laura Brodie
March 6th, 2004, 03:20 PM
Thanks Jennifer, thats reassuring! I must also say what a lovely little sweetheart of a girl you have :) but she looks like she would be 'busy' from her photo!Love Laura

March 6th, 2004, 04:11 PM
I havent read much about ERT for Hunters. All I haave heard is that they have to be 5yrs old, be able to walk for 6 min and breathe a certin amount of pressure into a tube....right????????? Seth will be 5 in April, I wonder if we will be contacted at age 5 or do we have to wait till they start a whole different "trial" and start at phase 1"? I am completely iggnorant when it comes to ERT I have only heard bits and pieces about it and I am probably not even understanding how it all even works. Can anyone help educate me? What have been the pros and cons of the ERT for the Hunters kids?
Misty :?

March 6th, 2004, 05:10 PM
Yes! And on top of what Misty said, how long are the trials lasting? Once this trial is over will your child remain on treatments? (Praying that is so!)

And how long will they keep "testing" before they offer treatments to the general public?

March 6th, 2004, 10:00 PM
Clinical trials can be different for every drug. How long the trial last depends on the FDA (in the US).

See the MPS Society's page on clinical trials for more information : http://www.mpssociety.org/news-drugapp.html

For Aldurazyme, which is all I know, Phase one is on animals only... And the FDA has to approve the information for phase 2 (approve that it is safe for Humans)!

The phase 2 (the first human trial) has all patients on the drug. If I remember right, (I wish one of our first 10 families were here to explain it better;) it lasted 2 years? Then the FDA had to review the information on improvement that the children showed and then approved the phase 3 trial.

Phase 3 is both placebo and drug, call a double blind study. What that means is that the doctors and the patients do not know if they are getting the real drug or just play stuff.... In the Aldurazyme study I think it lasted 6 months and after that they (the patients or parents) had to choice to stay in the trial and receive the drug (even if they didn't know if they were getting it or not).

All MPS patients stay on the drug (If they want) until the drug is approved! After approval then some may still be cover by the trial if requested by the FDA, as is the case in the phase 3 for Aldurazyme children. I think the study is not over until feb. 2005.

The limit on who is accepted into a trial is hard!!!! Not because the companies don't want to accept the younger children or the more affected babies but because they want the best results for the FDA so they can get the drug quickly approved for all the children.

I know how hard the wait is.... I spent years waiting for the FDA to approve Aldurazyme and sat and watched my kids struggle to survive. There were times we didn't think Jacob would live to see approval, and thank God he did.. But I personally know of several children who couldn't wait. I still cry for each of them and their families...................... This disease is not fun And Not Fair!!!!!

OK, Jess is going to kick me off.... :lol:


March 6th, 2004, 10:03 PM
Laura???? What type of cleft palete? Sami has a special type called Perrie Robin syndrome.... I have found some info on PRS and MSP but its very rare. I would love to know if your friend has the same type?????


Steve Holland
March 7th, 2004, 01:10 AM
My way of background, my son has been on ERT since 3/98 and my girls have been on ERT since 1/01.

The way I like to describe ERT is that is has stopped the physical effects of MPS on our kids. They now seem like regular kids.

While the above statement may not be literally 100 percent accurate, it is close enough compared to the way things used to be. Yes, there are still health issues that have to be dealt with, but we don't see the daily decline that we use to see. The kids now have normal energy levels and can now walk normal distances. The double jogging stroller we use to use for our girls was parked in 2001 and has not been used since. The kids go to sleep overs, overnight field trips with school, and participate in extracurricular activities at school, such as choir, band, and student council. Though we don't let Spencer play competetive sports anymore because of concerns over injuring his shunt or port, he serves as manager of the school football and track teams.

The main limitation of ERT at this point is that it does not cross the blood/brain barrier. (This is why many Hurler families still get stem cell transplants.) Therefore, any cognitive decline that is going to occur will most likely continue to occur. Having said that, there is a tremendous amount of research going on right now to address this, both in a biological (eloquent) manner and in a direct infusion manner. It is possible that human trials on providing enzyme directly to the brain could start 12 to 18 months from now. Treating the brain will be the breakthrough that will allow treatment of the other MPSs.

The researchers knew that ERT would not help the brain disease, but they wanted to get a treatment out that would help the rest of the body while they figured out the brain aspect. So while it may not appear that way to us parents, the overall plan really is working out - though taking longer than anyone wants.

The FDA uses Phase I/II trials to make sure the treatment does not hurt the patients. Phase III trials are used to make sure the treatment is effective. The length of trial, number of patients, and use of placebo varies by trial. The current MPS II trial is a phase III trial that will last for one year using placebos with a staggered start date.

Now back to our kids, they go to a hematology/oncology clinic one day a week for an approx 6 hour infusion. We do not have home therapy due to allergic reactions that my son experiences. Interestingly enough, they started some four years after he started therapy. They are not bad and do not prevent him from receiving treatment, but they do concern us enough that we don't want to have to deal with them at home.

While I could go on forever I will stop here. My family truly feels blessed to have been able to be a part of the ERT trials and to have helped obtain FDA approval for Aldurazyme. There is still a long way to go, but at least things are moving in the right direction.


March 7th, 2004, 01:23 AM
Steve~ I am happy to hear that your kids are doing well! I have thought of them often.. The results of the Clinical Trials for Aldurazyme give me hope. Thanks for sharing!
Jennifer Restemayer

March 7th, 2004, 09:53 AM
Thank you for the update. I'm so happy your children are doing better. There's only one person to thank! :angel:

Please keep us posted. We want to hear how ALL the children are doing. It is very important to us!


Laura Brodie
March 7th, 2004, 10:23 AM
Steve& everyone,
Ed Wraith told me at our last appt. that the trial getting the enzyme directly to the brain was currently starting on the'dog' model which has to happen before they can try it on humans. I felt this was a big step forward for those of us with neurologically affected children.In the meantime I'm praying hard that the ERT TRial for Hunters is successful and gets approval quickly which will help keep the more severe kids going until the Brain/blood barrier is successfully crossed!

Tami -There is a write up on The study of our two boys with 'midline abnormalities' which I could send you if you would like-Do Email me and I'll scan it at work and send it to you-The other boy did match the P-R syndrome diagnosis but the research done on the mutations he and my son have showed That the midline craniofacial defects were due to Hunters Syndrome! After joining this forum and seeing how many children have the same facial features,bone probs along the spine ,umbilical hernias and probs with teeth /Testes I think it is the MPS and not another syndrome -well with HUnters anyway! I think possibly the different mutations cause different clinical symptoms depending on the levels of enzyme -our 2 boys have the same minute level and the mutation is at the same point -so it is possible to summise that is why they both had midline problems. Will also has another condition called Hereditory Angioendema which is definately not to do with Hunters :roll: So I sort of know how you feel! I'm glad your kids are on ERT and improving! Love Laura

Sharon Cochenour
March 7th, 2004, 11:43 PM
I applied for the recent clinical trial for MPS II. My son Andrew was 5 yrs.old and we were going to Chapel Hill for the Natural History study. We practiced and practiced walking, and blowing for the pulmonary function tests. When we got there he was tired and cranky and did not cooperate. Needless to say he did not get in the trial. :cry: I do understand that the researchers need the best results for the FDA approval, and this will help to get the drug approved faster.
Dr Munzer did tell me that a treatment is so close, and perhaps Andrew will qualify for the phase for more severely involved children. Untill that time we will sit and pray and hope that a treatment will be approved soon.


March 9th, 2004, 04:40 PM
Hey Laura,

I would love the info on PRS and MPS. I would love my doctor to see it. I have been screaming that they need to look more closely at PRS children for MPS. So many children with PRS have symptoms of MPS but are diagnosed with unknown disorders or just told the problems are related to PRS and there is nothing that can be done. Nobody ever checks for MPS!

Thanks for the help and I will email you!!


March 9th, 2004, 07:59 PM
Steve, Jennifer, and Tami,
It is so awesome to hear that your children are doing so well with ERT, what a blessing! :angel:
Thanks for all the info Tami and Steve, it is very interesting, and makes me even more upset with Ty's geneticist for putting off the skin biopsy. I really can't understand it :?
Laura, I think we may have already talked about this but Ty saw a geneticist in Dec. who said that Ty has a defect of the midline, and it may take sometime to diagnose just which syndrome it is. I wonder if all his "midline" anomallies are not just due to MPS? He did not have a cleft palalte, however he does have a high arched palate. Who knows? hopefully I will be able to schedule the visit with Duke and Dr Kurtzberg very soon. She said we need to stay for a week, so I am trying to work out care for our three other children. Until then, we wait. :roll:

Laura Brodie
March 10th, 2004, 03:48 AM
Kim, Will has a high arched palate too! Hope you get your appt.soon! :)
Tami-I'm going to show yours and Kim's post to the Docs who did the research if you don't mind! Love Laura

April 20th, 2004, 02:57 PM
Hi Tami,

It was useful to read your experiences on ERT. As you know from when i joined the forum last week, Benjamin startet with ERT last Friday and will continue on Thursdays. We have discussed how long time it will take until we can expect to do treatment at home.

How long did it take before you started at home?
Do you have a nurse with you?

Also concerning actually notice improvement- when did you notice? I am reluctant to ask- and have told my self that I should not expect anything before 8-12 weeks.

I know it does not improve on the mental health condition, but have you noticed anything? Benjamin is 9,5 years but mentally he is about 3.

I am exitied to have the second treatment. Benjamin did very well and had no reactions as I thought he would.

Looking forward to hearing from you.


April 20th, 2004, 06:35 PM
Hey Rita,

I'm glad everything went great! I have been thinking about you :kiss:

I would keep in your head 12 weeks for signs of improvement. That way you don't drive Benjamin crazy :angel: For me, Jacob had very bad headaches everyday before starting ERT. They would start by 10am and last until he went to bed. 6 weeks after starting treatment his headaches were down to once a week/10 days. Now he just has normal headaches like the rest of us. Both kids showed improved range of motion by 3 months and liver size started going down by 6 weeks (although Jacob's is still enlarged slightly, Sami's is normal at month 6!) Sami just did a back flip in the pool for the first time every! I almost cried :cry: Also both of their skin and hair were softer by week 6.

We just had Jacob's IQ retested and he Went UP since his testing before ERT!!!!(Sami has never been tested) I don't know why but it did (he still sucks at math and scored 79 but hey who cares :angel: )

About home health care...... We started at month 7!! :bounce: Benjamin can not have any reactions to ERT and if your insurance permits (gota love insurance companies :8): you can do home health. It's easy (and yes I will have to hire bodyguard for the next conference because everyone hate me :wink:)

I do have a nurse come in ( I talked to a very nice Mom who is a nurse too and she does ERT herself! ) I get a two week supply and have a medical cart set up that holds all the supplies. The Aldurazyme is kept in the frige next to the eggs. :lol: I mix the meds in the morning before the nurse comes. That way it takes him less time and the kids are done quicker. Jacob takes 13 vials and Sami 11, so I set up the supplies and start mixing. I always do Jacob first and on the same side of the counter, I mix in the Albumin (keeps the Aldurazyme from sticking to the bag and gets the Aldurazyme where it's need ect..) then I withdrawn the needed cc's of saline, Jacob is 65 and Sami is 55. I then infuse the aldurazyme into the bag. It's easy! The nurse arrives and accesses the kids and we start! for the first hour, they have to stay in the living room but after that they can go to their rooms (If they remembered to clean their rooms :lol: ) and we watch movies and get pizza for lunch! We are VERY LUCKY!! Oh did I say we are very berry lucky!!!! :angel:

Tomorrow we have a cardio appt after ERT (I begged the nurse to come in at 7am :D . Wednesday is treatment day for most of our local MPS1 babies at CHLA so I'm hoping we get there in time to visit some of them!

I know I rambling on ...... Sorry! I don't get out much anymore now that Sami is on Chemo :lol: :lol: :lol: :lol: I should put a disclamer on all my posts........ "Mom is posting without sleep"!! :lol:

April 21st, 2004, 04:38 PM
Hi Tami,
Firstly I must say how impressed I am by you! You seem very strong, managing a lot in one go. It must we worrying to also have Tami doing chemo- how is she doing? Also doing the ERT at home- do you have a medical background?

Your feedback is very valuable for me- and the important thing is that benjamin will feel better and have a good quality life. After we brought the case up in the media there have been a few families that had totally given up all hope ( even their children are not severely affected yet)- now in talks with their doctors- asking for ERT. This also makes me very happy- our dreams could come true for other children.- double joy :kiss:

Warm regards