ERT and Transplant

Dear Max Fans,

Well, it looks like things have changed drastically. It seems we were misguided in our hopes for enzyme replacement therapy. ERT is mainly for children with:

less severe forms of Hurlers Syndrome, whose intelligence is not as affected
children who have passed the age for bone marrow/stem cell/cord blood transplant
The problem with ERT is that it does not pass into the brain. If Max were to take the drug it would improve his organs and systems but he would continue to suffer severe neurological deterioration. We have been advised that a stem cell transplant is our only real option for him. The effectiveness of ERT post transplant is currently being studied.

Today we had a long meeting with members of the transplant team at Children's Memorial Hospital and another meeting with the geneticist. http://www.childrensmemorial.org/depts/stemcell/default.asp

While Children's Memorial has not performed as many stem cell transplants on Hurler's kids as Duke University or University of Minnesota hospitals, it is a world leader in stem cell transplants for children and in the last few years has become a leading location for kids with Hurler's Syndrome. Today we were introduced to a team and a facility that we feel will be able to work exceedingly well with Max and ourselves as we take this next step. We are so blessed that we have such a wonderful resource so close to us.

That said, this is still going to be a very difficult procedure. Before transplant, Max will get a full work-up on just about every system in his body to make sure that even though he's had some problems, there is nothing to preclude going ahead with the transplant. In addition, because he is an MPS kid, he will need to get his tonsils and adenoids out. He also will need to have about 10 other appointments. If all of this happens and a suitable supply of stem cells can be found (they can be found in a sibling's blood or marrow, unrelated umbilical cord blood, or in unrelated bone marrow), then Max will be ready for chemotherapy to wipe out his current cells that do not produce the enzyme he needs. The new stem cells are put in, and then they begin to rebuild his immune system and they contain the ability to produce the enzyme that he always lacked.

There are a lot of factors that will determine the success of the stem cell transplant, but this is the ideal scenario:

1. Grace is a donor match (and does not have the disease - she was tested
today) -- if not sibling, then the next best is cord blood, followed by unrelated bone marrow of a young, healthy male.

2. Max survives the chemo needed to kill his immune system so the new cells can take over. Any slight infection can be deadly when his immune system is so suppressed. At this point, Max will be in isolation at the hospital.

3. Max's body accepts the new cells, they begin to grow and produce the enzyme lacking in Hurler's kids, thereby arresting the disease

4. Max experiences little to no graft vs. host disease

5. We all live happily ever after.

The survival rate for the above "best-case" scenario is about 67-85% which is very good for stem cell transplants overall. That is defined by surviving 1 year post-BMT. As horrible as his diagnosis is, we are so lucky to have been given the news while he is still so young, and his neurological problems have been limited.

Though there is a chance that Max will not survive this treatment, we are concentrating on the probability that he will survive it. Without treatment, as you all should know from our last letter, Max will certainly die. We have a window in the next few weeks and months to try this procedure and we are determined to give our son the very best chance at life. We are so encouraged by some of the stories we've been reading about Hurler's kids who have survived transplant and there is even a local family that mentions us on their most recent update. Please read, this is the exact outcome we are hoping for our little guy: http://www.missmollyb.com/ Another success is Loren's Place: http://www.crystalisland.com/loren/

The doctors are hopeful that Max will be approved, a donor will be found, and transplant will occur in the next 4-6 weeks (Whew!).

As we near transplant we are likely to be moving into Kohl's House which is housing set up for parents of transplant kids. http://www.childrensmemorial.org/depts/siragusa/kohls.asp

Please keep thinking of us and keep your thoughts and prayers for us coming. We are on this path precisely because this geneticist was recommended by someone on our MAX POWER list.

And for those of who have asked what you can do, please encourage yourself or our friends having kids to collect and store your child's umbilical cord blood, you have no idea who you might be helping.

As for the volunteer meeting this weekend, we will have to put it on hold for a while. There is so much to do in the next few weeks (appointments, education, ENJOYING OUR FAMILY BEFORE ALL OF THIS BEGINS, etc.) that there simply isn't time.

Thanks again and we will continue to keep you posted.

MPS Test Results

Dear Max fans,

We would like to thank all of you for the many emails and calls we have received filled with well wishes and good ideas for funding raising.

The results of Max's blood tests came back today positive for MPS Type 1, also known as Hurler Syndrome. Though this is the most severe type of MPS, it is currently the only one with hopeful treatment. As we mentioned in our last email, the FDA just approved enzyme replacement therapy (Aldurazyme) for MPS 1 on April 30th. Max's tests showed that his enzyme level was zero, so therapy is needed badly.

We are meeting with our geneticist on Monday to discuss Max's treatment options. We have already been in contact with the drug company that produces Aldurazyme and our doctor is coordinating what needs to be done. As Dr. Jones described it, Max will be a "pioneer," as the drug has never been given to anyone under the age of 5.

Max will be hospitalized for his weekly 3-4 hour IV treatments and watched closely for reactions. A central line will be placed in him for easy IV hook up, similar to chemotherapy patients. A treatment center has not yet been established in Chicago, so there is work yet to be done before he can begin therapy. Staff has to be trained, etc., etc. The drug company will also be working with our insurance company as it is extremely expensive. We read that costs may be as high as $100,000 per year.

The geneticist will also be discussing bone marrow transplant with us. Until recently, BMT was the only treatment available, and it is very risky and often unsuccessful. We will also be testing Grace for the disease.

Max saw his neurologist last week for his hydrocephalus (fluid on the brain). His opinion was that the situation was not critical and we could wait to perform surgery. Max will be seeing a neurosurgeon this week for a second opinion. Max was also fitted for a back brace today, which involved the very messy and unpleasant task of wrapping him in a plaster cast. It should be ready in about 2 weeks. We hope it will aid him in sitting, standing, walking and enjoying toys.

Despite all of this mess Max has made some wonderful accomplishments this week. Last Friday he began skooching forward on his belly. He also can get up onto his knees for a brief period on his own. We are hopeful crawling will happen soon as well. He is also taking table foods a bit better, and enjoys standing in his crib while holding onto the railing.

We are tentatively planning our volunteer/fundraising idea meeting the weekend of May 24th. We will keep you posted of the details.

Thanks again for your encouragement.

Mike, Margaret, Grace and Max

What Is Hurler Syndrome?

MPS I (historically known as Hurler, Hurler-Scheie, and Scheie Syndromes) is an inherited lysosomal storage disorder caused by the deficiency of an enzyme called alpha-L-iduronidase.

Hurler Syndrome is passed on to a child from two parents who are carriers of the disease. About 1 in 160 people are carriers, which results in about 1 in 25,000 chance for two carriers to meet. Because the Hurler gene is recessive there is only a 1 in 4 chance that a child of two carriers will suffer from the disease. Thus, only one out of 100,000 children are affected with this rare inborn error of metabolism.





(photos are 1, 6, 8, & 11 months old)
As Max grows older, you can see the changes in his appearance as the disease progresses. Hurler children are said to have "coarse" facial features, including widely spaced eyes, depressed nose bridge, bushy eyebrows, turned up noses,short necks and large heads.

Children with Hurler Syndrome are born without an enzyme called alpha l-iduronidaise. This enzyme's purpose is to break down a particular sugar in the body. Because it is not broken down, the sugar accumulates in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness. Sadly, if left untreated, the life expectancy of a child with MPS1-H is only 5-10 years.

Physical characteristics of Hurler children may include larger foreheads, droopy eyes, slightly turned-up noses, clouded corneas, small, chubby hands and feet, and a gibbus, or curve, in the lower back (kyphosis). They often experience repeated ear infections or have chronic runny noses. Some children with Hurler breathe loudly or snore when sleeping. Before diagnosis, some symptoms may progress in certain children. Some may show more heart valve trouble or some may show more orthopedic issues.

Everyone's experience with this disease is different, but there is usually one thing in common: it is usually diagnosed only after many other conditions have been expected. One of the goals of this website is to continue to grow the community of those affected by this disease, and to share our story with those who may have children still undiagnosed but with similar symptoms.

There is no cure for Hurler Syndrome. To date, the only treatment is a stem cell transplant. If a child undergoes a successful transplant, many aspects of the disease are halted. However, proof of stabilizing the disease in the bones still remains to be seen. The oldest Hurler survivor of a bone marrow transplant is in his early twenties. It has been noted that the younger a child is who gets a transplant, the better off he or she will be long-term. For those children whose diagnosis came too late in the progression of the disease to be eligible for transplant, there is still some hope in a newly approved enzyme replacement therapy (ERT). The additional enzymes do a lot to help slow the symptoms in many areas, but much research and work remains to cross over the "blood brain barrier" as it does not yet help neurological regression and atrophy.

More personal information on how we came to learn about this disease with our son can be found in Max's Story.

More information on the different MPS orders, and current news regarding research can be found at the National MPS Society.

Most of this information taken directly from Miss Molly B's website.

Our son is sick

Dear Max Fans,
It is with much surprise, disappointment, and more than a little despair that we find ourselves with the task of updating one and all on the health of our son, Max. This will be a very long email that we must ask you to read. He is very sick.

He has recently been diagnosed with an incurable genetic disorder called MPS (mucopolysaccharidosis). There are many varieties of this disorder but the doctors so far are most suspicious of MPS1 or more commonly "Hurlers Syndrome". All of the variations of MPS are extremely devastating, causing the breakdown of all systems in the body. Patients do not grow properly, some never walk or talk, and almost all end up severely mentally retarded, blind, and deaf. While some strains are considered "mild" almost all patients with this disease do not reach adulthood. Death in the very early years is common. The urine analysis and Max's symptoms so far point to MPS Type 1, but Type 2 and 7 are not ruled out yet.

This disease is very rare, with no more than 1 in 100,000 children affected. Therefore, there is almost no treatment available because there is little funding and little research being done. While Hurlers Syndrome is considered the most devastating, it is the ONLY disorder with therapy approved by the FDA (approved less than a week ago, April 30, 2003). While it will be another couple of weeks before the blood work is finished, we are hoping at this time that Max does have MPS1. This treatment will help to slow some of the breakdown, but it is not a cure. One simply does not exist.

To put it plainly, we are heartbroken. While we never would have imagined life without our little guy, it is an excruciating reality that we now face.

Max's health history leading up to these days may be of some interest to all of you, but it is simply too long to list. Of the utmost concern now is the possible need to "shunt" his brain to take care of excess fluid (hydrocephalus). In addition, Max may need spinal surgery to take care of improper growth of his trunk and back (he has kyphosis - a hunched back). After these concerns, we are sure to encounter more.

We are well aware that this is probably a little overwhelming for you to take in (especially those of you we haven't written to in so long). But we are probably going to need to lean on everyone on this list for quite some time. We have set our goals much smaller for Max, and we are trying our best to not just enjoy him every day, but to celebrate him.

What can you do? We are writing to all of you because we need you. We don't know how to save our son, and we don't expect that you do either. We have heard "Just let us know if we can do anything." We have to warn you, if you say this we will take you up on it.

Besides tending to his daily health needs, we feel the best way we can help Max is to aid in the funding and research of MPS disorders. We have many talented, resourceful friends who in turn know many more people who we hope can lend their skills to our cause. Our plan for now is as follows:

identify MPS experts who can possibly treat Max
learn the legalities of fundraising
solicit ideas for raising funds and awareness of MPS *
* on the most simplistic level, this is the easiest thing for you to do: If you hear of a "Run for MPS" or a charity event with this disease attached, please find out more, and please, please contribute in some way!!

Some ideas we will be working towards are:

approach NU's Dance Marathon charity event
organize a charity golf outing
contact local TV news stations and health reporters for MPS segments
make public service announcements on radio shows
hold fund raisers at churches
If you can think of anything please let us know. Once we have our ideas we will be taking volunteers to execute them. We'd like to host a brainstorming meeting as well.

If you would like more information on MPS please visit the following web sites or contact us. We are still learning about the disease every day.

http://www.mps1disease.com/patient/aboutmpsi/about_mpsi.asp
(this is specifically geared towards MPS1, and if you click on Signs and Symptoms, you will read most of what little Max has been going through)

http://www.mpssociety.org/mps-disorders.html
(for an overview of the disorders from a site geared toward families afflicted with this disease)

http://www.mpssociety.org/mps-disorders.html
(for a much more in depth definition)

For a dose of reality, we encourage you to take the time do download a large pdf file that has been provided by a pharmaceutical company to take you through MPS1. This includes pictures of kids heavily afflicted. We hope you DO NOT find these disturbing to look at. It can be found here: http://www.mps1disease.com/healthcare/resources/res_slide_kit.asp
** this is kind of big so you are best to download it to your hard drive first.

For inspiration, we'd like to direct you to The Ryan Foundation, a group set up by a father of two children with MPS. He began by raising enough money to start the first human trial of Enzyme Replacement Therapy. His funding efforts are what led directly to the only treatment available for MPS. He is a true inspiration, and a ray of hope for our fight ahead.

http://www.ryanfoundation.org/
Please click on the history link to read his amazing story.

Thanks so much for your time. Hope to hear from you soon.

Sincerely,
Mike, Margaret, Grace and Max

PS Please forward this email to anyone you know who could be of help. We really believe in six degrees of separation, so if anyone of you by some crazy extension, are connected to anyone doing research on MPS or genetics or "storage diseases", etc, please let us know.