Shwachman-Diamond America on Facebook

Shwachman-Diamond America has a new page on Facebook! Please like their page that can be found here: Shwachman-Diamond America on Facebook.

Those of you who know me know that one of my goals is to raise money for research to find a cure for Shwachman-Diamond Syndrome. Please help us raise awareness of this rare disease by liking our page on Facebook and sharing it with your friends.

Thanks!

Shwachman-Diamond America Awards Research Grants

I'm excited to announce that Shwachman-Diamond America has awarded two research grants. One for a SDS MDS (leukemic transformation) study and a second for a SDS bone density study.

I wear many hats! Political activisit, homeschooler, mom, nurse, and I fight to help find a cure for Shwachman-Diamond Syndrome. Thankful for the donors who support SDA and its mission!

Shwachman-Diamond America Approves Additional Funding for the SDS registry

The SDA board recently approved $7,000 of additional funding for the North American SDS registry.  We received info on the registry and have paraphrased it below. For more information or complete details, please contact SDA.

The registry has identified more than 80 patients for the SDSR and has signed consent for more than 70, with data extraction and data entry in progress. 

SDS registry projects for the upcoming year:

1) Continuing efforst to obtain medical records from enrolled patients.

2) Analyzing the data available thus far to define the clinical spectrum of presentation. The goal of the project is to improve diagnosis.

3) Analyzing the family history of patients with SDS to determine the clinical significance, if any, of being a carrier for the SBDS gene mutations.

4) Investigating the clinical spectrum and medical course of patients presenting with "clinically defined" SDS but who lack SBDS gene mutations. Also conducting studies to determine the pathophysiologic basis of disease in these patients.

Of note, these projects depend on increasing patient accrual over the coming year.

Just wanted to keep everyone up to date on what SDA has been doing.

Pattie Curran
President, SDA

The Problem of Pain

No, not the book by C.S.Lewis. We've had some bad Mito days here recently. Joseph has been tripping a lot (he fell down the stairs last night in what he called a "mini fall")and experiencing more pain. It has been a while since he's had a day where he couldn't move or get up from his chair. He's been slow going here recently. Hobbling up the stairs, lying on the floor because he's in pain and keeping his head down on his desk because he is exhausted.

Climbing the Sand Dunes in Colorado was difficult for him. He wanted to turn back. Chris and I took turns hanging back with him, pouring water on him and trying to motivate him to make it to the top. He made it. When we all got back down, he thanked us for sticking with him and motivating him not to quit. It brought tears to my eyes.

Yesterday, we were talking about Currans for a Cure (our team name for the Energy Walk for Life that raises money for Mitochondrial Disease research), and he realized the walk was the same day that he has a football game. He had a small meltdown. He told me that there was no way he could do the walk and then play football. I told him it was a short walk and he said, "You don't understand my pain! If I walk, my feet and legs will hurt so bad I won't be able to play football!"

It is gut wrenching. He experiences pain every single day (doctors believe it is due to the Mitochondrial Disease... (for years his pain (and Sean's) was attributed to Shwachman-Diamond Syndrome, but since the secondary diagnosis of Mitochondrial Disease came along, they now know it is Mito based). It is hard to watch him suffer and not be able to do much of anything about his pain. We can't take it away, we can sometimes make it a little better with medications, but it never REALLY goes away. Joints, knees, hips, legs, back..... chronic pain at the age of 13. Mito also affects many other parts of his and Sean's body, too.

When people see Joseph and interact with him, they would never know how much pain he experiences on a daily basis. They assume he plays football, so he must be okay. Or they assume the pain can't be THAT bad if he plays football. What they don't know is that he has a HUGE desire to play football and motivates himself to play in spite of the pain. Football causes MORE pain. He accepts it, but even I, his mother, have to realize there is a limit-- maybe he can't do the walk AND play football in the same day. *sighs* Those who know him from football will probably have noticed how he tries to keep moving at halftime because if he stops, the pain hits hard.

What he said yesterday was a reminder of the neuromuscular disease he and Sean battle daily. Each one has a different Mito cross to bear. Much alike, but very different, too. Currans for a Cure is walking on October 15th in hopes to raise money to find a cure for Mitochondrial Disease. Right now, Mito has no cure and no real treatments other than high doses of over the counter supplements (and a few prescription supplements) that help a bit, but are not a cure.

Help us... you can become a virtual walker on our team, a real walker on our team or you can make a donation. Please help support Sean and Joseph along with many others like them. You can also like our Currans for a Cure page on Facebook:

Currans for a Cure on Facebook

Heading to NYC

This week, I will be attending the 6th International Congress on Shwachman-Diamond Syndrome.  I'll be posting my notes on the SDS blog.  Pray for all my guys...... no one is used to mom being gone.

My train leaves at 3am and I found myself in WalMart searching for another travel pillow tonight around 9 pm.  There is a story about my travel pillow.  You see, I have three boys and one day several months ago, I noticed the pillow was missing from the car.  A month went by and I still couldn't find my pillow.  One day, a friend's daughter noticed this bright pink "thing" in the tree.  Yes, in the tree.  My pillow was in the tree. At first, the boys had no idea how the pillow came to be in the tree.  I had an idea that it was used as a basketball, as it was in the tree just behind the basketball goal. Later, the youngest fessed up to tossing it and trying to make it in the goal, then it went higher and higher until it landed in said tree.

Ten hours on a train....... whatever shall a mom do?  I'm bringing my rosary along for the journey and hope to read a bit.  Of course, I may just sit, stare and enjoy the quiet with no one calling, "Mom, mom, MOOOOOM!"  It has been a long time since I've been away from my people!

I'm excited to learn more about the latest research on Shwachman-Diamond Syndrome, but am not looking forward to the long days of presentations.  I'm hoping the room has a window!  We'll be at the New York Academy of Sciences at 7 World Trade, so I hope to escape to St. Peter's Church during lunch. I was excited to see their Mass schedule.  They have Masses daily at 7 and 7:45 am and at 12:05 and 1:05 pm!  Of course we all know this church because of 9/11 events, but did you know that this was the church were St. Elizabeth Ann Seton converted to Catholicism? 

I'm back to normal after my Cleopatra episode and I'm ready to go to NYC to the International Doctor's Congress.  Hope to get sleep on the train so I can keep up!  

L

I didn't think I'd ever hate a letter like I hate the L.  I suppose if we are talking cholesterol, L is a good thing, right?  Today I have the L next to the white blood cell count.  Not that we don't know it, but seeing it is a different matter completely.  It is almost bone marrow biopsy time  and I start wanting to hear things like "normal".  Here we are almost 15 years later and Shwachman-Diamond Syndrome is still part of our world.  Mitochondrial Disease is still here, too.   

We've had many miracles over the years, no doubt. I believe the times we've been close to transplant and then had the marrow change for the better ARE miracles.  I also wonder why God doesn't perform that miracle for everyone. David died last year because he needed a transplant, developed leukemia and did not have a match in the registry (Our Joseph doesn't have a match) -- why was Joseph spared and not David?  Harriet passed away on Good Friday and I wonder why her mom didn't get a miracle.  They had already lost Sarah to Shwachman-Diamond Syndrome several years earlier.  Why did their family have to lose two kids?  Of course, I understand that God's will be done....  but I want His will to be that the children live!  I have hope because I am God's girl and I know that he will do awesome and amazing things if it is His will.

We have a long list of friends who have died from SDS complications and SDS transplant complications.  Of the top of my head, the families I try to remember daily in prayer... Angela, Heather, Jessica O, Christopher, Dan, Tyler, Angelica, McKenzie, Jason, Anna,Colleen, Marc, Brendan, Devin, Melanie, Jessica G, Aley, Beatrice, Nathan, Sarah and Harriett We met so many of these families at conferences, camps and while we are at the hospital (Cincy). 

If you are not on the bone marrow donor registry, please consider joining. www.marrow.org  You could be the miracle that saves someone's life! It is easy to join!  no blood draw!  They just rub swabs on your cheeks!

Mikel's Shwachman-Diamond Syndrome Story

National Rare Disease Day

Today is Rare Disease Day.  I'm not sure how I feel about that.  Every day of my life is "Rare Disease Day".  I try to bring awareness to two rare diseases on a daily basis through my work with Shwachman-Diamond America and in helping a little bit recently with Mitochondrial Disease efforts.

I have two boys with clinical Shwachman-Diamond Syndrome and secondary Mitochondrial Disease, so rare diseases are a part of our daily lives and very much a part of our vocabulary.  We can never escape it.  Shwachman-Diamond Syndrome has no cure.  Mitochondrial Disease has no cure.  There are treatments that can help alleviate the symptoms, but there is no cure for either disease.  We know that Mitochondrial disease can be progressive, as can Shwachman-Diamond Syndrome.  Both can be life-threatening and deadly and we've lost too many friends to both diseases.

Yes, we have many blessings and life is good.  We just deal with a lot of medical issues on the side.  I don't often write the bad and ugly side of the diseases the boys have because we choose to focus on our blessings and abilities more than anything else.  For our family, these diseases do not define the boys, they do not define our family.  They are very much a part of who we all are, but they are not the total sum of our lives. They affect almost every minute of our lives, but we continue to enjoy life in spite of the obstacles these diseases bring. 

These rare diseases even come up in confession for me.  Just a few weeks ago, I had to confess that I was angry with God and tired of urine. It happens. I don't always carry my cross squarely on my shoulders with Joy as St. Josemaria Escriva reminds us we must do.   I battle with God over accepting them and am sometimes angry with Him for allowing these monsters into our lives.  Mostly though, I am thankful that we have been chosen to suffer in this way for Him and with Him.  I once told a friend that I could never identify with Christ Crucified until we'd lost so many babies and we dealt with having sick children. 

One Divine Mercy Sunday many years ago, I remember sitting outside at the Shrine of Our Lady of Czestochowa in San Antonio, TX.  They had one of the largest Divine Mercy images I have ever seen hanging outside during Mass.  This was the first day I fully accepted that Sean had been diagnosed with Shwachman-Diamond Syndrome.  I'd been battling with God about this for months.  Later, when Joseph was diagnosed, I battled again.  I even told God that He'd only had to have one Son crucified.  There was a point when I would even say this to the Blessed Mother (I fully admit I am not always on the path to sainthood!). The points at which the doctors have believed the boys would need a bone marrow transplant, the times I've seen my children suffering without being able to help and watching them fight the daily battles to overcome obstacles have been my biggest crosses.  I've begged God to heal them and give me a death by the worst and most painful cancer there is in exchange for their health.  Over the years, I have come to learn that healing comes in many forms. Spiritual healing and physical healing.  I also believe acceptance is a form of healing, too.  Just being able to accept the crosses without getting caught up in the why of it all can be quite freeing.  Of course, when I ask, "Why me?", Jesus usually replies from the cross, "Why me?" I get your point, Lord. 

In the middle of the night one night, I called a friend. She came with me to Eucharistic Adoration at our church, St. John Neumann, and we both laid on the floor before Our Lord and wept.  I think this was the first time I could identify with Christ on the Cross.  Until then, I knew He'd said from the cross, "Father, Father, why have you forsaken me?" but I could never understand how the Son of God could say such a thing. Of course Jesus knew His Father was with Him always.  That night, I realized that Jesus knew His Father was with Him, yet He cried out anyway.  I felt the same way.

As a cooperator in Opus Dei, my faith developed as we were taught at weekly gatherings and monthly retreats. I began to realize that all of these late nights with sick kids, the suffering, the pain and everything involved was a way for me to sanctify my life, if only I would offer it to God and allow Him to use it according to His Will.   I've tried to help my children do the same in their battles with Shwachman-Diamond Syndrome and Mitochondrial Disease.

Joseph doesn't like to talk a lot about his daily "medical procedures".  He has written articles about them in the past because he hopes his words can be of help to another child.  We live by the clock for timing of these things-- every four hours. Pills at every meal and main medications in the morning and evening. Pills before exercise, other medications to mix in with drink or food and IgG every week (SCIG). We have battles to take medications on many days, but mostly the battle is them remembering.  It isn't like they are left to their own devices to remember.  It is mind boggling that I set the pills out and remind them and they STILL forget!  Luckily, God never forgets us! 

One of the most gut wrenching moments for me was when Joseph had to start cathing.  The doctor told us both and was going to send a nurse in to teach us.  They left the room and Joseph started screaming, "NO! NO! I don't want to do that!  I don't think Jesus is with me!  If  He was with me, this wouldn't be happening! NO!"  He had tears streaming down his face and I tried my best to stay calm and collected.  I hugged him as tight as I could and prayed that I could take this cross from him. The nurse came in and I asked her to leave us for a few minutes so that we could pray.  We prayed and asked God to help us see the bright side of illness.  We offered it up for several people we knew going through hard times.  It was hard, but Joseph did it for Jesus.

Several weeks later, skipping through a parking lot Joseph said that cathing wasn't so bad.  His dad asked, "Really? Where'd you learn that?"  Joseph replied, "Mom taught me how to look on the bright side." 

I'm not always looking on the bright side, I do have my moments.  When Sean has a migraine that lasts many days, I can't find much good in that.  Their daily pain (Like yesterday, Joseph was hobbling around all day because his hip hurt) and chronic fatigue is something else I battle with seeing the good.  Joseph has been battling an infection for six weeks now and I have a hard time finding good in that, too.  They have learned to offer it up as a prayer to Our Lord and it is life as they know it.  That is the good that comes from it. They tend to be more compassionate and understanding of others, too.  We don't take so much of our lives for granted because we know how quickly things can go in the wrong direction.

Today, offer a prayer for those battling rare diseases of any kind.  Many of these rare diseases have no cure and very few treatment options.  Pray for those who have lost their lives to any rare disease-- including Neuroblastoma (rare childhood cancer)-- we've lost a few of our hospital friends to neuroblastoma.  I realize that Shwachman-Diamond Syndrome and Mitrochondrial disease are but a few in a long list of rare diseases. 

Bodie, Our SDS Friend

Bodie is a 5 year old little boy with Shwachman-Diamond Syndrome who just had a bone marrow transplant last month.  His dad is in the Navy and they have a wonderful family.  We've met them several times at Camp.   You can read about Bodie on his new website: http://www.bodiejames.com/  His family shares his transplant journey and they are trying to raise money to help pay for medical expenses.

Please keep Bodie and his family in your prayers!

Lists, Lists and more Lists

I'm a list maker. I have lists on all of my electronic devices, but my favorite lists are on post it notes. Throughout the day, I check off what I have accomplished and add more to the list. Each night, I rewrite the list, removing the items already "checked off". Just as the father in the original Cheaper by the Dozen play, I think that better organization is ALWAYS of general interest! Is there a patron saint of organization? If not, there should be!

Through Shwachman-Diamond America, we send out SDA Cares packages to Shwachman-Diamond Syndrome children in the hospital. This month, we have three SDS friends going through transplant. I was able to get the donated items packaged and ready to mail out. Please keep our friends in your prayers. We also have a young SDS friend who went through transplant last year who may need a second transplant. The doctors are going to try a boost of bone marrow stem cells to see if this helps, they will try this twice before deciding to go to transplant again. These are friends that we have met at camp or at the hospitals and we hold each of them close to our hearts.

In the moments I felt a bit overwhelmed with all the tasks yet to be done, I thought of our friends who are going through transplant. Sometimes, we need the reminder that in the middle of ordinary life and ordinary frustrations, we have a lot to be thankful for! We are abundantly blessed.

In other news, I'm busy transferring our family website over to this blog. I even enlisted the help of a designer... so hopefully I will soon have a great new design! I'm excited..... and then our family website can revert to the free site. It was only a few dollars a month, but I found I like this format much better. It is going to be SO cute! So, if you notice the current changes, they are all in preparation for the new and updated version.

Joseph is working through his confirmation classes and really enjoying it. This week he told me he really had fun reading the various readings and being able to vote on the OT reading for the Confirmation Mass. Next week they will vote on the other readings.... he is very cute!

Baseball season is upon us! Sean has his first practice session this Saturday! From here on out, it will be baseball, baseball, baseball!

A quote from my spiritual reading today:  "The children of God care about every soul there is, because every soul is important."  ~ St. Josemaria Escriva

Christmas Wishes

Every year, as Christmas rolls around people start asking, "What do you want for Christmas?"  Truthfully, what I want isn't something that anyone can give. Well, other than God Himself.  I want a cure for Shwachman-Diamond Syndrome and Mitochondrial Disease.  I want to never bring my children to the hospital for medical tests and procedures.  I want my children to be healthy and not have daily health problems that impact their lives.  Sounds like I'm asking for a normal life, doesn't it?

Over the last several years, we've had to make 15 out of state hospital trips and every fall, we end up having several surgeries-- this on top of the routine bone marrow biopsies and other testing.  This fall was the first fall in 5 years that we didn't have an extra surgery scheduled.  That certainly doesn't push us into that elusive land called normal.  We've had high blood pressure (one child, not mine!), dizzy spells, severe migraines, and lots of their continuing pain issues over the last six months.  I wish that we knew there would be an end--- if this next battery of tests were the end and we could fix it, then we could fix it and get on to regulalry scheduled life. That would be a gift-- fix it-- find a cure! 

Yesterday, I was thinking about our oldest son.  He is "normal" and healthy.  I was wondering if, perhaps, the problems my other two have on a daily basis might be in the realm of normal.  Our oldest rarely, if ever, complains of pain, headaches or anything.  He has never had trouble walking -- except for the time he sliced his leg open when running into a metal bleacher.  His blood pressure is normal.  He is rarely sick...and when he is, it never gets too bad.  Just small colds.  When I do this, I realize there REALLY is something wrong with my other two boys.  Sigh. 

All I want for Christmas is a little slice of health!  If the tilt-table test isn't normal, then we won't have to repeat the MRI (he has a small lesion -left temporal lobe) and we will have an answer.  I don't think the lesion is an issue-- we found it in 2006, repepated MRIs with and w/o contrast and an MRA tat same month, then repeated the MRI the following year (2007) and the lesion showed no change at all.  His headaches have gotten worse and the dizzy spells seem more frequent, but that really could be any number of things.  We are trying to get the youngest in to see the MDA clinic PTs.  We've heard they had experiecne with Mito.  The last time he went to PT, the PT made the pain worse.  Here's praying the MDA clinic PTs know how to help him. 

We Lost Another Shwachman-Diamond Friend Today

David Smyth passed away today.  He developed leukemia and needed a bone marrow transplant.  Unfortunately, there was not a bone marrow donor match in any of the marrow donor registries around the world. Saving David Smyth was a website set up to help find a match and keep people updated on his condition.

It is always a shock to lose another Shwachman-Diamond friend.  We know all too well that it could be us losing a child one day.  Back in 2006, early 2007, they felt Joseph may need a transplant.  We were close enough that they ran him through the registry (Prelim search) and found that he had no matches.  I cannot imagine the pain that David's family is going through....but I can really appreciate the statement, "There but for the grace of God go I," today. 

If you have not registered to be a bone marrow donor, please consider joining the registry.  You could Be the Match and be the one to save a life.  http://www.marrow.org/

We received the bone marrow biopsy results back this week and things look okay for another year.  We're the lucky ones right now.  I cannot imagine losing a child.  Please keep the Smyth family in your prayers.

Benefit Concert for Shwachman-Diamond America

We had a great turn out for the Benefit concert.  We raised $282 for Shwachman-Diamond America

25 children performed!  Thanks to everyone who made thsi a success-- especially Margaret McDonald, Director of St. Mary's Music Academy.  Above is a picture of some of the performers.  Several students left before we could get the picture in. 

Inspiration for Today

Joseph's article appeared along with mine in the recent issue of the Shwachman-Diamond America eNewsletter
http://shwachmandiamondamerica.org/cgi/wp/wp-content/uploads/2009/01/sdajanfeb09-newsletter.pdf
I post this not for our articles…but there are several very good articles in this newsletter—one is Brooke’s story. She developed sepsis as an infant and almost died. She survived and had to have her toes amputated and the sepsis caused damage…her one leg turned, etc. She had a bone marrow transplant several years ago and this past summer had her leg amputated. She is doing amazingly well and I think you will find her Shwachman-Diamond story inspiring.

I have been blessed to meet so many amazing people on the journey we call SDS Highway 101. God has blessed us with an amazing Shwachman-Diamond family and I wanted to share them with you this morning! Perhaps you are dealing with a life-threatening illness or know someone who is….these children are an inspiration to us all. If you would like to read past issues, we have the back issues of the newsletters posted on our website (link to follow). We have many children who have written articles—the SDS children themselves and their siblings. http://shwachmandiamondamerica.org/newsletter.html

My Boys' video for a cause