« March 2005 | Main | May 2005 »

April 29, 2005

Remembering Patrick

What do you do with a child that starts every sentence “now mom, it isn’t what you think”? What do you do with a boy who believes school is for others and homework illegal (after all I spent the whole day in school)? What do you do when you find him dividing his homework assignments between friends (he called it sharing)? What do you do when you find him gambling in religion class? What do you do when you are called to school because he set up a gambling scheme on the NBA Final 4? What do you do when you find he had a friend buy bottle rockets and firecrackers, illegal in Ohio and the police visit your home? “Mrs. Furlong, did you know explosives are illegal in Ohio?” “No officer, I did not. When exactly did they make such a law”. “In 1950 Mrs. Furlong and let me remind you, we were here last year with the same question.” What do you do when you are trying to be serious, trying your best to assume the role of strict parents and you look straight into his eyes and see that little sparkle and the corners of his mouth crinkling as he tries desperately to hold back his smile? You smile. You welcome his creativity and his monkey business because you are afraid it may disappear someday. You are thankful because each moment is important and each smile worth remembering.

Posted by ppmd at 09:38 AM | Comments (3)

April 26, 2005

Michelle (a.k.a. Mush)

On April 27, 1976, we had our second daughter and from somewhere down the hall we heard Paul McCartney singing “Michelle, my belle, these are words that go together well, my Michelle” and we realized we now had our ‘Michelle”. As a little boy, Patrick had trouble saying Michelle and our neighbor began to call her “MUSH”, a nickname that felt just right and sticks even today. Early on, Michelle had an imaginary friend, Sherry Comfort. We learned quite quickly Sherry had no love for meatloaf, vegetables or bedtime and she made it perfectly clear, Michelle needed her own room.

Michelle was growing up - patient and kind and always willing to help. How the boys loved her and it was Michelle they relied on to help with homework. Patrick and Chris knew mom was not the ‘go to’ person; rather Michelle was the guarantee for success. One day, I had helped Chris with his Geometry, describing my own methods for solving problems. Chris was patient with me, listened and smiled and waited until Michelle arrived. He knew my geometry skills had long since passed.

When the boys were diagnosed, Michelle was at their side, at my side. Strong willed, independent, compassionate, kindhearted and loving, Michelle is 29 today.

Posted by ppmd at 11:41 AM | Comments (1)

April 22, 2005

School

After Chris and Patrick were diagnosed, I walked into school and everything looked different. The teachers looked different – they seemed to look at me differently and most certainly at Chris and Patrick in a different way. Even the walls looked different, the stairs higher, the hallways longer and the books heavier. I found myself trying to explain a condition I had trouble comprehending. I found stairs difficult and stares even more difficult. Navigating the system, trying to figure out what was available, what was possible, what the school was willing to do, it was all difficult and overwhelming. What seemed to add immensely to my frustration was using Duchenne as the scapegoat for everything else that happened. If Chris or Patrick had the flu, it somehow related to Duchenne. If they were sad, happy, excited or even silly – it was about Duchenne. One day, Patrick’s teacher called me to say he was ‘zoning out’ during class. Let’s see, it was not possible to believe that he was nine years old, could be tired, might be bored or just might be like the other children who from time to time, wanted to be doing something else. The diagnosis of Duchenne makes everything in life a little cloudy and it is often very difficult to separate Duchenne from the child, but it is after all necessary and critically important.

Posted by ppmd at 03:03 PM | Comments (0)

Creativity

One of the things that will always amaze me is the creativity of our children. I guess it should come as no surprise really, there is something wise, something unique, and something exceptional that’s obvious right from the beginning. I cannot put my finger on it, actually cannot say exactly, but there is something very unique. I could see it in their eyes. Often when I looked at Chris and Patrick, I found it difficult, and often had to turn away and I don’t know why. I found such a profound honestly. I had a sense that they knew far more about Duchenne that I would ever know. I knew they protected me as well.

In retrospect, it is obvious. From the day they started walking, they were experts at accommodation. They used their arms, when the muscles of their hips and legs needed some assistance. They took steps, one at a time, recognizing their strength was better on one side or the other. When they experienced weakness in the hips and legs when walking, they reduced the burden by changing their center of gravity. They are experts in ‘making do’, making accommodations, making it work. Is it any wonder really, that creativity is innate, that the ability to shift priorities, manage or figure out another way is a typical day in their lives? Thank heaven for their creativity, for their goodness, for lighting our way.

Posted by ppmd at 03:02 PM | Comments (0)

April 14th - part 2

Did you ever have a day when you planned to feel sorry for yourself, when you woke up feeling you did not have enough rest and the day was going to hell even before it started? April 14 was just such a day. The day seemed to drag and I felt like I spent most of it running in circles, rather than taking steps forward. My husband called with a flat tire, asked me to run an errand and I was already late in leaving for a 5:30pm meeting. The expressway was a mess and the radio suggested a 45-minute delay. I felt as if I had all the reasons in the world to be grumpy and I was ready to complain to anyone who was willing to listen. I had been invited to participate in a discussion about an upcoming fundraiser, organized by close friends of a lovely family from Boston. The meeting was held in a beautiful area of Cincinnati, actually one of my favorite places. The day was warm, sunny and we met on the Square. Typically meetings about fundraisers are just that – corporate donors, invited guests, expanding the guest list, silent auction donations, venue, dress and money – wishing for millions with a reality check somewhere along the way. I was prepared for such a discussion.

What I found was quite different from what I expected. One by one, about twelve women joined the group. They were clearly in charge of the event, had delegated specific duties to specific individuals with expertise, had a great handle on the event and were progressing very well. They surely did not need me to discuss how to manage the event. What was evident is their deep love for their friend, their empathy about her son’s diagnosis and their intense need to ‘get it’, to understand the diagnosis of Duchenne, the pain this family was going through, their feelings of hope and hopelessness on any given day and how they might work together to change the outcome.

Over these last 20 years, I won’t say “I’ve seen it all” but in a strange sense I have watched a great deal. I see this diagnosis change families forever. I see family members becoming so close it is suffocating and I see family members distancing themselves, for reasons that I find are difficult to explain. I’m sure, if we asked, there would be all sorts of reasons, but from this end of the stick, I am quite sure most of the excuses would seem pretty flimsy. Friends are the same – some sticking by for the long haul while others, seem quite content to stay in the world that existed before the diagnosis.
The women I met on April 14 are bright, intelligent, compassionate and willing. They have rolled up their sleeves, grabbed the rope. It is pretty clear from the first moment I met them that they are adding every muscle they have for their friend, for her sons and for all of us. It’s funny, in the midst of a storm, the faces of real friends become very clear.

Posted by ppmd at 03:00 PM | Comments (1)

April 14, 2005

April 14th

I was in high school when JFK was assassinated (and don’t start counting!).  I remembered the phrase ‘Johnny, we hardly knew ya’, repeated so often during the funeral and the years that followed.   Some things just stick in your mind, like a certain song that won’t go out of your head.  This one stuck and I was never really sure why, but at certain times I hear it in my head again and again...
Chris died at 17.  Today he would be 27 and that phrase “we hardly knew ya’ seems quite appropriate.  We had Chris for only 17 years.   We knew well his gentle spirit, his loving touch, his quick mind and his infectious giggle that came so easily.  
After a long day of school, he would concentrate on his homework and on one particular day when he looked very tired,  I suggested he ignore his homework and rest.  He looked at me with those huge brown eyes and simply said “this is how I compete”.  He was right of course.  He had wisdom well beyond those 17 years.
I have him now only in photographs and memories - Photographs spread all over my house, in my heart and in my brain, like so many postage stamps.  I wonder what he would have been like as a man.  I find myself putting his face on every 20 something young man I meet and thinking about Chris, wondering what he would be like as a man.  I find myself trying to calculate his height, trying to figure out if he would have concentrated on architecture in college, what he might be doing if Duchenne had not taken him from me.  
So this day, we celebrate the few moments we had with this wonderful boy, my son Chris.  After all, he actually started PPMD because he said “it would not be fair to have a cure for only Patrick and me, everyone deserves help’.   The words of a child, accurate and crystal clear.     He asked me to help in his absence.  

Posted by ppmd at 04:52 PM | Comments (3)

April 11, 2005

April 11

My daughter, Jenny celebrates her 31st birthday today.  Seems just yesterday, she was a little girl and I’m almost sure she would be embarrassed if she knew I was telling this story about her.   It was December, 1984.   Every day following Chris and Patrick’s diagnosis was more difficult than the last.  December was no exception  We we had planned a trip to Disneyworld, though honestly my heart was not in it.  Relatives and friends were urging us to go using phrases like “enjoy them while they are here”, or “go, while they are still walking”.  Words and phrases that made me see red, each feeling like one more slap in the face, one more reminder.  Tom had planned to attend a medical conference and I would spend the day at the Park.  Patrick was 4, Chris was 6, Michelle was 8 and Jenny 10.   It was a little tedious because the boys would get tired and the girls had the idea that we should stay until the park closed.  Often, I had carried Chris and had Patrick piggyback.   It happened to be my birthday during that time and I was doing my best to ignore it and to hold back tears.   Jenny asked to go into a store ‘just for a minute mom and you wait outside”.  I remember thinking ‘more junk to carry’.  Jenny came out of the store, all smiles and handed me a small package – a dinosaur named Figment.  She smiled and said Happy Birthday Mom, this is my friend Figment and Figment (of your imagination) believes dreams do come true.”  Her words touched all of us, made us smile and gave us hope.  Figment still stands in my kitchen, reassures me, gives me hope and always makes me smile.  Jenny, loving, tender, kind and beautiful – heaven-sent to me.

Posted by ppmd at 09:18 AM | Comments (1)

April 06, 2005

Happy April

Thank God winter is over, the snow has melted, the sun is beginning to break through the gray and we will soon be on daylight savings time. I like the idea of saving daylight and in so many ways it parallels our goal – saving time.

We seem to be caught in a whirlwind and it certainly feels like progress.

In January, we held a meeting on antisense oligonucleotides (AON). The goal was to develop a consortium to accelerate AON therapeutic application to the clinic. This effort is well underway, documents signed and moving forward. You will hear more during our annual conference, scheduled from July 7-10, 2005 in Cincinnati, Ohio.

We initiated work with PTC therapeutics in 2003 with the goal of identifying small molecules (orally available medicines) on specific targets to slow or halt muscle degeneration in DMD. High throughput screens on 5 targets are complete. We have ‘hits’ on all targets and now begin the work evaluating these hits (called "Hit to Lead") to determine their potential benefit for our sons.

If I look back 5 years ago, we had little to hold onto, only our hope and a dream that things could and should be different. Today, we have some real possibilities for our sons ranging from AON to therapeutics and we can see them on the horizon. I also know that TIME – time to translate, time to clinically evaluate and time to approve involves time and some of you believe you are running low on time.

There are several trials expected in 2005:
1. PTC124 – for boys with the premature stop codon
2. Myodur (Ceptor company) calpain inhibitor
3. BBIC Protease Inhibitor
4. AON – Exon 46 - single muscle. Clinical trial in the Netherlands late 2005
5. AAV/micro Dystrophin /single muscle

Posted by ppmd at 12:36 PM | Comments (1)