« January 2007 | Main | May 2007 »

April 26, 2007

Duchenne is a word. It is also a diagnosis but many of us just cannot say it out loud.

I remember well the first day I heard the word Duchenne. It rolled off the physician’s tongue very easily but I found I could not repeat the word. Each time I tried to say it, my mouth felt like sandpaper and I just could not form the word because I was choking back tears. I tried to hide the word Duchenne from my children, from my family and in some strange way , I thought if I did not say it out loud, then by some magic, it may not be real.

We called this new ‘no name’ condition everything in the book –weakness, tired muscles, slow muscles – everything but Duchenne. It was just too hard and I worried what Chris and Patrick would think if they heard the word, the word we only whispered. Family members and friends referred to Duchenne as ‘it’ or ‘the problem’. None were willing to say the word out loud. In retrospect, it is all very sad. The very thing that occupied the most space in my home was the word Duchenne. We took every precaution to ignore it, but it sat in the middle of everything – every dinner, every event, every celebration. It was the elephant on the table. I think it would have been better to say the word we all feared – Duchenne- put it out there for all of us. It would have made things easier because we could have said it, talked about it, cried and then maybe, just maybe discussed another topic. Hiding the word Duchenne seemed to take every ounce of our energy and waste our precious time together and afterall, isn’t life about spending time with those you love.

The strange thing is that we all know that we cannot hide anything from our children. They already know and keeping secrets magnifies fear and not just in our children. Keeping Duchenne in the closet, the inability to say the word magnifies our own fear, our children’s fear and limits our ability to create awareness. I think we need to be honest with our sons, with our family and with ourselves.

Along the way, I have had some informal chats with others who have children diagnosed with other debilitating conditions. The strange thing is that children know they have Cystic Fibrosis, Osteogenesis Imperfecta, Progeria, Cancer, etc- all other conditions seem to have a real name. These families do not hide the diagnosis from their children, rather they bring it out from under the rug and discuss it openly. The families do not discuss what the future holds, in fact they don’t know. Like us, they have hope.

I guess my son Christopher had it right all along. One night he simply said, ‘it’ is part of me, I deserve to know the real name. I thought my heart would break, but his serious brown eyes were not going to let me off the hook. I said it – Duchenne. I couldn’t breathe. He was relieved. He simply said “ok, now can I watch TV?”.

Posted by ppmd at 11:07 AM | Comments (0)

April 24, 2007

PTC 124- What does it mean for my son? What does it mean for all of us?

PTC124 is the first in its class drug to treat genetic disorders. It is very specific and here’s how it works. Genes are recipes ‘read’ by the cell machinery and produce (in the case of Duchenne) the protein Dystrophin. Genetic mutations (or errors) occur within the recipe which makes it impossible for the cell machinery to ‘read’ or makes sense of the recipe. The Dystrophin gene is the biggest gene in the human genome. While some mutations are predictable (family history), mutations also happen spontaneously. Mutations or errors fall in three major categories –Deletions (parts missing), Duplications (parts duplicated) and point mutations (small errors). One type of point mutation is a single base pair change (one letter of the recipe changed) which is referred to as a premature stop codon. It is estimated that approximately 10-15% of mutations in the Dystrophin gene are caused by this premature stop.

As the cell machinery begins to ‘read’ the recipe, it recognizes the premature stop codon and stops reading the recipe. PTC124 is an oral drug that makes the cell machinery ignore the ‘stop’ and continue reading the recipe, producing full-length Dystrophin. It is a major step forward in Duchenne as well as all genetic conditions because a certain percentage (or subset) of all genetic disease are caused by these premature stops.

I must have received 30 or so google alerts about this amazing news and it is amazing. But what if you do not know your child’s mutation. Some years ago, it was not considered important to understand the specific mutation. Blood was sent to various labs (Athena, City of Hope, Baylor, Ohio State, Emory, etc) and often returned with ‘mutation unknown’. Often a biopsy followed to confirm the presence of absence of Dystrophin in muscle. Diagnosis was based on clinical presentation and/or muscle biopsy.

Now it is necessary to understand your son (or daughter’s) specific mutation. It is not difficult, done by blood sample and there are several labs with capability. Please contact us for information – we will soon initiate a genotyping campaign (stay tuned…)

Today, understanding the specific mutation is important because of promising new therapies on the horizon. PTC124 is a first for so many exciting reasons.
1. PTC 124 is a potentially promising therapy for a subset of patients with premature stop codons
2. PTC124 demonstrates the need for genotyping (sequencing the gene) for the DMD community
3. PTC124 demonstrates the need for a global registry, Standards of Care (common data elements) and Outcome measures
4. PTC124 is the first to fill the DMD pipeline and will develop the path for all future trials
5. PTC124 is the first drug in its class to treat genetic conditions
6. PTC 124 is small molecule (taken orally)
7. PTC124 has the potential to restore Dystrophin throughout the body
8. PTC124 has restored full length Dystrophin in the mdx mouse - no immune response.
9. PTC124 has the potential to convince the world that Duchenne can be treated
10. PTC124 raises our hope and our promise for a future with our sons (and some daughters)

Posted by ppmd at 01:31 PM | Comments (0)

April 11, 2007

THE BEST BIRTHDAY GIFT IN THE WORLD

Riley is 15 today. Two weeks ago, we worried he might not be around to celebrate.

Riley’s dad, Ron, ran the Disney marathon in January. He almost didn’t make it because of snowstorms and delayed flights. At the last moment, Ron arrived, just in time for the race. He arrived very late Saturday evening, got up early Sunday, ran the marathon and crashed in his room after the race. He flew out Sunday and early that week took Riley to what he thought would be a routine cardiac visit. Ron did not realize he would soon be running another marathon –this time to save his son’s life.

Riley and Ron planned to see Riley’s cardiologist and planned to spend the day having fun. Riley’s cardiologist evaluated Riley and suggested they get help and fast. A few days later Riley was on his way to Cincinnati Children’s Hospital. The Cincinnati team evaluated Riley, started major cardiac meds via a PIC line (an IV inserted though the chest and into the subclavian vein) and recommended a heart transplant. Cincinnati put Riley on their transplant list, though they recommended another transplant center closer to home. The center closer to home did not seem very enthusiastic and Riley’s family knew they had very little time. Riley was #1 on Cincinnati Children’s transplant list. Riley and his family prepared to ‘move’ to Cincinnati for as long as it would take. They arrived in late February. Riley was not doing very well.

We were all waiting, hoping for a heart for Riley, realizing that our hope had some very rough edges. Someone, somewhere would have to give their heart when hope was lost for them. The thought brought all of us to tears.

Riley’s heart was working really hard. The medications were helping, but it was pretty clear, the medications could not perform magic. Riley was admitted to the ICU. On March 30, things looked pretty bleak. Riley was on borrowed time.

Early AM March 31, Riley and his family was notified a heart was on the way and he would be receiving his much needed heart. On March 31, right around 6:30 PM EDT, Riley was taken to the OR and by 2 AM (April 1) the surgery was complete and successful. The first week post-op was a little rocky with ordinary problems of recovery – pain, nausea, constipation – little things actually. Riley’s heart was just fine.

Today, Riley is 15. His grandmother asked what he wanted for his birthday. Instantly he said – I have my gift, a new heart. Just before I saw Riley on Monday, he had walked down the hall. I found him sitting up in bed, eating pizza and smiling. We all are!

Heart Transplant in DMD. A new day and another sign that things are changing.

Posted by ppmd at 12:43 PM | Comments (0)