Little's Life

Little's Life

Sunday, July 31, 2011

The Diagnosis

Andrew has Duchenne Muscular Dystrophy.  It's the diagnosis we've been dreading.    There is no easy, no sugary way to explain the disease other than to just be blunt about it.  So here goes - My sweet baby boy has an incurable terminal disease.

Duchenne Muscular Dystrophy (DMD) is a rapidly progressing degenerative nueromuscular disease.  It begins in the hips/pelvis, upper arms, and upper legs eventually spreading out to all the skeletal muscles in the body.  There is currently no cure.

DMD is usually inherited from the mother but I don't have any family history of it, that I know of.  Andrew may be one of the rare little boys who are born with disease due to a random mutation in his genes where the protein dystrophen is supposed to be made.  Andrew instead produces no dystrophen.  What this means is that his body cannot hold on to his muscles and as the disease sets in, his muscles will waste away and he will lose all motor function.  The muscle that remains will pull back away from his joints and cause painful contractures.  This is a disease that comes with years of suffering.  Most of the time, a little boy doesn't exhibit symptoms until he is around 4 so in a way, we are lucky ~ we have more time than most parents to prepare for the changes and challenges that DMD will bring.  We know that we have to stay vigilant with his PT to get him up and walking so that he can hang on to his mobility for as long as he possibly can.  Little is fighting SO hard to learn to crawl and walk but all of his progress will one day be taken back away from him - most DMD boys are in a wheelchair by the age of 12.

This disease spreads to the heart and respiratory system causing heart failure and the need for an eventual trach/ventilator to help with breathing  Like all other DMD boys, the day will come that Andrew succumbs to it's complications.  Yes, this disease will kill him.  Most DMD victims die before their 25th birthday due to respiratory or heart failure.

As of right now, today - Andrew is the same happy little angel that he was 10 minutes before the phone call.  He'll still be this way tomorrow, and the day after.  In fact, he pushed himself up to standing today using his step stool and the side of the couch!  This isn't an overnight tragedy for us all, we do have time.  We cannot let this diagnosis ruin what Andrew has going right now.  As for today, all that has changed is a medical record.  I am not saying that we are not devastated.  I am not telling you not be devastated.  Grieving is a part of facing this new life - I spent half of the night we got the call crying and the other half laughing.  It will be a very hard journey for the 25 or so years filled with ups and downs, joys and heartbreak.  And bare with me as I will have posts on here that are sad, angry, and lost from time to time.  But I will also have posts praising God for the little boy He chose to give me and posts of joy over Andrew's ..........oh, everything! 

We ask all of you for your continued prayers.  And maybe one day, those research scientists at the Washington Center for Muscle Biology will find a cure or gene therapy (AHEM, Uncle Danny.....) in Andrew's lifetime and he'll get to be an 87 yr old man someday.  Unfortunately at this time, they don't have "anything good for anything other than a sick rat" according to my uncle.  But for right now, I'm going to say a prayer of thanks bc, as his Attending during our stay at VCH 3 weeks ago said' "He's here now - and he's happy".





17 comments:

  1. So the reason you have this early diagnosis is because you listened to your gut instinct. You knew something was wrong, and instead of waiting it out or just flat allowing yourself to pretend nothing is wrong you asked for help and searched for answers. Andrew is very lucky to have you for a mom. He is blessed to spend his time on earth in your home, with your love, and in your care rather than with any other parents on this planet. You will equally be blessed to receive his love and share his sorrows and joys. You finally have an answer, and from here you can really start living your lives. The freedom and relief that gives you should at least feel like a blessing from God.

    P.S. No one expects you to be Pollyanna about this, but at the same time if you're more Pollyanna than Negative Nancy no one will be shocked either.

    *hugs*

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  2. Your family is in my prayers! I know that this will be so hard but feel that you have the right outlook. Please let me know if you need anything.

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  3. Everyone at To Be Determined (including myself) is thinking of you and your family.

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  4. Oh Katherine, I am so amazed by your determination and candid approach to this whole ordeal. You are an inspiration!

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  5. many prayers. MANY MANY prayers. <3 <3

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  6. Sending many thoughts and prayers to you and your family!
    I volunteered at an MDA camp during summers in college and got to know a lot of special kids with DMD. The camps are just fabulous and the kids absolutely count the days until they get to go every summer. I hope there's one in your area for Andrew when he's a little older!

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  7. I have heard such good things about MDA camp. We're def. letting him go when he gets older!

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  8. I stumbled upon your blog and read about your son's diagnoses. For two years (until August 2009), I actually lived with a girl who is now, 29 years old and have DMD. I teamed with the many people required to help with her daily care. She is an amazing girl and a person whom I'll never forget. She's been in a wheel chair since age 13 and she just recently got a trach. Life for her is extremely difficult because she only have ussage of one arm now BUT, just to give you some hope of what a future life could be for your son:

    *This girl graduated from grad school and lived on campus for seven years
    *She got married October 2009 to a man who loves her so much
    *For a while she held a job two days a week
    *She have a few doctor's appointments BUT the first time ever that she was actually hospitalized was 3 years ago
    *She is able to operate her own electric wheel chair
    *She have a lot of friends
    *Until recently, she traveled by plane and also with her family in the "special" van (The middle seats were take out so that her chair could roll in and the passenger seat is where her wheelchair fits).
    *Until reently, she lived a full life WITH DMD

    byrd10is@yahoo.com

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  9. 29?! That's fantastic! It's always encouraging to hear of someone who is beating the odds!

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  10. Dear Katherine,
    So many prayers to your family! I admire your courage and love for you blessed little boy. My 15 month old son isnt walking yet and the pediatrician just requested for him to be tested for MD. I am devestated and hoping and praying I dont get the devestating phone call that I am dreading :( My son doesnt have any symptoms besides not being able to walk. He has always been developmentally slow in all the milestones but eventually he has done everything except walk and talk. My son can crawl, and pull him self up, but he has no interest in walking on his own. Do you think I should be concerned? What are some signs that would help me determine if he has MD? The doctor said the results will not be back for a week and I just cannot stop thinking about this!!!!!! I wish your family a life full of blessings! I pray that one day they will find a cure for your little man :)

    Amber
    Alynm22@aol.com

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  11. Katherine,

    I just found out 3 weeks ago that my 20 month old has it and there is a high chance that my 3 1/2 year old has it as well. Thank you for making a blog for me to read how another mother feels and some of the things that you are going through.

    Samantha Sabrsula

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    1. You're welcome, Samantha. Thanks for reading.

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  12. I just wanted to say I stumbled upon your blog from an old babycenter post. Both of my boys (ages 5 and 2 1/2) were diagnosed with DMD about 7 months ago. I would love to connect to another mom if you feel like talking. I have really been struggling with feeling alone in all this.
    Jenna
    trljdl@embarqmail.com

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    1. For anyone wondering, I didn't just leave her hanging - Jenna and I are e-mailing :)

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  13. My 2.5 year old son didn't start walking until he was 22.5 months old. He didn't crawl until a year or sit up until 8 months. He's been delayed in all aspects. And didn't speak until 2. He falls 30+ times a day and has gowers sign. He got hand foot and mouth in September. So bad that he was hospitalized because of a complex febrile seizure. And because his temperature wouldn't go down. I am so thankful he had that seizure. We got refered to a very sweet neurologist. And she has told us she thinks our son has some sort of muscle disorder. Which I have assumed for some time now. We just did a bunch of blood work today and he has an EMG scheduled for next week. We're really hoping we get some answers. He has all the symptoms for dmd. And I'm really hoping he has something else that has a better outlook. Just thinking about it upsets me to the point of crying. I'm devastated that something could really be wrong with my baby. I'm devastated for selfish reasons too. I wasn't done having children. I have 2 girls and a boy. I wanted more children. I don't want my girls to be carriers. I'm just really trying to stay positive. But every sign is pointing to dmd. If you're able to can you please email be at Bharveycpst@yahoo.com or maybe be can message on facebook.
    I know you may not see this as you posted this year's ago. But I needed to vent and have no one to talk to.

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