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04/24/2012 10:48 PM

random thoughts on Rosie's comment

lisaraman
 
Posts: 795
Member

some past discussions with Rosie, observations of my daughter, and talking with grandma and the moms of the little 'uns on MDJ have put me in a melancholy mood I guess. So I'm just putting down some thoughts that might seem somewhat random-but come from sadness mixed with love and concern for everyone in this group.

Rare diseases are a tragedy and a calling for all of us collectively; yet the nature of these conditions breeds a sense of isolation and loneliness, especially when you suffer from constant pain, stress and exhaustion. For this reason and so many more, having a cohesive support group like ours is vital. At the risk of bringing my work home (hard not to because I "live" spinal deformities), I want to just emphasize the contribution that each person with a rare condition, or each person living with someone who has a rare condition, brings to the table. I just want to draw a parallel to Spina Bifida for those of you who are not familiar with that spinal defect.

Spina Bifida has always been seen as a pediatric condition because "everybody" who had it, received intensive, (short sighted) pediatric care-it was the best that was available until several years ago- they all died though before they reached middle adulthood. As a result of that narrow perspective, all medical research and clinical care centered around pediatric patients. We had a limited knowledge base that has persisted until now.

Because of advances in general medical care, people with SB and other degenerative conditions are expected to live into old age now, but sadly they will be living in pain and with numerous chronic diseases -some that are caused by living 40+ years with SB, and some that occur in the general population. The problem is, we didn't plan for them because our focus was on pediatric issues. Now we don't have a working knowledge or best practice guidelines to follow in the care of adults with SB. They are uncharted territory. You could easily switch the letters from SB to KFS because it is the same story. The people who are in their 2nd 3rd and 4th decade of life are trailblazing for those who will one day be in their shoes. They will teach us how care, or lack of understanding over the lifespan, affects health and quality of life. In rare disease management, both the young child, diagnosed before the body has sustained damage ;as well as the person who wasn't diagnosed until much later in life are vital in the search for answers-cause and prevention.

My daughter has had numerous x-rays and CT scans over the past 26 years. Independently, each scan didn't seem like a big deal...afterall, it was only "one" set of x-rays or one CT on each occasion. Overtime (and she is still young), she has absorbed so much radiation in her tiny frail body, and taken so many different meds from so many different helpful doctors, that it will be a miracle if she can ever become pregnant or have a baby..or if she lives to see middle age. Because doctors didn't have the knowledge to employ a long term view of her health and future quality of life when she was young, and we didn't know enough to advocate for her, they thoughtlessly provided care that served the purpose of the moment, but has impacted her adult life in a very negative way. In one hospitalization for "exacerbation of pain and spasms", she had 5 CT's that I wasn't even aware of, and she wasn't coherent enough to understand what they were doing to her. Each CT scan is equivalent to about 70 x-rays. Over the past 2 decades, she has consumed so many prescription medications that I worry she won't have a functioning liver or kidneys to get her through a long life. And it goes without saying that her tolerance to opioids and muscle relaxers is unmatched. She can take a load of drugs and still be wide awake, screaming in pain. This is the wisdom we get only in retrospect. The point is there are to many unknowns. Why don't we know before birth that a child has KFS? Why don't we know how to care for people across the lifespan who live with progressive diseases?

Please don't think I am saying we shouldn't have diagnostic tests or medications. I'm not. they are valuable and are all that we have for now, but we need a holistic approach to our thinking and toward medical care- from day one. So those who are parents of the young and those who have the battle scars from living many years with KFS (Grandma- I think you and I earned our place in that group too) need to be talking to one another..and more importantly, we all need to be listening, because there is nobody out there who has as much knowledge of how KFS affects a person over a lifetime than this group does-not anywhere in the world. We truly are leading the way and everybody matters in the endeavor.

Love to you all and thank you so much for having such a depth of caring that we can discuss all topics-no matter how difficult among the group. I warned you- random thoughts spurred by an intense month I guess. thanks to all for being part of this amazing group! Lisa

Post edited by: lisaraman, at: 04/24/2012 10:50 PM

Post edited by: lisaraman, at: 04/24/2012 10:50 PM

Post edited by: lisaraman, at: 04/24/2012 10:52 PM

Post edited by: lisaraman, at: 04/24/2012 10:57 PM

Post edited by: lisaraman, at: 04/24/2012 10:58 PM

Post edited by: lisaraman, at: 04/24/2012 11:02 PM

Post edited by: lisaraman, at: 04/24/2012 11:16 PM

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04/25/2012 06:31 AM
jackedupinok
 
Posts: 100
Member

Lisa, Your post is like a discussion I had with my daughter about a problem just a few days ago. Write it down I told her, it will make you feel better. You deal with spinal conditions day in and out not only at home but at work. I try to be strong and not take the huge amounts of meds not because I don't have pain, I just think about what is it going to be like 10 more years from now and save taking the good stuff until then. My kids are still 14 yrs old I need to make it at least until I see what they can acomplish with their lives. You are a wonderful person and I am glad our paths have crossed even though the conditions are not ideal. Andi will make it. She is a survivor. That probably comes from you Smile I hope I do make a difference for a young person with any of the conditions I have. That would make it all worth while. Sounds like you could use a long vacation. Bet that doesn't happen too often. Smile, laugh, and do something that makes you happy! You deserve it!! Cathy

04/25/2012 07:00 AM
lisaraman
 
Posts: 795
Member

Cathy, you are a lovely and inspirational person, and have suffered so much yourself. You will bless every life that you touch, and you WILL be there to share life and happiness with your kids for many years to come. Smile Thanks for understanding and sharing.

04/25/2012 08:35 AM
jackedupinok
 
Posts: 100
Member

Rosie, I envy you in a way that you can't imagine. My family are my worst critics. I am Mom, and yes I must go on. They don't believe that mom can not do something when she has done it for them their whole lives. 2 weeks after brain decompression I had to go off pain meds so I could drive my kids around. My husband had to go back to work. I love my family, they are my life but, I enjoy my time to. That doesn't happen very often. I am sorry that you are alone. WE are all here for you and I know that that doesn't help with taking out the trash. Try to be a happy person, try to forget that you have pain. The mind is very powerfull and you can train it to do all sorts of things ( my neurophysiologist told me that and it works!) I am not a religous person, I try to draw strength from positive people and be encouraging to all. If you want to be a mom Do It!! I had to work very hard to get mine and fork out a ton of cash. My husband and I tell ourselves "What in the world were we thinking" Just kidding. I wouldn't change my life as JACKED UP as it is for anything, it has made me who I am Smile BE HAPPY Tongue STAY POSITIVEWink LIVESilly

04/25/2012 08:36 AM
grandmabrk
Posts: 303
Member

Lisa. Your thoughts are not random. You have pulled together in a few paragraphs the fears and hopes I have daily. The medical profession is fragmented into specialties, each handling thousands of patients daily. Research is expensive and time consuming. Researchers have to jump through governmental hoops for grants. Rules and laws compounded by exorbitant payouts in frivolous lawsuits have led to enormous increases in malpractice insurance costs. The rising costs of equipment and lack of experienced medical office employees for transferring files from hard copy transcription to computer programs is staggering. Can you tell that I had a family member in medical office management?

The internet has given us the ability to communicate with others that have KFS and their families instantly with a simple search. I have suggested before that advocacy will be up to adult patients and parents of children with Klippel Feil Syndrome. We must keep good medical records, network with members of other groups, and stay informed of ways to put rare diseases in the media. SmileI had been a member of online Nystagmus groups, learning disability groups, assistive augmentative communication groups, dysgraphia groups, assistive technology groups, etc. and spent hundreds of hours reading PubMed articles while researching before I found Beth's Circle of Friends group many years ago. As the old cigarette commercial said "We have come a long way, Babe!"

Cathy, you have already helped by sharing your story with me. I have less stress as we wait for William's MRI. Finally got a date for it yesterday. It is scheduled for June 1.


04/25/2012 08:51 AM
grandmabrk
Posts: 303
Member

Rosie, You rock, Girl! What group insulted you by not valuing you as much as I do?

04/25/2012 09:08 AM
Rosie88
Rosie88Posts: 708
Member
I'm an Advocate

I just deleted all I said for the second time! YIKES. I am feeling so frustrated and misunderstood lately and I am quite certainly coming across as a wackadoo. Cleansing breaths. I will try and write something upbeat sometime.. but it may be a while. HA! Grandma.. I think I am just trying too hard to be of use or share input and I end up getting hurt. Sensitive gal I am. I really am much more together than this. LOL I love you all and think of you every day.

04/25/2012 09:38 AM
grandmabrk
Posts: 303
Member

Rosie, love the green advocate badge on your posts.

04/25/2012 10:16 AM
treblig66
treblig66Posts: 461
Member

Lisa, I wish your post was required reading for doctors. You have summed up in a few paragraphs what I've been thinking for the last couple of years.

I don't have much to add, except for one of my favorite quotes, by C. S. Lewis -- "Friendship is born at that moment when one person says to another, 'What! You too? I thought I was the only one."

I am happy and proud to count you all among my friends, and I am so glad that we can all pull together to support each other when we're going through the dark days that we all face from time to time. I'm really glad that I got up the nerve to join this group just over two years ago. It has helped me so much. And Lisa and Rosie, you two are invaluable as leaders! Thank you both so much!

--Gilbert


04/27/2012 06:14 AM
amjolley
amjolley  
Posts: 73
Member

Lisa, I would love to share your post on my blog. I am trying desperately to share Thomas' story and reach out and do all I can. He will be 2 on Sunday, he is only 2 and yet his life has already been an unwanted roller coaster of specialists and tests.

I too wish there was support a foundation an awareness for people who silently suffer as our loved ones and that means all of you as well. Gilbert, I love your quote because all of you have become extremely important people in my life through this connection.

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