I understand very well your worry about your little girls, who has this "thing" called KFS. It will take time to understand and accept that your children are going to have this syndrome whole their life and it will cause many problems.
But it´s a wonderful that their kidneys, eyes and ears are ok. We all are unique and what is happening to one Klippel-Feilure is not necessarily happening to other.
When I was baby (55 years ago)my mom asked a doctor to research my neck because I hold it so strangely position. Doctor said ofcourse "it´s nothing wrong about her". I was about 30 years old when I get diagnosis after running years and years after doctors with my pain. Now I think what a good issue to me was live thirty years without diagnosis. I was "normal" and lived "normal". I have "get a man" and I have given birth to three children. It was needed sections because my pelvis is malformed. I breastfeed them all about one year. It was a start to neckpain, but I survived it.
I studied to accountant and it was not a healthy occupation to my spine, not at all. But on the other hand at every jobs it would be something uncomfortable to the backbone. Now I have been part-time pension since I was 42 years old. By the way I have twinbrother, who is ok.
Cindy, by this story of my life I try to tell you that your daughters can do many wonderful things in their lifes. But I know you must now take you time to grieve, worry, cry and hate this hard fate your lovely girls have in this life. And you need time to understand that you have done nothing wrong. Neither you or any doctors would not have to been able to prevent Klippel-Feil syndrome.
In my opinion the most important thing you can do to your children: don´t wrap up them in cotton wool and focus at things they can do and treat them "normally".
We are going to Childrens Mercy it has become a second home for us it seems. We go about once a month for everything going on with them. I will mention to the Ortho doctor about the specialist in St. Louis. Thank You! I am very lucky that the girls' physical therapist has become an advocate for them. She got funding from childrens Merical Network to help pay for travel expenses going back and fourth. It is hard since I have missed alot of work for one thing or another.
05/08/2012 08:36 AM
Posts: 460 Member
Cindy, you're in pretty good hands with Children's Mercy. They do tend to go the extra mile when they need to, and with KFS, they will need to - to understand what they're dealing with and to recommend course of action. I've had three cousins who had children with rare diseases (but not KFS) who went there, and all three were very impressed with the care and special attention they got. Hopefully it will be the same for you. And I'm glad that you have an advocate in the medical field. I think a lot of us would just about give our right arm to have an advocate who is in the field and understands how things work. So often we end up stumbling around trying to get stuff accomplished and learning through the school of hard knocks, when an insider can direct you to get stuff done much more efficiently. Good luck, and keep us posted!
I am new to this group as well. I am 31 and I was diagnosed with KFS at 13. I wanted to touch on the question you had about wether or not your twins will be able to be physically active.
As you've heard from the others KFS affects each of us a little differently. Your girls are lucky to have a mother like you! Your advocating for them and getting them the help they need will make a huge difference. When I was diagnosed no one knew about KFS and the internet wasn't around to connect or inform anyone. Your girls are at a huge advantage.
For me finding the balance between enough physical activity and too much is the key. I need to be active. It helps with everything, however if I overdo it I pay. Yoga, swimming, hiking, walking, and dancing are great for me. Running or anything jarring is really bad. I tried African dance once and couldn't get out of bed for a week after, the combination of high impact jumping and a lot of neck moves triggered the pain. Finding gently ways to move helps.
I started getting headaches and having pain at age 7. As far as pain goes I've had good times and bad times and recently had 3 years where I felt great. If I take really good care of myself. Eating an anti-inflamatory diet. (i.e. no sugar, alcohol, caffeine, or anything processed), drink plenty of water, get enough sleep and exercise, and meditate, I do alright. I take pain meds only when I have a flare up, and can sometimes go months without taking so much as an advil. I also get regular massages and practice self-hypnosis. I think I do pretty well considering the funky mess that is my spine.
Right now I'm in a pain flare up, the worst I've had in years. But I haven't been taking care of myself like I know I need to do. Sometimes it takes a while to get back on track. Thats where I am now, getting the pain under control and making healthy choices.
Also, I have a gorgeous husband and two healthy kids!!!!!! I have a pretty great life, even with KFS.
I share all this to let you know that the future can be hopeful and bright for your beautiful children!
All the Best to you. And thanks for being such a great mother, this world needs more moms like you.
Welcome! We have fraternal twins (boy/girl) with our son having KFS, scoliosis and multiple other medical issues related to the KFS. We are in south central KS having just moved here from the KC area. We have had our son at Children's Mercy for most all of his care and will continue to have him followed there with most all of his specialists. I would be interested in keeping up on your experience at Children's particularly with the Ortho. Dept.
We have been followed by one of the Ortho. surgeons for our little guy's entire 2.5 years. Although we know this particular surgeon is a great surgeon, I have to admit that our experience has not been all good. This Ortho. surgeon was the one to diagnosis our son's KFS correctly and follows him every 6 mths. with routine x-rays, but he has not been able to answer all of our questions. Like others have said, there's no one doctor that is an 'expert' in KFS.
As far as what tests to have done, we were able to get a full spinal MRI easily (which I would recommend you push for). It will give a general look at the whole spine and for our son it was able to confirm that he had a tethered spinal cord (which had to be corrected surgically).
I was in contact with another Ortho. Surgeon who practices in Philadelphia at the Shriner's Hospital there. He recommended getting a CT scan of our son's neck (C-1 to T-1/T-2) as he had persistent torticollis. The Ortho. at Children's only recommended PT as he felt it was a muscular issue. But after 21 mths. of PT nothing had changed with our son's neck. . . he still had the continued headtilt. That included a round of Botox as well which didn't work for him. Although after reading Lisa's comments I'm wondering if we should rethink it. He had it done at Children's as well with a really great doctor from the Rehabilitative Medicine Dept.
After going around in circles with our Ortho. doc at Children's about the CT scan, he flat out told me he would not order it because he felt it would give him exposure to radiation that he felt was unnecessary. This doctor did not have a plan of treatment for his neck at all which left us feeling somewhat helpless. And we had, at the time, multiple PTs and our pediatrican who all thought his torticollis needed to be addressed more in depth. So we went back to talking with the Shriner's doctor about his plan of treatment which included the CT scan. (Actually, they recommend doing the MRI and CT scan at the same time if you can get it done that way so as to only put the child to sleep once). We were fortunate that the timing worked out with the Rehab. Med. doctor as he agreed that our son needed the CT scan and ordered it for us. The results showed that the fusion/malformation at the C-2/C-3 vertebrae were the cause of his torticollis. He has a 24 degree curve in his neck (cervical scoliosis). Our son's last round of x-rays with the Children's Ortho. was in Dec. and he had not even looked at the results of the CT scan. When I mentioned the results he said, "Oh. I'll have to take a look at the report then." But he still has no plan whatsoever about how to "treat" his neck. In the past he didn't show any concern except for his scoliosis in his lower back. We'll see him again in August and hope to have a better conversation about how to best follow our son's whole spine. If he's not receptive to helping us figure out what's best for his neck and his lower spine we will likely transition care to another doctor in the Ortho. Dept. or somewhere else around the country. We just feel like he's neglected his neck for most of his life and it's just not something that can be neglected when you have KFS.
It all boils down to making sure you're advocating for what you feel your girls need. I can appreciate wholeheartedly our Ortho. at Children's not wanting to subject our son to unnecessary radiation but at the same time we felt we needed to know what exactly was going on in his neck. The MRI was just not enough information in our case. And I don't want to even think about how much more time and energy we would've wasted on physical therapy for our little guy had we not had the CT scan done. So keep learning and take it one step at a time. As a mom to a young child with KFS my experience has felt like we're putting all the pieces of the puzzle together as we try figure out how his precious body was created and do our best to find the best way to help him.
If you have any questions about our experience don't hesitate to ask.
Lisa - does the dr. Andi sees at Mellon do anything with young kiddos? Thanks for sharing that info. as well about what's she's dealing with in her neck. Good stuff and more for me to try to understand!
06/21/2012 03:39 PM
Posts: 6 New Member
Hello- I am sorry I haven't checked in lately...life has gone upside down. Last we talked I was taking the girls to see an orthopedic doctor; it went well he wanted to keep and eye on it a few months and see what happens. I recently found out my son (3) probably is autisic (highly functioning) I am feeling over whelmed. All my kids have something wrong and I don't know as a mom how to fix it, i am soo frustrated. My poor baby boy; has so many things against him first he is growing physically really fast, though he is 3 he is average size of a 6 year old and will probably reach 7 foot by adulthood, probably autisic, going to need glasses and the big brother of twin sister with physical deformaties. How do i help my family there is not enough time to take care of all the needs they have, work, and go to school. I am going back to school so I can better afford the things my family may need, at this point I feel it is a losing battle. I want to make a better life for them than i had as i was raised very poor. But autisim screening alone is $3,500. No wonder people do not have their kids tested! I feel like with the girls it is hurry up and wait, what for what it to be too late that makes no sence at all!
Sorry for the rant!
07/25/2012 06:55 PM
Posts: 9 New Member
I too have identical twins, but only one has KFS. They are 8 months old (6 corrected). It is so frustrating sometimes to look at my healthy son and see what my other son should look like and be acting like. It breaks my heart to hear of others that are experiencing the same thing. And you are experiencing it with two children. It is hard not knowing what the outcome will be for our little ones.
We were recently in Salt Lake City, UT but the pediatric neurosurgeon (the only one in the state) wouldn't give us adequate time to ask any questions. He would rush us out the door like he was in a hurry to get to another patient. I felt though, that he just didn't know the answers. I understand that it is, like you said, a hurry up and wait game, but we just didn't feel comfortable with this doctor. So, long story short, we packed up our bags and headed east to Atlanta, where through this network of amazing people, I was told of a group that "specializes in KFS". We are literally still unpacking boxes and haven't even met with the neurosurgeon yet. I hope that this group of doctors is everything we have been searching for.
I think we do have an advantage with our little ones being so young. More doctors are becoming aware of this disease and it seems that pediatric doctors are the ones that are most knowledgable when it comes to KFS. I think that we can only do our best to give our children a future that is seemingly normal and it sounds like you are on the right track. It's hard not to be consumed by worry, doubt and medical bills. We can only do our best to live a normal life. I hope that you find the answers you are searching for. I hope to find answers myself. Good luck with everything.
And trust me, you are in the right place. The people that participate in these forums and the "klippel-feil syndrom friends and family" Facebook group are full of knowledge and experience and are happy to help. I have found so much comfort in my discussions with them. I'm sure you will too.
Post edited by: ali133, at: 07/25/2012 07:56 PM
07/25/2012 10:15 PM
Posts: 795 Member
My daughter is 26 years old . Like you Ali, we have gone all over the country and even the world looking for the best care for her. Unlike you , we haven't found many specialists who see it as more than an incidental finding on an X-ray. for that reason, she, like many other adults were denied adequate care until much later in life. Interestingly, I sent a pile of supporting documents to the prestigious Mayo clinic (among others, Gilbert and I know Mayo very well). They denied my daughter because she was an adult , and they didn't have any sub specialists who understood her KFS. BUT, they said some of their pediatric spinal docs might see her. They all refused.
This is only one of many stories that led to the formation of the KFS Alliance-a non-profit professional organization that will support the support groups, find the specialists across the country or the world, and create a network of people who understand that KFS requires a more comprehensive and aggressive approach. We are always happy to collect and share names of specialist whether pediatric or adult who are willing to support the efforts of the Alliance. Please feel free to share with us any physicians who you think would fit that profile. Best Lisa
07/27/2012 01:44 PM
Posts: 9 New Member
I'm sorry for all that you have been through. I can't even imagine. I hope and pray that we don't experience the same thing. I really think that the only reason that we found out so much about my son so early on was because he was so premature and spent time in the NICU. They had a team of residents rounding on him and with his neck crunched the way it was and with his hypospadias, they immediately suspected that it was some sort of syndrome so they ordered a round of tests. The first was an x-ray, which showed that he was actually missing vertebrae. Fearing that one move could snap his neck, they met with the neurosurgeon at Primary Children's Hospital and did an MRI and CT scan. This is when he was diagnosed with KFS. Nobody, other than the neurosurgeon had even heard of it. They checked him for everything, though and luckily his vertebrae are complete, just misshapen.
My own research lead me to this forum, where I was informed about the Spine Care Center for Kids through the CHOA network in Atlanta. I really liked the fact that it says on the front page that one of the things that they treat is KFS. I also like that it says that they work in collaboration with the Children's Orthopedic Program. In Utah it seemed more like we had to choose one or the other (orthopedic vs neurosurgeon). Here is the link.
I haven't met with them yet so I can't share my experience. But I will let everyone know how it goes. I really hope it goes well because we kind of bet all our cards on this move. If this doesn't work out, I don't know if we'll be able to relocate again.
I know that this is going to be a challenge for the remainder of his life, but I have to hold on to hope. There are people out there who are trying to solve this puzzle. I love all the supportive here and the people that started the alliance group. Awareness is key.
Cynthia, you should check out this blog of one of the moms from this group. She has a young son and writes about all of their experiences and challenges with KFS. It has helped me a lot.
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