An adult with KFS ~ Rosie's Story

A couple of months back when I first got the actual diagnosis of Klippel Feil Syndrome for my sweet son, my fingers started burning up the keys on my laptop.  I was searching and googling for others who had it, sites that explained it in a way I could understand and relate it to my little man.  What did the doctors know?  What were they not telling me?  What are our options?  While some of these questions still have not been answered, I have met some amazing incredible people through the process.  There are several who have been very near and dear to my heart.  I could write a special post on each of them.

Tonight I want to share with you Rosie (Sharon Rose). Here is a picture of her with one of her babies, Maggs. 

As a 41-year old patient with the congenital rare disease Klippel-Feil Syndrome (KFS), pain is a normal part of every moment, every day.  Because everyone with this disease has different portions of their cervical spine (neck) fused together, we have different symptoms.
I was not diagnosed until the age of thirty-eight; yet, after having several knee surgeries as a child, due to deformed knee joints, the diagnosis made sense to me. I was told by my orthopedic specialist,  ”KFS is not the diagnosis you want.”

"I thought, eh, we can figure this out. In our day and age, where we have access to treatments, ways of fixing things, and most assuredly there would be ways to alleviate pain, I will eventually get back to normal."

I was wrong. After seeing countless Neurologists and Neurosurgeons, and overnight stays in the hospital for pain, the only advocate I currently have maintained by my side, is a board certified Headache Doctor. I take medications for nerve pain, but the pain persists throughout my upper body, as well as other neurological symptoms that make every day a roller coaster.

Like many of us with KFS, I have exhausted all research outlets on-line and attend my physician appointments, organized and ready to advocate on my behalf. But most times, my research efforts come up empty. In addition to the Facebook Klippel-Feil Syndrome group, I co-lead a KFS group on MDJunction. In the past months, many patients and families have continued to bring up ideas surrounding the need for more research, lack of and need for additional, available treatments.

This congenital disease affects people of all ages. We are unknown, and we suffer.


Currently, Rosie has finally found a doctor who is willing to do the test and do something about what is going on.  She has been to many, many doctors who are basically at a loss.  Currently they have discovered that her C1 is not connected to skull..but its not connected to itself either! It formed as two pieces so it is separating which is causing the constant head pain.C1 is the ring that helps rotate your head. Unstable. The doctor has currently put Rosie in a neck brace in an effort to pick her skull up and relieve the pressure off of the unstable C1.  She will be in this for at least 6 weeks to see how she progresses.  Surgery has not been discussed yet, but I don't think it is ever out of the picture.  In other KFS news they found on the scans that she has several nodules on her thyroid, so she will be moving forward on discovering what those might be and what they can do to heal.

Despite battling her illness, Sharon Rose launched the Klippel Feil Syndrome Alliance on Facebook last month in June. Patients and families dealing with KFS have not had a central place to refer to on a nationwide basis – now they do with the KFS Alliance.  They are currently working on becoming an official non profit organization.  One day there will be awareness, walks and fundraisers for our cause and help people like Rosie and Thomas.

A few KFS patients, families and friends, including two moms in the medical field, have worked together to initiate the Klippel-Feil Syndrome Alliance with non-profit status.

We are just beginning. We are aligning ourselves and gathering patients and families. Many have stepped forward who have similar stories. We are all in this together, with hopes of becoming more recognized within the medical community as well as in the general public.

Funding and research is critical. The Klippel-Feil Syndrome Alliance is focused on research and improving the care and treatment of KFS from birth through adulthood. Alliance is key.

Please take a moment to ‘like’ us on Facebook, or follow us on Twitter, @KFSalliance .

People like Rosie have really brought a lot of peace, love and joy into my life.  They have embraced my journey and Thomas in a very special way.  While its not a journey I chose to be on, I am eternally grateful for dear friends like Rosie.  By sharing our stories and experiences we can help each other and direct to and away doctors that may not provide the necessary support that a patient with KFS needs.  Again, only 1 in 42,000 are diagnosed with Klippel Feil each year so the odds are against us from the beginning.  Please add my dear friend Rosie to your prayers tonight.  She is doing a great job of holding her head up high, but she has suffered for a long time and that weighs heavily on you.  And now she is in a place where answers may be on the horizon for some relief.  

I love you Rosie!!

Is it me?

Okay, so here we are 9 months after the official diagnosis of Klippel Feil Syndrome and I have yet to move forward with the Medicaid Deeming Waiver application.  It is completely overwhelming and emotionally draining.  I have such a hard time trying to write about Thomas' issues and making them sound completely horrible and in the worst case scenario.  The truth is he is doing great!! He is doing such a great job but I know for a fact we wouldn't be where we are right now had it not been for the dedicated therapist who have worked countless hours with Thomas and us working with him at home on a constant basis.  Thomas has great drive and determination and it shows in everything he does and tries to do.  Again, the only thing that I can foresee slowing him down is if the bones in his back do not continue to line up and provide stability for his body and protect his spinal cord. 

I have recently started asking questions about the Deeming Waiver again on a Special Needs of GA support group.  They are phenomenal local parents who have been there and done that.  They had so much love and understanding for me that it made me cry.  They understand how overwhelming it feels to go down to DFACS with your child and wait with all of the other people their with their children. Only they are their for food stamps and help for their families that they can get nowhere else.  You feel as though you don't belong.  You feel like you are trying to take funds away from someone else who needs it more or deserves it more than you do.  I have help, I have people who are willing to support me and help me in any way that we need.  We are not drowning right now because of their love.  Not everyone has that and they have to stay and wait and ask for that help.

Then I see the pictures and read the stories of others and their precious babies and it doesn't even compare.  They need so more than we do.  Thomas is functional and has already overcome so many obstacles in his little life and I really don't see that slowing down anytime soon, again if his bones cooperate.  Then I think how can I make sure that Thomas will continue on this path, its been early intervention medically, its been my perseverance to find the answers and understand what was going on in his little body and what we can do, it was me pushing for evaluations, for therapy, for diagnosis.  Why would this be any different?  It is clear that those with the financial means get the better quality of care and better attention.  I only want the best for Thomas and my entire family and if that means completing this damn application and telling them the worse case scenario then that is what I must do.  I don't have to like it and I don't have to enjoy it.  I need to quit second guessing whether or not its the right thing to do, if its necessary, if, what if. . . I need to leave it to God.  IF we are meant to have help through this system it will be provided.  IF we are not then the care for Thomas will come from another source.  I think I just needed to write this to help me process my thoughts and feel good about what I am doing in my heart. 

Pray for me as I complete the application and the process.  It takes a lot of time, a lot of leg work to get documents from the doctors and most of all it takes me sharing the ugly with an agency that I don't know and have no idea what kind of person will be processing it.  I have already had to fight the insurance agency before and failed even with the letters and documentation to back it up.  Sometimes I just think his condition is too rare and not understood that it is just easier to let it go then to deal with it.

This mama is going to suck it up. . . . for him!

Update on the Spine ~ 9-10-12

Today was our follow up with Thomas' Pediatric Orthopedic Surgeon.  First, if he wasn't the best I would replace him. He is highly qualified and is recommended even from my contacts at Boston Children's Hospital.  It may be that I am not knowledgeable enough but he is a very in the box type of doctor to me and only focuses on Thomas' spine.  He barely seems interested in the Klippel Feil.  Today he did test his neck motion and range but no additional x-rays were done on the area.  I am thankful that I have pursued a NueroSurgeon for Thomas who does focus primarily on his neck and the fused bone are. 

We did have x-rays of Thomas' spine today from the bottom of his neck down.  The newest development is Kyphosis in his lower back on the right side.  Thomas' physical therapist was the first to notice a small knot of muscle forming due to the curvature in his back.  It has gotten larger and quite noticeable.  Thomas' occupational therapist also noticed that Thomas has a difficult time sitting on the floor without support.  In essence most kids have incredible posture, yet Thomas seems to have to hunch over.  This is all coming together now as the kyphosis.  

Our Orthopedic Surgeon seemed pleased with Thomas' spine in that it is stable.  While again his spine is made up of complex triangular shapes in the lumbar and thoaric, his scolliosis has not worsened and the angel is still under the need for intervention.  Thomas' spine has the complex triangular shapes and as long as they continue to balance each other out and protect the spinal cord we are stable.

My husband and I had a long discussion tonight about where we are what we need to do at this time with Thomas.  The end of the year is coming and we are almost done with all of our follow ups for this round.  We both agreed that we need to work with the PT on the kyphosis and see what our options are on improving his posture and core strength the best we can despite what his bones are doing from the inside.  We are also going to follow up with the NueroSurgeon for a MRI on his complete spine including cervical.  We both agree that Thomas has a high tolerance for pain and probably has been in some level of pain since birth.  We want to control that pain the best we can so that it does not go beyond his comfortable threshold.  I feel like the best way to do this is the continue with therapy in such a way that his muscles are strong and help compensate as well as orthopedics in his shoes to aid in support and posture. 

We also discussed our medical finances in retrospect and predicting the future.  We have decided that approved or declined Katie Beckett is worth a shot.  I have recently learned that if you are indeed denied for Katie Beckett that their are additional options through the Easter Seals.  I never knew!!  Its so difficult to find and get information about programs and options.  But I am glad that I am getting the information.  We would not be where we are today if had not been for our family and friends providing financial support to us over the last 9 months.  We are still so humbled and so grateful for every dollar you have invested for our son.

We still have our ENT appointment coming up the end of this month. But we are not concerned with his ears or hearing at this time.  This last set of tubes are hanging in their better than his first set and he is hearing great!!  Such a relief after months and months of him not being able to hear.

We have his feeding evaluation the beginning of October, which should be interesting.  We are also going to pursue Thomas being seen by an Endocrinologists.  We definitely have enough evidence to need a specialists to perform some additional testing in regards to his bone age and size.  While we enjoy him being little, its not just the size that is reason for concern but development regulated by his pituitary gland. 

*sighs*  I feel good having a plan in place for my son and knowing that we do have a good team of therapist and doctors willing to do what needs to be done.  I would by lying if I didn't admit that I still get angry that this is even remotely the way our lives are and that this is our reality.  When we don't have as many appointments and we are living daily its easy to not focus on the potential issues and the things that are at stake.  But when intense appointments like the one today come up, its hard not to feel myself slipping and loosing grips of the hope.  Luckily, I have learned to not let it keep me down.  We have a plan and we will always move forward.  God has got my baby boy in his hands and he is standing beside me the whole time.  Together, we will always be surrounding Thomas with light and love for his life!

 The Spirit of God has made me; the breath of the Almighty gives me life. Job 33:4
God brought this little man in to our lives with a purpose.  I feel driven more than every in my life for Thomas and my entire family.  I hope that Thomas' life touches you in some way.  I hope that you feel God's love and presence over and around you as you read his story.  It matters not where you are in your life or your spiritual walk, you are loved tremendously just like you are just where you are.  

If the past is too heartbreaking and the future is to scary and full of unknowns, live in
the present and be surrounded by those who love you most.

Being Thomas' Mommy is Different

Today I was thinking about how being the mom of Thomas really makes my life different, not in a BIG way which is obvious, but in the little ways. Each of my boys are very special in their own way and hold their own challenges.  My oldest who battles ADHD and anxiety issues, which is a daily battle with us and is exhausting.  He brings a bag of concerns with his medication, diet, exercise, therapy and doctors in order to try and provide him with a healthy, happy life.  My middle child is his own person with a very strong charismatic personality.  He doesn't have to demand attention much in that his personality is so full of life that you gravitate to him.  He does have to deal with the fall outs from my oldest which is heartbreaking.  Then you have our sweet little Thomas, who himself while still little is getting amazingly good at sharing his opinion and speaking his thoughts.  Sometimes with a stomp of his feet or a pout in his bottom lip.  These provide the dynamics for our daily life. 

Thomas very quickly has a way of drawing people to him.  Its understandable with those that we know and love, but complete strangers who don't know his story and don't know him will approach us and talk to him.  Its amazing the light that shines out of this special little boy.  That makes being a mommy to Thomas different.  Then we have days like today.  We have a BIG appointment tomorrow so my mind is wandering and my heart is aching with prayer.  Going to church on days like today is uplifting in so many ways for me.  I can be with my church family and be surrounded in our Father's house.  I walk around holding Thomas keeping the other two in tow as we go from Sunday School to Big Church, etc and greet people all along the way.  People who love and support us daily.  They see me smiling and Thomas waving when in my heart I am on my knees.  My prayers are a little deeper, my worship is a little louder as I put all my faith and hope into our Heavenly Father that he will continue to keep Thomas in his hands.  Praying that all of the progress that he has made in so many ways to continue and that his structure on the inside will continue to support him.  We can see him talking, laughing and learning.  We see him grow and develop his personality and attitude.  We can't see what his spine is doing inside, we can't see what is working and what isn't on the inside.  That is difficult to comprehend. 

Tonight before dinner he complained of his side hurting.  If it had been one of my other boys, no big deal.  We would look at it, check it out and tell them to eat their dinner.  Thomas though, what does it mean?  Is it nothing? Is it something?  We took off his shirt and saw nothing, yet he continued to complain.  He ate his dinner and mentioned it a couple of more times.  We massaged the area and gave him some medicine and he is now sleeping.  But again, this is just another example of how being Thomas' mommy is different.

I will update you again tomorrow after our appointment.  We are meeting with the Pediatric Surgeon in the morning.  The doctor who has been following Thomas' spine for months and gave us the official diagnosis of Klippel Feil Syndrome in his neck on January 9th.  We will have x-rays of his back to see where we are from where we have been.  I never take appointments like this lightly as you really just don't know what could be discovered as his little body continues to develop and grow.  I will covet your prayers tonight in my heart and focus on peace for what tomorrow brings.

Matthew 11:28-30  Come to me, all who labor and are heavy laden, and I will give you rest. Take my yoke upon you, and learn from me, for I am gentle and lowly in heart, and you will find rest for your souls. For my yoke is easy, and my burden is light.”