Tuesday, November 13, 2018

Parents: It's ok to NOT be ok



There are situations in our life that we will not understand and not everything will have an answer. Take Blount's Disease for example. For those who have kiddos newly diagnosed with this rare condition you don't know how to react. You aren't getting the answers you need from Doctor's, you may feel alone, overwhelmed, and at some point blame yourself on your child having this condition. You try and keep a smile on your face and be the strong one of the household because at the end of the day you know your child depends on you. Sometimes its easier to hold on to things rather than open up and deal with or talk about. As a rare disease parent, I am here to tell you it is ok not to be ok.

 Remember it's ok to not understand. Blounts Disease lacks in research and currently has no supporting organization for this diagnosis. Don't spend countless hours googling this condition as I was that parent 10 years ago when my girl was diagnosed; and in all honestly it just made me more overwhelmed to see all the research I came across was similar information or old research. Remember its ok to get frustrated. Its ok not to know all the answers. Google is not a Doctor and this type of behavior can affect your mental health. Parenting is not easy and especially when your life is changed due to a diagnosis. It takes a lot to be a rare disease parent and not everyone is made to understand your journey. Remember it is ok to get stressed. Stress is one of those things that happens to anyone no matter what. There is no running away from stress. At some point in a persons life they will experience the emotion of feeling stressed. While it is ok to have these feelings, don't allow stress to become who you are as a person. Learn to take time for yourself and space to center yourself before dealing with the next crazy moment that may happen in your life. Learn to breathe and take however many moments you need. Lastly, remember it is ok to cry. There is nothing wrong with crying! Crying does not make you weak as a person. Crying means you are strong. Crying is believed to help release stress hormones or toxins from the body. 

Do whatever it is you need to do for you. Everyone may have problems in life, but it is important to know you are not alone. Sharing your feelings can bring a sense of relief. The journey of being a rare disease parent is filled with ups and downs. Not being ok is building you to be a stronger person and not everyone will experience the same feelings you may be experiencing and that is ok. Through the events in our lives good or bad, you own everything about yourself; your voice, your feelings, your actions. Its ok to not be ok. 
"There’s no shame in feeling like the world is falling around you, and there’s definitely no shame in asking for help."





-Angela U., Blount's Disease Strong


P.S. It is ok to ask for help or to reach out to vent.  We are all in this together! 













Tuesday, August 7, 2018

Behind Blount’s Disease: Life After Childhood

Blount’s Disease is a developmental disorder of the tibia in either one or both legs. The exact cause is unknown and this rare condition affects under 200,000 people alone in the United States. 
Blount’s Disease can affect toddlers, children, adolescents, and adults. Regardless of age, if Blount's is not treated, it can lead to a deformity of the leg. Life after childhood with Blount’s Disease can be different for each adult. This interview article shares the stories of some adults living with Blount's Disease on their experiences, as well as the goal to help raise awareness on this condition.

                                                           Alicia’s Story

" I wasn't formally diagnosed with Blounts until I was 22 or 23. I went to the Shriner's children's hospital in St Louis, MO when I was 6 years old and they told my mother that I was just missing a lower growth plate and that was why my leg had grown crooked."
                 

" My childhood was a very active and happy one, and it wasn't until my prepubescent years that my leg started becoming uncomfortable at all. Honestly, I had no idea what I had until I was approximately 23. After a doctor's visit I Googled Blounts disease with not a lot of results. I got the basic outlines of it but didn't fully understand it, and I really feel like I'm still learning things about it today. Shriners talked to my mother while I played so I never paid attention. I just knew I was different from the other kids. Around the age of 11 I had to start using manual wheelchairs if I went anywhere that required a lot of walking. A few years passed and I started to want to be "fixed" but things never lined up right, and then I stopped caring. When I finally started caring again I was roughly 22, no longer given the option of places that deal with juvenile cases. After you're 18 your options plummet, and I lost count of how many doctors I saw. In 2015 I found a surgeon who said he could correct my leg, and it even got as far as me lying in the pre-op bed with an IV in my hand. Unfortunately, I had an ingrown hair in the incision area and the surgery was called off. It was supposed to be rescheduled but the surgeon just sort of disappeared. That turned out to be a blessing. My countless doctor appointments only resulted in answers from "I have no knowledge of this condition," to "it's too complicated for me," and then the next to the last doctor I saw, who stated it just couldn't be done. Thankfully I tried one more doctor, who knew of someone who could. And at the age of 27 I finally had my first surgery.
  Dr. Brent Norris (Tulsa, OK) performed a closing wedge osteotomy in January 2018. Basically he cut a small wedge out of my lower leg and moved the bone over, feeling the remaining gap with bone taken from elsewhere. He also placed a metal plate and screw to hold things in place. There is still another surgery to be done that we are currently trying to schedule and that should be all that's needed for me.  I unfortunately have arthritis in my knees for most of my life. Considering one of my legs is bowed and the other straight, I do have length discrepancies but after my surgeries are completed I should have even lengths in my legs. Otherwise, the bowing hasn't seemed to affect anything else.
 Life has been full of adjustments and adaptation. As I got older and had more responsibilities and I had to learn how to get things done, I couldn't just sit on my tush and let people do everything. When I grocery shop I will use my arms to wheel myself while guiding a the shopping cart with my feet. I learned early in life to master what I and my family call "monkey feet." I love to cook but cannot stand at the stove so I use a rolling desk chair when maneuvering through the dining and kitchen area in my house.
 I had the option to correct my leg as a child, but it would have required multiple surgeries gong into my teens if not twenties, and my mother made the decision to not go through with it. I am personally glad, because having this with me all of my life has given me knowledge and experiences that I wouldn't have gotten otherwise. And we have come such a long way since that visit in 1996. So while I am glad I waited, I would advise getting it fixed as soon as possible. Younger bones heal quicker in my experience! And if you go through life not feeling like you want to have any correction, that's great too. You need to make the most of the life you're given. I let my "disability" hold me back for years, and no one should let that happen to themselves. And make sure you're comfortable with any doctor you talk to, don't let them try to scare you into anything. I believe every person is different and you know best how your body works, so don't let anyone tell you anything else. Finding the Facebook group Blounts Disease Strong has been a great experience. Finding out how not alone I am, when previously I had never seen anyone like me. I remember seeing someone from afar and noticing they walked like I do and it made me emotional. It can feel hopeless, not seeing it anywhere, so having that group and seeing people of all backgrounds and ages that know what you're going through is an amazing feeling."

                                      Nicole Cooks' Story

                                                   

"I was 7yrs. old when I was diagnosed with the disease, and growing up with this Rare Blount's Disease was scary and a lot of pain. You definitely go through a lot of stages like depression or obesity from being sad/down. You just want to eat and then the hurt of it all the pain that your legs go through and still very  lack of research. It's very irritating because you have so many people looking at you and then you have to explain to numerous  people what it is and they still look at you like they don’t understand. The only treatment I’ve ever had was 1 failed surgery in my right knee at the age 7. I’ve always had support of my left leg; it was very tough and hard with physical therapy learning to walk all over again. Having my family help me do everything all the way through Elementary, Middle School, High School and even now being an Adult Living with it has still become more difficult. There is definitely more pain than ever like your knee pops more than it ever did and my knee gives out on me when I’m walking so I have to walk slow sometimes and in 2014 I was diagnosed with rheumatoid Arthritis in my knee which makes it not even better. Not only that, but my cartilage in my knee is almost gone so that brings pain to me every day. I also have Spine Issues. I have 2Pinched Nerves in my back that is really bad that I might need surgery on but I can’t right now cause of no Medicaid. Life with It now is just crazy in a way; painful. Sometimes you ask God questions like how?? Why?? Me ?? You know and you just wish that you wake one morning and there is more research and education on this Disease, Doctors Doing more and more people getting help and children can be themselves and not be depressed or feeling like that something is wrong with them at young ages; like for me example dealing with this for a long time with no help no Medicaid. I pay out of pocket for every doctor appointment every X-ray and medication and surgery. I can’t finish school; I can’t do things that my friends can do or normal young girls, and boys my age can do. I can’t walk for no more than 5 seconds without being in pain or my knee pops but I keep going with tears and pain in my body regardless because I refuse to not keep going. If I had advise for someone else who has it is keep your faith God has never left you and keep fighting because just when you think you can’t go anymore or you're tired just breathe and get up and try it again because there is no such thing as you can’t or it’s hard. Nothing is too hard for you can achieve anything you want or fight for. Never let people change your mind or the way you think; live your best life out of your pain or situation but whatever you do don’t quit."
                                        Nollie's Story
"I was born December 8, 1973 with infantile bilateral Stage VI Blount’s Disease, my family was not very wealthy and had no insurance to their knowledge there was no Medicaid for children I was placed on what was called the cripple children’s fund through local health Dept. I was braced (both legs) at age 1 to 5 years of age. At 5 I had double ocelectomy and was casted from thighs to toes in old white casts for 4 months wheelchair/bed bound that surgery corrected my left leg with only
one surgery however my right leg was more severe and required routine surgeries
with wire and hooks up until I reached the age of 12. With each surgery I had to
be casted on crutches missed School. My entire summers were confined at home and one had
to be done during Christmas break from school because of my age and growth it
was horrible!! As a result I have leg length inequality of my right leg but
when I had my last surgery at age 12 and I made it through it, I thought I was
done with that forever!!! I lived the most normal life ever from age 12 to late
20’s then I developed severe osteoarthritis with bone spurs on my knees, hips
and spine that are inoperable as a result of leg length inequality from Blount’s
Disease; and after discussing and researching what little that has been
documented on adults with Blount’s, I have come to the realization that at about
age 30 you start having complications resulting from Blount’s Disease (not the
actual disease itself) and worsens each decade of your life there after. I am 44
now and just recently had a bout with torn Plantar Fascia in my left foot due
to over use and leg length inequality which as I get older my right leg is
gradually getting shorter which causes more pain balance issues and new orthotic
shoes that Medicare nor Medicaid will purchase because I’m not diabetic but I
have to buy them at
$341.00 a pair to be able to walk. Don’t get me wrong, I am forever grateful for
everything that has ever been done to help with my journey with Blount’s
Disease because without it I would have never walked past the age of 18!!!
There is so much more to it than just having Blount’s Disease!! I am telling
you all this because there is Life with disability and I hope that I can inform
some parent ,child, caregiver or whoever how hard it is as a child to go
through it. There was no one; not even some doctors that knew what it was and still today I have doctors ask me what is that? I explain it and all usually get is oh."

Katrina Jacob's Story
"I was diagnosed at the age of 3 in 1979.......             
                      Growing up I
always felt different.  I was the kid who walked with a limp because of
the curved bone in my left leg. I still participated in physical activities
including physical education up until the 11th grade, that's when certain
physical activities became too much for my leg to handle. 
 As far as research
is concerned, I thought this condition was something that happened to the children
born in the 70's like me, even though I knew not one single soul who also had
this condition.   I was surprised to discover that children are still
being diagnosed with Blount's Disease.  I was 14 when the new orthopedic
doctor I was seeing gave this condition a name.  It was my understanding
that I had a severely bowed leg that just grew out of control.   Bow
legs does run in my family so I believed that's what I suffered from.
 My parents didn't explain much as I now believe that they didn't understand
what was happening either.   When I did research on my own, I could
only find limited information like this condition is very similar to Rickets
with possible vitamin D deficiency issues with higher occurrences in overweight
African American children. Well I fit the description of an overweight African American child. 
 I had an osteotomy when I was three.   The bone was broken and reset.  I wore a
brace with the metal going down the side with the right orthopedic shoe to
match.  Treatment was unsuccessful and the bone went right back to curved.
The doctors mentioned performing a second surgery but gave no guarantee that
the bone would ever completely straighten.   My parents opted not to
proceed with another surgery and I adapted to life with my limp. 
I currently have
a leg length discrepancy with my left leg being shorter than the right.  I
have developed osteoarthritis in my left knee and my right hip.  The team
that I am working with now have suggested replacing both but my age and my
weight are barriers to these procedures.   I have had cortisone
shots, physical therapy in the past.  To cope I use hot and cold
therapies,  topical numbing ointments, Ibuprofen and hemp seed oil capsules on a regular basis.
I live a pretty normal life.  There are some things I might do at a different pace
but I still do them.  I have moved away from my home state of NY to live
on my own in the South.  I've gone to college and grad school, and have
earned degrees.   I work everyday as a preschool teacher.  I
still participate in life even when the pain is hard to bear.  I am
passionate about helping others and I have no doubt that I am on this Earth to serve in this capacity. 
 My advice to all of the people with Blount's Disease and their families: Don't let anything stop you from living your best life.  Rest if you must, but don't stop and
don't ever give up! Parents, continue to fight for your children!"

www.facebook.com/blountsdiseasestrong












Wednesday, July 25, 2018

BLOUNT'S DISEASE

                                           BLOUNT'S DISEASE

Blount disease is a growth disorder that affects the bones of the lower leg, causing them to bow outward. It can affect people at any time during the growing process, but it’s more common in kids younger than 4 and in teens. The exact cause of this rare condition in unknown; however, a variety of hereditary and genetic factors are likely involved. 
In Blount disease, a lot of pressure is put on the growth plate at the top of the tibia. This is called the physis and it’s made out of cartilage, which is weaker than bone. The job of the physis is to allow the bone to lengthen and grow.
But this excess pressure prevents the bone from growing normally. Instead, the lateral (outer) side of the tibia keeps growing but the medial (inner) side of the bone does not. This uneven bone growth causes the tibia to bend outward instead of grow straight.
Blount disease is very different from the bowlegs that babies and toddlers have. Their legs are naturally bowed and usually straighten out when they start walking. But with Blount disease — whether it starts in early childhood or the teen years — the curve gets worse if it’s not treated. So early diagnosis is very important.

                                                        What Are the Symptoms?

 The most obvious sign a person might have Blount disease is bowing of the leg below the knee. In young kids this is usually not painful, but for teens it can be accompanied by knee pains (it may feel like a growing pain in the knee area). The pain may come and go. Most teens have already been taking over-the-counter pain relievers for it by the time they see a doctor.
It can cause other problems, too, mainly due to the way the lower leg bears the weight of the body. The tibia can be rotated as well as bowed, causing a condition called in-toeing (when the feet point inward instead of straight out).
Over time (usually decades), Blount disease can lead to arthritis of the knee joint and trouble walking. One leg may also become slightly shorter than the other.

                                                               How Is it Treated?

How Doctors treat Blount disease depends on how old the person is and how far the disease has progressed. Young kids may simply need to wear leg braces. Most older kids and teens will need surgery.
 Many different types of surgeries can correct Blount disease — some involve cutting the tibia, realigning it, and holding it in place with a plate and screws (this is called an osteotomy); some involve removing the damaged growth plate; and some use a device called an external fixator to hold the bones in place from the outside. If a person’s toes turn in, surgeons may correct the twist that’s causing that, too.
If surgery is necessary, it will be done under general anesthesia (you will be completely asleep and not feel anything). Afterward, you might wear a cast and use crutches for a while. You’ll also probably need physical therapy. 
                                                   Other Names for Blount's Disease

Other Names: Tibia Vara, Osteochondrosis Deformans Tibiae, Blount's Disease, Blount-Barber Syndrome, Erlacher-Blount Syndrome.

Social Networking Websites
www.facebook.com/blountsdiseasestrong (closed discussion group)

Reference
www.raredisease.info.nih.gov
www.facebook.com/blountsdiseasestrong

Wednesday, May 9, 2018

Search Results: Zero


House is clean, kids had their bath, and getting ready for bed......it's now 10PM; the house is quiet and I finally have some alone time to myself. I stand there thinking if I should watch some television or do laundry. Instead I grab a glass, pour myself  some red wine, pickup my laptop, and head to the kitchen table with a pen and notepad.

        I am the mother to a child with a rare disease that currently lacks research. I know I am not alone when I say there are many parents of a rare disease kiddo who may sit in front of the computer searching for answers. You could be watching the latest show of Family Feud, but still have your computer in front of you searching for any new information out there on your child's condition. Your brain is like on treadmill mode wondering the who's, what's, why's and how's. 

        Rare diseases that lack research can be frustrating and overwhelming. You may find support groups on social media that help you connect with other parent's and their experiences, but there is still that lack of information to put the puzzle piece together. Whether you are searching for the prognosis, treatment plan, or symptoms, you tend to come across the same old articles with the same answer of the cause being unknown and not enough research is available. Having a family member or yourself diagnosed with a rare condition changes everything. With testing, appointments, surgeries, and traveling, medical conditions can cause anxiety and stress within the household having to adapt to this journey. 

       Visits to the Doctor can sometimes cause more frustration than hope. You then push for another opinion hoping the next Doctor has better answers. Sometimes it takes years before a person is properly diagnosed with their rare condition. Funding for research can be hard when more research is needed on the condition. Many individuals are struggling with no answers and it can make us feel like our condition is forgotten. 

      For now I will continue to raise awareness and bring families affected by my daughter's condition closer together so they feel they are not alone. I will continue to write to research institutes  until my voice is heard. Awareness is key and sharing your story inspires others to help create a movement. Let's help make a difference for our rare community.

-Angela U.
Blount's Disease Strong  

         




Saturday, April 7, 2018

Connect, Collaborate, and Raise Awareness



         Awareness is everything for Rare Diseases. Because there are people like you who may be dealing with the same diagnosis, connecting with others is very important to know you are not alone through the journey. 

                                               CONNECT

      There are many questions that arise with having a new diagnosis or rare condition. Understanding a diagnosis can be difficult and overwhelming. Many experts believe that people can find strength through support groups for example. Support groups give you a chance to share your thoughts, feelings, concerns, and experiences with others who have faced or are facing the same challenges. Connecting with others won't make the problem go away, but it can be comforting to know you aren't alone through the journey. Even when you are around the people you care about, you may feel that they don't understand what you are going through. That is perfectly okay to experience these feelings after a diagnosis.

                                            COLLABORATE 

        There is a need for rare disease research everyday. Today in the world, technology allows us to collaborate with others globally to share possible new medications or therapies that have been discovered in another state or country. It is important that no matter the condition, research can be shared to help find a solution for a diagnosis. Collaboration can help medical professionals and patients with rare diseases to face their challenges.  

                                         RAISE AWARENESS

       Rare diseases can affect patients, their families and society. If everyone with rare diseases lived in the same country, it would be the third worlds most populous country. According to the National Institute of Health, there are about 7000 rare diseases that affect 30 million people alone in the United States. You can help raise awareness by spreading hope. Your story can inspire someone and just might be the story that someone needs to hear. Social media is very powerful and can reach so many people with a simple hashtag or tweet. Awareness for your diagnosis is important and with awareness brings better education and light to the condition. Keep fighting, keep advocating, make a difference, inspire others, and never give up. 


Many diseases go undiagnosed and there is no cure for the majority of rare diseases. The world is in our hands to advocate and make a difference. Connecting, collaborating, and raising awareness can move mountains. A good story inspires movement, so lets be unstoppable!

-Angela, Blount's Disease Strong 

Thursday, March 22, 2018

New Season, New Beginnings


     Spring is here! The flowers are blooming, birds are chirping and it's a new season for a new start. Most enjoy this time of season to spring clean and make a fresh start. Just like with cleaning house, and dusting out the cobwebs, we also need to take time to reflect on ourselves and spring clean what is going on within our own selves. "Spring is a time to find out where you are, who you are, and move toward where you are going" (Penelope Trunk). Having a chronic condition or rare disease can put a lot of stress on the person diagnosed and the supporting family. We get so caught up with testing, appointments, surgeries, and traveling that we tend to forget to take a minute to unwind and refocus ourselves mentally. With bad days come good days. Spring into the new you. Research shows that that having a detailed plan with a positive purpose behind it is your best bet for success. 

   A few small changes can help you mentally in the long run. While getting proper rest helps manage anxiety and stress, there are also other things you can do to help along the journey of a fresh start. Even just spending a few minutes in a quiet place can help with reflection. Love music? Crank up the volume, open the windows and smell the fresh spring air. Find your outlet and live in the moment for life is too short. Be kind to yourself.......

-Angela, Blount's Disease Strong