Katie is a very special 18 year 6 month old girl who has a very difficult medical history. She was diagnosed in April 2009 (finally) with two extremely rare Genetic Disorders. The first is Trichothiodystrophy (TTD), the second is Xerderoma Pigmentoseum (XP). She also has numerous secondary diagnosis', which are: Mitochondrial Myopathy, Autism (Asperger Syndrome) as well as mild Cerebral Palsy. It took us 11 years of running into brick wall after brick wall to finally get to the right person who eventually got us to where we needed to be. We were accepted by The NIH in 2008 and began the study in April, 2009. She is seen under The National Cancer Institute at The National Institutes of Health in Bethesda, MD.
July 21, 2016
Friends and Family,
It has been quite some time since we last updated, but we are back with positive news. We are heading back to The National Institutes of Health in Bethesda, MD to continue Katelin's study!!! This is great news since we haven't been able to go back since 2011. A lot has changed in the last 5 years, and a lot has also stayed the same. We have been fortunate enough to continue Katie's care here in Kansas City at one of the top rated Children's Hospitals in the Country, Children's Mercy. She has an amazing team of 13 Doctors, from dermatology, neurology, SCAN clinic, surgery clinic, neuropsychology, psychology, psychiatry, ophthalmology, re-hab medicine, genetics, personalized medicine and several other clinics which keep us very busy. We have been seeing all of them regularly, as normal. Katie is doing very well as far health and school goes, and we are beyond thankful for that. She turned 18 in January (how time has flown) and will be a senior in high school. (yes, I said senior) She is doing extremely well in school and loves it. School is somewhere she has had great success because of her amazing team of teachers and the structure and security her self contained classroom gives her. She takes frequent trips to The Farmers House, a place where special needs children work and learn life skills. Her teachers also take them to a daycare to help with the children, this is where Katie seems to do best because she loves being bossy :-). They also take field trips to Sonic as well as many other community based instruction trips. She has a wonderful group of friends that do a lot of activities together, they are probably the most frequent movie goers, and love going to the pool when it's not too hot outside. She goes to participates in The Flour Sack Baking program and learns cooking skills with her friends. She is also in the inaugural Best Buddies Park Hill club. Thank you to our generous friends Katie was the highest fund raiser at their walk to kick off their club. Best Buddies is an amazing program that was started by The Shrivers to pair typical people with a disabled "buddy". We can't wait to get our chapter on its feet this school year!!! She has participated in many Special Olympic sports including bowling, swimming, soccer and bocce ball.
We don't have many updates from a health standpoint. Cognitively she is on about a 5 year old level, which is hard to deal with at times because we don't remember what a 5 year old is like!! She had a bout with a small cancer on her face which we were able to use a cream RX to get rid of, thankfully. She is on 14 medications as well as 6 supplements that work to control her OCD, ADHD, acne, mood stabilizers...etc... We have been having a lot of different behavioral issues as of late, something that has been hard on all of us. She has extreme mood swings, little to no rationalization or reasoning skills and is not afraid to throw a tantrum when she feels she isn't getting what she wants or can't communicate what she wants/needs. We have had several very bad public outbursts, which is something you can never really get used to, or prepare yourself for. The stares, judgements and rude comments have increased, as she still looks "normal" just young and people, obviously, don't understand. We, as a family, do our best to shrug them off, but on occasion they do get to us. With all that being said, we are hoping the behavioral science team at Children's Mercy along with her team at The NIH can come up with some solutions and skills to help us deal with this issue.
The last 5 years, unfortunately, have not brought any real answers or any more information on either of Katie's main disorders. It is still extremely rare so they are doing their best go off others fortunate to be in the study as well as studying Katie to bring some new information. She is continually being studied through hair samples, blood samples, skin or tissue samples and genetics. She is always more than willing to participate and loves giving blood. She sits proudly in the chair and puts the arm she wants to use that day right out for them. She has told me several times lately she does not want any more pills and please tell the Doctors to put her pills into shots (I know of no children who would rather get a shot than take medicine). A big problem we have as a family is the people honestly don't understand Katie and her complex disorders and diseases, which does both her and us a disservice. It is hard for us to try to explain Katie without going into some depth which usually leaves most people confused and feeling sorry for us. Because of this, normally, we choose not to share her story, which sometimes makes her out to look like an ill-behaved child. We are hoping and praying that in the next couple years awareness is brought to her disease and disorders and that new information surfaces so that we don't have problems as often. Since she turned 18 we petitioned and were granted Guardianship of Katie, which I am extremely grateful for. We have taken steps for Social Security as well as Medicaid of her as many more avenues open up for her once she is granted those. I have learned a great deal about the system and, thankfully, have made it through so far. (it does help that SSI recognizes her disorder as a "fast track" diagnosis so that makes that process a bit more bearable)
Katie and I will be leaving for The NIH on Sunday, July 24 and clinics will start on Monday, July 25. Paul is not able to go with us this year due to football season is quickly approaching and he will be at camp. Victoria will not join us this year either as she has to stay back to work and take care of Woody (our 200 # bull mastiff baby...she is excited :-)!! We will have four very full, very busy days of clinics that will leave us exhausted, and excited at the same time. We will be staying at The Children's Inn at NIH, which is a wonderful place for sick children to stay. They are absolutely amazing to the kids and their families. I will post nightly updates to keep everyone in the look and explain the days appointments and outings. Katie loves to check this page nightly while we are away so please feel free to leave her messages. Please keep both of us in your thoughts and prayers, we are hoping this is both a very positive and productive trip!!
NOVEMBER, 2011 ___________________________________________________________________________________________________________________________________ We are headed back to The NIH on Sunday, November 6, 2011. Katie will be seeing her awesome Team in The National Cancer Institute for numerous appointments over a 7 day period. We are very excited to see what the Dr.'s have learned over the past 2 and 1/2 years. Because her disorder is so rare we don't have unrealistic expectations, just hope for any little bit of knowledge they can give us. For those of you who have followed Katie's previous "medical mystery" most of the information will be old news until we get out there and I post new information and updates next week. As many of you know our family has run into numerous road blocks with Katie's diagnosis'. I know most everyone knows there is something wrong with Katie but no one ever elaborates on it. My older daughter, Victoria, said it perfectly the other day. Here is the story: I was speaking to Torie's counselor at St. Pius and Katie kept interrupting. The counselor looked at me and said, "wow, she is really high maintenance". Looking at the situation and not knowing the background, anyone would think that. At that point I opened up and explained to the counselor Katie's story. He felt really bad, but again, that is normal when you a see a child that "looks normal" but is not acting "normal". I came home to ask Torie, "how come you don't tell people about your sister??" Torie responded, "well, lets see, I'm going to go into a class and say hi my name is Torie I have a little sister who has major problems". Needless to say, it made me think. There is really no good time to just blurt it out. Human nature is for everyone to need to "see" the disability and if it is not visible then often the finger gets pointed at parents for not "controlling" the child or not disciplining. I can't tell you the looks we have received in public from people judging her behavior, because all outward appearances appear to be "normal". But...what is normal?????? I, too, am guilty of not putting ourselves out there enough. I am not one that has ever wanted anyone to ever feel sorry for my family. Nor am I one that has ever wanted to be looked at as using Katelin's disabilities as an excuse. That being said I have learned over the past couple years to open up and let people know what is going on. I know I did a huge disservice to Katie all those years of not opening up and letting people know she has major problems but we don't know what they are. Well, now we do!! Not that it's any easier because her disorders are very complex and extremely hard to explain.
Katie was born January 17, 1998 at 29.5 weeks. I had developed a pregnancy induced disease called HELLP Syndrome. It is a disease that attacks your liver and knocks your enzymes, platelets and entire system out of wack. If not found and treated immediately the liver capsule will rupture resulting in death of mother and baby. I was at North Kansas City Hospital at this point and was told they could not help me due to the phase I was already in. They decided to transport me by ambulance to Research Medical Center at 1130pm on 1/16/1998. The only thing we really understood about HELLP at that time was that it is extremely dangerous and the only treatment/cure was to deliver the baby. I had little to no platelets at this point so my blood couldn't clot so I got no epidural with her! She was born at 517am and seemed to be a beautiful, perfect and healthy 5 pound 11 ounce little girl... Until about 5pm that evening that is. It was at that point that the nurses realized she was not eating enough and decided to unswaddle her. When they did, it was apparent she was not getting enough oxygen throughout her body because she was purple from her toes to 3/4 way up her torso. They took her from me immediately and rushed her to the NICU which became her home for the first month of her life. She was the biggest baby in the NICU and they nick named her Hercules. If only we knew she would later be referred to as Bitty!! (because she is so tiny)
I have put her history and story as well as a brief explanation of her Disorders in the journal pages. If you have time please feel free to take a look at her amazing journey. Also, if you followed her first web-site, most of what is in the journal pages are from the original web-site. I will update with new entries as we make our way through all of our appointments at The NIH next week.
Thank you all for your continued support and prayers. I look forward to updating you throughout the week!!