Meet Kayla Marie. She is a beautiful, fun, feisty 10 year old with a very rare genetic disorder. Kayla has APS Type 1-Autoimmune Polyglandular Syndrome Type 1. What is that you may ask, well here goes......Kayla's body attacks itself, more so, her endocrine glands and organs, like kidneys, thyroid, parathyroid, lungs, adrenals, etc. There are only maybe 100 cases of APS1 in the United States. This disorder is progressive, and there is no cure. There is only testing, medication, prevention as much as possible, and maintenance once something shows up. Kayla is the 29th person being researched in the U.S.A. at the National Institute Of Health with this extremely rare condition, and the 6th with the Autoimmune lung involvement.
Kayla is a beautiful, amazing child with such a fire for life, and wants so badly to be just like every other normal kid out there, but unfortunately that is not possible. Her body is just too sensitive, and she is susceptible to every germ in the world. Kayla was diagnosed with APS1 in Decenber of 2009 during a 6 week hospital stay. Every year since we have been faced with new challenges, some years much more than others.
The main symptoms of her disorder are:
1) Primary Immune Deficiency-her body has a very weakened immune system-SHE RECEIVES IVIG(HUMAN IMMUNOGLOBULINS) EVERY 3 WEEKS TO KEEP HER IMMUNE SYSTEM BOOSTED AND HAVING THE ANTIBODIES IT NEEDS TO FIGHT OFF INFECTION
2) Selective Antibody Deficiency- she does not produce antibodies to many illnesses and diseases
3) Autoimmune Bronchitis/Autoimmune Pneumonitis-her body is attacking its own lungs which causes lung damage and pneumonia with bacteria that should never be in the lungs--SHE HAS BEEN ON 3 DIFFERENT IMMUNOSUPRESSION MEDICATIONS TO SUPRESS t CELL COUNT AT THIS POINT TO KEEP THE LUNG DISEASE FROM PROGRESSING. 2 HAVE STARTED WORKING THEN FAILED, WE ARE NOW ON THE 3RD, AS WELL AS HAVING DONE 2 ROUNDS OF A CHEMOTHERAPY DRUG TO SUPPRESS HER b CELL COUNT
4) Hypoparathyroidism--which means her body does not produce and absorb calcium properly. Calcium plays a key role in most parts of your body like your electrical function so when her calcium falls to low she starts to twitch, cramp up, seize, etc.
5) Autoimmune Hepatitis--her body has been producing antibodies to her own liver causing inflammation and scarring of her liver
6)Iron deficiency and Anemia-her body does not absorb certain elements properly and iron is one of them and she is now anemic secondary to that-SHE GETS IRON INFUSIONS EVERY 3 WEEKS AS MAINENANCE
7) Growth Hormone Deficiency-her body produces no growth hormone and she has been to the -5% on the growth charts. She is finally on GH replacement injections daily and is slowly increasing in size and weight.
8) Chronic Candidiasis- systemic yeast, from mouth, gut, lungs, etc.
9) Bronchiectasis and Asthma--a lung disease which causes chronic dilation of the bronchioles--leaving Kayla prone to recurrent pneumonia
10) Recurrent Pseudomnas Pneumonia-she has a chronic bacteria in her lungs that causes pneumonia
11 Alopecia Areata--she has thinning all over her head, had one major bald spot in back of head finally grown back in a year later.
12) Ectodermal Dystrophy and Enamel Hypoplasia-this affects her teeth and nails. Her teeth are very soft and weak secondary to this and the lack of calcium in her body. She also has only 2 normal fingernails left, and the rest are very disfigured.
AT THIS POINT IN TIME KAYLA'S FINGERNAILS HAVE GROWN BACK IN NORMALLY. THANK GOD!
Kayla spends one full day every 3 weeks getting her infusions and treatments at Joe DiMaggio Children's Hospital. In the long run there are numerous other illnesses and disease states that we have to watch and monitor for. Addisons Disease is another main symptom that Kayla as of now does not have, but that can change at any time. She could end up with ovarian failure, diabetes, blindness and so many other debilitating manifestations.
Kayla is on hospital homebound, and cannot go to a traditional school setting. With a weak immune system and lung disease, something as little as a cold could make her sick for months, and any sickness can cause more lung damage.
Our out of pocket expenses for her medical care range from $600-$1000 monthly, all of which I cannot afford. I am a single mother, unable to work much because I must stay home and take full time care of Kayla. I am her nurse, teacher, her Physical Therapist for lung therapy, as well as her mother. We have doctor appointments, lab work, scans, tests, acupuncture, and infusions to get to weekly. Also, make trips to the National Institute of Health in Bethesda, MD several times a year to keep up with the research. We have spent a month there in the hospital at one point while we started her chemo, as well as numerus hospitalizations at home, and in home nursing and treatments at times.
Please help me to continue to get what my child needs, we are finally receiving some help from the state and government, but not enough to survive or get her what she needs. Please help us in anyway that you can. Even if all you can do is say a prayer and share her story. I know in my heart by sharing this and getting the information out there we will get by and get what we need. I just have to kep fighting and pushing every day. So many days I feel like I cant push anymore, but you seem to muster up strenghth from where ever you can find it and keep pushing through.
I want my Kayla to be able to know what a happpy fun filled life is, not one of all pain, needles, and doctors, please help me provide this for her. Many blessigs to you all.
No child should have to live their lives chronically sick, please help me to give my baby the best life possible.
Here is the link to her Facebook Page is anyone would like to join, just copy and paste in browser.
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