Biographies! |
From the very
first of this project, we've wanted to post the personal histories of the
people we've met with this condition.
Work has begun on a survey form to trigger your impulse to let others know that there is someone who does know how they feel - YOU!
For anyone who can tell us about their family history, their own medical and life experiences or who just wants to post their picture here to be remembered by those of us who care, we welcome you to email us for posting. If you wish to remain anonymous while sharing some of your history with us; just indicate that along with the submission.
Suggestions for the format are accepted gratefully. The first draft of a survey form is shown below the entries we have received. If you want a copy of the file, email us and request a Survey Form (be sure to place this in the subject line.) The form was done in Word 6, but I will send it *rtf or plain text if you need it that way.
Please excuse us when you see "[Names suppressed]" or "[Names suppressed until permission is granted]" in the text of a personal story. These editing notes are an annoyance and break up the flow of very personal writings. However, we are more concerned that we might invade the privacy of someone. If you think that you or your child's name has been suppressed and you are comfortable with it being shown, please email us with permission to display it.
Last edit:pwb [partial]
8/3/2002
The first indication that something wasn't quite right with our Daughter came at age 8 months when she developed a nystagmus and it became apparent that she had a visual deficit. She was subsequently diagnosed with optic atrophy but the etiology was unclear at the time. It wasn't until 6 months later, when she suffered a fractured tibia from a little stumble that the x-rays revealed the true culprit as Osteopetrosis. Of course we were stunned and broken hearted to learn at the time that the early onset and the fairly pronounced optic atrophy indicated that our Daughter most likely had the recessive malignant form of this condition. We were pelted by words such as "blind", "deaf", "multiple fractures", "loss of bone marrow function" and "death within the first decade resulting from overwhelming infections".
We live in rural Alaska and had to travel to Seattle to receive the specialized attention that was necessary for this rare condition. A flurry of tests were performed to establish a baseline to monitor what we feared would be a rapidly progressive loss of function for our Daughter. We consulted with specialists from Heme/Onc, Genetics, Neurosurgery, Endocrinology, Ophthalmology, Craniofacial Surgery, Orthodontics, ENT and Radiology. Dr Keys was consulted and Sarah was started on the Calcitriol/Interferon regimen right away. We began the search for a Bone Marrow Transplant (BMT) Donor and although neither of our other two (unaffected) children were a match, several potential donors were found and 3 were subsequently worked up and ready to go.
After the initial three visits to Seattle (3 months apart) our early sense of urgency began to be replaced by a cautious optimism as it became apparent that Sarah's condition was not rapidly deteriorating. Our focus shifted away from the desperation of a BMT and toward dealing with what looked to be a more chronic situation. She continues to be followed by the physicians in Seattle at regular intervals. She is growing along the 5th percentile growth curve. Her blood counts have always been depressed, but in proportion and stable for her. She has needed multiple ear tubes placed (as did both of her unaffected siblings) but other than recurrent ear infections, has suffered fewer infections than most "healthy" kids. She has suffered a handful of "hairline" fractures to her lower legs and arms, but these have always healed well and timely. She has un-erupted and retained deciduous teeth, but compensates quite nicely.
Sarah's visual deficit is severe but not complete. She is much smarter than average and is learning to read and write Braille quite handily. She uses a white cane when in unfamiliar territory, but retains enough vision to navigate without it in familiar surroundings. Recently, we were encouraged by the Neurosurgeon and the Craniofacial Surgical Team to consider an unroofing procedure to relieve the compression of her optic nerves along the optic canals in hopes of saving what was left of her precious eyesight. The decision was a very difficult one for us. The surgery was not without risk, including the possibility of actually causing complete blindness or even death. However, without the surgery, even considering Sarah's slower-than-average progressive loss, blindness is a likely eventuality. We have concluded that there are worse fates than being blind and have decided to forgo the surgery. After carefully considering our explanation, Sarah has confirmed the correctness of this decision.
Sarah is 6 years old now. A casual observer would be hard pressed to notice that she has any deficit at all. In fact, she usually attracts attention with her gregarious nature and energetic personality rather than any indication that she suffers from what still may prove to be a terminal condition. She continues to humble and amaze her parents with her example of faith, determination and the power of a positive outlook in the face of adversity.
Sarah's Parents, Michael and Kathy Fitzgerald mnkfitz@ktn.net
July 3, 2000
My name is Whitney and I have just recently been diagnosed with intermediate osteopetrosis. i am 24 years old and am currently serving in the US ARMY. I grew up with a more-active-than-normal childhood, as I was a swimmer beginning at the age of 4. As I grew up, I had numerous joint pain issues, that the doctors dismissed as 'growing pains'. I was able to do whatever I wanted, however much I wanted. I never had any other signs of weak bones-I even fell appoximately 7 feet out of a tree and got up and walked away when I was 8. I have been in many situations where my bones should have broken and they didn't.
Now I find myself on the other end of the spectrum. During training, I developed numbness of my toes and shin splints. This is a very normal occurence for females in the ARMY. Your weight bearing load is greatly increased! After training, I continued having pain that I refused to get checked out. I cried every night to my husband that my legs hurt. i could not pinpoint the pain, but it felt like someone had hit my femurs with a metal baseball bat. I continue to have the same intensity of pain today. My doctor on post was reluctant for about a year to think that there was anything wrong with me other than typical femoral stress fractures. One year into everything, he decided to do a second bone scan, which showed that my stress fractures had changed, and had merely migrated to other areas of my bones. There were no signs on x-rays or bone scans that there was anything other than stress fractures. This prompted him to finally start checking for other things, which has brought me to this website. I just found out four days ago about my diagnosis.
My symptoms are actually very few. In fact the only symptoms that I have are immense pain from my hips down (24/7), and chronic stress fractures. I have not yet had a true fracture. My bones were 1.5x the normal density of someone my age (which oddly did not throw up any red flags for the doctors). It seems as if I could possibly have such a mild form that I might not have had any issues had I not joined the ARMY. 12 mile road marches with 80 pound ruck sacks can really take a toll on a healthy person, let alone someone with a precursor for this disease. None of my family members have been dianosed, however my mother has exhibited some symptoms throughout her life that would be worth looking into. My stress fractures do not heal, and the pain seems to be creeping up into my ribs now. The only pain relief that has worked so far is percocet and morphine. I am hoping now that I can find a doctor to lessen my dependence on these narcotics.
Just like everyone else's postings, I already knew more information about this disease than the doctor. Your site has already helped me by giving me names of doctors that can help me. I have contacted other people that live in my area for the names of their doctors. I am stationed at Fort Lewis, WA so I should be able to get treatment in Seattle. My main concern with this disease is that the ARMY will not authorize me to travel to get treatment, thus I will have to claim insurance at the end of the year which is a pain in itself through Tricare. I also want to make sure that i get the best care possible, and the ARMY does not always see it that way. They would rather treat my pain with narcotics that cost $5 rather than send me to other locations for specialists. If anyone knows of a doctor in the Seattle/Tacoma area, I would greatly appreciate an email.
whitney.s.miller@us.army.mil
Hi everyone. My name is Fernando from Madrid (Spain). First of all excuse me for my poor English, it's because I am not a native English speaker. So sometimes I have to use my dictionary.
I have had only two children, both of them with Osteopetrosis. They names are Isabel and Andrés. In my family there is no one else with the disease.
Isabel was born August 9, 1994 and died March 22, 1999 (4 and a half years old)
Andrés was born April 28, 1998 and died March 17, 1999 (10 Months Old). They died just by 5 days apart! They both died as a result of their BMT. Their deaths were caused by two different problems with osteopetrosis and the BMT. These problems are called 'Engraftment Failure' (Isabel) and 'Graft Versus Host Disease' (GVHD): at (level 4) the maximum life-threatening degree (Andrés). Andrés' transplant began in September 1998 and the Isabel's transplant in January 1999. It finished in fatality in both cases in March 1999. Andrés stayed in the hospital six months and Isabel two months.
With Isabel and Andrés, the number of blood cells has always been normal. The doctors were reluctant to make the transplant sooner, since a BMT with Osteopetrosis and no sibling donor had a success rate of only 30%, according to the physicians of the 'Niño Jesus' Hospital (Madrid). Because the blood cell counts were normal, their diagnosis was in doubt between a form of Osteosclerosis and the malignant infantile form of Osteopetrosis. They finally confirmed the diagnosis after she underwent Optic canal decompression surgery. She was three years old. The BMT was undertaken after four and a half years because my wife was pregnant and the doctors decided to wait for Andrés' birth so that the boy could donate the umbilical cord blood for Isabel's transplant. They were completely HLA-Matching but in the x-rays and analysis it was seen that the small boy had the same disease. Imagine the desperation for their mother and for me...
Isabel had many of the symptoms for this malignant form: Extremely increased skeletal density, Hydrocefalia with installation of a pressure valve into the skull (5 months old), Neck Pain (Skull base thickness), teeth growth lack, bone infection in a knee (2 years old) and optic nerves compression (3 years old).
In the malignant form of the Osteopetrosis bone marrow space is important. The marrow space is closing and there is a risk of engraftment failure with the BMT.
Andrés didn't have this problem because he was a baby but Isabel did. Andrés' transplant began first and he was the bone marrow donor to his sister with his new engrafted marrow.
At this point I'll stop writing about my story. I was so sad hearing about the latest news that [Name suppressed] reported us about [Name suppressed]. These shocked me very much and brought out vividly to my mind the latest days with my loved little son Andrés. They were so similar in age and with the same problems with the BMT as Sharon told us. As [Name suppressed], Andrés transplant worked, but he had GVHD several times. Also, Andrés had infections due to the immunologic suppressing drugs given to fight against GVHD attacks and Andrés was two times before at a brink to die.
Likewise they had a long time living in the hospital and he was quite moody so we had to swing his cradle. Also we gave his nutrition through a feeding tube that he was always was trying to pull out. Like [Name suppressed]'s Dad, I couldn't stay all the time with my son because I went to work every day, and in the afternoon and at night I visited Andrés for a while and then left to stay with Isabel because she was at the Intensive Care Unit in the hospital.
In the last days of their lives the doctors put both of them in the same room, so the entire family could be together. During these months, I hardly can see to my wife Teresa because each parent had to take care of one children in a different place, first Isabel at home and Andrés in the hospital and afterwards both in the hospital in different rooms.
I want to tell [Name suppressed]'s parents that I have prayed for them to overcome their pain and suffering. I really understand their feelings because these are the same as mine. They are not Alone!!!. I think our sons will be playing together in heaven.
I also want to give hugs to these little kids who are fighting against Osteopetrosis and/or these who yet cured are dealing with it's effects as blindness or developmental delay. So, a big hug to [Names suppressed until permission is granted]. Likewise I remember his parents and encourage them to continue doing so well as now. To end this letter I give regards and compliments to the adults ones who are suffering Osteopetrosis.
Fernando JoaquinCilleruelo Valls
My son was diagnosed with Osteopetrosis Malignant at his 6 month well baby check when they discovered his growth had fallen below the 5th percentile and they thought they found a mass in his abdomen, after ultrasound they found it to be an extremely large spleen. We were referred to the hem/onc. doctor in town who ordered bone studies, lab and bone marrow aspiration. She was very kind when she told us of Alex's condition. We were shocked due to the fact he looked so healthy. He had a continued stuffy nose and mucus. This was due to the narrow passage through his nares that the mucus could not travel freely. We immediately went through the process of being put on meds Calcitriol and Interferon gamma and twice weekly doctor visits. We started a search for bone marrow donor and had no luck we finally had to decide on an unrelated cord blood donor 5/6 match. We were hopeful that it would be OK since cord blood was suppose to make the GVHD less severe due to the immaturity of the stem cells. Alex was transplanted on his first birthday 1-13-99 and we then went through a long haul. He initially got skin GVHD that kept us in the hospital for a long time trying experimental drugs and high doses of prednisone and cyclosporin and various other drugs. On Easter Sunday he got GVHD of the gut and had a massive GI bleed. At the same time his platelets failed and got ITP (Idiopathic thrombocytopenia) which led to an eventual splenectomy the 15th of April. He then was doing OK but then contracted Liver GVHD this was just to much for the little one to take he passed away the 23rd of May when he was 16 months old.
I write to you because even though we lost our battle with this disease we were blessed with an angel for 16 months. Alex always smiled and played. He was very easy going and tolerant of all the doctors and the nurses. He loved to play and flirt with the nurses and won the hearts of all that met him. When we were going through this I did not know of this site, let alone others that had this disease. I had to educate all the staff and physicians about it. It is not well known and it was frustrating when I had questions they all said "we don't know" I wish I had contacted Keys myself. I know that the doctors did contact him in the beginning but I think he has a lot to offer. We have since talked with him and given our blood and Alex's blood for research in the hopes we can help others. This is a devastating disease I think in any form. I know the fear and anxiety I felt and the loss that I still feel. My most perfect wish is that no parents ever have to face what we have faced with our children. Children are supposed to be happy, healthy and loving, not faced with sickness. I am grateful to my family and friends for their support. I also find this site to be very helpful and appreciate the people that respond to my questions.
Sincerely,
Kris Eckert
"JL" is a 6 year old Canadian boy who loves trains, hiking and (watching) roller coasters! His Mum always wondered if his growth and development were proceeding normally as his peers at the Moms &Tots group all seemed to be growing faster. But Doctors and health nurses kept assuring her it was OK so when he was 2 yrs. old, she decided to believe them and quit worrying!
At "JL's" 3 year check-up, a new family physician noted that his height had fallen below the 5th percentile on the growth chart and suggested a consult with a paediatrician. An X-ray was taken. The family physician who read the report to us didn't know what "Osteopetrosis" was. The paediatrician who called later that day read us a paragraph about it from a medical text and said he would make some referrals.
We were thirsty for information so went online and learned about the different forms. Most of the information was on the recessive "malignant" form but we also read a bit about the dominant "benign" form. The paediatrician had made arrangements for us parents to get X-rays to determine if the diagnosis should be the dominant form. When they came back negative, we started fearing the worst. Meanwhile, J's younger brother, "K" was noted to be falling on the growth curve. Both boys had to undergo full skeletal surveys (X-rays from head to toe), lab work, and we were put on the fast track to see several specialists.
Over the next couple of months we learned that J & K had osteopetrosis with renal tubular acidosis. It is considered to be an "intermediate" form of the disorder. Their osteopetrosis symptoms have been relatively mild with only a few fractures, mild hearing loss and growth failure being the main manifestations. However, they also have acidosis caused by their kidneys being unable to filter acid from their blood and some learning disabilities are becoming evident, as they grow older.
We have also learned that the terms, benign and malignant can be very gray. In other words, many of us dealing with this disorder in its many forms are facing a future with many unknowns. We are very thankful that we are not dealing with the severe form but that also means that a CURE, through BMT is out of the question so we know that the disorder will continue to shape our lives for many years to come. It is difficult to watch your children cope with disability, pain and illness, knowing that there is likely more of the same in store for them in the future. It's a helpless feeling knowing there is little you or anyone can do to prevent it.
At least through sharing our story, perhaps others might be helped.
I am a 38 year old with the intermediate form of osteopetrosis. I have a 33-year-old brother who also has osteopetrosis. I was diagnosed at age 2. My current medical history includes frequent fractures, including nuisance fractures of the ribs and feet. I also have a 20-year history of chronic osteomyelitis of the mandible. My blood counts are abnormal, however, Dr. Key has advised me that it is not a concern as long as the low counts (generally hemoglobin of 7, white blood count of 2.5) are proportional.
I have been involved in the gamma-interferon study at the Medical University of South Carolina and, like others who may have met him, think the world of Dr. Lyndon Key. Through him, I take high doses of calcitriol to try to prevent the stress fractures that seem to plague many of us.
I am currently on home infusion therapy for antibiotics to treat the osteomyelitis. I have had this for 20 years and have slowly lost all of the teeth and gum tissue in the mandible. I have three open lesions on my face, but am hoping that this course of antibiotics will help with that. I have been advised on many occasions that removal of the mandible is the solution to this problem, but as I have no data on successful addition of prosthetic mandibles in people with osteopetrosis, I feel that it is an option that is only a last resort and I am definitely not there yet.
Among the difficulties in dealing with this disease that I feel I encounter is the absolute persistence of symptoms – as soon as I feel like I have my osteomyelitis under control, I tend to fracture something…then it won't heal, and then something else crops up. The other problem that I have that I know everyone else encounters is that I have to educate most doctors about osteopetrosis because chances are excellent that they will never have heard of it.
On a more positive note, I am still able to work part time as an occupational therapist in the local school systems. I have a 5-year-old adopted daughter who is the light of my life and who helps me push to go on even when I don't feel like it. I also have a wonderfully supportive husband who put up this website with the help of my brother-in-law. And last, I have a mother and father who will, at the drop of a hat, jump in the car to drive 500 miles to see me when they find out that I have to have my PIC line reinserted in the hospital. They encourage me to continue with my life no matter what the osteopetrosis is doing.
Sincerely,
Elspeth Sawyer
Our purpose is to demonstrate that although you are unique, you are NOT alone. Your condition is rare, but shared by others. More important than the genetic condition and its numerous effects and symptoms, is your life and its joy as well as its sorrows.
Each event, each birthday is often a triumph of the will to live a full life. Send us your picture, we'll find a way to put it on the site. Share with us the people and things that have made the road easier, perhaps things to avoid.
There are many forms of this condition, more is being learned all the time. Please tell us what you know about your condition.
1. Name
(use pseudonym or alias if desired but indicate below)
Is this your real name?
2. How old are you now? (Birth date, may we ask?)
3. Address? Street or PO Box/City/State/Zip
4. Telephone? Daytime/Evenings
5. Fax?
6. Highest/Current
School Level Achieved
grade 1 2 3 4 5 6 7 8 [graduate]
high 9 10 11 12 [graduate]
tech-vocational 1 2 3 4 [graduate]
college: 1 2 3 4 [bachelor's] [master's] [PhD]
Concentration/Specialty _________________
7. Fill-In
____________________________________________
____________________________________________
____________________________________________
____________________________________________
____________________________________________
1. Have you been diagnosed with a specific form? Yes/No
2. When was a diagnosis first sought?
3. When were you first diagnosed?
4. If you have been diagnosed, what type have you been diagnosed with?
Autosomal Dominant Type I
Autosomal Dominant Type II (commonly called Osteopetrosis tarda)
Autosomal Recessive - Lethal
Autosomal Recessive - Malignant (Osteopetrosis precocious)
Autosomal Recessive - “Mild”
Other - Type it in __________________________
1. What
symptoms are the most important for you?
Pain, infections, which bones?
2. What
concerns do you have regarding repetitive procedures?
X-rays? (Estimate how many to date.)
difficulty starting intravenous catherization? (Which types have you had?)
Long-term antibiotic treatment? (same medication)
Lack of available antibiotic alternatives? (too many have been used already)
3. What
special treatments have you undergone?
Amputation or removal of significant bone mass?
Radical surgery? (name and describe)
bone marrow transplant (BMT)
hyper baric oxygen
drug research studies (name the drug(s) and describe the protocol)
bone biopsy
4. Fill-In
____________________________________________
____________________________________________
____________________________________________
____________________________________________
____________________________________________
Please list the (genetically linked) members of your family
that have been diagnosed with osteopetrosis with their approximate age or birth
date.
Children:____________________________________________
Siblings:____________________________________________
Parents:____________________________________________
Cousins:____________________________________________
Parents Siblings:____________________________________________
Parents Aunt's, Uncles:____________________________________________
Grandparents:____________________________________________
Great Grandparents:____________________________________________
This material is being requested for voluntary submission for the benefit of others like yourself (or your loved one) who have this condition in any of its forms. This area is intended as a public forum, but no specific guarantees are made as to what will or will not be posted. No attempt to verify the information will be made. The author of this site assumes no editorial responsibility. Any questionable postings may be withheld until concerns are resolved. In the event that material is deemed illegal in any way, the sole remedy will be the removal of the material. If the site is challenged in court, the site will be disbanded.
None of this information (or your identity) will be disclosed to any individual or organization without your express written consent. We require that some means to contact you be given (address, telephone or preferably email) before we post the material so that we may correct any errors or contact in the event of unforeseen circumstances.
Despite our obvious genius, things here sometimes don't work. We really appreciate your input, since often that is the only way to correct obvious mistakes.
Currently, many of the original pages are not complete. Bear with us, or goad us into doing this thing until 3 am until it is good - of course, your aid and support are more appreciated.
If you wish to help, email us and let us know what you think you do best or would most enjoy doing. If you are willing to take on whatever we need most - bless you. Personal submissions, article citations (in our format) with reviews and contacts to experts in the field are our biggest needs.
Note: we DO NOT take financial assistance of any kind at this time. This is
an unofficial support group site, not a charity. We have no special tax status
[That means we pay taxes on the money we spend to do this.]
email your personal history and suggestions to:
Personal story
(Please include "personal story","I'll Help" or
"suggestion" in the subject line. Thanks.)
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