Discussions By Condition: I cannot get a diagnosis.

We need help finding a diagnosis for our 3 mos old. PLEASE read!!!!

Posted In: I cannot get a diagnosis. 24 Replies
  • Posted By: CamiAndCalliesMommy
  • September 4, 2008
  • 07:17 PM

Our 3 month old daughter ended up in the hospital on labor day after a very uneventful and relaxing day. My husband, sister, mother-in-law, brother-in-law, sister-in-law, grandparents-in-laws , 6 mos old nephew, and our youngest daughter all gathered together for a family weekend up in North Florida (about 8 hours from where my husband, myself, and our 2 little girls live). Our oldest daughter stayed home with with other family members for her Labor Day holiday. On Monday, the above listed family was together. We mostly relaxed on the back porch and enjoyed the holiday. Callie (our 3 month old) would go from myself to grandma to great grandma, or in to her swing. She was ALWAYS with more than one person at a time.

At about 4 or 5pm, my mother-in-law while holding Callie realizes all of her limbs are moving but one. She is not crying and is actually cooing. So, we lift up her right arm to see if there is a bite on it or if she is simply not using it at the moment. As soon as my mother-in-law lifts up her arm, Callie lets our a HORRENDOUS cry. We couldn't figure out why she was so upset. We touched it again, and the same thing. Due to her lack of moving it and the evident annoyance to her when touched, we decided to take her to the hospital. At this point, we are very worried a spider may have bit her. Any normal day I would have called my pediatrician (but again I was 8 hours away in a city with a population of maybe 1,000). We load up in the car (my husband, mother-in-law, sister, myself and Callie) and drive 45 minutes to get to a hospital. This hospital is the smallest hospital I have ever been to, but the best within a few hours radius.

We get there and the doctor's examine Callie. They do a urine test, general check up, and some x-rays. After about 2 hours waiting the nurses, DCF, and the police come in. They inform us Callie has a freshly broken bone in her right upper arm. We were floored. Callie had not had ANY incident to incur a broken bone. There was no bruising or marking on the exterior of the skin. She had also never been out of my sight for 24 hours and had never been left alone with any one person due to how many people were visiting for the holiday. I begin to cry in shock of my little girls arm, and just wanting it to be my arm not hers. The nurse then lays another wammy on me. She has 2 other old healing fractures that are about a month old. They then ask my husband and I how these all occurred. We have no clue. She has never been dropped, injured, hit, left alone, left with someone other than myself, her father, or her grandparents ever. There is no history of violence from anyone in our family. So we know SOMETHING is not right here.

After about an hour of what seemed to be a criminal interrogation, the actual doctor came in and said there is a strong chance there is severe and rare medical condition. He said there are many possibilities that will need to be screened for, and that in all the cases he has seen these conditions it has always started the same way with unknown cause of broken bones at a very young age and DCF involved.He said anemia, bone disease, and leukemia are all possible causes of this. HOWEVER, there are over 400 types of anemia, hundreds of bone conditions, and multiple other possible diagnosis (i.e. many many tests she will have to go through).

Right now, our daughter is 8 hours away and can not leave where she is located. My mother-in-law is temporarily caring for her, as DCF said until diagnosis is received it was advised I let grandma temporarily babysit her. Our other daughter has never had a broken bone in her life, or any injury. We are floored by this situation and terrified for our daughter. My family has a history of anemia, circulatory, and bone diseases. His family only has diabetes for medical history.

The doctor said this could take months and months of testing to determine the cause. He strongly believes this is a severe and rare medical condition and has advised DCF of this. However, Florida law mandates their investigation (which I do understand and respect as our daughter is only 3 months old ).

Symptoms:

Previous anemia when I was pregnant (hemoglobin of 7) and was informed strong chance child would have some form for first few months

Callie bruises VERY easily (even just from her own hand bumping her face)

Callie's feet sometimes swell 2 to 3 times normal size with no explanation of why

Callie has a very wheezy/raspy heavy breath on and off throughout a normal day - this has never caused a rapid breathing

Callie has had oral thrush

She was born at almost 43 weeks vaginally...she weight 10lbs 1.3oz and was 22.5 inches.

Family history of some forms of anemia

Family history of weak/brittle bones

Has a hard time keeping down formula/breastmilk...had to be placed on special formula for this and still has trouble keeping it down.


Please, if you have any ideas of what this may be let me know. If I can have the doctors test for something sooner than later that would be best. That way she won't be subjected to too many tests and can come home asap. I am very nervous, has her medical team is no where near what I would consider is up to par.

http://a219.ac-images.myspacecdn.com/images01/24/l_3666926257b3b370125488a95fdbf09a.jpg

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24 Replies:

  • Keep checking back, as most people give up on this site after a few hours or a day, before people have had a chance to reply. To truly have broken a bone out of nowwhere (and i believe she did, as otherwise you wouldn't be looking for an explanation) my first guess would be osteo genesis imperfecta, which i would assume most teams would find, even if they aren't the "best" doctors. If it is not this condition, it could take days to find the answer, or it could take quite a bit longer, because it is a process of elimination, the first test they run could be possitive, or the hundredth. I will do some research on the other symptoms you mentioned, and see what conditions fit all or most of the symptoms.
    qwertyuiop123 453 Replies
    • September 5, 2008
    • 00:55 AM
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  • Thank you for your support. I am doing some online research about that disease, and I am going to compile a list of questions to ask Callie's real pediatrician and also to ask the medical team in north florida where she is temporarily. I just hope this process goes fast. She is at such a young and critical age, and being with her immediate family I think is crucial. I know this is silly sounding, but I am worried once this is all over she won't remember who I am since she is so young. The original ER doctor said her tests can be done as fast as a week and we will get the results equally fast. Her bone doctor said that the tests can take months and months and that he can't do them. LOL, what kind of bone doctor can't do a bone test. Ironic. All I can try and do now is see humor in the annoyances, or else I just start crying. I am hoping if my mother-in-law, husband, and I keep hounding the doctors and DCF they will get the point to take this seriously. The doctors who are not hired by DCF that Callie has seen have taken this very seriously, however the ones that DCF hire seem to mock myself or mother-in-law when we go. Hopefuly, when Callie is grown this will be a story we can all talk about and laugh at together. I just have to keep thinking about how she will soon be back to us and hopefully with a promising diagnosis.
    CamiAndCalliesMommy 5 Replies
    • September 5, 2008
    • 01:28 AM
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  • Wow, I am sorry for all you are going through and hope you get answers soon. I don't know about this, but you may want to talk with a lawyer if you haven't already - they may be able to put pressure on the docs if you feel they are not taking this seriously or working quickly enough. This sounds very serious and I would put as much pressure on them to keep looking for answers and don't let the docs take this lightly. As far as anemia goes, make sure they also test her B12 levels. And vitamin D - this is becoming increasingly deficient in little ones lately. Best wishesDOM
    acuann 3080 Replies
    • September 5, 2008
    • 02:39 AM
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  • As for her not remembering you your mother in law could show her your picture and hold the phone up so she is able to hear you talk, and will therefore still recognize your face and voice. I will continue to research other child abuse mimicking diseases. There is also a chance it could be marfan or ehlers danlos, because of the easy bruising, but neither fits all of her symptoms, and it is unlikely she has two seperate conditions, she probably just has one rare condition i haven't found yet.
    qwertyuiop123 453 Replies
    • September 5, 2008
    • 02:46 AM
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  • Osteogenesis imperfecta seems like a very reasonable diagnosis (perhaps type III). Is there a medical facility associated with a university in the area? Sometimes they are prone to be up on these types of things more so than small towns. I would try to get her to a specialist as soon as possible to begin the testing. You and your husband will likely have to undergo genetic testing as well. Best of luck to you and your little princess.
    Anonymous 42789 Replies
    • September 5, 2008
    • 02:47 AM
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  • a tell tale sign of osteogenesis imperfecta is blue sclerae (the whites of the eyes) Do you have a closeup photo of her face. Not all people with oi have blue sclerae, but most people with blue sclerae have oi, if that makes sense.
    qwertyuiop123 453 Replies
    • September 5, 2008
    • 02:51 AM
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  • There are several genetic conditions that can cause broken bones in babies. You need the expert advice of a geneticist.
    aquila 1263 Replies
    • September 5, 2008
    • 04:09 PM
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  • Ok, I am going to try to answer all questions in one reply. LOL, lets see how well I can do. acuann - I have never even thought of doing a B12 or Vitamin D test. I guess I should have thought of that. Do you know if that is a blood test, urine test, or something else? I do have an attorney on retainer already. She mainly practices family law, but is registered with the Florida Bar as general practice. I wonder if she would be able to handle something like this. Unregistered7 - Osteogenesis Imperfecta keeps popping up. Is that only hereditary? For example, would I have to have it or my husband or our parents? Or is that something that can lay dormant as a gene for generations and then pop up? Or is it just a fluke thing that happens in the womb or something? I keep trying to find information on the web about this, just not getting that much detailed information on the sites I keep finding. There is really no large hospital/university for hours from where she is now. I am wanting her to be able to come home to us, as we have a plethora of medical facilities that are top in the state...and some top in the country. qwertyuiop123 - I am not sure what blue sclerae is. I have put a picture on here of her face for you. Her eyes change colors from blue to green to hazel. It can sometimes be hard to tell what color her eyes are because the whites seem to have a tint of gray/blue. It is very minor though. Sometimes I can't even notice the gray/blue and other times it is fairly obvious. I am guessing that will change as she gets older; I know newborns eyes seem to change. My older daughters eyes did not change. They are crystal blue since she was born. I however don't recall if her whites were pure white since she was born, they are now though. I have blue eyes and my husband has hazel eyes. I am also not sure what ehlers danlos is, I will put that along with all the other ideas I am getting on here on my growing list of questions for Callie's pediatrician.Callie with Daddyhttp://i488.photobucket.com/albums/rr248/CamiAndCalliesMommy/Picture027.jpgCallie for sale!! (Actually never for sale, but cute picture!)http://i488.photobucket.com/albums/rr248/CamiAndCalliesMommy/Picture052.jpgI have scheduled an appointment on Monday with her actual pediatrician. Even though she is where we are located (8 hours from Callie), I am hoping she can shed some light and provide some answers. Also, I am hoping she can motivate the doctors and DCF in North Florida to take this seriously.Again everyone, thank you for taking time out to try to help us. Callie is one of our two precious princesses that we love and miss very much.I have put a picture below of our older daughter, Cami, just so she isn't excluded. LOL.Cami trying to fight sleep. She is obviously not sleepy at all.http://i488.photobucket.com/albums/rr248/CamiAndCalliesMommy/Picture002.jpg
    CamiAndCalliesMommy 5 Replies
    • September 5, 2008
    • 04:34 PM
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  • Children with severe anemia may have the following additional signs and symptoms: Shortness of breathRapid heart rateSwollen hands and feetWhere were the first two broken bones, the month old ones Does she have loose stretchy skin? Has she ever had any sort of dislocation?
    qwertyuiop123 453 Replies
    • September 5, 2008
    • 04:37 PM
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  • What is your ethnicity? (some disorders are more common in some ethnicities)
    qwertyuiop123 453 Replies
    • September 5, 2008
    • 04:43 PM
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  • aquila - I will look into contact a geneticist when I speak with Dr. Sawka (the pediatrican) on Monday. Maybe she will be able to refer me to one. qwertyuiop123 - Both my husband and I are Caucasian with some Native American in us. I believe I have more Native American than he does (about 50% and I think he has about 25%). I found this on www.oif.org it is symptoms of OI. Obviously some are hard to tell as she is only 3 months old. She does have the easy brusing, fragile skin (though she is a baby so that may be more age related), breathing problems (never diagnosed with asthma and she can breathe without problem it is just weezy/raspy/heavy sounding often...never rapid pace), I am very short in stature (5'1) so I assume she will also be, I also have minor curvature of the spine (Scoliosis) so she may. I don't know anyone with hearing loss in our family that is not a senior citizen. Short statureWeak tissues, fragile skin, muscle weakness, and loose jointsBleeding, easy bruising, frequent nosebleeds and in a small number of people heavy bleeding from injuriesHearing loss may begin in childhood and affects approximately 50% of adultsBreathing problems, higher incidence of asthma plus risk for other lung problemsCurvature of the spineI looked up the blue sclerae, and she may have that too. I am not a doctor so I don't want to say she does. However, the white of her eyes are not a true white. I don't know if that is an age thing or something more. Her first two broken bones were in her left arm. Her ulna and tibia. Loose strechy skin? I wouldn't say it has ever stuck out to me that her skin is abnormal in that sense. I would say she is chubby and her skin is jiggly as is her fat, but her skin does not at all have a "falling off" look to it. To my knowledge she has had no dislocations. Then again, I didn't even know she had two breaks in her other arm. She is such a calm and happy baby. She also seems to handle pain beyond any level I could. If my arm was broken you would know about it until it was fully healed. LOL. I think the only reason she even got upset about her right arm was the actual location of the break. It prevented any movement of her arm. Her other arms break was in the lower part, and she still had movement I assume (as she never fussed about it, and I do not recall any time where she was not using her left arm). When we went to the doctor on wednesday to reset her arm, she never fussed or anything. I would have been screaming and crying from it. I know when I was pregnant some standard genetic testing was done. I am a CF carrier I was told, but nothing for OI came back. Is that something that would show up in a standard prenatal genetic screening?More pictures of my angelsCallie in my armshttp://i488.photobucket.com/albums/rr248/CamiAndCalliesMommy/Picture054.jpgCami on the way to the OB/GYN with me when I was 41 weeks along (yes I got to about 43 weeks)http://i488.photobucket.com/albums/rr248/CamiAndCalliesMommy/Pic0068.jpg
    CamiAndCalliesMommy 5 Replies
    • September 5, 2008
    • 05:18 PM
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  • Osteogenesis is also called "brittle bones" What is osteogenesis imperfecta?Osteogenesis imperfecta (OI) is the most common disease causing fractures in childhood. It also causes fractures in adults. OI is a genetic disorder usually resulting from abnormalities of the genes that control the production of a protein called collagen; which is the main protein in bone and essential for its strength. The fragility of bone in OI is due to the collagen problems; it has nothing to do with the calcium part of bone, which is what shows up on X-rays. How common are fractures?Some OI children are born with fractures that have taken place in the womb. Others have their first fractures soon after birth or several years later. Some people with OI have so few fractures in childhood that the correct diagnosis is not made. Fractures are difficult to predict, especially in childhood. Some occur with normal handling. Some occur with so little trauma that the usual signs of a fracture may not be seen and the fracture is not identified till some weeks or months later when an X-ray is done for another reason. The bones do not always behave in a brittle way; fractures may fail to occur when expected from an injury. The reason for these variations is quite unknown. In both sexes and in almost all types of OI the fracture rate diminishes during the teenage years and remains low in adult life. The reason for this is not known. What other clinical problems can occur?Besides fractures there may be problems in other parts of the body; most of these are, like the fractures, the result of the defects of collagen. The joints may be lax. The whites of the eyes may be blue or grey. The teeth may be discoloured and fragile. There may be an increased liability to bruising (thought to be due to the defective collagen in small blood vessels). Deafness may occur (see below). Hernias are more common in people with OI. Excessive sweating or intolerance of heat are common complaints; the cause of this is not known. Is OI inherited?OI in an individual is present from the time of conception. In some people, mostly those with milder OI, the disorder passes from one generation to another. In some of these people, and in most with severe OI, it arises without any family history. In most, but not all, of these the cause is a 'new genetic mutation' - in other words the responsible change in the person's genes arises anew, and not because it has been passed on from a parent. It is important to obtain advice from a specialist in gene problems (clinical geneticist) who may be able to identify the pattern of inheritance and advise on the risk to further children or the risk of passing on the condition. How is OI diagnosed?In most people the diagnosis is made from the pattern of fractures and the finding of any of the associated clinical features such as blue or grey whites of the eyes. However, it is important to recognise that none of these signs may be present and that the diagnosis may be very difficult. In severely affected people X-rays may show characteristic abnormalities - the result of previous fractures. In many people with only mild or moderate OI the X-rays may appear normal at the time of the first few fractures. Later, in bones that have been the site of previous fractures, the bones may appear demineralised (less white on X-ray) and reduced radiation may be needed to obtain satisfactory films for the diagnosis of fractures. In about half of people with mild OI a useful sign is seen in the skull where there may be additional small bones in the sutures known as wormian bones. Bone density measurements are usually unhelpful for the diagnosis of OI. They frequently give normal results in bones that have not previously been fractured. In the USA two specialised tests are sometimes used for the diagnosis of OI. One involves taking a small piece of skin, culturing the cells and chemically examining the collagen produced. The other uses a blood sample and searches for mutations of the genes coding for the collagen of bone. Both tests are labour-intensive and neither test is more than 85 per cent accurate in identifying cases of OI. What treatment can be given?The mainstay of treatment is competent orthopaedic care at the time of fractures, to ensure that each fracture heals in a good position. Patients should be mobilised as early as possible to minimise the loss of bone due to immobilisation. In some circumstances 'rodding' operations, in which fixed or telescopic metal rods are inserted into the shafts of bones, are very helpful, particularly in children with very frequent fractures or appreciable deformity. Help in the form of competent occupational therapy may be invaluable in ensuring that parents are given good advice in handling of a young child, in prescribing the most appropriate seating or wheelchairs, in advising on adaptations to the home and on practical ways of ensuring a good education. There is no drug treatment for OI itself. Trials of growth hormone have been disappointing. Trials of various bisphosphonate drugs are in progress and have given encouraging results in some patients with the more severe types of OI. I hope this helps you some. My friends infant was 6 mo old when this happended to her and they called dfacs on them as well until a young dr found this!! So maybe this could be your baby's problem too??
    gagirl 1 Replies
    • September 6, 2008
    • 02:28 PM
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  • Vitamin b12 shouldn't cause such wide spread problems, though rickets is possible, but i'm sure the doctors have ruled vitamin problems out by now, or at least i hope they would have...my guess would be that oi should have showed up in the genetic testing, unless it was spontaneous, which is kind of weird because i would think your height and scoliosis would have something to do with her diagnosis, because of something called anticipation, basically meaning that a genetic condition worsens with each affected generation.However, it is completely possible that she does have oi, here is a link to a site about the genetics of oi. http://psychology.wikia.com/wiki/Genetic_counseling:_Osteogenesis_Imperfecta_%28OI%29 Is there any reason for your short stature, in other words is their a medical reason or are your parents or grandparents also short? DO you know if Callie is growing at a normal rate, or what percentile she is in? Or if youo have a length measurement and can tell me what age she was in months (if she was measured when she was a month old and you can give me that measurement or something like that) i can calculate what percentile she is... I don't know if you've answered this before or not, have you ever broken any bones? Also, if she has oi, the swelling in her feet wouldn't make sense unless she had broken her feet, as far as you know she's only broken bones in her arms, right? Also, is your skin or your husband's skin stretchy or have either of you had any dislocations?
    qwertyuiop123 453 Replies
    • September 6, 2008
    • 10:32 PM
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  • Her sclera look sort of blue to me, but that's not as helpful as i thought it would be, apparently theres a lot more than oi that causes blue sclera Sclera - BLUE SCLERA Lecture 1 of 7 NEXT»Blue sclera is characterized by localized or generalized blue coloration of sclera because of thinness and loss of water content, which allow underlying dark choroid to be seen.1. Associated with high urine excretionA. Folling syndrome (phenylketonuria)B. Hypophosphatasia (phosphoethanolaminuria)C. Lowe syndrome (oculocerebrorenal syndrome; chondroitin-4-sulfate-uria)2. Associated with skeletal disordersA. Brachmann-de Lange syndromeB. Brittle cornea syndrome (blue sclera syndrome)-recessiveC. Crouzon disease (craniofacial dysostosis)D. Hallermann-Streiff syndrome (dyscephalia mandibulooculofacial syndrome)*E. Marfan syndrome (dystrophia mesodermalis congenita)F. Marshall-Smith syndromeG. McCune-Albright syndrome (fibrosus dysplasia)H. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)I. Osteogenesis imperfecta (van der Hoeve syndrome)J. Paget syndrome (osteitis deformans)K. Pierre Robin syndrome (micrognathia-glossoptosis syndrome)L. Robert syndromeM. Silver-Russell syndromeN. Werner syndrome (progeria of adults)3. Chromosome disordersA. Trisomy syndromeB. Turner syndrome4. Ocular*A. Congenital glaucomaB. Myopia*C. Repeated surgeriesD. Scleromalacia (perforans)*E. StaphylomaF. Trauma5. MiscellaneousA. Ehlers-Danlos syndrome (fibrodysplasia elastica generalisata)B. Goltz syndrome (focal dermal hypoplasia syndrome)C. Incontinentia pigmenti (Bloch-Sulzberger syndrome)D. Lax ligament syndromeE. Minocycline-inducedF. Oculodermal melanocytosis (nevus of Ota)G. Pseudoxanthoma elasticum (Grönblad-Strandberg syndrome)H. Relapsing polychondritis
    qwertyuiop123 453 Replies
    • September 6, 2008
    • 10:50 PM
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  • Are Callie's hands and feet usually cold? Has anyone in the family been diagnosed with raynaud's. It is a very common vascular disease, about one in every five women has it to some degree, here's a link. This website doesn't have a very good picture, thats not really what it looks like, thats only what a real bad attacks like, otherwise it makes the skin "look scaly" as my younger sister called it lol. http://www.humanillnesses.com/original/Pre-Sei/Raynaud-s-Disease.html Has anyone ever found a cause of the nosebleeds, or has anyone ever been diagnosed with an arteriovenous malformation?
    qwertyuiop123 453 Replies
    • September 6, 2008
    • 11:03 PM
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  • Sadly enough, the doctors have done NO testing yet. NOT ONE! The hospital said they didn't have the capacity to do any tests, the follow up physcian said he didn't know anything about bones, and the orthopedic clinic doctor said that he didn't do testing like that. It is very overwhelming and I feel like I am going in circles.I can't imagine a vitamin deficiency would cause so many problems. My mom is short and so is my grandmother, but then again they both have "weak" bones. I am not sure if this is age based, diet based, or genetics. It is hard to get accurate family history, as I seem to get different stories from everyone.Cami is in the 80th-90th percentile for her height/weight/head circum. Cami, my other daughter is in the 70th-80th percentile for all of the above. That can all change as a person grows, I use to be in the 90th and now I feel like a midget. I did some more research on the OI and it said people with oi can have tissue problems. Could this result in the tissues retaining too much fluid and therefore swelling? Correct, as far as I know she has only broken her arms. Also, when I said tibia I meant radius. Sorry. I get those confused. My husband dislocated his wrist and broke it. Something called a permanent boxers fracture. That was a few years ago, he got it while on a job site. I got in a car accident when I was pregnant with Cami (the older of the two girls), and I injured my hip joint by a very small fracture. Then obviously the first time I went into labor my pelvis had natural small fractures. That is common for labor though. (hurts like ***l though and worth every moment, lol)Neither of us have strechy skin. I have the standard post pregnancy belly with some stretch marks and less taut skin. Nothing abnormal. He has some skin tone colored strech marks on his back-though he is no where near heavy (5'10 about 145). His skin is not strechy though. I don't know if I can even visualize what strechy skin would be.Yes, Callie does often have cold feet and hands. She also overheats VERY easily. She will sweat indoors when it is 76 or below. She often has a clamy feel to her. Nosebleeds? No nosebleeds to my knowledge. Hmm, I know her toes are sometimes a lighter color than her feet. I don't know if it is abnormal though. It is so hard right now to tell what is just a baby issue, what is a medical issue, and what I am reading to far into. If she was here with me, I could just look at her/observe her.Things that I am not even realizing could have been symptoms seem to be possible symptoms. Thanks for your help, it makes me feel a lot better every day to log on here and see someone else striving for answers for my little girl.
    CamiAndCalliesMommy 5 Replies
    • September 6, 2008
    • 11:39 PM
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  • Sadly enough, the doctors have done NO testing yet. NOT ONE! The hospital said they didn't have the capacity to do any tests, the follow up physcian said he didn't know anything about bones, and the orthopedic clinic doctor said that he didn't do testing like that. It is very overwhelming and I feel like I am going in circles. I too wonder if your little one has OI .. I used to work for someone who had that condition, (her's was a genetic form but i think i remember her telling me it isnt always genetic?). The whites of the eyes arent always obviously blue.. sometimes they turn bluish just before one gets a break. Is there are OI support group somewhere in your country you can contact and ask them for support?? Tell them what's occured and that no tests are being done by doctors etc etc........................ Also hospitals are often very slack unless one keeps on their back. If that hospital will not help your child regarding various tests.. you need to take the child to other doctors and a hopsital which CAN HELP. Have you contacted your own normal family doctor to see if he's willing to help with things eg get some tests done and send her to right specialists for more testing if needed??? Maybe have her transfered to the local hospital so she can be closer to you (if they wont allow her to be at home)... (they dont like keeping children in hospitals for long and may get a move on with doing those tests). Get your lawyer involved too if you have too!! It isnt right or fair that you are being kept away from your child.................... I truely sympathize with what you are going throu as I myself back when my child (she's now 17 yrs) was a baby.. had hospital ring police etc who wanted to investigate us at hospital, (i was thou far too distressed as they didnt know if she was going to die at the time so the police went away and were going to speak to us (interrogate) us later).... (the ambulance officers had treated us like we'd abused our baby :( .. it didnt help that she was in plaster too at the time as she had a club foot which was being corrected). They then tried to keep me away from my baby... and later (she was in hospital for a week).. had us all under secret observation (camera in hospital room). My daughter at 6 weeks old had had a major haemorrage from her nose and this stopped her breathing..she had to be resusitated.. she's extremely lucky to be alive. Doctors couldnt work out what went wrong as they said a baby couldnt loose that much blood in a nose bleed (and as her nostrils were so tiny..they never checked her inner nose area out)... they also at first didnt believe us on how much she'd bled (she sprayed the car with blood which the doctors never would leave the hospital to go and see). I kept on telling them that the blood had stopped her breathing, she drowned in her blood (she was on her back at the time)....but wasnt believed. Only last year, 16 yrs after she died for that short time due to incident when 6 weeks old... a doctor looked up her nose only to find out that she has no skin covering in her inner nose and her blood vessels are basically all exposed (a birth defect), she's at risk of a very bad bleed. (they are now thinking of skin graft). If she'd died in that incident at 6 weeks old.. i believe I would of been blamed. (i wonder how many mums are in jail for murder who just didnt do it)
    taniaaust1 2267 Replies
    • September 8, 2008
    • 04:10 AM
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  • Updates:I went to my daughters' pediatrician on Monday to discuss everything with her. I was unaware that prior to me getting there, she had already been contacted by the Orthopedic in Marianna. Based on that call, she had then herself contacted the hospital in Marianna, the GP in Marianna, and CPS/DCF. Her pediatrician did say that she believes this to be a case of OI. However, she would like Callie to see a geneticist to determine that. Specifically, a pediatric geneticist who has prior experience with this. She was concerned about the lack of qualified medical staff in the area Callie is in, and contacted CPS to find out about transferring her down here.HOWEVER, Callie went to go see a "bone specialist" on Wednesday. I do not know the doctors name, office name, or official specialty. I just know he is a bone specialist. Not sure if he is an Orthopedic or Orthopedic Surgeon. In either case, I have been informed he is the specialist for this. My mother-in-law said he was rather rude to her, but that he did say in his opinion the bone could not have broken the way it did due to O.I. He said that it would take great force to injure a child that way, and who ever did it would had to have known. He did say he was going to recommend her to a specialist for testing. I am hoping a geneticist. I KNOW no one injured Callie, so the fact he would rudely jump to this prior to any testing is upsetting. The specialist did say the bone is NOT healing properly. They had to reposition and recast it AGAIN. They put her in a harder cast this time. He was also saying that she should have gone to see a specialist much sooner...as I have been saying for some time now. Due to him saying he doesn't think it could be OI (he is saying this because the direction the break is angeled at he says it looked like someone snapped her arm in another direction on purpose) people in the family have of course began to speculate on who could have done this to her. I have faith that in time Callie will be home where she belongs with a medical diagnosis and proper medical care. I am so sad that this is going on. People assume the worst always. My two daughters mean so much to me. Being a mom is the one thing I have always wanted to be. I am the mom who can't wait for their kids to wake up so she can see them...not the mom who can't wait for the kids to go to sleep so she can go out. I just never expected this to happen to my family. The one thing I keep reading about OI, is that people (including Drs.) are so ready to point the blame of abuse at the parents. I feel like Callie and Cami need me right now, and I am not able to be there for them due to legalities. Somewhat ironic, when they need me most I am not allowed to be there.
    CamiAndCalliesMommy 5 Replies
    • September 12, 2008
    • 09:26 PM
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  • PUSH to see a geneticist! OI is not the only diagnosis out there for this problem in children, and only genetic testing will uncover the cause.
    aquila 1263 Replies
    • September 15, 2008
    • 01:09 PM
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  • I would concur that this is likely osteogenesis imperfecta. The disorder arises from a gene mutation that is inacapable of permitting collagen to be made or causes collagen that is indurable, the consequence of which is brittle bones. While there are 8 varieties, the more subtle variations may take more time before expression is sufficient to warrant more accurate classificiation. There are numerous resources at your disposal, but fellows like Jay Shapiro who is at the Uniformed Services Research Center in Bethesda would likely rank among the foremost specialists in diseases like osteogenesis imperfecta. Research is also underway in the area of gene therapy. It's also important to know that while the mutation can be passed along from either parent, it can also occur de novo or by itself. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • September 15, 2008
    • 11:41 PM
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