I have a three year old daughter who has not been officially dignosed with CCD, but exhibits many of the symptoms. It has been a long three years of not even having a clear idea of what is going on with her genetically, but now that she is older and has more things presenting themselves (teeth abnormaloties, under developed clavicles, etc.) it looks like we may be on the right track. I was wondering if anyone would be willing to share their personal experiences of being diagnosed or having their children diagnosed. What can I or should I expect from our genetics team?
Hi!
I’m a 29 years old woman with CCD. The doctors think that I have no
clavicules and I havetoo many teeth. Shoulders are now ok, have some my
teeth and some false teeth. I was diagnosed with CCD when I was 20 years old
and I live a normal life. I am a proffesor of biology and chemistry, I have
a family. My 2 months old son also probably has CCD. He looks normal, but
doctors say that he also doesn’t have clavicules. We will see what time
bring, but I hope that he will live also a normal life like I do.
If you want any more informations, write me. My English is bad, but I will
try to writw you as I best can.
I’m from Slovenia, Europe. Where are you from?
Regards,
Manca
----- Original Message -----
From: “larabeaner” cleidocranial-dysplasia-cpt9008@lists.careplace.com
To: stanislav.kumar@kabelnet.net
Sent: Wednesday, May 07, 2008 5:31 AM
Subject: [cleidocranial-dysplasia] Pre-Diagnosis
Hi Lara-
My little boy Jackson is 2 and he was diagnosed at 15 months in Colorado. We went to our Children’s Hospital to orthopedics (due to primary physican noticing narrow shoulders) and then the genetics clinic and the Drs. did a clinical diagnosis right away as he exhibits most of the characteristics. Our genetisist also did blood work to try to confirm the clinical diagnosis. If you do this, first make sure you are pre-approved through insurance. We were assigned a genetic counselor who wrote a letter with the clinical diagnosis to insurance, it took 2 months in front of a panel of physicians. From my understanding few places in the US do this blood work, so most likely it is out of network. But if preapproved that this is a genetic condition and your daughter needs future treatment, I don’t think its legal for insurance to decline this. You definately want the clinical diagnosis for future treatment and need to be aggresive with the insurance companies.
After all of this, the bloodwork did not detect a mutation!! Per our genetics Dr… " 60-70% of individuals with a clinical diagnosis are found to have a mutation. Therefore, we cannot detect a molecular explanation for CCD in about 30-40% of affected individuals." - which is our case. Our Dr. is quite confident in the clinical diagnosis of CCD - we just can’t confirm an underlying cause at this point. Per Dr. “Many times in genetics, we can only make clinical diagnosis because we don’t even know the genetic cause. As technology and research improve, genes are identified which leads to additional testing. Many genetic disorders have more than one gene involved and sometimes it takes awhile to discover it. So, with time, we would expect to determine the underlying genetic mechanism causing Jackson’s CCD.”
My advice is to get a clinical diagnosis because as she needs treatment for dental work, etc. you need this diagnosis to get this covered under medical, not dental as a genetic condition. Our yearly visits now include: Genetics Dr. - both skeletal clinic and endrocronologists (if growth hormones needed in future), orthodedics (to monitor potential scoliosis) children’s Orthodontist (with expertise in these types of abnormalities) dentist every six months. We also have had his hearing tesed, gone to our maxiofacial/ neurosurery group to remove his adnoids. He has a mild case with his fontenal and hearing is OK, otherwise I think other people visit a maxiofacial Dr. yearly. Since they are young, I believe we are very lucky to have this diagnosed early as compared to others, ie. pre-puberty growth issues, dental issues there is more they can do if caught early before the permanent teeth don’t come through (ie pull baby teeth to promote growth, etc)
Sorry this was so long, but its been a whirlwind year of learning about his condition. If you ever want to contact me directly, please do. Our children are very close in age. I’ll add you as a friend.
Wendy Davis
Hi
I have a 18 year old daughter with CCD. She was diagnosed with Hypophosphotasa at birth. We went to the Shriners Hosp in the USA and they said she has CCD when she was 10 years old. At the same time Genetics in Toronto Canada Dr Unger reviewed Jacquie’s file and the next week she called us to her office to tell us she had CCD. Then Jacquie’s blood work was sent to Germany to find the mutation for research. We just got the results back after 7 years to comfirm she has CCD. (we were very lucky to get the results back) It is a dominant gene therefore she has a 50% chance of having a child with CCD. It is not easy to get a confirmed diagnose. We live in London Ontario Canada.
Jacquie has had 7 operations. The big ones were a plate put in her head to cover the opening and protect her brain. Spatial frame on both legs to straighten. Now we are doing teeth. She has no adult teeth. She has a severe condition but lives as normal alive as possible. She is 4’ 2" tall. Goes to regular school has a job at Walmart. She has more courage then anyone I know.
My advice to you is to enjoy your child for what they are. I have spent so much time trying to fix Jacquie. She is perfect the way she is. Just take it one day at a time or you will go crazy. I did with the what if questions.
Good luck
If you have any questions email me
Bye for now Sue
Lara
We took our first child to a geneticist. Really, you do not need one as
this is a clinical diagnosis, no or small clavicles, abnormal teeth- loof
for plaque deterioration or really oddly shaped teet, a large or
protuberant belly, short stature, a fontanelle that has not closed or a
very large head size, wide apart eyes(hyperteliorism) and a very
prominent forehead known as frontal bossing. Both my boys have all these.
The geneticist drew blood and confirmed the abnormality on chromosome 6.
Ten that was all they did because no one has done any research this.
Start looking for a good orthodontist who has dealt with many, many cases
and an oral surgeon because most likely dental exrays with confirm two or
more sets of teeth.
Good luck.
Mary
----- Original Message -----
From: larabeaner
To: clinpharm@dellmail.com
Subject: [cleidocranial-dysplasia] Pre-Diagnosis
Date: Tue, 06 May 2008 23:31:02 -0400
My daughter was diagnosed last fall at the age of eight after I raised my concerns to our pediatrician, who then referred us to a pediatirc endocrinologist. Endocrinology ruled out any growth disorders associated with the pituitary system and then referred us to a geneticist. The geneticist told us that the advantage of seeing a child at age eight was that he had a good history of her development and that would help him with his diagnosis. At the age of eight my daughter had not lost any baby teeth, had short stature, short thumbs, flattened mid face with a large forehead. Full body x-rays confirmed the geneticist’s diagnosis of CCD. There is a blood test that has been developed within the last few years. Doctors have isolated one gene that is known to be responsible for CCD. The blood test involves sequencing the gene’s code and can determine if the genes code is missing or scrambled. If the gene’s code is intact, then it is concluded that the code becomes mutated during translation(called random mutation), which at this time cannot be seen with the blood test. 60-70% of CCD patients tested have an error in the sequence code, the other 30-40% have a random mutation or the cause may be another gene that doctors are not aware of at this time. The majority of CCD patients are diagnosed from a clinical examination.
CCD is a spectrum disorder, meaning it can be mild to moderate. My daughter has clavicles, but she has all of the remaining features of the disorder. She is a very bright and healthy 9 year old. Sometimes it takes a few years of growth in order to rule out other possibilities, so don’t despair that you are running out of time. You have many years to address the dental issues that most CCD patients face and manage your daughter’s care. Scoliosis affects a small percentage of patients and is not usually an issue until the bones stop growing at puberty. Best of luck with your search for an answer.
Hi:
My name is Kathleen Shambaugh and I’m happy to share with you our experience. I havd CD and both my children do as well. I have no clavicles, neither do my children. All of us have had dental abnormalities, delayed dentition, no eruption of permanent teeth, etc.
I’m now 49 and when I was growing up my parents took me to dental schools for my dental work. I had a few oral surgeries and now have an upper and lower partial since my teeth never came in. That was the best that could be done at the time.
My kids, who are now 21 and 20, have had numerous oral surgeries (at least 10 each) to bring in their teeth and have endured at least 10 years of orthodontia apiece. My daughter had braces for 10 years but now has a full set of her own teeth in her own mouth. My 21 year old son has almost a full set of teeth and needs a small partial.
While we were told that the kids would be very short (I am 4’10), my son is about 5’7 and my daughter is 5’3 - so those expectations did not occur. All of us are in good health. I would advise a couple things:
- Get a genetic evaluation from a doctor so you know what to expect;
- Take your daughter to the nearest dental school where you live and ask them to follow her progress. It’s cheaper and they are on the cutting edge of technology.
You don’t say where you live. We live in the San Francisco Bay Area. My son graduates from college in a week and my daughter is in nursing school. CD is something that can be difficult but everything works out. It’s how you choose to handle it that will provide the example for your daughter. I’d be happy to continue corresponding with you.
Kathleen
larabeaner cleidocranial-dysplasia-cpt9008@lists.careplace.com wrote:
I dont have a lot to tell you, only that we KNEW what my son had because his
father has it also. When he was born I am the one who actually told the
doctors what he had. He was transported to our local childrens hospital
where the doctors there promptly called me to get all the information I
could give them on it. THAT was 18 years ago. Now there are probably 200 CCD
patients seen on a regular basis at our local childrens (columbus Ohio). As
for the genetics team…We seen them for the first time 3 months ago when
we asked a question about IF the college career path would be ok for my son
to do…meaning would it be too hard on his body since it was high
performance auto mechanics. She came in and said “Ill do a full body scan x
ray and we will go from there” The next month we saw her and she said she
wanted to send us to an orthopedist and off we went. Unfortunately the
orthopedist was a jerk and we didnt get any info. SO, last week we went back
to the genetisit to see WHAT she actually saw that sent us to the ortho and
found out that the genetics dept only “diagnose” the disorder. After that it
is up to each individual specialist to treat the issues that come along with
it…such as the orthodontist, rhumatologist, plasic surgeon, neurologist,
ENT, etc. SO…what you can expect from the genetics people…in my
opinion, about as much as you can expect from your own research and
diagnosis…but of course then you will have a MEDICAL diagnosis to go on. I
was told that if my son had clavical issues, teeth issues, slow or non
closing fontenel then it was CCD. My son has all of those along with ear
issues, back issues, joint issues, barrel chest, shortness of stature, etc.
AND he was also born with a cleft lip (called a cupids bow- how oddly
appropriate since he was born on valentines day) and a growth in his brain
called a Lypoma (meaning its just something in there that doesnt seem to be
growing yet they have no idea what it is so they call it a Lypoma of the
corpus collosum)
IF you are having issue, call 614-722-kids and ask to speak with the
Craialfacial clinic. Once there ask them if they can send you some
information on CCD (specify that it is Cleido Cranial dysostosis as they
call a few things CCD) and tell them why. They may be able to even have
Doctor Adkin (genetics) or Dr. Ruberg (plasic surgeon who is a specialist in
CCD) call you back to discuss things to talk with the doctors about.
Good luck to you and please feel free to write me any time with questions. I
can tell you how its went with us…up to age 18 with my son and age 39 with
my x husband (thats the age he passed away)
Kim
kim@kawalker.com
----- Original Message -----
From: “larabeaner” cleidocranial-dysplasia-cpt9008@lists.careplace.com
To: kawalker@columbus.rr.com
Sent: Tuesday, May 06, 2008 11:31 PM
Subject: [cleidocranial-dysplasia] Pre-Diagnosis
My daughter was born in 1989 and at that time there was no genetic testing. We went through a slew of testing and no one could figure anything out-since all her developement physically and mentally was on track we did not continue with testing. She resembled her father’s family- all who have Cleido Craniel as we have come to find out. She was finally tested when she was 11 at Children’s in Boston- and we finally had a diagnosis. I wouln’t expect much from the genetics team because most people with cleido cranial only have minor complications and live full productive lives.
I can share these experiences:
The biggest difficulty has been the teeth- my daughter has 8 oral surgeries- everyone of her adult molars had to be exposed as they did not come down on their own. My daughter is 19 and still in braces ( much to her chagrin)- we hope we are at the tail end. She has opted to leave her 12 year old molars impacted as she is tired of waiting for them to erupt.
She has dealt with the physical issues such as shorter stature, feet and hands with ease-although finding size 5 women shoes is a challenge and because of her clavicles she cannot wear certain clothing styles- she makes do. She also had incorporated strength training,pilates and yoga into her life to help with her posture.
Out of the many diagnosis that you may have faced cleido cranial dysplasia is a diagnosis not to fear. My daughter has led a very active life- and no one would suspect that she suffers a genetic condition.
My daughter has every charcteristic of classical cleido cranial except the hearing loss- make sure your pedi checks that.
Best of luck!
Gloria
areplace.com> wrote:
Thank you to everyone who has replied. All of this is VERY helpful information. Luckily, we already have a pediatric dentist and an orthopedist who sees Rowan once a year. Oddly enough, our orthopedist originally treated her for her hip dysplasia, but follows up because of another anomaly she had that may or may not have anything to do with CCD. Rowan was born with 3 extra digits on one of her feet and I think that is what has had everyone a little baffled. Nobody even realized her under developed clavicles until I pointed out that I thought there was something odd about her shoulders. Our orthopedist was actually a little embarassed that he had missed it! Again, thank you all for your replies. I am hoping things will move a little faster now and we can be a little more pro-activegoing forward.
Hi-
I have a 20 year old son who was diagnosed with CCD when he was 2 or so. The
paternal side of his family has a mutated version of CCD, so he has some
slight differences like his clavicles are not as underdeveloped as usual.
We had quite a way to go before he was finally diagnosed. We went to all
sorts of doctors, then finally one sent us to the geneticist. They hadn’t
found the gene differences yet. In fact, he was in a study to determine
where they were.
Anyway, back to the geneticist, all I have to say may not be valid any
longer. With Patrick, they looked all over his body for even slight
differences, measured his face a thousand ways, took x-rays, took an
extremely detailed family history and requested that his paternal family
come in for the same.
Patrick’s is milder than most. He has had very complicated dental issues, of
course. That’s been a bit of a pain, because health insurance won’t cover
much, and dental insurance only covers a tiny amount as well. As far as
genetic syndromes go, CCD has been pretty straight forward. In hindsight, I
would take him to be evaluated at a Shriners hospital.
Hope this helps.
Carrie
On Tue, May 6, 2008 at 11:31 PM, larabeaner <
cleidocranial-dysplasia-cpt9008@lists.careplace.com> wrote:
Most of you are very lucky to be dealing with younger children and todays medical advantages because I believe there is more knowledge about CCD than when my daughter was born. My daughter is 43 years old and suffering from many problems that they tell us might or might not be related to CCD. She is short statured - 4’10". and was alway very small for her age until age 16 when she grew about 7 inches.
At birth the problem with her soft spot was discovered and after an extented stay in the hosiptal, no one seemed to know what had caused this. Sorry to say that the pediatricians weren’t much help either. At the age of 5 a dentist discovered she had too many teeth and sent us to an oral surgeon who diagnosed CCD - her pediatriciian didn’t believe this diagnosis was correct until x-rays showed no clavicles. About the same time she went into corrective shoes which we have now been told might have been because of CCD.
It was never suggested that we see a genetics specialist - she saw one for the first time in late 2007. We were always told that the only thing we had to worry about (once the soft spot finally closed) was her teeth (remember this was in the late 60’s) at the age of 9 she had all of her baby teeth removed along with 30 permanent teeth and today still has a full set of teeth (including at least 7 wisdom teeth that haven’t errupted). She has worn overlay dentures since the age of 11 - her first 13 years were spent in California. Dental insurance doesn’t pay anything towards overlay dentures because they are considered cosmetic.
After moving to Indiana, the IU dental school tried braces for a couple of years but had no luck moving the teeth. Today her teeth are crooked, crowded and have no enamel and even though she has dentures still must have normal dental care for her own teeth. Dentist have never wanted to remove her own teeth because they fear bone loss and the problems she then would have wearing dentures.
She has had 5 pregnacies with 2 live births - almost losing the last one. The genetic doctor that she recently saw said that it is very possible the this could be associated with the CCD. Neither of her two children have CCD - nor do my other three grandchildren.
In her late 30’s she started having lots of problems, lose of hearing (probably from CCD), severe left shoulder and arm pain, along with arm numbness. The first time this happened the doctors thought she had had a stroke. The last three years the pain has also started radiating up and down her left side, with extreme numbness at times. She has been seen by numerous specialists, had many MRI’s, done lots of physical therapy and no one can tell her what is causing these problems and if it might be related to the CCD. they just say it might but are not sure.
Even the genetic doctor couldn’t say one way or another and seemed to be more interested in why she wan’t seen by someone in his field when she was a child.
My husband was born in 1968 and was diagnosed with it at birth. We think he was anyway. He was adopted and we do not know much about his genetic parents. When I was expecting our son, we went to perinatology to rule out one condition. Which was done on the first visit. However, when we told them that my husband had CCD they became very interested. That was the first of several visits there. They kept trying to see both clavivals. It was finally around my 9 and half month mark when they told me us that our son had this because he is missing half of one clavical. No one told us that breathing could be an issue for him. Since this was my second c-secion we scheuled it for my 39th week instead of 40th week. He was in the NICCU for the first 10 days of his life and on a vent. for 5 days. Had I know that this is common, I would have waited until the 40th week. We were very fortunate that we knew going in what we did know about CCD, it really didn’t upset us
that he had it. My husband had to have 2 major dental surgies. The first was to pull the primary teeth because he didn’t lose them as most children who do not have CCD. The second was to cut out most of the extra set that he had, and to manually pull some of the secondary ones out of the gum. I am not saying that this is typically of all children with CCD, just that this is his experiece. We can only wait and see how our son’s teeth come in. I have found a great dentist that has treated children with this before.
We also have been to a pediatric neurosurgeon and ped. endocrinologist. I must say that I didn’t find either one expecially helpful. The first quizzes me about what I know, as if he has yet to research it. We have been to him 5 times. I finally stopped going regularly. The second just told us that it was too early to tell if he was going to he short, because they have to wait until the children are 3. HELLO!!! My husband and I are both under 5’3". I mean really what do they think? He is going to be 6’5"? Any way I hope this helps you. I find that humor helps us get through the rough spots. I hope that I didn’t come off as bitter because I am not. I love my son and husband and hope that this information helps you. By the way. My sister just had her 5th child in January and his soft spot is smaller than my 2 1/2 year olds.
----- Original Message ----
From: larabeaner cleidocranial-dysplasia-cpt9008@lists.careplace.com
To: walser1@yahoo.com
Sent: Tuesday, May 6, 2008 11:31:02 PM
Subject: [cleidocranial-dysplasia] Pre-Diagnosis
Hello, if anyone needs my help you may email me at:
miotke135@yahoo.com
I am soon to be 48years old and I am an only child. My mother is 76years old and a spontaneous mutation.
Does anyone with CCD have malabsorption of vitamins? I have malabsorption of vitamin A, vitamin E, vitamin D and vitamin B-12 along with low calcium levels.
I also have a rare lung disorder called vary eosiniphilic bronchitis.
Osteoporosis, osteopenia, osteomalacia. A tethered spinal cord. I had a surgery in 1997 to release the tethering of my spine. Today I have in a sense a retethering due to scar tissue. Does anyone else have any of these medical problems?
You may email me at miotke135@yahoo.com
If I can be of any help please don’t hesitate to email me.
Sincerely, Pam Miotke, near Chicago, Il.