JS-LIFE Research Challenge

What are your questions on diagnosing and treating Joubert Syndrome?

Ann Chang's picture
Discussion Topic Status: 
Open for Discussion

Ideas:

  • What are unanswered questions about how children and adults are diagnosed?
  • What are concerns about current treatment options?

 

Comments

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Carin Sutton's picture

What is the official way of diagnosing Joubert Syndrome. I've been told it's by the MRI and molar tooth sign and I've also been told that it's off of genetic testing.  Is it one or the other or both?

Maura Ruzhnikov's picture

Great question. One possible question we could ask from our database would be: How was you child diagnosed? Via genetic testing, imaging and clinical features, or both?

Because there are some overlapping features of the MRI findings with other ciliopathies/ brainstem and cerebellar malformations, genetic testing allowing confirmation of a known gene and/or discovery of new mutations leading to the Joubert phenotype are important components of the diagnosis as well as our continuing to learn more about the disease! 

Sharon Terry's picture

I like this one - diagnosing correctly is one of the first critical steps, of course.  And from the data that JSRDF is collecting, you could determine the most common ways children are diagnosed and also enumerate the main signs and symptoms at the time of diagnosis.

Lorraine Johnson's picture

Diagnosis is the most important step of all in the journey to health.  Delayed diagnosis can allow a disease to advance.

Brett Elliott's picture

In what ways can we improve the speed of proper diagnosis to immediately after birth or prenatally? Most parents don't get diagnosis until developmental delays are more apparent unless there are medical issues that point to a Joubert syndrome Diagnosis.

Vanessa Jacoby's picture

Great questions! Can you share how earlier diagnosis may have helped your child and family?

 

Carmen McGahee's picture

Had I, personally, known sooner I would have been able to make arrangements to pump or have lactation consultations lined up. Being extremely low tone my son was never able to suck/breast feed properly. This was one of the first JS struggles we faced. We also would have started PT, OT, Speech much sooner. We could have prepared ourselves so much more had we known. 

Brett Elliott's picture

An earlier diagnosis may have helped us find support such as the JSRDF sooner and allowed us to begin monitoring for kidney, liver, or retinal issues sooner.  It would have also helped us figure out what her breathing and oxygenation issues were and given us earlier recognition of Irregular eye movements allowing us access and a route of attack for vision related therapies

Vanessa Jacoby's picture

It seems like another thread in these comments about early diagnosis is the variability in how children and families receive the diagnosis: what symptoms occur first and which healthcare provider conveys this information. The JS Life database had great information to help address this question. Is this of particular interest?

Hannah Glass's picture

This is a great question! Was the diagnosis based on brain findings or based on other organ involvement? Which diagnoses came earlier? This information will help us to target education and acheive earlier diagnosis for affected families.

Louise Dove's picture

We struggled for over 4 years going to countless specialists and traveling trying to find out what was wrong with our son.  While it wouldn't have changed what we were doing (OT, PT, Speech therapies) having a diagnosis would have done a great deal for our mental and emotional well being.  We would have been able to research more and had 4 years to better prepare for what was coming.  Even now he's 11 years old and no one knows what to do with him or how to answer the questions we have.  

Maura Ruzhnikov's picture

Agree this is a great question. It would be interesting to find out how many families learned of a possible diagnosis from the 18 or 20 week pre-natal ultrasound?

There has been some discussion in the scientific literature about ensuring prenatal US includes multiple views of the 4th ventricle for better assessment of Joubert and related disorders. In one study all patients had abnoralities present on their 20 wk scans, but this only incuded 7 patients. Getting more information about this might be interesting and lead to a good argument for more detailed scans! 

Brett Elliott's picture

Absolutely, I think many parents (including myself) get an incorrect diagnosis of some form of Dandy Walker malformation due to measurements of the 4th ventricle being off, I think they could greatly increase prenatal diagnosis if the was a protocol to look further if dandy walker is suspected.  just my thoughts :)

Susan Friedman's picture

Hi Brett.  My daughter was initially diagnosed with Dandy Walker as well when she was 2 yrs. old.  This was strictly based on the 4th Ventricle situation too.  Fortunately for us, we went for a second opinion and the physician involved with my daughter's case, happened to have a grandchild with Dandy Walker Malformation.  He quickly nixed the diagnosis and said that she had Jouberts Syndrome instead.  It was confirmed with MRI.  Of course now (this was 22 yrs. ago) things are very different. It's my understanding that there is early testing.  Also, some patients do have a dual diagnoses of Dandy Walker and Jouberts.

Joshua Bear's picture

I like the thought. It would be great to do a comparison of prenatal imaging findings with 4th ventricle abnormalities to see if there are better clues to what the post-natal diagnosis will be, although this would require another step in the research (since the imaging would have to be collected) that might need to be delayed to a later phase. Still, perhaps it would be helpful to report the number of individuals who received a prenatal diagnosis that was correct versus incorrect? 

Dana Knutzen's picture

This is a interesting discussion.  As a genetic counselor who practiced in the prenatal setting for 7+ years, I feel that I should share that it is extremely difficult to diagnosis a fetal brain malformation correctly or to diagnosis it accurately enough to be able to tell the family what it will mean fo their child.  Dandy Walker Malformation is something that is well known among perinatal specialists such as Maternal-Fetal Medicine physicians, so it's not surprising to me that many kids with JS get first diagnosed with Dandy-Walker.  Joubert syndrome however is not well known, hence the nature of a rare disorder.  There were a few instances during my clinical work in high risk OB that the perinatologist suspected Dandy-Walker malformation.  Knowing that I had a long history with Joubert syndrome, I was asked to provide my input on the ultrasound findings.  In the absence of a family history of JS and other features (extra fingers, encephalocele), it was impossible for me to determine what may be Dandy-Walker and what may be Joubert.  Having prenatal imaging reviewed by expert geneticists/neuroradiologists who are familiar with the nuances of looking at fetal imaging is so important.  Perhaps if there can be further review of the fetal imaging of JS with a clear description of what to look for and this is made directly availabe to MFM physicians with direct links to specialists, more prenatal diagnoses of JS would occur? This would in turn help parents, such as those that have shared their experiences on this thread, prepare and plan accordingly to best meet the needs of their child with JS after birth. 

Brett Elliott's picture

Absolutely Dana.  In the situation you describe, at least the perinatologist knew to consult with you to explore the possibility of more than just Dandy Walker. Even if your determination was inconclusive, that door was still open for discussion and noted.  In my personal experience with Angel it was, "she has Dandy Walker syndrome, I'm 100% positive and no further exploration necessary" then she was born, the neurologist came in and did a 2 minute ultrasound of her head and said, and I quote verbatim, "Nope, no Dandy-Walker, guess you don't need me" and left the room without waiting for any questions or giving any further explanation.  We waited 5 months thinking our daughter had no neurological issues at all until the delays were too apparent to deny.  I agree that further review by specialists and multiple views of the 4th ventricle would greatly increase early detection and diagnosis especially in cases of suspected dandy Walker since that seems to be a very common misdiagnosis among Joubert syndrome patients. Maybe a good study would be to ask how many JS patients were prenatally diagnosed with Dandy-Walker before arriving at a JS diagnosis, this could bring light to this early indicator and open the door to suggest a protocol change for suggested Dandy Walker cases.

Shantaria Miller's picture

My son is almost 8years.... When I first found out that my son  diagnosed with Joubert syndrome.. He was 5months & at that time the Doctors still didn't know what to do or say to me...... but my as his mother, all I could do is just continue keep taking him to the doctor and getting checkups from different specials and that this time all I could do is just continue keep taking him to the doctor and getting checkups from different specials and including him therapy. So for now he goes to rehab school and getting OT PT and speech therapy. I want to learn more about Joubert Syndrome i see his they anythinh that can help with his head being  large & to help him walk... It's really hard for me as a single mother of 3 & Sema'J being the baby.... so I will love to get the help I need to make my life a little bit easier!

Vanessa Jacoby's picture

Thank you so much for sharing your story Shantaria. You mentioned that when you got the diagnosis of Joubert Syndrome for your son that the doctors didn't know what to say or do. What information would have been most helpful to you to hear from the doctors at that time?

Susan Friedman's picture

Hi Shantaria.  The best thing to do is therapy.  I would also recommend sensory integration therapy.  This is key in Jouberts since, the sensory system is greatly affected.  We also did Music Therapy, Water Therapy, Horseback Riding Therapy and something called Samonas Sound Therapy.  All these interventions helped greatly along with years and years of OT, PT and Speech Language Therapy.  Don't be afraid to ask your school district for assistance as well.  If you are not happy with their assessements, you can ask the school district for an outside evaluation (it's called an IEE) and they have to pay for it.  This can be very beneficial for your child's education and therapeutic assistance in school.

Dana Knutzen's picture

What is the average age at the time of diagnosis of Joubert syndrome?  Are medical professionals diagnosing JS at earlier ages with advances in recognizing clinical features and genetic testing?

Maura Ruzhnikov's picture

Dana, this is an interesting question, and ties into a similar question above posed about how Joubert syndrome is diagnosed (ie via imaging, genetic testing, or both). 

It might be interesting to ask at what age families were given a diagnosis and whether that has changed relative to birth year?

A related question is how many have had genetic testing and at what age-- ie how long did it take for specific genetic testing to be pursued? 

Susan Friedman's picture

Hi Dana.  My daughter actually was diagnosed at the age of 2 with Jouberts but, because it was so rare, no one believed she actually had this. That's why Dandy Walker Malformation was given as the "official" diagnosis.  Wasn't until two MRI's confirmed Molar Tooth Sign that any physician would believe this diagnosis. We are still struggling with the genetic testing part and would love some assistance with that (cannot afford the cost of testing).

Joshua Bear's picture

I'm sorry to hear about your challenges with diagnosis. The issue of financial costs / burden to families could be a good area to explore. Would a review the biggest financial barriers to either diagnosis or care be helpful for guiding future support programs? 

Susan Friedman's picture

For our family, the process of getting diagnosed has been difficult and very stressful. An initial diagnosis of Joubert-Nephronophthisis was made at the end of 2008, when we found out that our daughter was dying from End Stage Renal Failure. Our daughter still does NOT have a definitve diagnosis and, may have some weird variant of the disease.  She has been in three studies for the past 6 years however, these studies only look for very specific information and do not share this information with families of those with this condition. This has made the original diagnosis frustrating and left our family not knowing what is going to happen to our daughter in the long term. There has been no treatment for our daughter, other than her kidney transplant.  Since the transplant, most physician's want nothing to do with our daughter and state "she is much to complicated for anyone to treat on an ongoing basis, go find another practioner and a larger hospital system."    This is really unfair and left our family with no supports or accommodations.  More awareness of this disorder needs to happen among physicians.  Most of them do not know about this disorder or how to treat it.  All they do is walk away.

Vanessa Jacoby's picture

Thank you for sharing these insights Susan. You mentioned that your daugher has been in several studies but they have not been helpful to you. What type of study do you think would be helpul? That is, what type of questions do you think need answering in a research study on Joubert Syndrome?

Susan Friedman's picture

Hi Vanessa.  My daughter Jillian has now been in two studies and a third is in the works.  The unfortunate thing about this is, most studies only look at specific information and are quite limiting for answering larger questions families may have.

The studies are very specific as monies are limited for those researchers.  We were really mislead by our medical team (Transplant Team) that these studies would give us the answers we were looking for.  Perhaps years from now they will give us the answers but, for now there is nothing solid for our family to go on.

Also, most studies do not share any information, unless it's specifically stated in inital paperwork and/or only if positive results are found.  For this reason, we have NOT been able to qualify why type of Joubert-Nephronophthisis my daughter has. There have been no positive results in 6 years with any of the studies she has been in. We do know that she has Joubert-Nephronophthisis (Molar Tooth Sign on MRI and also, Kidney Transplant) but we just don't know the type of Joubert's it is.

Because there are now 24 genes that have been identified (there were only 4 when we started this process 6 yrs. ago), it's virtually impossible to know how to test my daughter.  We were told that, she may have some weird variant but again, unless this is qualified we just don't know.  And again, studies are very specific and don't look at all of the genes. So how is our family supposed to know anything?

It's now been six years since the initial diagnosis and, we have no better idea now than we did 6 years ago, exactly is wrong with our daughter and how she came to get this disease. I am not certain I know how to answer your question because, our experience has been so different from other families.  Sometimes I feel like we are being singled out as, other families have alot more information and cannot understand why this is happening to our family.

There is alot more testing available now than when my daughter was diagnosed and, younger children are now reaping the benefit of that testing.  It's just too bad that my daughter couldn't have been tested 6 yrs. ago when she did have the insurance to pay for it. We do have a Geneticist however, he is just as frustrated as we are that insurance will NOT pay for any kind of testing.  This is the reason for getting into a study as, it doesn't cost anything.  But as mentioned earlier, they also will not release information unless it's positive.  This is beyond frustrating.

We are just looking to qualify what gene(s) were affected and what the long term would look like for our daughter.  It's very scary not knowing anything.

Medicaid really needs to revamp most of it's requirements for individuals who have rare disorders.  Because Joubert-Nephronophthis is so very rare, we simply cannot get any assistance where we live (Florida) and, my daughter's case and her care has fallen by the wayside. Her current physician's are just as frustrated as we are, mostly because they have NEVER had a patient with these disorders and, they just don't know what to do for my daughter. To be honest, this diagnosis scares everyone and they walk away.

Perhaps our Government needs to take a closer look at genetic testing so that, it would be fair for all parties concerned wanting to get a faster diagnosis. The only other suggestion I could make would be that, research studies change their criteria so that, it's more expedient to receive a timely diagnosis instead of, the study nitt picking only what they want out of it.

 

Maura Ruzhnikov's picture

Susan, I'm so sorry to hear how frustrating arriving at a diagnosis and getting appropriate care and services has been for your family! We're hoping the JS-Life Challenge will allow parents and caregivers like yourself the ability to have a say in what questions are answered by a study, and also importantly keep you engaged thorughout the process so you are finding out any information in real time right along with us! 

It would be great ot hear more specific questions that have come up along the way for your family that might help other families going through this process as well. 

It sounds like physician education is one important question you bright up- ie. Have you been able to find a provider knowledgeable and/or comfortable with the diagnosis of Joubert and related disorders? What specialties does your son or daughter see regularly? 

Susan Friedman's picture

Hi Maura.  There are NO providers where we currently live that are willing to assist my daughter with her medical care or interventions.  The only group of physician's we are associated with is our Transplant Team and, they are over 3 hours away from where we currently live.  This and has been frrustrating and very scary to say the least.  My daughter has had several very close calls and has almost lost her life because of the lack of good medical care.  Also, and this is very important, once physician's see her diagnosis and that she had a kidney transplant, they want to run the other way.  This has been the case for ALL of them.  I'm constantly being told that "the hospital is not capable of supporting a patient like your daughter." What are they capable of???? There are many patients where I live with kidney transplants however, they are "normal" or "typical" and do NOT have other issues such as Autism or a rare neurological disorder.  Frankly, most of this feels discriminatory.

We just recently found a few physicians (Neurologist, PCP, OB/GYN and Endocrinologist) that all take Medicaid Insurance.  Most physician's where I live (SW FL) will NOT take Medicaid and this has been a HUGE issue for my daughter's medical care.

Although these physician's are very nice and have taken my daughter as a new patient, they all readily admitted that, they knew NOTHING about her diagnosis and still felt very uncomfortable and unsure of just what to do for her.  That is NOT reassuring to any parent.

Perhaps if we lived in a much larger city with a larger hospital system, these physician's wouldn't feel so lost.  It's really hard to say.  Physician education is really key here.  It used to be this way years ago with Autism (which  my daughter also has). There is just alot more information out there now on Autism than there used to be. Alot of physician's and their practices do get continuing education workshops on Autism.  Orphan diseases are alot more difficult for physician's to handle because they are so rare.  It does scare them off. I am not certain how something like this could be handled?  Perhaps the people in Washington, D.C. could answer some of these questions and more?  When you look at the list of orphan diseases, Joubert Syndrome is only listed.  You cannot find Nephronophthis anywhere on the website.  Not listed.....so, doesn't exist. This is the mindset of most physicians.  I do try to education them and print out alot of material however, this scares them as well.

Also, and this is very important.  When individuals with Joubert and other disorders are younger, there is much better pediatric care available.  Once they turn 21 and are no longer considered pediatric but are now "adult" patients, most physician's do NOT want to know who they are. The quality of care then drops down to virtually nothing and, families are left to their own devices.  I am certain we are not alone in this.

Hope this answers some of your questions?  This is such a personal journey and most families have much different experiences depending upon where they live and who takes care of the individual in question.  We just haven't been very lucky.

 

 

 

Vanessa Jacoby's picture

Hi Susan,

Thank you again for sharing your story. I am sorry you have had so many frustrations with the healthcare system while advocating for your daugther. The JS Life Challenge and the Mosaic process are trying to remove the "closed doors" approach of many research studies by opening asking researchers and families effected by Joubert Syndrome to work together to plan a reseach study that is relevant and important to you.  We want you to be involved throughout the entire process of planning the study, conducting the study, and seeing/learning of the results, and sharing with your family and others with JS.

We have some great discussion threads going and are excited to move forward with this brainstorming!

Thank you

Maura Ruzhnikov's picture

Thank you for your response Susan! You raise so many important issues with obtaining care for children with rare disorders, and just appropriate care in general with our current health care system-- I certainly have seen the struggle first hand in terms of transitioning to adult care for a number of patients with neurologic disease.

Things we might be able to pull out from our database in terms of answerable questions related to this might be whether or not patients had trouble reaching a diagnosis due to health insurance coverage (ie genetic testing or imaging not approved or significantly delayed); as well as an overall survey of the problems most commonly faced by the older participants with JS in the group-- ie do they have more of a particular health problem than the younger kids? What is the spectrum of functionality in adulthood (do they finish school, live at home, live elsewhere, etc?). These sorts of questions certainly wont fix a lot of the issues you raised, but it is information we might use to better inform the public, health care providers as well as law makers. 

Susan Friedman's picture

Hi Maura.  Long term medical care is key in supporting young adults with this disorder (and it's related disorders). Also, ongoing accommodations are necessary but, simply impossible due to the many different types of manifestations within the disorder. That's why I feel it's very similar to Autism, a Spectrum Disorder. The medical community is overwhelmed so, it's much easier just to walk away. Most of the time our family concentrates on only the Autism part of our daughter's issues simply because, there are more supports out there.

Stephen Mack's picture

It would be helpful to be familiar with, or have recommendations, for prenatal screening insofar as what one might look for in an ultrasound.  Even if there is not a 100% chance of a diagnosis that early, our experience was that with Isabella there was no knowledge, but with Abigail (our youngest, and unaffected by JS), we were able to look for certain things, even within the ultrasound.

Maura Ruzhnikov's picture

Stephen I think this is an important question that doesnt seem to have been answered on a large enough scale yet.

How many of you had an abnormality detected on the 18-20 week ultrasound? 

Elisabeth Sinthavong's picture

My son had several abnormalities on his 22 week ultrasound. My doctor makes her patients wait until then to get a better details of the heart. My son had cysts on his kidneys, a cleft lip, and an enlarged 4th ventricle. He was never given a diagnosis in utero.

When he was born, an echo showed a vsd, he had a cleft lip/palate, head ultrasound normal, and a left dysplastic kidney and right cystic kidney on ultrasound. Of course we were referred to genetics, cardiology, nephrology, plastic surgery, and ENT as an outpatient and for a head ct. Head Ct showed "prominence of the 4th ventricle of uncertain significance and a cavum septum pellucidum". At 1-2 months of age I observed nystagmus and we were diagnosed with lebers by an ophthalmologist. My doctors never verbalized any assumptions regarding a diagnosis. then genetics ordered a lot of lab work and a MRI. A diagnosis only took as long as it took me to make all the appointments!

Sorry, more info than you asked!

Landon Borders's picture

Is gene therapy a viable option for affected children with related disorders (for example, kidney or retinal involvement)? 

 

Susan Friedman's picture

Hi Landon. I would love to know the same thing as this is something my husband and I have been thinking about.  I do know that Duke University is doing alot of studies and experiments along these lines.  There are videos out there called Ted Talks on YouTube that discuss this very thing.  You may want to access some of those and/or call Duke University.  I was told last year that, many families of Joubert Syndrome individuals are relocating there for this very reason.  We are also hoping to be one of those families in the near future.

Maura Ruzhnikov's picture

This is a great question Landon; I'm not sure we will be able to address it will in terms of a research study using our current database, but we can look into what treatments families have heard of and /or tried thus far? This might pull out some research studies people have been a part of as well as medication and/or therapies that were particularly useful for certain families. 

Brian Sidella's picture

Our 23 year old son Alex was misdiagnoised for years.  It wasn't until he was 12 that through my own research I came across a paper from Italy on a condition called COACH Syndrome which was later proven to be the condition Alex in fact has.  He participated in the NIH study a a few years ago and we now know the genes that have caused this condition.  What's needed??   Well, beyond a cure or treatment FAR more education to GI docs.  Alex had a major bleed last year and if we had been told to scope him every 6 months to a year instead of every two years it would have been treatable.  He ended up needing a splenal renal shunt and is now doing well but finding the right medical people who know about COACH and the nuances of his liver fibrosis was extremely difficult.  COACH is a subset of Jouberts and far more rare.  I'd love for this community to put together a list of COACH patients who can reach out to one another and compare notes and know that they are not alone.  We've  run up against a brick wall in trying to set up such a group with HIPPA rules.  We volunteered to write the letter and have families reach out to me but again was told no.  Anyway not complaining just wanting to help parents and kids who have COACH as we've learned a great deal over the past years.

Maura Ruzhnikov's picture

Brain, another member on JS Life also mentioned wanting more information regarding patients with complications related to liver involvement.

I wonder how many patients enrolled in our database have had similar experiences? Even if the group ends up being quite small, we might be able to pull together some specifics regarding complications faced thus far and at what age, surveillance recommendations given (ie the frequency of scoping as you mentioned) and treatment options tried. 

Brian Sidella's picture

Maura,

That would be something that could help immensly and very likely save some lives.  The mortality rate for bleeding varicies is over 50% and knowing what to do should they happen, what medications to take, surgical options, surgeons that even know how to perform a splenal renal shunt and so much more...

Vyonne Keller's picture

My 30 year old twin daughters were just diagnosed with JS a few years ago.  They were diagnose with Ocular Motor Apraxia at approx. 14 months.  We only found out about JS when one on my daughters was in a car accident with a head injury and she had a MRI.  They both have liver involvement and it is almost impossible to find a doctor who has knowledge of JS, I do understand how frustrating that can be.  They also have very bad behavior problems, sleep disorder, anxiety, depression, low muscle tone, ect.  We have put together an information packet with info about all of the different problems they have and carry it with us so we can put it in the doctor's hand.  At first glance my daughters appear to be ok which sometimes makes it more difficult to get help.  I think as well as liver questions I would be interested in hearing about the behavior problems that some families face.  My daughters have been diagnosed with every mental disorder under the sun and I would love to know how much is JS and how much is something else.

 

Vanessa Jacoby's picture

Hi Vyonne,

Thank you for these comments and sharing the impact of JS on your daughters and family. I think the JS Life database (http://www.jsrdf.org/JSLIFE) that we plan to use for this Mosaic project has a lot of information that will be helpful in understanding the social and emotional issues you discuss. There are questions about social growth and mental health concerns so that we can explore various social and emotional issues. If you/your daughters have not yet joined JS LIfe, please consider doing so to make sure their experience is respresented. Thank you

 

Joshua Bear's picture

Thank you for bringing up the topic of mental health and behavioral challenges, Vyonne. I agree with Vanessa — if the data are available to review the mental/emotional health challenges facing individuals with JS as well as perhaps what has been helpful, this could provide some guidance to caregivers and providers. 

Susan Friedman's picture

There seem to be alot of behavioral challenges with Joubert's. What I can deteremine and have observed over all of the long years is that, most of those behaviors come from sensory challenges inherent in the disorder, which occur across all settings (something in the environment etc. will set it off, or personal interactions and so forth). It also seems to be related to motor issues (of which there are many) mostly related to poor vision. My daughter could not walk until she was almost 3-1/2 yrs. old.  She kept falling down due to poor center of gravity, motor problems and of course her vision issues. These all add to behavior issues, compliance, communication etc. Even now, my daughter holds onto me when we are out in the community. She is not very sure of herself in "new" and "different" situations and this does cause alot of behavior.  In our case, it's very hard to know where her Autism begins and her Joubert ends - behaviors are so very similar and do have a crossover effect unfortunately. My daughter's eye doctor also made this observation - so it isn't just me.  Most of the time we end up sitting in the house, just because it's easier for my daughter to handle.....she knows her home environment and isn't afraid.This of course makes her life (and ours) very limiting. It would be great (as you mention) to have some guidance and assistance for parents so that, we can better assist our children.

Brian Sidella's picture

Vyonne,

What type of liver involvement and how was the diagnosis made?   Jouberts Syndrome has many offshoots one of which is COACH which our son Alex has.  His liver for year presented with elevated enzymes which we were told was of no real consequence.  We then had a liver biopsy done and was told he had bridging fibrosis.  The point to consider here is that in most kids with COACH specifically and a fibrotic liver, transplantation is usually not required.  That said the type of fibrosis leads to increase pressure in the portal vein which can cause life threatening bleeding varices.   It was through Dr. Heller at the NIH that we learned of the treatments such as the splenal renal shut surgery Alex had done last year by Dr. Tzakis (world renowned liver transplant surgeon at Cleveland Clinic in South Florida).  This surgery saved his live and right now at least all is well.  If your twins have fibrosis of the liver they need to be checked for esophageal varices and should likely be put on a beta blocker to prevent or reduce portal hypertension.  So much information and it can all be overwhelming...  For more info on COACH please click this link  http://www.omim.org/entry/216360

Vyonne Keller's picture

Hi Brian,

I have also talk with Dr. Heller and I have used the information that he gave me when talking to the Dr. that my daughters use.  Can you please tell me how old Alex is?  Thank you for your responce. Vyonne

Brian Sidella's picture

Yvonne,

Alex is 23 and we plan on attending the conference in Chicago.

Hannah Glass's picture

What type of healthcare providers and therapists are children and adults with Joubert seeing? Who are the essential team members (ie geneticist, neurologist, etc)?

Susan Friedman's picture

Geneticist, Neurologist, Gastroenterologist, PCP, Endocrinologist, Behaviorist, Opthalmologist, Optometrist Board Certified in Vision Therapy, Nephrologist, Infectious Disease Physician, OT, and PT. We've also worked with Psychologists, Psychiatrists, and have done Sensory Integration therapy, vision therapy, horseback riding, swimming, music therapy and biofeedback.

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