JS-LIFE Research Challenge

How does Joubert Syndrome impact individuals and families?

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

Ideas:

  • Is there more information needed about the type of symptoms that occur?
  • How do specific symptoms impact activities (e.g. educational, social, work)?

Comments

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Carin Sutton's picture

For our family our son was diagnosed at eight months old and the biggest concern or question I guess is what's next. It's such a large spectrum based syndrome we really have no idea what to expect as he grows and progresses it would be nice to have kind of a general idea of what is ahead of us. Or what is "notmal" for our JS kids. 

Helen Seth's picture

That's a big question for us too - I think it's natural as a parent to want to know wht is coming for our kids and how best to support/prepare them for the skills they will need to meet challenges head on, however it seems such a hard one to answer though. We have 2 children (4 and 6)with JS and even their 'normal' is different from each other.

Maura Ruzhnikov's picture

There are a couple of posts here asking about the spectrum of disease, or range of what is "normal" for JS kids, which is definitely information we should be able to pull together with a research study.

What are the the "outcomes" you wonder about most? For example, health concerns (seizures, breathing problems, kidney disease) versus more functional outcomes (achievement in school, motor skills, social skills)?

Melissa Asman's picture

I think this depends on the penetrance of the disease. the most severe cases are discovered at birth or before and health outcomes are probably most desired. Milder cases are more interested in functional outcomes, i.e. will my child ever be independent

 

Scott Haynie's picture

Yes. Questions I would love to see answered in a study/survey:

* Milestones. % of JS kids who talk, walk, potty-train, read/write, go to schools with typically-developed kids, then more long-term: drive, go to college, live independently, develop long-lasting relationships?  And at what age do these things happen?  Just having a more controlled study of this would help parents like us immensely in preparing for the future and not just live day-by-day.

* Life expectancy. Tough topic, but more data on this would be helpful too.  How long do JS kids live? Would love to see percentiles at certain ages: 5, 10, 20, 30, 40+

* Where do JS kids/parents live? Ideally would love to see a map with pins to show where we all are (doesn't have to be exact address, city woud be fine)

* What therapies do JS parents enroll their kids in?  Not so much for the "usuals" like PT,OT,speech,vision, but for more experimental therapies such as music, water, horse, etc. Would be nice to know how many kids are enrolled in those, and whether they feel they've been "successful".

 

Matthew Smith's picture

Hi Scott,

Great questions, and thank you so much for taking part in JS-LIFE and Mosaic!

We will absolutely be able to develop studies for milestones and therapies, and using the information in JS-LIFE, we should be able to answer each of these at the deeper levels of meaning that you lay out if  enough people answered those questions.

Life expectancy is not only a tough topic, it is a tough study due to limited information. The more people that enter that information in JS-LIFE, the more we will know, underscoring the importance of the project. The low age range that we currently know of (very loosely in our family database) is most likely due to a.) the smaller number of properly diagnosed individuals and b.) the fact that the JSRDF must be notified of their age/diagnosis in order to be able to summarize and report it. Diagnosis prior to the early 1990's was very difficult without the use of the MRI. Being that was 25 years ago, there may be many adults over the age of 25 who are misdiagnosed or undiagnosed. Of course the evolution of resources and technology available for proper diagnosis has increased over the years, and with a powerful tool such as JS-LIFE in our hands, we hope that the data in JS-LIFE will show us much more on this topic. In the meantime, the low number of adults identified as having JSRDs should not be interpreted as limiting life expectancy.

* Where do JS kids/parents live? This is a great idea that the foundation has always wanted to do! We recently played around with a Google map of known cases, and the challenge is that those maps have to be loaded manually and updated constantly. It would be wonderful if we could find and seek grant funding to have a map API that would automatically update when someone allows their location (city/ country) to be shared in JS-LIFE.

Maura Ruzhnikov's picture

Hi Scott, 

 

I agree with Matt that a milestones study is certiainly attainable! Depending on how many older participants there are in the database this could be especially helpful in framing long-term expectations for families. 

 

I also think looking in to what services families have found most useful would be helfpul; although not always available I know clinically unless the provider knows about local services things like aquatic and hippotherapy can often be missed! 

Dean Suhr's picture

It seems that a  genotype/phenotype study would be a great project.  A quick trip to the NLM told me "Mutations in the 10 genes known to be associated with Joubert syndrome and related disorders only account for about half of all cases of these conditions. In the remaining cases, the genetic cause is unknown."

This sort of correlaiton is something we are looking at in our disease to provide one avenue for a guess as to what's next.  

Brett Elliott's picture

Yes dean I agree however this has been problematic thusfar, for example, the information you pulled up is slightly out of date, there are now approximately 27 known genes, still accounting for approximately 50% of cases.  However with the rarity of this syndrome, and being spread among so many genes, and the spectrum not having a 1:1 correlation to the genotype, finding a large enough cohort to extract any useful information from on specific genes, has been a serious struggle. This is something I am really hopeful that JS-Life will eventually accomplish, but I don't think it is there yet.  Most attempts at genotype phenotype correlations in JS have tried using cohorts of 50-100 JS patients, with the largest cohort I am aware of being around 500 families which still leaves some of the rarer genes with only a single case or none at all to look at.  

Dean Suhr's picture

Patient powered research (JS Life) is the ideal place/method to gather more data and whittle away at this information gap.  There is nothing wrong with identifying the more common mutations and their typical phenotypes.  Sure, the rarer genotype correlations will take longer to understand, but this is not an all or nothing game.  Imagine how many could beenfit if you could have some sort of answer just for the most common 2 or 3 mutations?  That's powerful for families and focusing for researchers.  And success begets more success - other families will be more encouraged to participate and contribute more fully when they see results from these projects, even results that do not directly fit their case. 

As an aside ... this MOSAIC framework, during this query/discussion phase, is about creative ideas. I have been asked to jump in here not because of any particular Joubert interest, rather I'm here as an outsider who wants the platform to mature so it can be used in our specific disease (or perhpas in some shared space - and interestingly strudying and identifying genotype/phenotye corelations have a lot of shared process across diseases, even though the genes and progression are different).

I think it's very important for everyone here to ecourage ideas and discussion ... there are no wrong ideas.  The next step, after a lot of patient and researcher ideas are on the table, is to see what's possible today, what might be possible tomorrow, and to set priorities.  When the difficulty in studying ideas is introduced at this phase a certain (I suspect large) number of your potential patient MOSIAC participants will feel that they do not know enough to suggest a new idea and will not suggest an idea or share their thoughts out of fear of being shot down.  

Let's keep very open minds and encourage the crazy ones ...

Here's to the crazy ones, the misfits, the rebels, the troublemakers, the round pegs in the square holes... the ones who see things differently -- they're not fond of rules... You can quote them, disagree with them, glorify or vilify them, but the only thing you can't do is ignore them because they change things... they push the human race forward, and while some may see them as the crazy ones, we see genius, because the ones who are crazy enough to think that they can change the world, are the ones who do.

Steve Jobs  – US computer engineer & industrialist (1955 - 2011) 

Brett Elliott's picture

Absolutely couldn't agree more, my comment was not intended to discourage, only stating my observations of the hurtles we face so far with Joubert syndrome in particular.   for me personally, jS-Life represents the answer to those problems, the possibility of finally being able to gather a comprehensive  database that can give us those genotype phenotype correlations once and for all. I feel that is the utmost important goal we seek.  

Brett Elliott's picture

For us, my daughter wasn't diagnosed until about 6 months, and there weren't many answers as to what to expect.  There was also confusion amongst her doctors because a Joubert syndrome diagnosis didn't seem to explain her congenital heart defect or cleft lip and palate.  Information linking heart and laterality defects to Joubert syndrome related genes is just now beginning to surface, I personally would like to see more definitive info on that link.

Helen Seth's picture

When Joubert Syndrome was first mentioned to us as a possible we were really skeptical as our daughter (son was still a tiny baby with no apparent issues at this point) didn't seem to fit into any of the major areas listed as indicators on any of the web based stuff I looked up. What was available to us at the time was very negative and very health based (respiritory as early indicator etc) and we've been lucky enough not to fit that mould. Before you know what you are dealing with and do all the research (like you Brett, I'm a reader!) the nature of the spectrum aspect can be unclear. We were just lucky to get a paediatrician who had seen JS before or it would have taken much longer to diagnose.

Maura Ruzhnikov's picture

It seems it will be important to link those families with clinical genetic results available to their clincial phenotype. Depending on the number of families with the same or similar genetic changes there are that can be grouped together, this may be something we could study further from our current database. For example, are there several families with a child who also has a cleft lip and palate? If so, do they have other similar features? And do they have the same or a similar gene mutation? 

Matthew Smith's picture

That would be a great study, Brett, with enough data in JS-LIFE. It's an area that researchers have not yet explored, as you know. In the present JS-LIFE database, there are 5 who report heart defect of 99 that completed the question and 3/30 who answered for cleft lip/palate. We could look to see if there are any correlations to the variety of other clinical features and genotypes, and treatments and therapies that address them in this subset.

Dana Knutzen's picture

What health-related issue has had the greatest impact on the day-to-day life of a child with JS and their family?  (i.e.: vision or hearing concerns, kidney or liver disease, associated birth defects like heart defects).

Susan Friedman's picture

My daughter was 17 yrs. old a the time of diagnosis and, had less than two months to live. An emergency kidney transplant was needed. This was surprising and gut wrenching for our family to endure.  She was initially diagnosed at the age of 3 with Joubert Syndrome (she has Joubert-Nephronophthisis) by two reputable hospitals but, no one followed through with any medical intervention. All her physician's did was to argue that she didn't have this disorder because it was just "too rare". The MRI clearly shows Molar Tooth Sign. Early medical intervention would have gotten her kidney disease diagnosed much sooner and would have prevented alot of pain and suffering in the longrun. My daughter DID have all of the warning signs of kidney failure. We can only assume that, due to the nature of her disease and the complexity of it, no one wanted to take her as a patient and just preferred to let her "expire".  We were actually told this by several hospitals as well as well known physicians, after the initial diagnosis of Joubert-Nephronophthisis.  It's shameful and horrid to treat any family in this manner.

This disorder limits what individuals can or cannot do.  Because there are so many variants of the disorder, it's somewhat like Autism (which my daughter is also diagnosed with).  This makes treatment, accommodation and services more challenging as, you are confronted with two distinct yet similar disorders which require very similar treatment and long term care. It most definately affects their ability to be social, independent, or be able to advocate for themselves for so many reasons. 

The disorder causes motor planning issues, visual issues, behavioral issues and learning disabilities. It also greatly affects the ability to sense and, this in itself is daunting to deal with. This is especially so in my daughter's case as, she also has Autism which brings with it similar issues.

Some individuals are not as affected as others might be.  The chief problem is the fact that, vision and motor problems greatly affect learning across all settings and in every situation and, must be addressed continually and in an appropriate manner for the individual to make any gains to have a somewhat "normal" life.

Most if not all schools systems, therapists and physicians don't want to "work that hard" or "work continually" assisting individuals with these disorders - it's just too daunting and complex for them to "handle".  This leaves parents and caregivers no options. When my daughter was in school, all my husband and I did was argue continuously with the school districts my daughter had been in.  They simply did NOT want to hear how to assist her or, what interventions, accommodations or services would work for her specifically.  They should have listened as, IEP (Individual Education Plans) are meant to be individual. Sadly, they are NOT.  This is primarily due to funding issues and the willingness of those school districts to "do the right thing" for those students.

It really doesn't have to be all about money.  We were willing to "think outside of the box" and work along side the school districts but, they did not want to do this for our daughter or anyone else for that matter. There is a total lack of understanding of this disorder and interventions needed to assist the individual long term.  All school districts want to do is, to place these individuals into group homes or insitutions and walk away from them.  It's easier that way.

Parents and/or caregivers have to spend hours and hours working with the individual(s) affected and this, causes a poor quality of life for all concerned.  Vacations have become a thing of the past and, most individuals remain at home with parents and/or caregivers due to a "lack" of proper facilities and/or independent home situations. This has really taken a large toll on our family as, my husband and I are alot older than our daughter (we are in our 60's). We have no family and our daughter has no other sibilings to assist with her care.

Most States are simply "not equipted" or "have the funds" to support individuals such as this.  The vast majority of them either end up in group homes or nursing homes. They have become "throw away people". Quality of life issues are rampant and many individuals end up dead - especially a person like my daughter, who reqiures medical care 24/7 due to her kidney transplant. Again, we can only assume this is because it's a "bit too much" for most individuals to handle or want to become involved with.

 

Vanessa Jacoby's picture

Hi Susan,

Thank you for posting and sharing all of the challenges that you are your family have been through. From you expertise and experience in the care of your daughter, what do you think are some of the most important unanswered questions or issues that need to be addressed through research to help improve the issues that you bring up? That is, if a research study was conducted on JS and someone was sharing the results with you, what information would you be most happy to hear had been discovered in that research?

Thank you again for sharing with this group

Susan Friedman's picture

Hi Vanessa.  Sorry, I've been off of this site for a while but, wanted to answer your question. I am not certain that research can address everyday issues for kids like ours.  They need interventions continuously. Perhaps OT's, PT's, Physicians, Optometrists/Ophthalmologists, Chiropractors, Physiatrists, or anyone involved within the medical community for that matter, needs to be trained or at the very least "edcuated" to address the needs of those with Jourbert Syndrome and it's related disorders. 

I remember when Autism first came to the fore, no one knew how to diagnose, much less how to treat this. Now look at all of the interventions, supports and early diagnosis involved with this.  Sadly, it's the same with Joubert Syndrome - it's going to take years to get to the point where Autism now is. Autism was once considered "rare" and most physician's were scared of this too. They didn't know how to treat it, much less diagnose it.

The vast majority of physician's out there have heard of Joubert Syndrome but, refuse to educate themselves on how to treat it or support their patients with it in any way.  This is because the vast majority of physician's out there (at least in my experience), all believe that all patients that are diagnosed with Joubert Syndrome have a short life span and no quality of life. Our family was even told to let our daughter "expire" that, we would be doing her a large favor.

Physician's and therapists are constantly going for continuing education courses within their realm of study. The information related to Joubert Syndrome needs to be added to this continuing course of study. Proper knowledge is everything. When you think about this, Joubert Syndrome affects so many body systems that it's mind boggling.  There are motor issues, visual issues, behavioral issues and on and on it goes.

Surely, with everything else that's out there and has come to prominence, this disorder should also be addressed.  I am frustrated every single day and especially when my daughter has a medical issue.  More physician's shy away from us, simply because they feel that the "don't know what to do" or "how to treat an illness" in an individual with Joubert Syndrome. Specifically - our daughter's kidney transplant has made her medical treatment very challenging. There has been much stigma associated with this diagnosis...much like the HIV diagnosis has been. In both cases, interventions are key in assisting individuals reach a better quality of life.

You should also know that we finally received a definitive diagnosis for our daughter, after 25 very long years of waiting and waiting. Our daughter had been in one study after another but unfortunately, none of those studies ever share their results with parents. It's important to do research (as has been done to discover all 25 genes) however, for families and the individuals affected by Joubert Syndrome, everyday supports and interventions are more important to give that individual a good quality of life.  We are still searching for that, as I am more than sure other families are.

Hope this answers your question?

Elly Hanna Novianna's picture

my daughter was diagnosed  with JS last year (when she was 4) after last MRI. before the diagnosis was Dandy walker. she has liver fibrosis, esophagus varices, portal hypertention and splenomegali. I think I need more information about liver fibrosis and what can I expect after 2 times bleeding episodes. Should we do gastroscopy every 3 months to treat the varices for the rest of her live? is there any special diet to calm the varices? Is there any treatment option for her liver fibrosis? is there any corelation between fever and bleeding (both of her bleeding was start with few days fever)?

 

Maura Ruzhnikov's picture

Elly, this brings up a good question regarding what medical complications (either expected or unexpected in JS related diseases) families have dealt with most often? Asking this may help us gather more infomration about the less common associated features of JS like your daughter's liver disease. 

Scott Haynie's picture

One area that has been very nebulous with our 2-yr-old so far has been with vision. Nolan has OMA, strabismus (cross-eyes), amblyopia (lazy left eye), and ptosis (drooping eyelid).  We have gone through several attempts at treatment for the strabismus/amblyopia (eye patch, eye glasses, and now atropine drops).  At each step it seems doctor is just fishing for answers, and making comments like "most kids with JS end up getting surgery anyway".

So questions could be: What kind of vision problems have JS families encountered? What treatments have been used, and have they been successful? How many have had to undergo eye surgery?

Susan Friedman's picture

Hi Scott. I thought that I would share my experience with you regarding vision and Joubert's Syndrome.  My daughter was born prematurely and had strabismus and then later on amblyopia.  Because she was so premature, the eye doctor could not straighten out her eyes until age 16 months.  That operation was very successful however, he warned us that she could develop lazy eye.....she did.  We had to do patching etc. and then, a second eye surgery was performed.  I was living in Cleveland, Ohio at the time and, our Ophthalmologist was at the Cleveland Clinic.  I believe he is still there and is a wonderful surgeon...extremely knowledgable. 

The one drawback from all of this was the fact that, years later (although my daughter's eyes were straight) she still was not seeing normally and we DIDN'T know!!!!!!  Her vision tests would always say she had 20/20 vision.  This is visual acuity only....that is to say, the sharpness of vision but not actual vision. You see with your brain and not your eyes. Most people DON'T understand that.

Individuals with Joubert have varying degress of visual issues.  To make a very long story shorter.  In 2010, one year after my daughter's kidney transplant (she has Joubert-Nephronophthisis), my husband and I decided we needed to see an Ophthalmologist.  She had been tilting her head to see for years and years and, it was causing many issues.  What most of her physician's diagnosed her with was a midline problem. What we found out was, my daughter needed to go for vision therapy....she could not see appropriately.  This obviously was affecting her motor issues (which were already affected) as well as behaviors and set her up for severe learning disabilities.

We were referred to an Optometrist (yes that's right and Optometrist) for Vision Therapy.  Ophthalmologists DO NOT provide this type of intervention. The individual we saw has a small practice that works mostly with younger children however, some teens and older adults go there as well for treatment.  Optometrist that have heen educated in Developmental Vision issues are the correct people to see.  They have the initials FCVOD after their names.  That stands for: Fellow of the College of Optometrists in Vision Development. I would highly recommend going to see one of these individuals. This therapy was highly successful for my daughter.  When we began she did not have binocular vision (wasn't able to use both eyes together).  She still has some issues such as: Lack of 3-D vision, very little peripheral vision, convergence issues still remain, comittant strabismus and Exotropia, tracking issues and on and on it goes. This is the Joubert causing all of this however, the vision therapy did help so much and she is quite a different person. Also interesting to note, my daughter no longer tilts her head to see.

We also worked in conjunction with a very large eye center here in Florida (it's actually in Miami) and called: Bascom Palmer Eye Institute.  They are marvelous there and can also diagnose various types of eye issues and recommend interventions.  Bascom Palmer is #1 in the United States. Our eye doctor there worked directly with our Optometrist, which is something I would recommend when you are pursuing treatment.  Both of them in turn, got involved with my daughter's high school programming (IEP) and this too helped greatly with interventions and accommodations at school.

Hope that this helps?

 

Maura Ruzhnikov's picture

Scott I really like the questions you outlined here regarding vision problems in JS. This may require some additional questions to families who indicated vision problems in the database but may not have provided as much detail to be able to answer all of the questions; but is something we should look into!

Louise Dove's picture

A vision study would be beneficial to us as well. My son was diagnosed with Retinitis Pigmentosa. He was also diagnosed with Ocular Motor Apraxia when he was an infant. The issue is we don't know how a child with JS is going to progress in RP. There is a theory that his retinas aren't degenerating but that they never formed completely. No one seems to be able to tell us anything. From the research I have done I have seen it mentioned that JS does have retinal involvement but there isn't much out there. It would be great if we could explore this aspect.

Karen Tompkins's picture

If a person with JS has received early intervention strategies, do they hit milestones earlier than the average person with JS?  This would be a very difficult query to explore: there is such a spectrum of abilities and so many variables with "early intervention strategies".  Even so, increased insurance coverage (money) may be attached to the answer.

Maura Ruzhnikov's picture

This is great Karen, and actually ties in to some of the comments above about looking at milestones acheived across diiferent ages in the database-- if we correlate this with services being received we may be able to tease out the degree of benefit; at least in terms of services versus no services, or more specifically, something like PT only vs PT, OT and additional services, or something along those lines!  

Susan Friedman's picture

I just wanted to pose one last question.  How do other individuals cope with all of the behavioral issues associated with Joubert's?? It seems to go hand in hand with sensory issues and, there are a whole host of them. I do realize there are many more symptoms associated with this disorder however, just wondered if any research has been done in this area? Also very important, most seem to have severe gastrointestinal and digestive issues. Metabolizing food etc. doesn't seem to work the same. Perhaps all of these are related somehow?

Maura Ruzhnikov's picture

The inquiry about behavioral problems and how families cope/ services used and diagnoses given was brought up in another thread and is certainly something we believe we have information about in our database to help provide some insight! I do think the more subtle medical "complications" (rather than liver disease, pulmonary disease, etc) such as GI dysmotility and nutritional deficienies are important-- this comes up in many disease in which the brain is affected, some more than others; it would be interesting to see how often and in what way Joubert families are dealing with these issues as you suggest.

Abby Robbins's picture

What is the other thread that behaviors have been brought up. Have there been any studies completed that the information would be public? My daughter has has self aggressive behaviors before and is now more outward aggression towards adults in the school setting. The school is needing me to provide said documentation, although I have given multiple articles, they are asking for percentages and if behaviors are more self or other. I would just like to see any other information on JS and behaviors.! 

Karen Tompkins's picture

Many families have wanted quantitative data on the correlation between JS and negative behaviours, including aggression.  Although this is not being studied at this moment, it could definitely be put forward to be considered for a future investigation.

There have not been any studies on JS and aggression specifically that I know of at this time.  It seems odd that the school needs actual documentation/percentages.  Feel free to contact me privately to discuss this further.

In the meantime, you might want to look into aggression and sensory processing disorders.  There may be some useful info/stats there that you can use as a starting point.

 

Louise Dove's picture

What about something from the academic/ mental aspect of JS?  My son Zak struggles in schools, but isn't low enough to fall into the academic deficiency category.  I have heard all year that my son is lazy he just doesn't want to do the work.  He isn't lazy he just didn't understand.  He processes things differently, but how exactly is unknown.  We aren't sure how to help him in school.    

Susan Friedman's picture

It really depends of the severity of the disease and how the symptoms manifest. Early diagnosis is key to a better outcome over time.  Because each individual is so very different, it makes supports, interventions etc. very challenging and sometimes very difficult.  I would definately say that, because there is so little known about this disease in the medical community(at least this has been my experience), physicians tend to shy away from these individuals and don't want them as patients. This is mainly due to the overwhelming amount of assistance that is needed on a continual basis as well as, a lack of understanding about this disease and how differently it presents itself in every individual. 

Leon Scott's picture

My son has been diagnosed with Jouberts syndrome at 6 months of age.  His cerebellum was a little bit underdeveloped(molar tooth image)  He has vision problems but he can see. He also has low muscle tone development.  We just started therapy yesterday with an OT and a PT. Its shocking to us because this syndrome is so rare that our own pediatrician didn't notice he was having issues and never heard of the syndrome in her 20 years of practice.  I've been doing research myself and there is not much information.  I need help. Is my child going to have a normal independent life? Is there anyone out there that has this syndrome,  successfully living a "normal" life? What should I expect? 

Brett Elliott's picture

Welcome to the journey Leon,  it is not uncommon for doctors to be unfamiliar with the syndrome as it is very rare.  If you are on Facebook I encourage you to search for the group JS Parents,  there are literally hundreds of families who are in the same situation as you or have been at one point in time. Joubert syndrome has a wide spectrum of severity but there are many who do just fine,  and many others who prove that the definition of "fine" isn't what you originally thought it was, but that is a journey of acceptance for you to walk and learn for yourself.  Please reach out to the Facebook group and find us, there is a whole community of us willing to share our journey.  :)

Brian Sidella's picture

Leon... Please know that you are not alone...  While rare there are parents, hundreds of them that have gone from the shock of learning about Jouberts and related syndromes to learning how to deal, live and thrive with it.  There are quite a few variabilities with Jouberts and also subsets like Coach Syndrome which is what our son has.  What I'd recommend doing is to make sure you have a proper diagnosis so you will be more aware of what to expect and look out for.  Thankfully there is a lot more info available to day than there was 24 years ago.   Please post where you live as maybe someone on this board knows some doctors in your area.

Lindsey's picture

Hi Brian,

I am hoping you could tell me more about COACH syndrome as we are awaiting genetic testing on my 4 month old son to confirm if this is what he has.  He has colobomas in both eyes, and I am terrified of liver and kidney impairment.  I have no idea what to expect with this condition.  Can you please give me info on when the person you care for was diagnosed, what therapies did you do, and what I can do to be proactive and advocate for my son for any additional therapies? Thank you, I am completely overwhelmed and looking for any information possible that can help him since he is so young.

Brian Sidella's picture

Lindsey,

I understand how you are feeling.  Back when Alex was being misdiagnoised over and over and over again, I was the one who put together search strings and read a paper out of Milan Itlay in which we first learned of the term COACH Syndrome.  As you would suspect and much lke Joubert's Syndrome the spectrum on the severity can vary greatly.   Therapies should begin ASAP.  Many COACH kids need speech, occupational and physical therapies and do very well especially if done early.   I think your first order of business is to find someone to run the test, both genetic and MRI from which to make a proper diagnosis.   Our son Alex required a spenal renal shunt 18 months ago but is doing very well post procedure.   COACH kids in general have Colobomas, speech apraxia, fibrotic livers, occular motor disfunction and may also have renal involvement but that's not as common.  The most worrisome aspect is monitoring liver function through blood test and looking out for esophigial bleeding which did not happen in Alex until he was 23 years old.   Please know that a fibrotic liver is not a cirrotic liver and it's thought that once the portal vein hypertension was relieved with Alex's surgery that he may never need a liver transplant.   Please let me know if you have any other questions and my personal email is bsidella@bellsouth.net

Vyonne Keller's picture

Hi Leon,

I'm sorry to here about your son.  I wanted to let you know that I have 31 year old identical twins that have JS and with a lot of help they do live on their own.  I did not find out until they were 27 years old that they had JS.  At birth they had the same symptoms that your son has,  now that they are older they have more pyisical problems and a lot of emotional problems.  It is very hard to find a Dr. that does know about JS here also (Denver).  Good luck with your son. Vyonne 

Susan Friedman's picture

Wanted to ask a question that no one can seem to answer.  Our daughter has been having issues (suddenly) with pain in her hips, legs and feet. She has walked with a wide based gait for a number of years now and, it has gotten wider in the past year and a half.  She has been complaining of severe pain and doesn't want to walk. We took her to see several specialists and were told that she has Plantar Fasciitis, deformed large toes and one leg is shorter than the other. She has been wearing orthodics for years but, they don't seem to help at all.

We were told that all of these symptoms could be Hip Displasia.as both legs are externally rotated out.  Is this part of the Joubert Syndrome diagnosis?  If it is, I wish someone would have told us about this years ago as, it's been horrid having to deal with it. Just trying to find an Orthopedic physician has been nightmarish. Would love to hear if other families are dealing with this too.

Brett Elliott's picture

I wouldn't say it is part of Joubert syndrome per say,  it would be more a risk of having a child with low muscle tone in general and adaptive behavior (I.e. An alternative walking pattern due to balance issues etc.