Blog about a lady born with only one eye and her daughter who has no eyes, She says in 2009 that she believes they will find a genetic link
http://www.adeleseyes.org/story.html
30 year old mother and her 15 month old son, both with PHPV
http://www.ncbi.nlm.nih.gov/pubmed/2377350
same again
http://www.deepdyve.com/lp/taylor-francis/persistent-hyperplastic-primary-vitreous-with-vertical-transmission-WWdP2fd7n2
Page 273 suggests it is heritable (no, I didn't read the whole thing, I just searched lol)
http://memo.cgu.edu.tw/cgmj/2604/260405.pdf
Thursday, February 17, 2011
Genetic Testing
We had another appointment with Dr Lam today. It has been a hot topic on one of the forums I frequent - the question of genetic testing. I asked Dr Lam about it today, I was neither for or against it but wanted to get his views and opinion. He has obviously heard of the SOX2 gene, and has said that if we want to, he is happy to connect us with a geneticist who can test for it. This is an excerpt from a forum about micropthalmia that covers some of the information about this testing:
One of the most alarming obstacles to getting Anopthalima/Micropthalmia kids tested properly is that most geneticists have never heard of SOX2 and other similar, recently discovered mutations and thus do not know about specific genetic causes of A/M. They simply do not know that such testing exists. Therefore, they are not testing for the right things.
I, too, had testing for genetic duplications and deletions; this is known as 'Micro-Array' or CGH (Comparative Genomic Hybridization) testing. Anyone who has this testing is taking a step in the right direction. But it's not enough. With greater research into the specific genetic causes of A/M and coloboma, the phrase 'genetic testing' is no longer an assurance. Testing done more than 5 years ago could not have included the new tests for mutations in the SOX2 and other genes because they weren't discovered yet. Geneticists have to know what to look for, and most don't. While my toddler Hillel's micro-array testing came out 'normal', he later tested positive for the SOX2 mutation.
This is from the website of ICAN, the International Children's Anophthalmia Network (www.anophthalmia.org). Note shaded sections:
SOX2 Gene: This gene was identified several years ago by researchers in England. Changes (mutations) in this gene have been found in about 15% of individuals with anophthalmia/microphthalmia. Typically an individuals has 2 working copies of this gene. If one copy is changed (mutated), it leads to anophthalmia/microphthalmia. Genetic testing is available for SOX2 and should be ordered on anyone with anophthalmia or microphthalmia.
And this:
It is NOT widely known to the public, or to doctors and even geneticists,
> that anophthalmia/microphthalmia (A/M) can have a genetic source -- my own
> geneticist at the prestigious Columbia-Presbyterian Hospital in New York was
> unaware of and thus did not suggest prenatal genetic testing for A/M-related
> issues. It is common for a pediatrician to tell distraught new parents of
> an A/M baby that the defect is a fluke. But A/M is much more common than
> even doctors realize, and in fact statistics show that the eyes are affected
> in 25% of genetic conditions. Thus there may be many people born with A/M
> who don't realize that they have a heritable condition. SOX2 is considered
> autosomal dominant, which means that even if only 1 parent has the
> condition, each child conceived by a couple has a 50% chance of having the
> syndrome. Knowledge of any genetic cause would therefore be of extreme
> interest to parents of any child with A/M not only for that child's sake but
> also for any other children the couple might have and any grandchildren they
> might see from the A/M child.
>
> I am writing to urge all parents of children with congenital A/M and/or
> coloboma to seek genetic testing. Since the SOX2 mutation was discovered
> only in the last decade, the urgency is not only for the sake of the
> undiagnosed individual, but for the very small group who has already been
> diagnosed: Among over 300 A/M cases who've been tested for SOX2 in a current
> research study, some 33 have tested positive -- that means that there are
> only 33 subjects to serve as precedents for my son. You can imagine how
> frustrating it is, as a parent, to have a child born with a condition shared
> by only a handful of documented cases; it is equally frustrating to know
> that there are thousands of people out there with genetic causes of A/M, but
> that it's so new that few neonatologists, pediatricians, or even
> ophthalmologists have even heard of it.
And this is a really great article:
http://www.news-medical.net/news/2006/05/16/17976.aspx
I know that's a lot of reading and I don't blame you for skipping it!
it does seem like there are two schools of thought, especially with PHPV. One that it's a fluke, the other that it's genetic. I would like to know for sure so that I can give all the information I possibly can to Joel so that when the time comes for him to settle down with an amazing, wonderful, gentle, girl (keep believing it!!) he can know if it is genetic and whether to be prepared for his children. It seems to be very, very rare, for two cases of micropthalmia to present in siblings, which is great news for us as we are expecting another baby in September! I really think that there's not much this next baby can throw at us that we won't be prepared and equipped to deal with after what we've been through with Joel.
At his check up today his eye looks good, still a bit inflamed so we are continuing with Maxidex drops 3 times a day instead of 2 hourly like we have been. Phew, that's a relief! It's hard going to remember to put drops in every two hours, and even harder to get Joel to let me do it. He is getting SO strong!
One of the most alarming obstacles to getting Anopthalima/Micropthalmia kids tested properly is that most geneticists have never heard of SOX2 and other similar, recently discovered mutations and thus do not know about specific genetic causes of A/M. They simply do not know that such testing exists. Therefore, they are not testing for the right things.
I, too, had testing for genetic duplications and deletions; this is known as 'Micro-Array' or CGH (Comparative Genomic Hybridization) testing. Anyone who has this testing is taking a step in the right direction. But it's not enough. With greater research into the specific genetic causes of A/M and coloboma, the phrase 'genetic testing' is no longer an assurance. Testing done more than 5 years ago could not have included the new tests for mutations in the SOX2 and other genes because they weren't discovered yet. Geneticists have to know what to look for, and most don't. While my toddler Hillel's micro-array testing came out 'normal', he later tested positive for the SOX2 mutation.
This is from the website of ICAN, the International Children's Anophthalmia Network (www.anophthalmia.org). Note shaded sections:
SOX2 Gene: This gene was identified several years ago by researchers in England. Changes (mutations) in this gene have been found in about 15% of individuals with anophthalmia/microphthalmia. Typically an individuals has 2 working copies of this gene. If one copy is changed (mutated), it leads to anophthalmia/microphthalmia. Genetic testing is available for SOX2 and should be ordered on anyone with anophthalmia or microphthalmia.
And this:
It is NOT widely known to the public, or to doctors and even geneticists,
> that anophthalmia/microphthalmia (A/M) can have a genetic source -- my own
> geneticist at the prestigious Columbia-Presbyterian Hospital in New York was
> unaware of and thus did not suggest prenatal genetic testing for A/M-related
> issues. It is common for a pediatrician to tell distraught new parents of
> an A/M baby that the defect is a fluke. But A/M is much more common than
> even doctors realize, and in fact statistics show that the eyes are affected
> in 25% of genetic conditions. Thus there may be many people born with A/M
> who don't realize that they have a heritable condition. SOX2 is considered
> autosomal dominant, which means that even if only 1 parent has the
> condition, each child conceived by a couple has a 50% chance of having the
> syndrome. Knowledge of any genetic cause would therefore be of extreme
> interest to parents of any child with A/M not only for that child's sake but
> also for any other children the couple might have and any grandchildren they
> might see from the A/M child.
>
> I am writing to urge all parents of children with congenital A/M and/or
> coloboma to seek genetic testing. Since the SOX2 mutation was discovered
> only in the last decade, the urgency is not only for the sake of the
> undiagnosed individual, but for the very small group who has already been
> diagnosed: Among over 300 A/M cases who've been tested for SOX2 in a current
> research study, some 33 have tested positive -- that means that there are
> only 33 subjects to serve as precedents for my son. You can imagine how
> frustrating it is, as a parent, to have a child born with a condition shared
> by only a handful of documented cases; it is equally frustrating to know
> that there are thousands of people out there with genetic causes of A/M, but
> that it's so new that few neonatologists, pediatricians, or even
> ophthalmologists have even heard of it.
And this is a really great article:
http://www.news-medical.net/news/2006/05/16/17976.aspx
I know that's a lot of reading and I don't blame you for skipping it!
it does seem like there are two schools of thought, especially with PHPV. One that it's a fluke, the other that it's genetic. I would like to know for sure so that I can give all the information I possibly can to Joel so that when the time comes for him to settle down with an amazing, wonderful, gentle, girl (keep believing it!!) he can know if it is genetic and whether to be prepared for his children. It seems to be very, very rare, for two cases of micropthalmia to present in siblings, which is great news for us as we are expecting another baby in September! I really think that there's not much this next baby can throw at us that we won't be prepared and equipped to deal with after what we've been through with Joel.
At his check up today his eye looks good, still a bit inflamed so we are continuing with Maxidex drops 3 times a day instead of 2 hourly like we have been. Phew, that's a relief! It's hard going to remember to put drops in every two hours, and even harder to get Joel to let me do it. He is getting SO strong!
Thursday, February 10, 2011
I've been googling...
I've found some more interesting websites for anyone who'd like to check them out:
This one has stories of micropthalmia and anopthalmia (micro is when one or both eye/s is abnormally small- as in Joel's case. Anopthalmia is the absence of eye/s)
http://www.goldbamboo.com/pictures-t3799.html
Another blog with some good links to visually disabled youtube videos
http://www.caitlyns-story.com/
Another blog - this little boy has a slight cleft lip also which just reinforces my belief that the two (PHPV and cleft lip/palate) are somehow connected. Very frustrating, makes me want to go to medical school to learn more! There's just not enough on the internet about it:
http://www.andbabymakes4.com/?p=428
Video of a vitrectomy and lensectomy in a person with PHPV (bit gory for anyone with a weak stomach)
http://www.youtube.com/watch?v=phradRutgOU
I've posted this before, it's Miss Utah who has PHPV and a prosthetic eye.
http://www.youtube.com/watch?v=3qwJ0MeTH2s
A lady who I know on facebook, her blog about her little boy:
http://williamseye.blogspot.com/
Another mum's blog, love the pictures on this one
http://jennsconstantramblings.blogspot.com/
Great informative website for the medical side of it and has some great pics of eyes:
http://www.images.missionforvisionusa.org/anatomy/2007/02/persistent-hyperplastic-primary.html
Another mum blog:
www.babydebenham.blogspot.com
This guy is a PO, specialising in retinal issues, here's a link to his blog post about genetic testing for PHPV:
http://kidsretina.blogspot.com/2010/12/genetic-testing-for-unilateral.html
and I think that's it for tonight, I'll do some more in the next few days.
This one has stories of micropthalmia and anopthalmia (micro is when one or both eye/s is abnormally small- as in Joel's case. Anopthalmia is the absence of eye/s)
http://www.goldbamboo.com/pictures-t3799.html
Another blog with some good links to visually disabled youtube videos
http://www.caitlyns-story.com/
Another blog - this little boy has a slight cleft lip also which just reinforces my belief that the two (PHPV and cleft lip/palate) are somehow connected. Very frustrating, makes me want to go to medical school to learn more! There's just not enough on the internet about it:
http://www.andbabymakes4.com/?p=428
Video of a vitrectomy and lensectomy in a person with PHPV (bit gory for anyone with a weak stomach)
http://www.youtube.com/watch?v=phradRutgOU
I've posted this before, it's Miss Utah who has PHPV and a prosthetic eye.
http://www.youtube.com/watch?v=3qwJ0MeTH2s
A lady who I know on facebook, her blog about her little boy:
http://williamseye.blogspot.com/
Another mum's blog, love the pictures on this one
http://jennsconstantramblings.blogspot.com/
Great informative website for the medical side of it and has some great pics of eyes:
http://www.images.missionforvisionusa.org/anatomy/2007/02/persistent-hyperplastic-primary.html
Another mum blog:
www.babydebenham.blogspot.com
This guy is a PO, specialising in retinal issues, here's a link to his blog post about genetic testing for PHPV:
http://kidsretina.blogspot.com/2010/12/genetic-testing-for-unilateral.html
and I think that's it for tonight, I'll do some more in the next few days.
Friday, January 28, 2011
Appointment to check up on pressure, bleeding etc
We had our appointment today to check up on how his eye is going with the drops. It definitely looks better and Dr Lam had a really good look in there and took the pressure and everything is great. Pressure is normal, ulcer is pretty much gone, bleeding seems to have calmed down a bit and the redness is gone. He's not rubbing it as much as he was before either.
Something I learned today - for all the parents putting drops in their kids eyes, Dr Lam said that even though they may rub their eyes after putting the drops in, the drops are designed to be absorbed fairly quickly so even if it seems like not much is getting in there, it is, and just rest assured they should be doing their job.
We have to go back again in 3 weeks for another check up then after that we are all set to get his shell. Very exciting.
Something I learned today - for all the parents putting drops in their kids eyes, Dr Lam said that even though they may rub their eyes after putting the drops in, the drops are designed to be absorbed fairly quickly so even if it seems like not much is getting in there, it is, and just rest assured they should be doing their job.
We have to go back again in 3 weeks for another check up then after that we are all set to get his shell. Very exciting.
Sunday, January 23, 2011
His eye is getting better
The drops are definitely working, the redness has gone down heaps and he's stopped rubbing it.
I've just added some more pictures of him today.
I've just added some more pictures of him today.
Thursday, January 13, 2011
Our last appointment with the surgeon today
I've just come home from our last appointment with Joel's Opthamologist. This is the private appointment I have been waiting for for the last 3 months.
Joel's eye has been red and swollen shut for 3 days, I've taken him to the GP and they prescribed Chlorsig (which I never filled because I know it's not an infection). It was amazing timing that this week has been a particularly "bad eye week", I will upload some photos when he wakes up but it is very similar to the pics I took in September. Today, the surgeon had a really good look in his eye (well as good a look as you can get with a squirming one year old - that's right - he's 1! Yesterday was his birthday, his party is tomorrow). I had to hold his arms across his chest and his head squashed into my body while Dr Lam used the magnifier to look right into his eye, all the while Joel just scream and screams. The screaming doesn't upset me anymore, it's something that has to be done and it is for his benefit to get as good a look into that eye as possible. His last operation was to drain the hyphema (blood filled eye) but it looks like his eye has heamorraged again and is full of blood once more. This is causing the pressure to rise and he is contantly rubbing it and it weeps. A lot. We have him outside by the pool with us and 10 minutes later his eye is tearing up and weeping. It is just so light sensitive. Dr Lam agreed Chlorsig wouldn't help and has prescribed us some steroid drops for the eye, so I will start him on those 4 times a day.
I did speak to Dr Lam about the prosthetic and he was extremely helpful. He is pleased that we have come through his private rooms as it takes the pressure off the public system. I am really disappointed in myself for not doing it before. Dr Lam has said that if Geelen (ocularists who will make Joel's new eye) can't get a good, proper mould of the eye that he (Dr Lam) is happy to do an EUA (Examination under Anethesia) to get a perfect mould of the eye and also test the pressure. This will give Dr Lam a chance to have a proper look, to really see what is going on with the eye, so that any indicators of it having to be removed down the track can be identified. His pressure today was very high, but Dr Lam puts a portion of that high figure down to Joel screaming and resisting while we were holding him trying to get a good reading.
This is a great blog about a lady whose 4 year old son has what Joel has, his eye was removed today:
http://jennsconstantramblings.blogspot.com/
So, all in all, a good outcome. I am pleased that I know he has more heamoragging and that we can treat it and make him more comfortable. It still breaks my heart that he goes through all of this, I always wonder what would have happened if we never did the surgery on him, but what's done is done and I know that as his mum Idid do what I really thought was the best thing for him. I am happy that Dr Lam has offered to do the EUA, he has also said that we should go straight for the glass eye and not try to paint over Joel's old contact lens. I just need to make the appointment with Geelen and get that happening. Dr Lam wants to see us in 2 weeks, our next appointment is Friday 28th January.
Thanks for reading and caring about Joel. He took his first step in Dr Lam's office this morning too :-)
Joel's eye has been red and swollen shut for 3 days, I've taken him to the GP and they prescribed Chlorsig (which I never filled because I know it's not an infection). It was amazing timing that this week has been a particularly "bad eye week", I will upload some photos when he wakes up but it is very similar to the pics I took in September. Today, the surgeon had a really good look in his eye (well as good a look as you can get with a squirming one year old - that's right - he's 1! Yesterday was his birthday, his party is tomorrow). I had to hold his arms across his chest and his head squashed into my body while Dr Lam used the magnifier to look right into his eye, all the while Joel just scream and screams. The screaming doesn't upset me anymore, it's something that has to be done and it is for his benefit to get as good a look into that eye as possible. His last operation was to drain the hyphema (blood filled eye) but it looks like his eye has heamorraged again and is full of blood once more. This is causing the pressure to rise and he is contantly rubbing it and it weeps. A lot. We have him outside by the pool with us and 10 minutes later his eye is tearing up and weeping. It is just so light sensitive. Dr Lam agreed Chlorsig wouldn't help and has prescribed us some steroid drops for the eye, so I will start him on those 4 times a day.
I did speak to Dr Lam about the prosthetic and he was extremely helpful. He is pleased that we have come through his private rooms as it takes the pressure off the public system. I am really disappointed in myself for not doing it before. Dr Lam has said that if Geelen (ocularists who will make Joel's new eye) can't get a good, proper mould of the eye that he (Dr Lam) is happy to do an EUA (Examination under Anethesia) to get a perfect mould of the eye and also test the pressure. This will give Dr Lam a chance to have a proper look, to really see what is going on with the eye, so that any indicators of it having to be removed down the track can be identified. His pressure today was very high, but Dr Lam puts a portion of that high figure down to Joel screaming and resisting while we were holding him trying to get a good reading.
This is a great blog about a lady whose 4 year old son has what Joel has, his eye was removed today:
http://jennsconstantramblings.blogspot.com/
So, all in all, a good outcome. I am pleased that I know he has more heamoragging and that we can treat it and make him more comfortable. It still breaks my heart that he goes through all of this, I always wonder what would have happened if we never did the surgery on him, but what's done is done and I know that as his mum Idid do what I really thought was the best thing for him. I am happy that Dr Lam has offered to do the EUA, he has also said that we should go straight for the glass eye and not try to paint over Joel's old contact lens. I just need to make the appointment with Geelen and get that happening. Dr Lam wants to see us in 2 weeks, our next appointment is Friday 28th January.
Thanks for reading and caring about Joel. He took his first step in Dr Lam's office this morning too :-)
Subscribe to:
Posts (Atom)