A blog about having a child with PHPV or PFVS

A blog about having a child with PHPV or PFVS

Persistent Hyperplastic Primary Vitreous

also known as

Persistent Fetal Vasculature Syndrome

and micropthalmia (small eye)

Our experiences with 3 surgeries, 2 EUA's, patching, contact lenses, scleral shells, prosthetic eyes, emotions, places to get support, links to other sites and general info on vision impairment. I really hope my blog helps and educates and I would love to hear from you with any questions you have, or even if you just need to talk to someone who has "been there, done that".


Perth, Western Australia

Wednesday, November 9, 2011

It's been so long!

Joel broke our laptop so I've not been able to post as much as I would like to. Thanks to everyone who has messaged me to see how he is doing, he's great and it's really appreciated!

Since my last entry, I have had another baby. Her name is Imogen and she is just a delight. Joel wasn't very taken with her at the start, but almost 3 months on and he's starting to come around. She is a great baby, sleeps better than Joel does and he's almost 2! Almost 2, can you believe it? Two years full of learning, adjusting, tears, happiness, ups and downs with his eye and we are finally seeing the light at the end of the tunnel.

I can put his eye in and out on my own which makes life so much easier. I lay him on the bed and straddle him, pinning his arms between my legs and holding his head with my left hand while I put his eye in with my right. It doesn't take very long at all and he doesn't cry, just wriggles. When we were restraining him more forcefully it was actually harder. He would cry and scream and go red in the face and sometimes wet himself. It was very traumatic for all of us. This way, we do it when we're ready, play on the bed before I put it in and sometimes he will go lay on the bed when I say "Let's put your eye in Joel!" I am trying to make it a fun thing for him and it's definitely working.

I've posted a photo of the little bottles we need for his eye - there's a plastic container to keep the eye in, a little purple "sucker" that suctions on to the eye so we can take it out, a cleaner and some comfort formula which we put on the eye before it goes in. It's like an oil and lubricates it so it's more comfortable for him and slides in easier. It's all stored in our Boston bag. The other day, Joel got to the bag and hid the sucker. It took me 4 days to find it, during which time I didn't put his eye in because it would have been too hard to take out without that! I think that was his plan, cheeky boy. I finally found it qrapped up in a flannel in the change table.

A week after Imogen was born, joel went in for another operation, this time to have grommets put in. They have made the world of difference. He talks and babbles so much now, he really didn't have very many words bbefore the op and now he has heaps. Thatw as his fourth (and hopefully last!) general anesthetic and he bounced back fine.

On Sunday we went to a picnic organised by the Geelens, who are the Ocularists here in Perth. It was so great to meet some other kids with prosthetic eyes and also a lot of adults who have lost an eye through illness or injury. The kids enjoyed the day. I told Annalise we were going to meet some other kids who have "eyes like Joel" and she said "noooo, there's no one else like Joel!" How right she is! There really is no one like him, love that little boy.

The other day Annalise came up to me and said Joel's eye looked "funny". I thought maybe it had turned or something so I had a look but it was in perfectly so I asked her what she meant. She said that his pretend eye looks funny and she loves him with his real eye in. she is so sweet about his eye, she loves him with or without his prosthetic but she'd much prefer if he just had his normal, yellow, blind eye.

We have another appointment with Joel's surgeon on 8th December. it's just a check up. At our last check up, we were told that the dried, yellow blood in his eye would drain and we'd be able to see his iris but that hasn't happened. The eye is a yellow/green bruised colour now, which is fine, just a lot more noticeable that something is wrong beqcuase it is almost flourescent. It stands out a lot, and from a distance, when he doesn't have his prosthetic in.

All in all, I feel like we're over the worst of it. No more surgeries, the prosthetic is going great, he's happy and healthy. The only other thing that could possible happen is high pressure at his check up, but for now I think he is comfortable.

Sunday, July 31, 2011

We've had the prosthetic for four days

And I can't believe how easily we can get it in and out. I am really pleased. We had his first fitting on Thursday at 3, left the eye in over night, went back to Geelen on Friday at 9, took it out and made adjustments then put it back in. By the afternoon of Friday though, his eye was very red so we took it out (with a little sucker thing that attaches to the eye and makes taking it out quite simple) and left it out all day Saturday. His eye was very red and swollen shut on Saturday and he didn't sleep very well at all. I was expecting irritation so I wasn't too concerned, after all if I had a large acrylic eye in my socket I wouldn't expect my body to accept it straight away. We put the eye back in on Sunday and he wore it all day yesterday with no problems. Took it out last night, he slept well, then back in this morning and he's been fine.

I am really really pleased with how it is going so far. I am so relieved that putting it in and out isn't half as difficult as the RGP contact lens. The edges of the prosthetic are very thick, so there is more to hold on to when inserting it. With the contact, it would flip out of my fingers because of the thin edges and it took us a good three months to get used to putting it in and out, by which stage Joel had gone totally blind in that eye and it was no longer useful.

This morning I said to him "come and put your eye in Joel" and he pointed to his eye then ran off laughing and played peek a boo for a while around the door. We let him have a little bit of fun before doing it, then Rich picked him up and sat with him on his lap on the lounge. As I came towards him with the eye, he started crying and screwed his face up and thrashing around. It's hard to have to restrain him to put it in and I feel really guilty for being the one to cause him discomfort when I put the eye in. Rich held his forehead and his hands and I lifted up the top lid, slid the eye in, pulled the bottom lid down and it falls into place. All up, putting the eye in takes about 8 seconds but it feels like longer when my little baby is crying. As soon as it's in we give him cuddles, show him toys and distract him and he stops crying pretty much straight away. He will rub the eye for a minute or so but after that he just carries on as usual.

Once we knew we could do the eye quite quickly, we asked Annalise if she wanted to watch. She was facinated but once we took it out she said "Oh no, mummy! Now Joel can't see!" So innocent. We asked her if she wanted to hold the eye and she sat down on the mat (no way was I letting her hold it on the hard floor! If we had to pay to replace it, Joel wouldn't be getting one for a very very long time!). She turned it over in her hands, put it on the mat, showed her Barbies and ponies and asked if she could keep it in her room. I told her no, but that she could help me clean it and put it back into it's box until we needed it again so she helped to wash it with saline and dry it with the paper towel. When I was putting her to bed that night, she said she wanted and eye that she could "pick out". I told her she didn't need one because when she was born, there was nothing wrong with her eyes but she said "when I was a baby, I had an eye like Joel but I'm a big girl now so I don't need one". They know how to tug at your heartstrings, kids. She asked if the new baby will have to go to hospital and have a new eye and I said that I really hope not, I hope she has beautiful big eyes like her sister.

We keep the eye in a little plastic container with some paper towel on the bottom to stop it flipping over and rolling around. We also clean it with saline and use a conditioner from Bausch and Lomb before we put it in to Joel's eye. This helps to keep it lubricated and slippery. So far, it has been one of the easiest experiences we've had with Joel and for that I am so grateful.

Thursday, July 28, 2011

Joel has his first prosthetic eye

At 3:30 this afternoon, we went to see the Geelen's to get Joel's first painted shell. It was all pretty straight forward: Rich sat in the chair with Joel on his lap and held him while Paul put the eye in. In expert hands, it took about 10 seconds to go in. Joel rubbed it a lot, it was still a bit cold but once it warmed up he was fine. After he'd stopped rubbing it and I got a chance to look at his little face, I cried. He just looked so normal. I hate using that term, "normal", because hey, who is! But he just looked like he would have if none of this had have happened to him. There are still a few adjustments to be made to the eye; the pupil is quite large and the eye looks down and to the right. But, it is an amazing improvement to the blood stained natural eye that lays beneath the prosthetic. Once the few changes are made to it, I really doubt anyone will know there is anything different about him. The eye makes his eye appear so much larger, basically as large as his right eye.

I have uploaded a few pictures to the blog, it was really hard to get one of him looking straight on towards the camera. The eye does look a bit off centre and the colour is perhaps a tiny bit too green in some lights but we are just so happy to finally be at this stage. It felt like we would never get here with all the surgeries, then the bleeding and waiting for his eye to settle down to a point where a prosthetic was even an option. We have to go back tomorrow at 9am and Paul will take the eye out and make the adjustments, unfortunatley Rich can't come to this one so I'm on my ownbut judging by the amazing way Joel handled it today, and the care that Paul and Jenny have for their smallest clients, I think we'll be fine. He has gone to sleep with his eye in tonight and hardly seemed to even notice it while we were at home. He was playing and wrestling with Annalise like he usually does. Nothing stops him!

Oh and we found out that the chair that Rich loved so much in the Geelen's office is 96 years old! There's a pic of joel and Rich sitting in it to the right --->

Thursday, July 21, 2011

First fitting for painted shell

Yesterday we had our first fitting of Joel's painted shell with Paul Geelen from Artificial Eye Services. It went SO well, so much better than I expected and a lot less stressful on myself, Rich and Joel than I was thinking it would be.

When we arrived, Paul had an unpainted, white shell for us to try in Joel's eye. It looks like a very small ping pong ball, sliced in half horizontally. Before Paul had even put it in Joel's eye he said that he could tell it was going to be too bulky, so he disappeared for about 5 minutes to do some shaping of the eye, then came back and had me sit in an old fashioned style chair that Rich LOVED. It was brown leather and looked like it came from a 1950's doctor's surgery. I sat with Joel on my lap and Paul very calmly tried to insert the eye. Joel was quite comfortable with the whole process but the eye was still a bit too bulky at the top so it wouldn't go in properly. Paul took it away again and made some changes and we had a chance to see other artifical painted eyes and they looked so real. There was a pile of them on a bench next to some paints and they looked like all these little eyes staring back, some with blood vessels to make them look even more natural. Paul bought Joel's eye back and again we tried to put it in without restraining him but he'd clued on by this stage and resisted, so Rich held him as it was hard to hold him against my belly without him kicking and hurting me. The eye went in and Joel rubbed and rubbed it for ages. We just distracted him with all the toys and things in the office and he calmed down realy quickly. Paul said it was very cold when it first goes in and takes a while to warm up. The eye was white acrylic with green lines drawn on so that Paul could see where the centre of the eye is, which would enable him to paint the pupil on in the right spot. A few photos were taken of Joel with the eye in and some more of his non affected eye so that his prosthetic will look as natural as possible. Paul was able to get a good idea of where the centre was so he took it out and will paint it this week. We go back next Thursday at 3:30 to try out Joel's first painted shell! We're really excited. Even though the white eye looked like something from a scary movie, his eye was bigger and I can just imagine how much this will benefit him in the long run. I am really excited for him and so happy that I perservered with PMH to get them to write the letter to Geelen so we could go ahead and get it made.

The actual proceudre of putting the eye in and out is very similar to how we used to put in his contact lense, except the eye is bigger and thicker. Paul has a little suction tool to take it out too, something we didn't get with the contact although I can tell that will make things a bit easier because taking out the lense was our biggest problem. The artificial eye goes up under the top eyelid then the bottom lid is gently pulled down and the eye slots into place. I am not expecting that we'll be experts at it for a long time but it is good to have had that experience with the contact so we know what to expect.

Wednesday, July 6, 2011

EUA and Impression for Prosthetic done

I woke Joel up at 6:30 yesterday morning to try to get some food into him before he had to fast at 7. He was not impressed about waking up early and refused to eat eggs, toast or cereal, he wouldn't even have a bottle of milk. I started getting Annalise's lunch box ready and Joel was very interested in the small strawberry squares that were going in there so I gave him some and he ate 3 of them at about 7:15 so I thought that will have to do him! Annalise woke up at about 7:30 and had her cereal so of course Joel wanted some of that too so I gave him his bath while she ate then got them both ready for the day. He kept following her around, wanting everything that she had - an apple, glass of milk, juice. He was allowed to have juice and water so I gave him that but then it just got really hard to stop him from taking her food so we drove around for an hour or so, then I dropped Annalise off at my friends for the day at about 9:30.

Joel usually sleeps between 10 and 1 so I was hoping he'd sleep in the car which he did - from one end of the freeway to the other. As soon as I turned off the freeway and headed back north again he woke up and screamed all the way to the hospital. This was about 11:30. We arrived at the hospital and what a different experience it was to PMH. If you have private insurance I would definitely recommend Subiaco Private Hospital. There were 3 other kids there, not 20 like there have been at PMH. 2 were getting grommets and 1 family didn't talk to anyone so I have no idea what they were there for.

We filled out the paperwork and sat down in the lobby and drew, played toys, looked out the window for a while. Jenny Geelen arrived, she is the Ocularist making Joel's prosthetic eye. We spoke about the procedure for making the mould and how long her part of the procedure would take (about 2 minutes!). She was so lovely and so good with Joel.

We met with the Anethetist and she explained how she would be using a different type of anesthetic this time. The other 3 operations, Joel has had the mask on his face and gone to sleep that way. This time he would need intravenous anesthetic as the gas can cause low blood pressure and give a false reading of low pressure in his eye. She looked at his little fat, chubby hands and said she might have some trouble finding a vein. I told her about how at our last operation, they couldn't find a vein to put his pain relief drip in and he came out of surgery with 2 holes in both hands and one in his foot and his hands were bruised for weeks. She said she was sure she could do a good job and that wouldn't happen.

At about 1:30 Joel's name was called so I put the gown and hat on and went into theatre with him. Dr Lam, Jenny, two nurses and Tanya the Anethetist were waiting for him in there. As soon as he saw them he started freaking out. I had to lay him on the bed with his head in the head rest and sit nice and close to him but he kept trying to flip off the table and sit on me so they had to hold his legs and arms down, with one hand on his belly. He was screaming, his face was red, he was crying so much. I was just saying "it's going to be all done soon, baby boy. A quick one this time." Kept telling him how brave he was and that he's my beautiful little baby boy and mummy's here but he just kept crying and looking at me. Absolutely broke my heart. It is so hard because I am doing all this so that he can have his false eye made and help his face to grow and get him used to having it in while he's still little but while they were trying to put the needle in his hand, all I could feel was guilt. I wondered why was I doing it, why am I getting him a prosthetic. Is it for me or for him or for both of us. Why does he have to go through this. Does he really need it. Should I just wait unti he's older and he asks for one.

They told me that with this type of anesthetic he will still appear to be awake for a while after it has kicked in and that's true. He was still looking at me with his one good eye and sobbing but they said he was actually asleep. He has the most beautiful colour eye I have ever seen. It's so green and beautiful. I just wish he had two. I wish it was me going through it all and not him. They told me I could leave him and I walked out and cried.

After about half an hour I could hear him in recovery. He is really loud. The nurse came out and got me and they took me over to his little bed and he was laying on his tummy with his bum in the air. I picked him up and he was all floppy and his head kept falling back and he was crying. They said "he won't recognise you yet" but I sang Twinkle Twinkle Little Star to him and he stopped crying so I think he knew it was his mummy. He laid on me, crying on and off for about 5 minutes, then we moved to the big chairs because my back was killing me with a 30 week pregnant belly and a 13 kilo toddler hanging off me! We sat down and had cuddles for ages and the nurses brought him his milk bottle. He couldn't quite get his mouth to close on it and suck but he tried for about 10 minutes and eventually got there and started to wake up. His eye looked red and teary but not bad, just like he'd been rubbing it. After another 10 minutes he really started to wake up and saw his lunch box and grunted and pointed until I'd opened it. He ate a packet of chips and some mandarine, had a big drink of water and juice and he was raring to go. He kept trying to get down off the chair but his legs weren't working yet, he wasn't going to let that stop him though. He tried to walk over to the machines and pushed me away when I tried to help him. I showed him some chocolate and he came back to the chair though, so funny. They took his canula out and Dr Lam came to tell us how it went.

His eye is doing really well. There is no glaucoma or any pressure problems, the yellow blood should eventually fade and the cornea will become clear again. We don't need to put any more drops in for the first time since November last year which is awesome. The moulding went well and they should have a clear shell for us in the next week. Dr Lam doesn't need to see us for another 6 months which is great.

All in all, it's a good outcome. The day itself was very tiring and very emotional and I am glad it's over. He has recovered from the general really well this time, I think because it was such a short one and not an invasive surgery. He did wake a few times last night for cuddles but that's not unusual, sleeping isn't really his thing, he's got so many other things he wants to be doing. He's a very busy little man and has so many adventures he wants to get up to, just like every other normal sighted little boy <3

Thank you everyone for your messages to see how he is going, he's definitely back to his normal destructive self today xx

Monday, July 4, 2011

Getting ready for the EUA

Examination Under Anesthesia

It's tomorrow. Joel will need to fast from 7am until 1pm from solid food but he can have clear fluids until 11am. I think he'll be ok. it's his fourth general anesthetic but at least this time it's not invasive surgery.

Dr Lam will take the pressure of his eye and have a good look at it. The blood that's in there has dried to a yellow colour behind the cornea so his eye probably looks the worst it's ever looked from that perspective, but it's not swollen so it's as wide open as it's ever been which is good.

The Geelens will take an impression of his eye to make the mould for his prosthetic while he's under the general anesthetic. Hopefully we are home by late evening.

Please pray for it all to go well!

Tuesday, June 28, 2011

EUA for tomorrow has been cancelled

They've double booked the operating theatre at the small hospital we were going to, so we've been moved back to Wednesday. This is actually probably a good thing because Joel was awake last night from 11pm - 3am, crying and grizzling so I think he may be coming down with something. It's just inconvenient because Annalise doesn't have school on Wednesdays so now I need to find a baby sitter.

Monday, June 27, 2011

How to get an appointment

I recently had an email from a lady with a child who is suspected of having PHPV. I say "suspected" because she has been finding it really hard to get answers. I absolutely know how frustrating this is, being told you have to wait 6 months for the next available appointment, needing referrals etc etc. Think about it though, if YOU started going blind in your left eye, would YOU wait 6 months to do something about it? The answer is probably "no", so why are we expected to wait that long for something to be done for our kids? When they are babies, their brains are being wired from learning, what goes in auditorily and visually. If one eye isn't seeing clearly, the brain will learn to ignore that eye and then the damage is done. If your baby is 8 weeks old and you get told you can't get an appointment until they are 6 months old, that four months of processing your baby's brain is missing out on. If they have surgery at 6 months, it's another month until you can start properly patching and getting some light and images into that eye. It's too long to wait.

When we noticed something was wrong with Joel's eye, we went straight to the Emergency department of our state's biggest children's hospital. I really think this was the best move we made (we had no idea at the time that it would be a blessing, it was a Sunday and everywhere else was closed!). Although they couldn't help us on the day, we were immediately referred to the Senior Opthamologist Dr Lam. We were able to get an appointment with him for the Thursday because I called and called, begging to be seen. My calling had nothing to do with being pushy or demanding, it had everything to do with being desperatley worried for my newborn baby. You can read the blog posts from the very start and see just how desperate I was! I was hysterical and didn't cope with "not knowing" very well at all. After we'd seen Dr Lam and he had diagnosed PHPV / PFVS, I wanted to get a second opinion. I googled Pediatric Opthamologists, found the only other two in WA and went to my GP and got referrals for them. I called their offices the next day and was told there were no appointments for 4-6 months. This was obviously too much for my hysterical mother's brain to take so I had an absolute melt down over the phone, bawling and babbling and begging to be seen. I got in within 4 days.

I am not saying to scream like a banshee until they agree to meet you, but you are the biggest advocate for your kids so don't be scared to be a bit more pushy than you naturally would be. There will be plenty of other times in your child's life they need you to stand up for them, PHPV kids just sometimes need that to happen a bit earlier!

EUA this Thursday

It's Tuesday today and Joel's EUA (Examination under anesthesia) is booked for this Thursday. This will be his fourth general anesthetic in the 17 months he's been alive and I can tell you it never seems to get easier. I am glad this time that there's no invasive surgery, just a look at the eye and an impression of his little face and area around the eye taken so they can make the prosthetic. His EUA is at 1pm and he has to fast from 7am. He LOVES his food, so I'm not sure how this will go. It was easier the last few times because he was still a baby and not having solid food, but now he has discovered the delights of things like meat and carbs, he eats us out of house and home. I think I'll give him as much breakfast as I can at around 6:30 then drop Annalise off at school, come home for a couple of hours then drive around and hope he falls asleep in the car. He can have apple juice until 11am, apparently that helps to make them feel full.

As I am having a few complications with this pregnancy, I have been on bed rest since 22 weeks (I am now 29 weeks). I only really seem to leave the house for things like doctors appointments for both kids (it's been ear infection central for the past few weeks), Obstetric appointments for me and Opthamologist appointments for Joel. I am glad we're going to a smaller private hospital this time, instead of PMH as it will mean there's less room for Joel to run around in while we're waiting which means less up and down and chasing him around for me. Bed rest is really hard with the two kids but I try to sit down as much as I can. Rich has been helping to put the kids to bed, cleaning, cooking, as well as working 6-7 days a week. I will be glad once this pregnancy is over, Joel's prosthetic is sorted and life can continue as normal.

In one way, I am actually glad this is all happening to us. Our marriage has had it's trials by fire and I know that we are strong enough to stick together through anything now. It takes a lot to rock our boat now, we've been through the worst of it over the past 5 years. I do hear stories about couples who have sick or special needs kids and the arguments they have, the financial and emotional stress and toll it takes, and how appointments, check ups, surgeries, everything that goes along with it just filters in and take over your life for a while. We were like that, we had arguements about the best way to put Joel's lense in (when he was wearing one), who would look after Annalise while we were at appointments with Joel, the never ending question of "how much will THIS cost us?" If you're new to the journey, please be assured that it doesn't last forever! Your "new normal" will become just that, normal, and life will continue on a different and more blessed path because you have this amazing little person in your life. It certainly has given me more to be grateful for, made me appreciate the health of our children and really given me an insight into life with a child who isn't like the other kids. It's opened my eyes to societies reaction to someone "different", the stares and questions I never thought I would have to answer. Joel's education will be different, his teachers will need to make accomodation for him, there will be other facets of his life that we wouldn't have had the chance to experience if he wasn't blind in that eye and for that I am grateful. As parents, and as human beings, we can learn so much from these kids. We are humbled by them and in awe of them, of their weakness and their many strengths. Hug your kids tight and tell them how special they are.

Friday, June 24, 2011

Proud of my kids

When Annalise was little, I was so proud of her for a lot of things - most of those were things that every parent would be proud of. I was proud because she was so clever, walked, talked a lot and had heaps of words, was sociable, cute with a huge personality.

I am proud of Joel for those same things too, but there are other things that make me more proud. Like when I can see he is struggling slightly with trying to work out how far away something is, a pencil he's trying to grab. I am so proud when he picks it up first try and starts scribbling.

Annalise was asked by another little girl the other day "what's wrong with your brother's eye?". Straight away she said "he has one eye open and one eye closed but today both are open". She was proud of him for having a "good eye day!" Both eyes were open and to her, that's pretty great. The other little girl said "yeah but it's all yucky". Annalise looked at Joel and said "That's his sore eye". The other girl seemed happy with that and although she kept looking at his eye, they continued playing and nothing more was said. This is the first time anyone has ever asked her about his eye and I couldn't have been more proud or happier with the way she responded. To her, it's nothing. To us, he's just Joel. To everyone who knows him, he's perfect.

Financial costs

Even though we reached the Medicare safety net within 3 weeks of the new year, our out of pocket expenses for specialist appointments, prescriptions, private health insurance and the excess for hospital admissions are, most of the time, more than we can afford. Yes, it is our choice to have private insurance and for that I am grateful - we were able to choose our surgeon for Joel and can choose our hospital for his surgeries and exams, but the insurance doesn't cover things like his drops or the gap for our specialist appointments. We don't have a health care card to enable us to access cheaper medications, therefore every bottle of drops costs us around $18. Since the start of this year, we have bought 18 bottles. Seeing Dr Lam costs us around $75, with about $30 refunded through Medicare. His hospital admissions are $250 each time and on top of that we pay about $400 in "professional fees" (I have no idea what they are, the invoices come in with codes so we can put that through our insurance and Medicare.)

This pregnancy, I have been classed as high risk due to a placental abruption, IUGR and subchorionic hemmorage, so we are spending huge amounts (around $190 a week) on scans and consultations with the Maternal Fetal Medicine specialist. I honestly don't know how we have survived financially for as long as we have. But now, it has all come to a head and Richard has had to take on a second job to try to pay some of our medical bills. There are so many things we need and want; a new car, to finish off our front yard for the kids to play outside, new clothes, things for the kids, but it all has had to take a back seat to these medical costs.

I guess it's one of those sides to having a child with something like this that people don't often think about. More so, we are asked how we are doing emotionally, how we are dealing with the pregnancy complications, things with Joel's eye. The money side of things just doesn't enter most people's thoughts. We are lucky that we live in Australia and have access to a lot of free health care and services, it's just seems that if you have private insurance, earn a decent wage and work hard, you are punsihed more than rewarded when it comes to these things. One lady I know gets the same drops for $2.60 because she has a health care card and doesn't work. It's hard not to get bitter about it. My husband works so hard for his family yet we have no spare money after paying so much for the same services that other people receive for free.

It has been suggested to us to look into what benefits we can receive for having a "disabled" child, but to me, Joel isn't disabled. He just has one eye that can't see. I really hope he never thinks of himself as disabled, that he knows he is just as capable fo doing everything else that other little boys can do.

Thursday, June 16, 2011

EUA rebooked

We couldn't do Joel's EUA and take the impression for his eye because he had an ear infection and was just really sick so the doctor suggested maybe putting it off until he could handle the GA a bit better. It's been re booked for the 30th June. Now he has sprained his little foot, I have no idea how. He is constantly tripping and falling, more so than a toddler with perfect vision. He seems to struggle with depth perception a bit; stairs and small steps are a hurdle. He has learnt to do some other things way before his sister though, he can ride a little 3 wheel bike like he's been doing it for years and has absolutely no fear of climbing, getting down is he problem though, He just can't seem to work out how far he has to drop, whether it's 10cm or 100cm. His latest bruise on his forehead is from dropping way too far onto the floor, face first. I was worried about his foot because he was limping and I thought I'd better take him to get it checked out as soon as I could because if I left it and it was fractured and they looked at the bruises on his head I could be in trouble! Poor little guy looks like he's been beaten up! He's such a trooper though, he'll just keep trying things until he works it out and I really try not to do too much for him now because I don't want him to grow up thinking that he can't do all the same things as all the other kids. He is getting cheekier by the day too, makes me laugh all the time. We have finished with the Maxidex drops and his eyeball is yellow and brown, like an old bruise. I have heard that hyphema's can cause staining of the cornea and I am pretty sure that's what's happened this time, I doubt we'll ever see his iris and pupil again.

We have also been to see a geneticist, I have a letter fromt hem about what they think about his PHPV so I will try to scan it in and post it for those who are interested in any genetic link.

Friday, May 20, 2011

Latest check up

It's been a while since we saw Dr Lam, he was overseas for a few weeks and we saw him just before he left. That was when Joel's eye had hemmoraghed from all the coughing he did when he was sick. We were on Prednefrin every 2 hours and Chlorsig every 3 hours. While Dr Lam was away, we ran out of Prednefrin so I went to our GP and got another script, I just didn't feel like we were really getting on top of the bleeding. Prednefrin is a very strong steroid. I kept going with the Prednefrin every 2 hours, gradually weaning down to every 4 hours, then twice a day. The eye has improved greatly, but there is a still a noticeable bleed coming from the right side of the iris. The rest of the iris is clear and the pupil is visable now which is great. Today, Dr Lam took another look in his eye and said that we do need to just really knock that bleeding on the head, so we are now on Maxidex 4 times a day. Maxidex is generally an adult corticosteroid, but we are using it for Joel as the bleeding has been ongoing for months and we just can't seem to get on top of it.

Apart from that bleeding though, his eye is looking a lot better than it has done in a long time. So, that means, that we can now get him fitted for his prosthetic! His EUA (Evaulation Under Anesthesia) is booked for the 8th June. Joel will go under a GA again but this time, no surgery woo hoo. Dr Lam will just have a really good look at the eye, and the Geelens (the couple here in Perth who make the artificial eyes) will be there and they will take a mould of Joel's eye and the surrounding orbit and make an eye to fit him. We are really excited about this. I know the prosthetic comes with it's own set of problems and new issues, but it will be so great to see if Joel can handle it and what he will look like in photos and when we are out with two eyes that look similar. At the moment we get asked everywhere we go what is wrong with his eye and when I say he's blind, the general response is "well, at least he's got the other eye". This way, hopefully no one will notice too much to really comment on it. His micro eye is looking smaller and smaller the more he grows, and if he can tolerate a shell that would be great. If not, I am happy for him to just go on with no prosthetic. I don't have an issue with how he looks anymore, to me he's perfect and the cutest little boy ever and I have absolutely grown to love his bunky little eye. I kiss it and pray for it all the time.

So, unless anything major happens in the next few weeks, my next post should include some more photos of him at the hospital - St John of God this time, I'm not going through PMH anymore, too frustrating. It will be especially good to have this artificial eye organsed before the next baby comes too, I'm 24 weeks today, and this pregnancy is very different to my first two so Joel's eye will be one less thing to think about.

I heard a great quote today too.

"There are two ways to live; one as if nothing is a miracle and the other as if everything is a miracle". Albert Einstein

I am choosing to believe in miracles for all my babies. I feel so blessed to have the two amazing children here to cuddle and laugh with, and the unborn miracle inside me, who will be here in God's perfect timing.

We are really excited to be starting this next "new normal" with Joel, my amazing little man.

Wednesday, March 30, 2011

Another hyphema

Joel has been sick for the past 2 weeks, nothing serious, just a cold. Runny nose. viral rash. His eye always shuts when he is sick, he usually rubs snot into it and it gets infected so I just kept up with the Maxidex drops.

On Monday he opened it more than he had done in a while and it looked fine. On Tuesday night it didn't. I noticed the anterior chamber had filled up with bright red blood. His eye looked terrible. Wednesday morning, 10am, we went back to PMH emergency. I think they do a brilliant job, they had so many kids to deal with, so many parents to deal with, and they do it all happily and relatively efficiently. It took just over two hours to get through the emergency queue. Obviously an eye filled with blood isn't their biggest priority, there was one little boy there who looked like he'd been rolling around in glass, cuts all over his body and face, he'd knocked his front teeth out. Joel was happy enough, playing and drinking and eating.

We went into the ward and the nurse weighed him (12kgs), then asked what was wrong with his eye. Now this is what gets me. We go to PMH all the time. His files are there, with everything they need to know about his surgeries, what's gone on with his eye, how he was born. Yet I had to recount the whole story from his 4 week diagnosis to a nurse who, I knew, would then go and get a doctor, and I would have to explain the whole thing again. I tried to do the abridged version ("he was born blind in that eye, he's had 3 operations, now the eye is bleeding") BAH BOW, not enough information. Back to the start. Finally she finishes taking his notes and we wait for the doctor. Another hour, the doctor comes. "what's wrong with his eye?" Again I try the shortened version but it's not enough, so again we go through his operations, what is PHPV, can he see, etc etc. Doctor looks in his eye, yep it's bleeding. I ask why. He doesn't know. Goes to get a Peadiatrician. Another hour or so. Pead comes, recount the story. She looks in his eye. Yep, it's bleeding. Ah huh. I ask why, she doesn't know, goes off to call "someone". While she's gone, I ring Dr Lam's office. We have an appointment already booked for the 7th April, I ask if I can get in any earlier. Receptionist says yes, can do this Friday at 10. Now I just want to go home. The Pead comes back and says there's no eye registrar rostered on today. Nor is there an Opthamologist. Basically there's noone here who knows anything about eyes. Oh joy of joys. She tells me she's tried to call the Outpatients Opthamology but no one is answering, someone will have to call me tomorrow with another appointment time. I ask if I'll be able to see Dr Lam then, she says it will be his clinic but I might not be able to see him. I tell her I have an appointment booked with him for this Friday now, I'll just leave it at that. We are free to go. I pack up my tired little man and we leave. I think this was about 3pm.

So that was our whole day yesterday. Joel was up a lot last night, I don't know if it's his eye hurting, his ear, teeth, if he was over tired from not sleeping yesterday (he had a nap in the car on the way to hospital but that was it).

I honestly don't know what they can do for him. He isn't having any more operations, they won't do another drainage on that eye to remove the blood (which this morning has turned a murky brown/yellow colour), I doubt there is a drop in the world that can remove the blood. I just don't know, again, what the next step will be.

I was so excited when he opened his eye properly on Monday, so happy for him that finally now he was over the worst of the infections that he's had since Christmas and maybe we'd get the go ahead at our next appointment to get his shell made. I know that's not going to happen, he won't look "normal" for a while, I won't be able to see what he looks like with two eyes that are the same. His eye won't get that extra chance to grow, like other kids who have had their shells for a year already. I am getting really frustrated, REALLY frustrated, that nothing is going his way. It's one thing after another. I just wish we could get on top of it, that we could help him but all we seem to do is fight infections.

I will update again once I've seen the surgeon tomorrow. I've tried to take a photo of the eye but can't get him to sit still, just imagine an eye that has no iris or pupil because it's filled with browny yellow blood, with streaks of bright red. That pretty much sums it up.

Please pray for him, keep him in your thoughts and pray that blood goes away, that he's not in any pain. He is such a brave little boy, always being poked and prodded and having lights in his face. I know he's not ever going to see out of that eye but he at least deserves to have the chance to look normal.

Thursday, March 3, 2011

Another blog


Thursday, February 17, 2011

Examples of PHPV/Anophthalmia/Micro presenting in families

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


30 year old mother and her 15 month old son, both with PHPV


same again


Page 273 suggests it is heritable (no, I didn't read the whole thing, I just searched lol)


Article on SOX2 gene


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:


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)


Another blog with some good links to visually disabled youtube videos


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:


Video of a vitrectomy and lensectomy in a person with PHPV (bit gory for anyone with a weak stomach)


I've posted this before, it's Miss Utah who has PHPV and a prosthetic eye.


A lady who I know on facebook, her blog about her little boy:


Another mum's blog, love the pictures on this one


Great informative website for the medical side of it and has some great pics of eyes:


Another mum blog:


This guy is a PO, specialising in retinal issues, here's a link to his blog post about genetic testing for PHPV:


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.

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.

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:


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 :-)