This blog was written late at night so please excuse my possible typos..
To boil it all down into one description..it's like he's a toddler in a 80 year old mans body. He has server Myopia of 20/200 [low vision, cusp of Legally Blind] with eye glasses of -9 category 3. What this means, is glasses can only do little help. No common or any vision corrective surgeries will fix this. Which also means, in the period of 3 years we've been bugging eye dr's and Pediatricians, we've discovered that his eyes have turned into the shape of footballs instead of an circle. Which means, this leads to Retina detachment. This is another highly common situation with Stickler Syndrome at an abnormally early age. He is already a Glaucoma Suspect, with closely monitoring on potential Cataracts which is also common for him to have at such an early age [as early as 20, if not sooner]. With Stickler Syndrome there is this strange grey reflective part on their eyes where the corners [vitreous humour] of the whites in the eyes is. It's not always easy to spot, specially since most of the times he's squinting to see you, but it's something entirely different I've ever seen before.
Additionally, he has an unexplained sensitivity to light as well as squints all the time. Many more appointments will start to narrow in on why this might be..which is horrible waiting for results and allowing 'his eyes to adjust to his new glasses' which I'm pretty has created his left eye to just randomly roll around on it's own independent from the other one. I...think...that is all that is said about the eyes. Oh, and if his retina detaches we have to rush him in within 1/2 hour for emergency surgery otherwise he will be completely blind in that eye. Because of all this, he is never to play sports or partake in physical activity where something might strike his face or be contact sports in any way shape or form. We will be returning back to the Neuro-Optomologist on a 3-6 months basis to keep an eye on his vision. This will be forever on going unless things drastically change sooner.
Yes, it doesn't end there. He additionally has had severely poppy joints since a baby with slightly noticeable club feet. He would kick his own feet just by kicking his legs abnormally more than our other babies. Because of this, his legs would also bow. We were told it'd correct itself, which it finally has now. He is hyper mobile with his joints with the ability to place his thumb to his wrist, arms behind his back pushed abnormally far, etc. Here is what it looks like [example, but in toddler form]:
With his joints between even the ages 5-10 or 10-20 he can already get Osteoarthritis. Something majority of people don't get until their adult lives.
But that's not all, what more is he can actually have hearing problems. Considering the ear is a 'joint' to. We just had an actual verbal hearing test but need to return to complete tone hearing test for him, but the good news is so far his hearing shows up normal for a verbal range of hearing as well as that machine that bounces and sends the sound back..he passed that as well. When he was born, I had stayed an extra day in the hospital since one ear didn't pass that test. They thought something hadn't cleared yet, and within 24 hours afterwards it cleared and we were able to leave the birthing center. He will be screened for this on an annual basis going forward. Signs of bad hearing will most likely increase those appointments.
Another thing that can happen is Mitro Valve Prolapse. We haven't had signs to show that we should get this checked, and today the Dr said normally heart murmurs are a sign to keep an eye on the valve, but considering my families heart history we're going to look into it anyways at the next appointment with him. I want to leave no stone unturned with this condition. It just makes you think of those with skin cancer, which would of easily been prevented with a simple removal of a simple mole at one point. I'd rather take that simple test now, and know than not and have something horrible happening instead. After almost 4 years with not knowing all this but having that intuition that things weren't right, I'd rather know a no than not.
Another thing we run into is his mouth has a high arched palate which has created speech problems after speaking impeccably well at an earlier age up until around 3 years of age. Now he has far more letters being changed as he used to speak a tons better with only a few mishaps with letters. Speech Therapy he will need until this is hopefully resolved at later years. Additionally, facial features are a huge sign of this. It's more common to discover it as a child than as adults as features can change within age. Such as his flat facial profile. Even his forehead is completely flat. His nose has no bridge. Between this and the high arch, it creates sinus problems for him constantly. Since a baby we have yet to go past a week with out his nose running constantly. It's always clear not infected. I've discussed this with support groups and it appears it's a common situation with many Stickler Patiences. I'd rather just let it run with constant cleaning rather than put any sprays in it. This is Chronic, so a spray won't fix it anyways but only temporarily. He has started to blow his nose calling it a 'booger tornado' which helps him get it all out quicker..yes..lovely topic, huh? One other thing is that he has
Epicanthic folds:
Here is one of the best pictures I could pick to show the folds on the eyes. This is very common among many
syndrome type genetic disorders. Down Syndrome also has this same fold and nose bridge.
In addition to all this....he has spine problems. You pick him up as a baby and even now and his back will pop. His joint will pop with out little effort. Not like the C02 pop, like it's softly dislocating pop. His joints are very soft. Lacking stability. We're going to be seeing a Pediatric Physical Therapist for this on a regular basis to help improve his quality of life by building up his muscles that will keep his joints accurately in place since his body won't be enduring any sports at any point it gives him a great alternative. Also, I'm going to look into children's Yoga as the warming of the Synovial fluids and mild stretching to improve his quality of life and over time help manage his pain. I think it's great for us to get into this routine now so that way he can be used to this management as an adult.
Our Pediatrician has helped us reach out, in addition to all this for another specialist that is in the same building as the Physical Therapist which is Occupational Therapy. What they will be working on is something called Sensory Integration Disorder. He will love his shoes on minute but screaming in pain the next. Also, certain foods such as cauliflower makes him gag and throw up because the texture is 'too owie' on his tongue. Other times, it can be find if cooked right. He's sensitive to noises being too low or too high, or even taking a shower vs. a bath. This can be common in children you see with Autism, but also can be children with Stickler Syndrome.
The Dr agree's that he has Sensory Integration Disorder, so we're proceeding forward with ALSO that therapy. This isn't an easy one to manage either. As a parent, it can be exhausting trying to run through a number of things to try to figure out what will calm down their brain and stimulus to the point where he's not running over the place, some times screaming loudly, or just can't sit still enough to even play with play dough for a few minutes as he has a tendency to pace when he goes through these episodes. We've been giving him a bowl of beans, noodles and rice to shovel around with texture to hopefully calm his mind. This doesn't always work every day. Play dough, coloring, painting, and even recently we've found breaking sticks and ripping apart flowers are also rather empowering for him that helps him calm down. The iPad on occasion with educational games can help also calm his mind, but often times he grows hysterical and upset with those. Not in the typical way you'd think, it's a different kind of upset.
Hm, I think that's all? I will write more as things progress of course. Or just to discuss how certain days are or how he's feeling on certain days. Part of this is he's bound to get boughts of just utter sluggishness and exhaustion. Plenty of rest on those days where as other days he's ready to be a healthy, otherwise, toddler full of energy.
On additional thing we're looking to get checked out is that on Mikes male side of the family runs another thing that influences the same Chromosome 6 which will create the spine into a solid bone rod. It's where the spine fuses together into one bone. He already has 2 family members who has it. I'm REALLY hoping this doesn't happen to poor little Colin, but we're going to get that screened for as well.
It's super late by the time I've completed the novel of what all is going on with Colin right now. We shall write more later. Thanks for taking the time in reading!
To review more information about Stickler Syndrome visit:
www.sticklervideo.org
www.stickler.org
No comments:
Post a Comment