Roslyn has been doing well and we have gained a lot more insight into her condition and she has officially been given a diagnosis.
I have been researching extensively about a thing called 'Sticklers syndrome" since it was first mentioned to me shortly after Rosie's birth. My family has a history of early arthritis/joint and eye issues... things which we all thought was just a bunch of unrelated issues happening to us. But it turns out Rosie is seeming to give us a missing jigsaw piece to explain everything: we likely have sticklers type 1.
Sticklers syndrome is a rare connective tissue disorders which affects collagen in the roof of the mouth, eyes, ears and joints. Rosie made the doctors very suspicious of it due to her PRS (which has a very high comorbidity with sticklers), my family history and following an eye test she was found to be highly myopic. We are awaiting her baby glasses which should arrive in a few weeks time. She us currently -6 and -6.75 so is unable to see much detail unless right in front if her face and her vision is blurred in general. I found a myopia simulation to help me understand what her sight currently is. You can find it here: https://coopervision.com/myopia-simulator
The official diagnosis came after a trip to addenbrookes where we were seen by the highly specialised sticklers clinic.
Roslyn had her eyes checked and examined. They did various tests to check she could follow objects and coordinate her eyes well which she did fantastically with She was such a good girl with all the poking and proving and did very well overall but did show at the clinic she is short sighted again.
Me and my husband had our eyes examined too and had drops put in one eye for the health of the eye to be looked at in detail. It was nice to enjoy a lighted side of the day with a Bowie selfie of us all.
We met with Dr Alexander of the sticklers clinic who was so lovely and took the time to listen and answer all of our questions.
He confirmed Roslyn's blood test indicated she had type 1 sticklers and examined all of our eyes. My husbands eyes looked like normal healthy eyes and mine looked similar to Rosie's indicating I likely have the same syndrome. This would make sense as it is a dominant gene with a 50/50 chance of being passed down each generation and I have epiphyseal dysplasia in my hips which can be a way this syndrome manifests. Therefore, this gene passed down to Rosie from me and it's likely members of my family have been having difficulties due to this syndrome and didn't have a possible cause until now. I have taken my blood test and await the official conformation over the next few weeks, but to me I already know the answer.
Roslyn is already on the waiting list for cryotherapy on her eyes to lower her risk of detachment. I will go on the list as soon as my blood confirms I also have SS and we will hopefully have the eye surgery by the end of the year.
I'm scared for the idea of my baby girl having another surgery on the horizon when she already has her cleft repair in front of her. I'm scared for myself as I feel so squeamish about things being done to my eyes. I have anxiety about the unknown of our futures and how things will progress with our sight, hearing and joints. I have guilt for passing on this disability to my daughter without knowing I had it. My mind is very much stuck on what ifs... What if a detachment happens? What if detachments repair surgery isn't successful? What if vision is lost? What if we need multiple joint replacements? I am terrified. And while this news was expected, the reality of it sinking in weighs on me.
I do have hope though for my future and for Roslyn's. Dr Alexander and Dr Snead at addenbrookes have lead in this cryotherapy treatment for sticklers patients to prevent retinal detachment. This is a relatively new procedure and reduces our life time detachment risk from 80% to 10% (general population has less than a 1% chance of spontaneous retinal detachment by comparison). And having this surgery means that if we do have a detachment then repairs are more likely to be successful. We are lucky enough to be in an age where this treatment is avaliable where is wasn't to those with sticklers years previously and due to that many have suffered negative outcomes.
I feel hopefully as while Roslyn has high myopia now sticklers isn't associated with her sight progressing negatively throughout child and early adulthood. Sticklers patients start out with high myopia which is relatively stable.
I feel hopeful as Roslyn is no more at risk from impact detachments than anyone else (only SPONTANEOUS detachments) so she can play ball sports as much as she wishes.
I feel hopeful as hearing loss associated in type 1 ss is usually mild to moderate in the most severe cases and with hearing aid advancements now a days the is adaptions which can be made to make her life an amazing one to live still.
I feel hopeful as we know the risk to her joints early we can encourage activity to build her muscles to support her joints and make potential replacement surgery easier through low impact sports like swimming and cycling. Create the habit early and it will feel second nature to her.
I feel hopeful as sticklers syndrome doesn't affect her brain/behaviour/intelligence in anyway so she should be able to learn, create and play as any other child would.
I feel hopeful as life expectancy is not affected by this condition.
I feel hopeful as my daughter is such a happy, healthy and clever girl who will have a lot of support around her in family and medical professions who will ensure her life is as forfilling and as amazing as she deserve to have it be.
For those interested in more detail of what sticklers syndrome is please follow this link: https://rarediseases.org/rare-diseases/stickler-syndrome/
For anyone wanting to donate to the UK Stickler Syndrome Support Group please follow this link: https://www.justgiving.com/sssgroup