Tell us about Jimenas diagnosis.
There were lots of little things that just didn't add up for me and dad. She was born with eye misalignment & we were told by doctors that it would get better, that lots of babies were born with some misalignment but it improves quickly. For Jimena is actually got worse and we finally got diagnosed with strabismus (exotropia). Simultaneously, we noticed she seemed pretty floppy and her neck seemed tight. We took her to her pediatrician who referred us to a PT and she was diagnosed with torticollis and low muscle tone. We had lots of issues feeding and gaining weight when she was an infant. She also had staring spells that made us get tested for seizures. She was also developmentally delayed. Something was just not adding up to me, I had a mom gut feeling something was off. So I fought and fought until we got genetic testing.
They performed a CMA test on Jimena. The results were: 17p11.2 gain (duplication) and 3.6 MB
Could you please describe your feelings when you received Jimena’s diagnosis?
It was extremely hard at first (the neurologist who read us the diagnosis didnt even make sure I had a support person with me, so I was alone with Jimena when I got the results). It was extremely hard at first, since its such a rare condition our doctors couldnt tell us much. We were mostly referred to websites, a genetic counselor and FB support groups. At first it was extremely scary, not knowing what the future holds, not knowing how severe/mild it is, not knowing if she will ever max out. We went through a grieving period that lasted quite a bit. I felt like the life I desired for my baby was no longer going to happen. I would say it took me maybe 8 months to start feeling more normal and start embracing PTLS. I still have hard days but its better. I dont think ill ever be okay with everything- itll just come in different phases.
What Difficulties does Jimena face?
This is a really hard question. Not sure if I could only say one thing is the hardest. I think its more a combination of: 1) not knowing the future. This diagnosis is a "we will see what happens". We have had her in therapies since she was 3 months old which is the biggest blessing ever and early intervention has helped her SO much that her doctors are amazed at her progress. But now knowing, not being able to have someone tell me "this is what PTLS will look like specifically for Jimena" is hard for me to cope with. 2) Not knowing if there is a better therapist we could be seeing. Are all of Jimena's therapists the best in Austin, TX? No, I wouldnt say so. I do think they are great, but i want THE BEST for my daughter and nothing less. But the waitlists are years long, there are no openings ect ect and so we have to take what is available and that makes it hard for me because all I want is to help her as much as I can. 3) Speech. She is about to turn 2 and does not talk yet. The avg age PTLS kiddos talk are betwen 4-7 and that breaks my heart. I want to communicate with her and dont want her to feel frsutrated not being able to communicate.
What are your worries / thoughts for the future?
I am scared but also hopeful. I wish the US had more help/benefits/assistance for kids with special needs. I am nervous about independence and what that will look like for her. She does have an older sibling which brings us lots of comfort in knowing she will have a sibling once me and dad are not here. I also worry about the social aspect and her being bullied or feeling like she does not have friends. However, I am hopeful. I am hopeful that since we received her diagnosis early and have been receiving so much early intervention, that we have already put her ahead of what we would have ever imaged possible. She is also a little fierce girl and tries and tries things until she succeeds. I am hopeful that with improvements in medicine and technology, we can provide her the best life possible.
What kind of things does Jimena enjoy doing?
SO MANY THINGS. Jimena is truly the funniest baby (and I am not saying this bc Im her mom HAHA, so many people tell me this when they meet her). She has an incredible personality and is a fighter. She fought and fought to walk and accomplished it as such a young age! She is so playful and laughs all day with you. She finds ways to communicate with you and tell you what she needs even if she cant speak (its hard sometimes but amazing to see!). She is also a champ with all her specialists and doctors, she is always in a happy mood even after shes seen 3 doctors in a day. Last but not least, not going to lie, one of our favorite things is what an incredible sleeper she is ;). Also her sister wanted to add that: "she is really cute too"
Why is research & a potential treatment for PTLS important to you & your family?
Research is SO SO important and fundamental. I am not sure why more has not been done but we are ready to help anyway possible to help get more research going. I think there are research areas very lacking for PTLS. For example- speech. This is something the majority of PTLS kids struggle with. Why havent we tested and researched this more? What works for a normal kid who has a speech delay might not work for a PTLS kid. I think research will provide us answers and will be the only way to provide our babies with as much success and possibilities for the future as possible. Treatment is a big thing to think about and Im not quite sure that will be possible in our lifetime but starting the process for that would be amazing.