We have been blessed to have the same incredible team of therapists working with Curren since he was 9 months old. This was first covered through Florida's Early Intervention program, Early Steps, which offers services to eligible infants and toddlers (birth to thirty-six months) with significant delays or a condition likely to result in a developmental delay. When Curren turned 3, we were able to get medical coverage through Florida’s Children’s Medical Services (CMS Title 21), a Children's Health Insurance Program (CHIP) plan for children with special health care needs, which continued to cover Curren's 9 hours of weekly PT, OT, and ST. Curren's CMS coverage was critical to maintaining his therapy services at Ability Plus, since our private insurance through Cigna will not cover his services there. We are devastated to share that this is Curren's last week at Ability Plus due to loss of coverage, and despite intense efforts to appeal, Curren will not be able to continue seeing the therapists that have worked with him for almost 3 years now. There is no program in the state of Florida to provide the medical and therapeutic services that medically complex kids need (and private insurance will not provide) once they turn 3 if their families are found financially ineligible. These programs are not only necessary for assisting families with financial need, but also imperative for allowing access to services needed during a critical time of development when left otherwise without access.
To our caring and loving speech therapist - you were the first friendly face we saw when we walked through the door at Ability Plus with our 9 month old squishy baby. You taught Curren how to eat, and before your help, he could not swallow without gagging, choking, and crying. He was struggling with failure to thrive, and you helped him succeed during a time when his GI doctor was recommending a feeding tube. I remember worrying about Curren having a cake to smash at his 1st birthday, in fear that he would choke and cry and scare everyone. But he learned to chew and swallow, and Curren's first birthday party was magical. You have taught Curren how to express himself in his own way, and he is so much happier in life because of that. You have taught me not settle on expectations, and that we should be shooting for the stars. Curren is much more capable than he is often given credit for. Thank you for your commitment and investment in my son.
To our incredibly talented occupational therapist - you have such a unique ability to push Curren to work hard, but still all the while making everything fun. When Curren was little, he loved getting big squeeze hugs from you. You taught him so much, and opened our eyes to the world of spio suits, listening therapy, therapeutic brushing, and joint compressions. You cared so much that you even attended hours of Curren's first IEP meeting, to advocate for his services in the public school district. He lights up at home when we say your name, and almost always claps or blows kisses. He certainly has a special place for you in his heart. You have taught Curren how to play, how to feed himself, how to drink from a cup, and how to point - all things easily taken for granted, but are incredible gains that took years of patience and dedication. Thank you for your passion and determination to open difficult doors for Curren.
To our phenomenal physical therapist - you have changed the game for Curren. When we started coming to Ability Plus for OT and ST, I saw the impressive PT gym, and knew this was where Curren needed to be. When he first started seeing you, he was incredibly static, but through your guidance has now gained the strength and confidence to roll, push, creep, pull, step, and move to get from here to there. You always went above and beyond to get Curren everything that could help him - from hand making his own thera-tog suit (since insurance wouldn't cover it), to personal aqua therapy sessions in our pool. You were tough, yet encouraging, and pulled every ounce of energy Curren had into training his body to move, and most recently, helped him to really "find his feet". Thank you for giving the gift of mobility to Curren. He will only be going onward and upward from here.
To our intensive physical therapists - thank you for your rigor and determination. Spending 3 hours a day every day for 3 weeks with Curren has really changed the way he senses and uses his body. These programs were gigantic jumpstarts to take Curren to the next level. We will be walking sooner thanks to you!
We wouldn't have been able to start on this path without the support from our amazing case manager at Early Steps. You listened to me, and helped me to get all the services Curren needed. We are blessed to have been under your care, and you made a bumpy and unsure road feel much less daunting. Thank you for making Curren's early years filled with the best possible opportunities for him to learn and grow.
This team has been on this journey with us from the very beginning, and has provided so much love and support to Curren, from the office staff to the therapists. It is incredibly difficult to think about saying goodbye. Thank you all for making a difference in Curren's life.
I have been honored with an incredible opportunity - to represent the rare disease community in Washington DC during the 2017 Rare Disease Week on Capitol Hill. Hosted by Rare Disease Legislative Advocates, hundreds of rare disease community members from across the country will join together to learn about federal legislative issues, meet other advocates, and share their unique stories with legislators. I am thrilled to be participating in this series of events, and very excited to share Curren's voice (and many others, too!) with our Congressmen and Senators. My goal is to raise legislative awareness for the needs of the rare disease community, and address roadblocks in the development and access of critical treatment and management options. There are three specific issues that I will be focusing on during my trip, which not only impact the rare disease community, but also much of the general American population.
The first critical issue is the lack of treatment and management options. At three years old, Curren has seen over 20 doctors, and none of them have been able to prescribe any type of medication or treatment that has helped to manage any of Curren's symptoms. In fact, many of his symptoms are getting worse over time. This is not uncommon in the rare disease community. Statistics show that there are over 7000 rare diseases and less than 500 FDA-approved treatments for those rare diseases - that leaves 93% of rare diseases with no treatment or management options. Sadly, many rare diseases are terminal, and 30% of patients die before their 5th birthday, This skews the patient population so that over half of those battling rare diseases are children, There needs to be a stronger emphasis on orphan drug expansion, increasing FDA funding, and modernizing clinical trials to help those who are running out of time.
The second critical issue is healthcare policy. Up until last year, Curren was on private insurance through my employer, During that time, we were denied coverage for speech therapy (for a completely non-verbal child), physical therapy (for a non-ambulatory child), occupation therapy (for a child who cannot feed himself), ABA therapy (for a child with autism), B12 and folinic acid supplements (because they aren't FDA approved), spio compression suits (because of medical coding issues), and whole exome sequencing (because it wasn't "medically necessary"). That's right - Curren's genetic test that actually provided his diagnosis was found to be not medically necessary, even after appeal, and was not covered under private insurance. This decision was on the premise that the small chance of "meaningful" information resulting was not worth the cost, and regardless should not change his plan of care. I do beg to differ. Now we know that Curren has a lifelong disease that is due to a mutation in a gene, he will not "grow out of it" as some doctors said early on, and it absolutely does change his plan of care.
This past year, Curren was eligible for a state CHIP insurance program for medically complex children, and it has been a tremendous blessing, This program has covered all the therapies, adaptive equipment, and appointments that private insurance didn't. Because of our CHIP coverage, Curren has been able to go to the best pediatric rehabilitation facility in our county, get a wheelchair, see multiple specialists, get on a waiting list for ABA therapy, and much more, I am concerned that whether public or private, children with profound medical conditions and disabilities do not have access to the therapies and early interventions that will allow them to be their personal best in life. I know that healthcare is a very politically charged issue right now, and I don't want to get into politics in this post. I do, however, feel that whether conservative or liberal, we have a duty to protect our most vulnerable and maintain a system that allows children with or without complex needs the opportunity to thrive.
My last critical issue is one that really applies to us all, and that is one of advancing research. Where would we be without science? W. Edwards Deming once said, "without data you're just another person with an opinion." Whether in my professional life as an architect, or in a personal capacity as an advocate, data is needed to create a defendable foundation. Now more than ever, we should be removing barriers to increase research collaboration and investing in 21st century science, I have to say, I was not happy to see potential FDA commissioner Joseph Gulfos's position in his recent op ed, stating that he wants to see more research funding shifted to supporting treatments for obesity, diabetes, and cardiovascular disease, and away from rare diseases. I would first like to point out that rare disease research helps us understand medicine for all diseases. One of many examples being this story of a rare lysosomal storage disorder informing therapeutic targets for Parkinson's disease. Secondly (and selfishly), I am a bit offended about the idea that we would give up on diseases that primarily affect children that have no treatment or management options to focus on often lifestyle-related conditions that already have FDA-approved treatments. I am not trying to stir controversy, but I would be thrilled to have an option of surgery or medication or medical device or dietary change that would improve my son's quality of life - but unfortunately none of these are an option to me. I will be a squeaky wheel, as Joseph Gulfo points out, until my son has options available to him to make his life better. To give him the opportunity to speak words (and anyone that knows Curren, knows he has a multitude of words to say) . To give him the opportunity to walk (or run, or chase his brother), To give him to them opportunity to not be a "failure to thrive".
Please stand with us on February 28th, to show solidarity for the rare community. Alone we are rare, but together we are strong.
We have had such a busy and incredible summer. So busy in fact, that I did not create one post on this blog! It’s hard to believe that Weston is starting school this week and the summer is over. So in these last few moments, we will be soaking in the sun and the fun, and reflecting on this fantastic summer. Here are some of the highlights:
We attended the 18th Family Café Conference and Governor’s Summit on Disabilities in Orlando, and what a wealth of resources and connections for Florida families! My incredible family and friends came over and helped us cover all the great informational sessions that were happening simultaneously (these ranged from disability scholarships, assisted mobility, iOS accessibility features, tax benefits, IEPs, advocacy, and so much more). We heard a panel addressing Florida’s forward momentum for disability support, led by Governor Rick Scott, State Senate Majority Leader Bill Galcano, the Agency for Persons with Disabilities, the Florida Department of Education, and the State Surgeon General. I had no idea that this event even existed, and we were thrilled to participate and walk away so much more informed and prepared for the next steps in life.
Following the excitement of the Family Café, we participated in the events leading to the Port Canaveral Cove Merchant’s Association Mac Attack Fishing Tournament This year, the CMA chose to use the tournament proceeds to fund Curren’s participation in a specialized intensive physical therapy program at Ability Plus.My employer, BRPH, was a sponsor for the event and funded two boats to participate in the tournament.Despite tough weather conditions, the tournament was a great success. Curren will be starting the Intensive Physical Therapy Program in September, where he will spend 3 hours a day every day wearing a dynamic soft orthosis suit and work on muscle strengthening and active functional movements. At the conclusion of the 3 week program, we expect to see huge gains in hopes of Curren becoming independently mobile. We cannot thank the community and the CMA enough for coming together and supporting Curren in this incredible opportunity!
The boys also had their first horse riding lessons (or horsebacking as Weston calls it). Curren participated in equine assisted therapy, where he rode a horse with two side walkers holding on to his waistband (just in case he lost his balance). The repetition of the horses stride is calming, and absorbing the horses movement strengthens core muscles and increases balance. Curren has fallen in love with horse riding, and all the sweet staff at Walk on Water. I highly recommend equine therapy to anyone with developmental delays, physical disabilities, or autism.
Curren is building a large collection of adaptive tools and equipment at home. We installed a little ceiling mounted exerciser called a Merry Muscles in our living room, and Curren loves to jump and spin around in it. We also got a really exciting mobility device called the Upsee, which lets children with motor impairments stand and walk with the help of an adult. It’s a harness system that attaches to my feet and hips and let’s Curren see the world standing up. We also started see a new orthopedic specialist, who fit Curren with AFO leg braces to give him more stability when standing. He was not a fan at first, but he is doing so incredible with this additional support now! Our living room also has several new “furniture” additions – a chicken and an elephant from bobles, a Danish product line aimed at stimulating imagination and developing motor skills. We are also anxiously anticipating the arrival of Curren’s wheelchair, which should be coming in the next month or so.
And now, for the changes on the horizon! Curren will turn 3 next month, and will be phasing out of the Early Intervention program. I cannot say enough incredible things about our experience with Space Coast Early Steps. My heart is just overwhelmed with the support that has been provided to Curren by our team of therapists, the local community, and our Early Steps case manager. The experience that Early Steps provided Curren has built a solid foundation and has honestly changed Curren’s trajectory in life. As sad as we are to close this chapter, we are thrilled to have Curren start in an Early Exceptional Learning Program at a local public school. He will be attending class 3 days a week, and will get additional therapies at school.
We are also preparing for an upcoming trip to New York, where we will meet with the senior author of the most recent HIVEP2 medical publication. We are hoping to learn more about HIVEP2 and how we can further help Curren. We can't wait to see what Dr Chung can do for Curren - she seems like a truly incredible doctor!
I hope that everyone is (mostly) ready for school and has a wonderful fall! It’s so sad to see summer come and go, but the future is looking so bright!
A lot has happened in the past week or so. First, I can't even begin to explain the overwhelming support that my family has felt since we received the news of Curren's rare genetic syndrome a few weeks back. There are so many awesome people in this world, so thank you to all from the very bottom of my (exhausted) heart! There have been many ups and downs this week, and I want to share with everyone the good, the bad, and the ugly (but especially the good)....
The incredible news is that we have been able to make an appointment at Kennedy Krieger in the Neurogenetic Clinic to see two of the doctors that contributed to the recent medical publication on HIVEP2 mutations. There is a fabulous person that helped us get our foot in the door, and lots of recommendations from people to start there. We are beyond excited to talk to doctors that are familiar with researching HIVEP2 mutations. We are also trying to set up appointments at Johns Hopkins that would coincide with our visit to Baltimore. Fingers crossed....
On the topic of good news - here's a bunch more. Curren had his 6 month re-evaluation this week with Early Steps and he is going to be authorized for an additional session of speech therapy and occupational therapy a week. We are really looking forward to the extra help! Curren also had an appointment this past week to have new orthotic braces made, which is fabulous news because it means his feet are finally growing. We were also assigned a case manager through our insurance company this past week. She seems super fabulous, and I think she will be a great asset to us - as we very frequently have claims denied, and some of Curren's very best therapists and specialists are out of network and currently not covered by insurance. And we also had a initial appointment with the Scott Center for Autism this week. We're hoping that the behavioral therapy they offer will become available to Curren to help with some of his frustrations.
So, on to the not so good - we got a call from the preschool the other week that they were afraid Curren was having a seizure. He was playing in the gym and just fell over. His body went completely limp and he had a staring spell for a few minutes where he wasn't able to focus or look at anyone. On our pediatrician's recommendation, we took Curren to the local ER, where we had some really good, and some really not so good experiences. What we found out was that Curren's blood sugar was at 40 when we arrived. He also had very low CO2 levels, and was diagnosed with acidosis (his metabolic pH level was more acidic than it should have been). They had an awful time getting an IV in his body, and from this point began blood sugar monitoring every 1-2 hours (which was also awful, but necessary). Curren did magnificent in his CAT scan, he laid completely still as a statue, and the results of the scan were normal. The local hospital got in touch with our Neurologist at Nemours, and the verdict was that we needed to be there. Curren was transported by ambulance to Nemours, so that he could be in the best hands at the children's hospital.
It was great that we were in such good hands. What wasn't great was the fact that people kept coming in to our room every 30 minutes or so, usually to poke Curren. And when there weren't people in the room, his alarms were going off every couple minutes or so. I don't think either one of us got more than 15 consecutive minutes of sleep through the night. Curren began an EEG in the morning, to see if any more seizure activity could be recorded. His CO2 and blood sugar slowly stabilized throughout the day, and we saw no seizures. There was, however, a new area of his brain that showed seizure-like activity - this time it was his left temporal area (in addition to his left occipital area). At the end of the day, everyone decided that all the numbers were stable enough and we could go home. This was fabulous news, considering Curren was basically miserable in the hospital - between all the wires and the constant pokes, he was completely skeptical of everything and everyone in the hospital.
So on to more good news - we followed up with our pediatrician after the hospital stay and Curren's blood sugar was perfect. We don't really know if a seizure triggered low CO2/acidosis/low blood sugar, or if low blood sugar triggered a seizure. But either way, things have been much better since the hospital. We have been feeding this guys every 1-2 hours to be on the safe side, and things have been great.
Aside from the hospital encounter, it hasn't been the most wonderful of times. I am still trying to wrap my head around the genetic diagnosis we received a few weeks ago. I have been googling my brain out, and reading some scary things. I wish that life could go on hold for a few hours (or just maybe a couple minutes?) so I could get a chance to catch my breath and focus, but there is a 2 year old and a 6 year old, and a +full time job, and laundry, and a gluten-free/dairy-free diet prep for the week, and homework. I don't know what the future will hold. Will my littlest require 24-hour care for the remainder of his life? Based on the information I have today, it's probable. Do his genetic condition predispose him to some nasties? Seemingly so. But I have a fabulous smiling face, and that's truly all I need. I will go to the ends of the earth to find options to allow him to be his personal best. And that's the next chapter...
Curren was spectacular at therapy today. There have been days that we have questioned if our intensive efforts are paying off, but today was not one of those days. And I have to say that Curren's therapists are truly spectacular, too. His physical therapist actually made him a unique suit that resembles a TheraTogs wearble therapy garment from neoprene and strong velcro straps. The suit promotes trunk and joint stability, provides sensory input, and corrects alignment and posture. And he took off with it! Curren crawled reciprocally with minimal prompting and support for the first time, and he went about 6 feet! I am disappointed that I missed it, but am so thrilled that dad was there to cheer him on!
Curren's Monday's are really action packed. He has speech therapy at 8:00, where he works on feeding skills, receptive language skills, and expressive communication through speech, signing, gestures, and imitation. At 9:00 he goes to occupational therapy, where he focuses on fine motor, gross motor, and visual motor development. He also does lots of sensory integration exercises, such as listening therapy, spio compression suit therapy, therapeutic brushing, and joint compressions. And at 10:00, he ends the morning with physical therapy, where he's been kneeling, rolling, army crawling, and working on mobility with adaptive equipment.
Therapy is such a critical part of Curren's daily routine. We learn so much from his therapists, and replicate their work at home. We receive therapy through Early Steps, Florida's Early Intervention Program and are so grateful for the services he receives.
Early Steps is Florida's Early Intervention system that offers services to eligible infants and toddlers (birth to 3 years old) with significant delays or a condition likely to result in a developmental delay. Early Intervention is provided to support families and caregivers in developing the competence and confidence to help their child learn and develop. If you are interested in learning more about your state's Early Intervention Program, please check out the link below and search for your state:
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.