That isn't how RARE diseases are supposed to work!

A rare condition is uncommon. Not a lot of people have it. Not a lot of people have even heard of it. And as a caregiver, you have to be super informed because even specialists haven't seen many cases. Thus I have learned every thing I can about congenital myotonic muscular dystrophy.

Imagine my dismay last week when I received a call from genetics letting me know the results of further testing on Josephine. She has not one, but at least two, rare conditions. And now I begin the task of learning everything I can about CDKL5, her most recent diagnosis. Yes, you read that right. My sweet girl has two rare genetic diseases.

She also has Gray Matter Heterotopia. This doesn't appear to be associated with either of the other two conditions. It is more likely to happen when other genes go awry though.

Each of the 3 conditions alone can cause physical and cognitive impairments along with other health issues. What does this mean for my girl? I don't know. There may not be anyone else out there with this combo, so I have no point of reference.

Best Day Ever... unless you have a disability

Josie and I went to the local amusement park today. Their slogan is "Best Day Ever" but that doesn't apply if you have a disability. This is the third time I have been there and had issues with employees not understanding or following the disability policies of the park. I always go to guest relations to clear these issues up on behalf of my daughter and every other family that may have similar issues. So that is 3 visits with 3 disability access issues, 3 apologies from management, and 3 times I have been told the employees are in the wrong and will be retrained. Why does this keep happening?  Were they not trained properly the first time?
I left the park in tears for the second time (didn't cry on one of the 3 visits) with their promises to do better ringing in my ears. I know they don't understand the importance of this in our lives. They don't get that the things she can do are restricted enough already without being further limited by uniformed employees. They don't get that it is a fight and a struggle every day to make her life as unlimited as possible. They don't understand how important that one day at the local amusement park where I can just enjoy my time with my daughter and make happy memories means so much to me.
To their credit, the first day I ever took her about a year ago was wonderful. Everyone was informed and things went smoothly. I spoke glowingly of the experience. I shared pics and left a great online review. We can't seem to get anything even close to that again. Every return visit has had at least minor issues, sometimes major. These are not the sort of memories I want to create nor the experiences I want to have while there or anywhere.
I try to do the right thing. I advocate. I speak up. I hope for better next time. But sometimes I just want to go and have a good time with my daughter. I left that park today feeling physical pain in my chest, literal heartache, for my girl.

Busy week

Josie and I had a successful trip out to Utah at the beginning of the week. I hate traveling with all of Josie's stuff, but I love it once we arrived. Despite calling ahead to the airport, we had a bit of trouble getting the disability assistance we had arranged previously. I find the airport staff and TSA difficult to deal with and the flight attendants on the plane super helpful. She cried a bit on the way home, but once we landed, 3 other passenger offered kindness or assistance.
Her medical study only took about 4-5 hours. We were there for 2.5 days. We went to the The Porcupine Restaurant, the zoo, Red Butte Gardens, and The Natural History Museum. It was wonderful seeing lots of the local sites. I was extremely organized with her food and medical supplies, so it all went pretty smoothly while we were there.
At the end of the week, I had my older daughter's graduation party. I can't believe high school is behind her now, and she goes to college orientation tomorrow.  All 4 of my kids were home together which doesn't happen very often and makes me so happy. The party went smoothly though it was super hot as we set up at the park. I loved seeing her have fun with her friends. They played on the same playground equipment she has been playing on since she could walk and they went down the hill and waded in the creek. My friend brought her daughter who just turned one and started walking earlier this week. I spend a lot more time with kids who are not typically developing, so I was fascinated watching her walk and play with her baby doll. Many little kids don't pay much attention to Josie, but this little sweetheart held her hand and patted her leg and just wanted to be near her. I loved seeing them together.

I spent today packing to take Josie on a 3 day 2 night trip. I mean that literally, I spent the whole day packing for this. It is just the two of us, but she requires a lot of stuff packed in as little space as possible so I can handle it all plus her by myself. I made a list of things that need put in the medical suitcase that I can't pack yet. I will spend every moment between now and the minute our plane departs worrying I will forget something crucial. I am proud that I have managed to fit it all in two carry ons, a small feeding pump bag, and a small diaper bag. And we have a portable oxygen concentrater that is as big as a carry on. She is strictly g-tube fed and on oxygen and a pulse- ox at night. The oxygen items will be really important because we will be in Utah were the elevation is higher and it is more difficult to breath if you aren't acclimated to it. Josie is participating in a study for kids with congenital myotonic muscular dystrophy. They check year to year how the child is doing. Like many things with Josie, it is a little difficult.  Last year the testers didn't understand CVI at all and tried to get her to visually track and grab objects while I tried to explain that while her eyes work, her brain didn't process what she sees. I have some seen improvements physically and cognitively for for her since last year, but I don't know how much the testers will see. She is so far behind most other kids with this condition. I hope they know what Gray Matter Heterotopia is so I don't have to explain that too much. The thought last year was that she would be vastly improved and maybe somewhat mobile by the time she came back this year. She still isn't holding her head up well, much less mobile. They really stressed the importance of therapies. Josie has 8 therapists, and I work with her extensively every day on our own. I don't think there is any more that we can do, and hopefully it is understood that she will progress in her own way in her own time and not see it as a lack of effort. I am nervous but excited to go.

Keto & Seizures, so many ear infections, & preschool prep

Josie has been on the keto diet for almost 2 months for seizures. It took some time and experimenting to get her in ketosis, but we have been there for about 2 weeks. I was pretty excited because Josie went 19 days without having a seizure until a mild one last time. It was over so quick and she didn't cry. I was hoping to eliminate the seizures, but one 5 second seizure in almost 3 weeks isn't bad. Hopefully her epilepsy neurologist will still allow medications weaning to begin.
I feel like Josie has been more alert recently. She had a pretty bad sinus issues last week, lots of mucus coming out her nose and being coughed up. Despite that, she has been pretty alert and even played with a toy. She picked it up and put it down, grasped it and let it go, and moved it around on her tray. This is major for her. She even did it 2 days in a row. Frequently she will demonstrate behavior and then not again. She was also intentionally batting a ball suspended in front of her today at her group therapy center.
We have battled ear infections for much of her little life. She has had tubes placed twice and is set to have it done again in July. Her ears bleed every time she gets an ear infection now. My youngest son got just as many ear infections, but they never bled and they stopped once he had tubes. I am hoping she outgrows it like he did. I remember getting them as a small child and they really hurt. There was blood coming out of her left ear this evening. This is the second time this month. She already had a round of antibiotics and antibiotic ear drops.
We met her teacher late last week. I adored her, and she seemed to adore Josie. I am so nervous about the idea of sending her to preschool in the fall, but everyone I have met during the process so far makes me feel more comfortable with the idea. As long as I can feel sure they can medically handle her, I am leaning towards actually doing it. I have already offered to volunteer at the school so I can be in the building even if I am not in the room with her. She will be in the octopus room! 
Here she is actually playing with the octopus toy I bought her.

Introduction Time

Where to start? I'm 40, a SAHM, married, and have 4 kids, and one dog. Some of the kids aren't kids anymore. I have a 21 year old son in college. My oldest daughter just graduated high school, will be turning 18 in a little over a month, and starting college in the fall. My younger son is turning 16 this weekend. Then there is Josephine. She was a surprise that came along soon after I married my second husband. She will be three in August. I was initially dismayed to find myself starting over after all that time, but the dismay turned to joy quickly. I adored raising kids.
It is a little out of the ordinary to space kids that far apart and more so for my husband. His other "child" is 33 and has 3 kids of her own, one very close to my youngest son's age. The spacing isn't really anything to blog about though. What makes my family a little different is that my 2 year old is medically complex. We found out at 37 weeks pregnant that there was a health issue that hadn't showed up on the genetic testing given to mothers of "advanced maternal age."
I could try to catch readers up, but my little girl and our family have been through a lot in the 2 years and 10 months since she was born, so I'll summarize for now. It will still be a lot of info. At 3 weeks, Josie was diagnosed with congenital myotonic muscular dystrophy. She was still in the NICU where she would remain until she was a little over 4 months old. She inherited it from me. I have a much less severe form. My older 3 kids all tested negative and can't pass it on. A lot happened in the NICU. She coded (stopped breathing and had to be resuscitated) twice. She had surgery to bring her jaw forward to open her airway, seizures, MRIs, sleep studies, g-tube surgery, and more. I was so happy to bring her home. I thought I understood what we were dealing with. Doctors told me she would eventually walk and talk, maybe even read and write. It would take time, years even. And then she would deteriorate in her teens. But cures were on the horizon. It was hopeful.
I got her home. It was overwhelming. She was g-tube fed, on oxygen via cannula, on a pulse-ox, and on seizure meds. I got into a daily routine and organized our new life. She had lots of appointments and that medical equipment came everywhere with us. I connected online with other parents with kids like Josie and learned so much. Some kids did walk and talk and even read and write. Some aren't there yet but could be later. And some parents had lost their children to this condition... newborns to kids in their 20s.
Clubfoot treatment began- casting and bracing and another minor surgery. Even minor surgeries have concerns due to anesthetic cautions with her condition. The typical clubfoot treatment was horrible for her. Her skin was always tore up and broke down. She wouldn't keep bracing on, just wiggled and kicked out. Currently we have braces for weight baring and do stretches. This isn't standard clubfoot treatment, but she isn't a standard kid.
Therapies were set up. These take up a lot of our time. I enjoy them though because it is a group therapy setting. I have met many wonderful kids and parents this way. When we aren't at therapy, we are doing therapy at home.
She was diagnosed with CVI. It is a vision issue. Her eyes work fine, though she needs glasses. The problem is that her brain doesn't process what she sees properly. It is bad news, but the good news is that she can learn to see. I threw myself into learning how to teach her to see, added a vision therapist, and included new things in our already full daily routine.
There were hospitalizations for illnesses and minor surgeries that aren't always so minor for her. I pack a bag to stay overnight now with every unplanned ER visit.
Seizures, which were under control, became active again. We tried different meds. Some helped, some didn't, and others knocked her out for 22 hours a day. We are still in the midst of figuring this part out. I have questioned all along why my daughter seems so much more severe than other kids with her condition. The vision issue and the seizures are not typical. She doesn't hold her head up yet and doesn't reach for toys or even hold onto toys I put in her hand. I pushed for answers and found the seizures where tied to "Gray Matter Heterotopia." That means when the gray matter of her brain was forming, it didn't expand out like it was meant to and instead there were clumps of gray matter instead. This explains the seizures and probably the severe physical and cognitive issues. That is where we are today, looking for more info on the GMH.
What does all of this mean for Josie?  Her delays are probably more likely impairments. Delays imply she could catch up. Impairments leave room for improvements, but there is no catching up. We have no idea what she is capable of and what she understands. She understands many things though her physical issues make it difficult to know just how much. She can do a few signs to communicate, she has said a word here and there, she will follow a few instructions, she definitely knows when I am not present and yells for me to come back, and she is mentally present. She wants to be where the people who love her are and can be bossy without saying a word. She will tell you when she does and doesn't like something, but is pretty laid back most of the time. She can do things, and will do things, but she will never do anything for show just because someone wants to see it.
I will probably touch on more of the above topics as my blog progresses as well as update on how things are currently.
The blog is not only about Josie. It is also about being Josie's mom while being a mom to my other kids, a wife to my husband, a daughter, sister, family member, and friend, and just trying to be me when I can fit it in there.