2 Years
Two years ago today, Emmery received her diagnosis. This day is always difficult. It makes me think back on the worst day of my life, so I always try to give myself a little bit of grace on February 8. I try to take some time to do something for me. And it honestly makes me play with my kids a little bit harder and a little bit extra. So much has happened in the past 2 years, and it’s hard to believe that Emmery (and Maddox and Brody too) is getting so big!
Here are some updates since my last blog post:
-I mentioned an ASO treatment that had already been created for another child with KAND. We had Emmery’s blood drawn to see if she would be a match to receive this treatment as well. We got the news last month that she is not eligible to receive this treatment. We were extremely disappointed. However, there are some other people with KAND that are matches to have the ASO treatment, and we are so happy for them.
-After finding out that, I decided to email Dr. Chung (the doctor that knows the most about KIF1A and is in charge of the KOALA Study that we participate in) and ask if she would be interested in applying to N-Lorem to have her own ASO treatment developed. She said yes! She put us in contact with her Nurse Practitioner, and we actually leave for Boston on Sunday to meet with Dr. Chung and Joanne so that they can do a thorough evaluation of Emmery so that she can then submit our application. We are excited, but we also know that if we do get accepted, it will take at least 18 months for the drug to be developed. N-Lorem pays for the medication development, but then we will be left to pay for all of Emmery’s hospital stays, the actual administration of the drug, and anesthesia (remember this one has to be administered once every two months in Boston). And unfortunately at this point, insurance won’t cover anything as this is all deemed experimental.
Here are some developments that Emmery has achieved in the past year:
-She talks SO MUCH. Her speech has gotten so much better. She can sing songs, says sentences, and repeat just about anything we say.
-She has gotten SASSY and opinionated, and I just love it so much.
-She tells us “I love you” unprompted.
-She is still VERY obsessed with babies (baby dolls or real babies). She even still calls Brody “Baby”.
-She goes to school 5 days a week now for 4 hours a day. And in the fall she will go 5 days a week for a full day (and Maddox will get to go to her school, which makes my mommy heart happy). She loves school, her teachers, and her friends. She’s so social, and her teachers tell me that she is a little celebrity! Everyone wants to play with her.
-She sleeps in a big girl bed now! She and Maddox still share a room. I was very worried about this transition for her because I was afraid she wouldn’t be safe. She still falls often, but so far, she has done SO well!
-She has had a few hippotherapy sessions! Horseback riding is great for kids with special needs. It helps her work on her balance, core strength, and coordination. She loves it.
-She got fitted for her first wheelchair. This one was difficult for me. No parent wants to see their child in a wheelchair. While she does well with her walker, there are times when she just needs a wheelchair: for longer distances, when she needs to keep up with the pace of other people, and when she just gets tired.
This is what her therapies and doctor’s appointments consist of:
-She continues to get PT, OT, and Speech Therapy at school AND also outpatient once a week. Her therapists are all so very wonderful, and we love them so much.
-She continues to go twice a year to see her Neurologist, Developmental Specialist, and Ophthalmologist. She sees her Orthopedist once a year. She also get her botox injections in her legs once every 3 months along with follow up visits in between each injection appointment. This is 15 specialty appointments per year!
-We will continue to go to Boston (used to be NYC, but Dr. Chung moved her lab to Boston Children’s Hospital) once per year to participate in the KOALA research study.
Once again, thank you so much to every single one of you for supporting us and following along with us on our KAND journey! We love all of you, and we appreciate you more than you will ever know!
