New Hope and A New Set of Wheels

New Hope and A New Set of Wheels

Here are the updates on Elizabeth for the past week.  We have some newly hopeful news about her blood counts, a new mode of transportation, and some other positives to report. This was all good news in the midst of a horrific week. We unexpectedly lost our dear nephew, Chase, on Sunday.  He was a bright, talented, loving, kind, amazing young man, and his loss was devastating news to all who knew and loved him. Elizabeth has a big day of appointments on Monday, the 29th, at Children's, and that also happens to be Rare Disease Day. So, I will post an update later next week about the results from the appointments and tests on Monday, as well as why we celebrate Rare Disease Day, and what that means for our "Rare" Warrior Princess Elizabeth. 

Hematology and New Hope:

Elizabeth started receiving Iron Sucrose infusions earlier this month.  These infusions are to help to keep her iron levels within normal ranges, and to also help keep her hemoglobin levels up.  Her doctors suspect that she has an internal bleed, which is responsible for the dropping and unstable hemoglobin levels. They doctors were concerned last week about her hemoglobin counts being too low, and they were suspecting that she may have needed a blood transfusion this past week.  However, we are happy to report that on Monday in the Hematology/ Oncology Infusion Center that her Hemoglobin counts were within normal limits, and this meant that she would not need a blood transfusion.  This was very exciting news, not only because she didn't need a transfusion, but it was also an indication that the Iron Sucrose Infusions were working to keep her iron and blood counts up and within normal limits.  So, Elizabeth had her second Iron Sucrose infusion at Children's on Monday (Feb 22), and she did great.  Once again, she had no reactions, and so we will return on the 29th for her third Iron Sucrose infusion. She is scheduled for a fourth infusion, and after that how many or how often she will be getting the iron infusions will depend on her lab work and blood counts.  It is possible that I can do the iron infusions here at home, since I do all of her other meds/ central line care.  So, in the future if she needs additional or frequent iron infusions, then I will at some point be doing them here at home.

A New Set of Wheels:

After leaving Children's, Elizabeth had a second appointment at The Children's Institute in Squirrel Hill. This appointment was for an equipment evaluation for Elizabeth to determine which adaptive equipment would help her become more mobilized in her environment.  She is starting to walk and take steps with the assistance of a forward rolling walker, but she gets tired very easily.  She also gets more fatigued as the day goes on, which is common with individuals with Congenital Myasthenic Syndrome. She so badly wants to follow her brother around, and to be more involved in our daily activities, but it is very hard to carry her everywhere when she is too tired to walk or crawl.  We use a stroller in our house quite often, and we push Elizabeth around to where we are in the house. We had an equipment evaluation for Elizabeth last fall at the Children's Institute, and it was very helpful.  At the visit last fall, we decided that a gait trainer would be beneficial to help Elizabeth learn to walk and take steps.  The gait trainer helped tremendously, and she now is ready for the next step.  

The evaluation was very productive and helpful. I love the Children's Institute.  It is an amazing place.  The staff is always so helpful, and kind, and they have been a huge help in getting Elizabeth the equipment that she needs to be engaged in her environment in the best way possible.  Elizabeth's PT, Jenna, also attended the evaluation with her student.  My mom was also there, and we met with Miss Terri and the representative from Blackburn, which is a company that sells adaptive equipment. We discussed Elizabeth and her needs, and then we were able to try out different types of equipment for Elizabeth.  The evaluation resulted in us choosing a power wheel chair for Elizabeth, and we choose hot pink, of course!  We took her out in the hallway, and she immediately picked up on how to use the joy stick.  She practiced driving to my mom and I, and the look on Elizabeth's face was priceless. She was so excited to be able to move around and get to where she wanted with such ease.  Although we ultimately want her to walk as much as possible, it is not possible at this time for her to walk everywhere she wants to go.  It also may be a very long time before she has the strength to do so.  The power wheel chair will not prohibit her from walking.  In fact, she can get out of the chair and walk, with the assistance of her walker, anywhere she wants to or is able to walk.  The nice thing about the wheel chair is that when she is tired from walking, is too weak to walk, or when she just needs a break, she can sit and still be able to move around. It will be great for her to have in school, and at home, and it will be a huge help for us becoming more active in the community with Elizabeth.  So, our warrior princess has a new set of wheels on the way!  

The power wheel chair will take about 90 days to get here.  This is how long it takes for the insurance to get on board with paying for it, and then for the manufacturer to make one for Elizabeth according to her specifications.  The chair that we chose is made in the USA, actually right here in PA, so it shouldn't take long to get it once it is completed.  I will need to get a ramp for my van to load and unload her chair, which is not covered by insurance, but our van can easily haul her chair.  Right now, we are not going to have our van adapted, but in the future, we can have our van modified so that she would be able to use her wheelchair as a car seat by having the seat lock into our van.  In fact, she will be transported to and from The Western PA School for Blind Children each day in her wheelchair, as their buses and vans are modified to be able to do so.  We are really excited for all of the possibilities that Elizabeth's new set of wheels will provide for her.  I envision her chasing her brother through the house, and I sincerely hope that happens. 

What's Next?

On Monday the 29th (Leap Day AND Rare Disease Day), Elizabeth has a very long day at Children's in Pittsburgh.  She will start her morning off with an Iron Sucrose infusion in the Hematology/ Oncology Outpatient Infusion Center on the 9th floor.  Then, we will check into Radiology on the second floor.  There, she will be prepped to be put under general anesthesia.  Once she is under and sleeping, then she will have an MRI of her brain and an MRI of her abdomen.  Her doctors would like her brain MRI repeated to see if any of the congenital brain damage they observed on her initial brain MRI has changed or gotten worse in any way.  They are also looking for any new changes in her brain that could be explaining some of the new muscular and neurological symptoms that we are seeing in Elizabeth.  The MRI of her abdomen is to look for Crohn's Disease, a fistula that is connecting from the intestines/ rectum to the uterus/ vagina in order to explain why she has stool exiting from her vaginal area, and to also look to see if they can identify where she is bleeding from internally.  We are hoping the MRIs provide answers for her and for us, and that whatever they see, if it is able to be corrected, that it can be corrected with minimal risk to Elizabeth. We will finish up at Children's that day with an appointment in the Genetics Department to discuss the recent findings on her Exome Sequencing that revealed a genetic disorder caused by a mutation of the SON-Gene.  Elizabeth is reported to be the 5th case in the world with this genetic mutation, but we are hoping to learn what we can so we know how to best help her. I will update next week on what we find out. Thank you for reading, following, and for praying for our sweet girl. It means so much to us all.