Rylee's new doctor appointment

We met Dr. Wright today.  There was a lot of information that needs to be digested.  She brought in the stack of 800+ pages of medical records.  I mean, really, this was a ridiculously large stack of paper.  She listened to Rylee's heart and lungs, felt her tummy, yada yada yada.  But mostly, we just talked about the various tests that Rylee has had and what needs to be done, addressed a few issues.  Together we have decided the following:

In the future, we need to see:
Pediatric Cardiology specialist at AFCH (American Family Children's hospital)
Pediatric Pulmonary specialist at AFCH
Pediatric Ophthalmology at AFCH

We will decide in latter appointments if we need to see a Pediatric Orthopedic specialist at AFCH.

Right now, we are scheduling a plethora of appointments.

In the next month or so we are going to visit:



Developmental Disabilities & Child Development Clinic at the Waisman Center

The Developmental Disabilities Clinic offers specialized diagnostic and assessment services to persons who have, or are suspected of having, developmental problems. This includes such concerns as developmental delays, need for educational programming, challenging behaviors, or disorders of communication, motor, or social-emotional development. Assessments are provided by specialists who work closely together to provide comprehensive and integrated evaluations. Family members and community personnel have an important role on this team; their input, questions, and opinions are indispensable. As a part of each evaluation, family members and staff meet together to review findings and formulate recommendations. 

During this visit, we will visit with someone, I am not exactly sure who, to have Rylee's physical delays, cognitive delays and developmental delays assessed and decide the best plan of action for her.  Dr. W doesn't agree that physical therapy, occupational therapy and speech therapy is only visiting Rylee a total, between the 3, of 4 times a month. So we will meet with the Development Clinic and then either they or we will talk with the Birth to 3 therapists that are doing Rylee's therapy now.  I am going to call Tammi the coordinator of the Birth to 3 tomorrow and talk about the meeting with Dr. W. 

Genetics Clinic at the Waisman Center

 The genetics staff, consisting of physicians and genetic counselors, provides services to persons who have genetic disorders or birth defects and to their families. Services include a General Genetics Clinic, which functions principally in diagnosing the cause of complex processes, as well as several specialty clinics and special programs. Specialty clinics include the Bone Dysplasia Clinic (disorders of bone growth), Sensory Deficits Clinic (deafness and blindness), and the Cancer Genetics Counseling Program. Other special programs include a stillbirth assessment service and a teratogen information service. In addition, counselors are involved in clinics serving families with members with clefting, cystic fibrosis, Prader-Willi syndrome, etc. Finally, the genetics staff travels to outreach sites throughout the state, where they provide clinical care, as well as education and training for professionals and the public. 

I am hoping that at this appointment we will find out more that Chromosome 6 deletion that Rylee has. 

Gastrointestinal Specialist at AFCH

This is the appointment that we are having rushed.  We are going to see them next Tuesday morning.  Dr. W is concerned about the vomiting.  Right now, getting the vomiting under control is the first priority.  She also wants Rylee to see at GI nutritionist.  We are going to try to figure out why Rylee is so small.  Is it because of the chromosome deletion? or her nutrition? or a GI problem? or Thyroid problem?  We are going to find out.  It may take a while but gosh darn it we will figure this girl out.


One of the things that Dr. W had talked about what a feeding tube.  I knew it could come to this and we have been lucky so far to avoid it.  I am afraid we are at the point that a feeding tube is unavoidable.  I am alittle numb over this.  I just want Rylee to grow and thrive and be the happy little girl that she is and not be so sick.  She doesn't deserve to be sick.  It's not fair that she has all these problems.  We are going to conquer these.  I am 100% positive of that.  It's baby steps.  But we will overcome these!  She's a fighter.  She's stubborn.  She's just like me so I know she won't give up!