Torticollis & Physical Therapy

Avery has Torticollis (a condition where her head is tilted toward one side and the chin is elevated and turned toward the other side). This is treated with Physical Therapy, daily stretches and positioning techniques. We caught it early and it should be easily fixed. We will go to Physical Therapy twice a month until it goes away. If not treated, she may get a flat spot on the back of her head causing her skull & face to become distorted.

Geneticist

We just met with the Geneticist and she does not believe there is any correlation between all of her heath issues - what a relief! She believes the Craniosynostosis and her unwillingness to turn her head to the left are due to the fact that she may have dropped in my pelvis during pregnancy early. Her head may have been squeezed in my pelvis which didn't allow the skull room, therefore fusing. Her head position at that time may also be why she favors her right side.

She believes that the tumors and SVT have nothing to do with her other issues. She also believes (as do many of the other doctors) that the tumors are benign and not ominous at this time. The issue will be if they are growing. Our MRI is scheduled for January 4.

The Craniofacial Plastic Surgeon told us during the appointment that he put in the paperwork for surgery and suggests doing it around March/April.

Pediatrician & Physical Therapist

We had a regular check-up today. Avery is having difficulty turning her head to the left, so we were referred to a Physical Therapist. They do not believe this has anything to do with the Craniosynostosis or the Tumors at this time. With some exercises, she should be able to turn her head properly.

We scheduled the MRI for January 4, 2009, at which time we should know if the tumors are growing or not.

Tumors and Next MRI

December 14, 2009: The Ocular Surgeon called us today to inform us that Avery will need another MRI, for which she will need to be sedated, in January 2010. This MRI is to check the growth of the tumor behind her eye and to check the growth of the tumors in her brain. Originally we were informed the tumors were outside her brain, but today it was confirmed that they were in her brain. At this point, the tumors look benign. The issue will be if they are growing or not.

Ocular Surgeon

December 12, 2009: We met with the Ocular Surgeon and he wants her to wear an eye patch on her left eye 1 hour per day to keep the strength of the right eye. He checked both optic nerves and there is no damage at this time. There is a concern about the tumor behind her right eye causing pressure on her globe, so she will be monitored by an Opthomologist closely. In addition, the Craniosynostosis will require close monitoring of her eye. The tumors behind her eye and around her brain appear to be benign, but until a biopsy is done, we will not know what they are for sure.

Neurosurgeon

December 3, 2009: We met with the Neurosurgeon and he confirmed that she has Craniosynostosis and will require surgery. He recommends doing it at 6 months of age. He also referred us to an Ocular Surgeon to determine what will be done about the unknown tumor behind her eye. We were also referred to a geneticist to determine if all her medical conditions (bone, brain, eye, heart) are indeed unrelated, or if they are part of a syndrome. Lastly, we were referred to a Neurological Oncologist who will determine what to do about the unknown tumors around her brain.

Craniosynostosis Diagnosis by a Cranialfacial Platic Surgeon

November 11, 2009: Our first appointment with a Craniofacial Plastic Surgeon was full of new information and new medical issues for Avery. As soon as he saw her, he let us know that she has a congenital birth defect called Craniosynostosis. This diagnosis was incredibly hard to hear, especially given the only option for treatment.

Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses. This results in restricted skull and brain growth. Because the brain can not expand in the direction of the fused suture, it is forced to grow in the direction of the open sutures, often resulting in an abnormal head shape and facial features. This is why her right eye appears to be bulging.

The only way to fix this is by doing a craniotomy. This will likely need to be done when she is around 6 months of age for optimal results. Her head will be cut open from ear to ear with a zigzag incision over the top of her head. Then they will peel back her scalp, separate the skull into several pieces, reshape the skull, and put it back together with dissolving plates and screws. Her eyes will be swollen shut for 3 days, and her head will also have major swelling & bruising. She will remain in the hospital during this time.

We are not looking forward to this time in our life, but looking forward to resolving one of her medical issues. The surgery has been done by our team of surgeons many times, and 85% of the time has optimal results.

MRI & CT Scan

October 29, 2009: She was admitted to Rady's Children's Hospital for an MRI on her brain. Due to her age, she was sedated and had to stay overnight. It was very nerve wracking to have her be sedated. It is something you never want to have done to your newborn baby. An hour after her MRI, we were informed that they found unknown growths behind her eye and 3 around her brain. A CT Scan was done that night to get a better look.

We were discharged the next morning and had scheduled appointments to see a Craniofacial Plastic Surgeon, a Neurosurgeon and a Ocular Surgeon.

Born on October 14, 2009

While I was pregnant with Avery she had SVT (Supra Ventricular Tachycardia). I was put on medicine (Digoxin) to keep her heart rate stable. I was monitored 3 times a week and hospitalized 3 separate times since she was diagnosed at 27 weeks gestation.

She was born on October 14, 2009 (7lbs 9oz) with no signs of SVT. She was in the NICU for her first day of life to be monitored. At 1 week old she had a Echocardiograph and EKG and was officially cleared of her heart condition.

At 2 days old, she was diagnosed with Unilateral Proptosis (bulging right eye). She had ultrasounds done on her eye and brain. No cause was determined and we were referred to specialists.

As a side note to parents: Multiple pediatricians and nurses told me that her eye looked completely fine in the hospital. I kept insisting that it looked off. Finally, one of the pediatricians agreed with me and that is how we found out about her medical issues. As a parent, I urge you all to push for your child's pediatrician to investigate further should you suspect something is wrong.