Finally Matilda joins her family at home!

Found this video of Matilda that I made while she was still in the NICU. You can hear the "panting" breathing that is typical of those with Joubert Syndrome.

To continue our journey.. Matilda was released from the hospital after recovering from the fundoplication and g-tube placement surgeries. We were lucky that immediately we were plugged into home health services from Children's Hospital. We received weekly visits from a physical therapist and a speech therapist which helped me teach Matilda how to take a bottle.

Tilly suffered from colic when she first came home. For those of you unfamiliar with colic, it's the most baffling thing ever! It was like a light switch was flipped on and like, clockwork, at 11:30 p.m., Tilly starting crying. There was nothing that comforted her until the switch went off as mysteriously as it came at 3:45 a.m. Fortunately, she seemed to be "cured" in a few weeks.

We embarked upon a number of doctor's appointments including to a neurologist and an eye doctor. The eye doctor was fairly fatalistic stating that he wasn't sure Tilly saw anything. We disagreed because Tilly always struggled to see - throwing her head back and lifting her eyebrows so that her droopy eyelids would clear her pupil (a condition we later learned is called ptosis). I concluded that if she was receiving no input, she wouldn't try so hard. The doctor did not recommend any treatment at this time but just to "wait and see". (This was not the first time I would disagree with a doctor! Mother's DO often know best!!)

The neurologist concured with us that Tilly didn't have "true seizures" but exhibited some behaviors that the nurses misinterpreted as seizure-like activity. She exhibited a temporary facial palsy which made her appear to cry only on one side of her face while the other was perfectly unaffected. (When I first observed this, I was afraid she had experienced a stroke but soon dismissed this as she was able to move other extremities on that side of her body. This palsy has since cleared and she has never done this since). The neuorologist told us we could wean her off the phenobarbitol slowly. Matilda began to actually experience her world and interact with it now that she wasn't in a medicine fog!

Soon, she was released from home health and was able to participate in outpatient therapy services at East Tennessee Children's Rehab Center. The staff, therapists, etc. are fantastic and have become members of the family.

At around six months, I took Matilda to her routine well baby check up. Her pediatrician (whom I adore!) was the first to mention Joubert Syndrome to me. She had been doing some research on her own time and thought the syndrome's characteristics sounded a lot like Matilda's. I immediately went to the website she recommended and as I read through the list, it was as if they knew my Matilda. I could literally, check through the list - "yep!", "has that", "does that".

From the Joubert Syndrome Related Disorders Foundation website:

Underdevelopment (hypoplasia) or complete lack (aplasia/agenesis) of the cerebellar vermis, usually indicated by the “Molar Tooth” sign found on an axial view of a brain MRI scan.
(more on this later)

Developmental delays

Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).

Decreased muscle tone (hypotonia).

Facial features may be abnormal in appearance (eyes far set from each other, small ear lobes, broad forehead, arched eyebrows, broad mouth).

Abnormal breathing pattern with episodes of rapid breathing or panting (hyperpnea), which may be followed by pauses in breathing (apnea).

Abnormal collections of cerebrospinal fluid in the posterior fossa that may resemble Dandy-Walker malformation.

Difficulty processing and reacting to information received through their five senses (sensory integration disorder).

After reading this information, I was convinced that a diagnosis of Joubert Syndrome was more accurate than the generic Dandy Walker Syndrome. I knew that a MRI would be the key to clearing up any questions...

Next time: Fighting for a Diagnosis - the battle begins!

The Journey begins...

I have newly revamped and relaunched this blog. Many of my friends have requested more detailed information on Tilly. While I keep my Facebook site updated, that format really isn't conducive to long posts. In 2010, there are a lot of exciting events - Tilly's eye surgeries, trips to NIH, etc. and a blog is the perfect way to keep everyone informed. I will also be documenting my fundraising efforts here.

So allow me to introduce myself and provide a little background...

Prior to September 2008, I had been a working mother of a "normal", healthy and happy 3 year old daughter, Fiona. As I was an only child and my husband had 3 siblings, we both agreed that it would be nice for Fiona to have a sibling. In 2007, we had undergone fertility treatments to try and have a second child. After a few months, we were delighted to receive the news that again, we were pregnant. The first few months of the pregnancy went along as painless as Fiona's pregnancy had. We gleefully set out to find out the sex of our child during our 20 week scan. We even took Fiona with us upon our OB's recommendation.

I settled in on the table and saw as our 2nd child sprung to life via ultrasound. The tech revealed that Fiona would be having a sister. Then the tech proceeded to do her routine measuring and reviewing. I remember looking up at the screen at one point and seeing that the tech was looking at my baby's brain. There, clear as day was a dark spot, a "bubble" of sorts... Say what you want about "mother's instincts" but I immediately knew that what I was seeing 'wasn't right". I asked the tech if the bubble was a little bit of fluid or something. The tech was very good to "not let on" like anything was wrong. She said she wanted to make sure everything was within "normal limits". My husband took Fiona on to school and I was to go about my regular visit activities. I came out of the bathroom after leaving my urine test to see that my husband had returned to the office for some reason.

Then the bomb dropped....

My OB said they had found an abnormal spot on the baby's brain. They wanted to send me to OBs at another clinic that had expertise more in "high risk" pregnancy. My head was swimming...I remember crying "What does this mean?" To which my doctor replied that it could be a realm of things - Trisomy 18, Down's Syndrome, etc. She wanted us to go immediately down to the perinatal center in our town that was equipped with higher resolution ultrasound equipment.

I left the office not fully understanding how dramatically our lives would be changed forever. Fortunately, we were in good hands with the perinatal office. The doctors there recommended an amnio which we did without hestitation. Then the painstaking wait began. Over those 10 days, I had to play out all kinds of scenarios in my head. Coming to terms with the fact that this pregnancy may not even go full term or that the child may not live long after her birth. After that came the thoughts of what life may be like with a child with challenges.

We were delighted when the amnio results came back clear which meant that she didn't have one of the "known" conditions. The OBGYNs worked tirelessly to provide the most information they could for us. They recommended we have a prenatal MRI to see if they could get more detailed information on our baby's brain in utero. They referred us to a neurosurgeon who looked at the MRI and shared his thoughts. One conversation was golden - the doctor said, there are so many unknowns, let's go with what we know... he proceeded to run down on the positives - no cleft palate, no heart/kidney/organ problems, no abnormal choromosomes...he kept "moving" us up the spectrum toward the more positive end. In the end, everyone advised that there were no guarantees, of course, but overall, they thought our baby would have a good quality of life with some delays and challenges. So, we were sent home to 'marinade' in the situation.

I have always been pro-choice. I don't want to get into a debate about this here because it is a very personal issue... However, let's just say, I have always felt that no one should tell a woman, a family, what choices they can and can't make. I can't judge a person because I haven't walked a mile in those shoes. While I can have my opinion on whether or not that child should come into this world or not, I won't be there with the parents day after day, living their life, going through their struggles... It is not an easy decision anyone makes despite what people might lead you to believe. I know, because I had to make that choice.

After contemplating the worst case scenarios and all the implications that come with moving forward, we whole-heartedly decided that we wanted to have this baby. I had a connection with her that I couldn't imagine giving up. The moment it became crystal clear to me was when I laid in bed one night praying asking God for help as I didn't know what to do. At that moment, Tilly kicked me I think the hardest that she had ever kicked me. I vowed that if she was so willing to fight - so was I.

We were given a diagnosis of Dandy Walker Syndrome due to the fact that our baby had a brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. Her ventricles were enlarged especially the 4th ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), the area of the brain between the two cerebellar hemispheres (cerebellar vermis) was underdevelope, and there appeared to be cyst formation near the internal base of the skull. We knew from this diagnosis that our baby would have developmental delays and other medical challenges.

So for the rest of my pregnancy, we functioned with that knowledge. On September 12, 2008, we scheduled the delivery via C-section since we knew this could be a complicated birth and that we would need a team of neo-natal specialists on hand. Matilda Ruby Stapleton was born at 8:31 a.m weighing 6 lbs. 8 0z. She was immediately rushed to Children's Hospital as she had to be intubated due to fluid sunctioned from her mouth, trachea and stomach. Her umbilical cord was wrapped around her neck twice. Her apgar scores were a 3 at 1 minute and a 8 at 5 minutes.

I didn't get to see Matilda for 11 hours after she was born. I had to wait until the catheter was taken out and so I sat in the maternity ward of the hospital alone (I wanted her father, Marcus, to be there with Tilly so she wouldn't be alone) listening to babies cry all around me and aching because I couldn't hold her. For any mother (those whose children who are born premature, etc.) that has been through that, they know it is torture!

Finally, I got to see my beautiful little girl...

Sweet Tilly Ru

My favorite picture - Tilly and I bonding

In the first few days of Matilda's life, the nurses and attending physicians thought she had four seizures and recommended she be put on anti-seizure medication. Most of those days, my little girl was in a fog. I noticed early on that she didn't open her eyes often and when she did, they were only partially opened. This was attributed to the medication; however, I felt something wasn't quite right. It wasn't until much later that I learned that she suffers from vision issues (ptosis, strabismus) which are common in Joubert Syndrome.

We remained in the NICU for a total of one month due to Tilly's feeding difficulties. She suffered from severe reflux and aspirated every time she tried to take a bottle. We were dilligent in our efforts to bottle feed her so that she could come home to join her family. It was upon the suggestion of one of the caring nurses that Tilly have fundoplication surgery (where a section of the stomach is wrapped around itself creating a one way valve and prevent reflux) and placement of a feeding tube (G-tube). Once these surgeries took place and she was shown to have healed, we were able to bring home our little baby girl.

Since this is turning into a rather lengthy introduction, I will end here for now. In the next installments, I will describe the frustration of getting more specific diagnosis for Tilly. Thank you for visiting my blog and I hope you will come back often for updates.

Regards, Kimberly