Time for another update! I met many of you who read the blog through the experiences I've had with Dylan, experiences I am so glad to have had and so many of you I have been so blessed to know! We meet new people every week too... and for you, here's the whole story of our little pickle.
Dylan was born at almost 31 weeks gestation weighing a very petite 2lbs 9 oz, she was 14.5 inches long. Through the normal preemie course, nurses tried to put a feeding tube up her nose and found that there wasn't any room. As a result of that, her nose became inflamed and closed off and she had to be intubated. They did a cat scan and found that her nares were very small (Pyriform Aperture Stenosis) and that she had a single central incisor, together these things can be an indication of Holoprosencephaly (HPE). At this time, they ordered an MRI to confirm, but that came back inconclusive due to her prematurity. It's also important to note that all of my ultrasounds had indicated a normal brain, something which, looking back, I am so appreciative of.
We did genetic testing and found that Dylan's missing a part of her 7th chromosome (she has a mega deletion of chromosome 7q), including the Sonic the Hedgehog gene (yes, it's named after that Sonic). This area that's missing is pretty important, it includes sections that are in charge of the development of lower spine, kidneys and brain. While still in the NICU they scanned her kidneys which are fine, and her back, which was not. Turns out she has a few abnormalities, Sacral Dysgenesis which means some bones of her sacrum are missing (3 of the 5) and Sacral Agenesis, which means what she has left isn't formed properly. The bones of her lower spine split like they didn't come together right. She also had a tethered cord which means that her spinal cord was tied down at the bottom with a tendon that normally releases during fetal development. This spinal abnormality can cause stress and damage to the spinal cord as she grows. These back problems indicate bowel and bladder control problems both have been confirmed now, who knew going to the bathroom was such a complicated process!
She was in the NICU 89 days, half of it spent at Primary Children's which was where she had the Pyriform Aperture Stenosis repair. This surgery to increase the nares for breathing requires an incision under the upper lip, providing access to her skull. At not even 4 lbs she was the smallest baby that the ENT had performed that particular surgery on. After that, but while still in the hospital she got spinal meningitis. It was a rough little road to home, but she made it!
In June 2008 she got extremely sick with what we later found out was a bad infection. They did an MRI and found a nasty cyst on her spine, a result of the malformation. After 10 very challenging days in the hospital where she was extremely sick (prompting me to start this blog!), they determined the best way would be to drain the cyst, treat the infection with strong antibiotics and then resect the tissue at a later time. In August of 2008, after a month of IV antibiotics at home through a PICC, they decided to go in and resect the cyst tissue and untether her spinal cord.
While she was hospitalized they repeated the MRI of her brain and also did a 3d cat scan of her skull to check on her sutures (She has microcephaly that was also diagnosed at birth). They discovered that her metopic suture, the one that runs down your forehead, had closed early which would need to be corrected. On her very first birthday she got her 4th and hopefully final in-patient surgery, a Cranioplasty to correct her forehead. This surgery had her in the hospital another 6 days! It's healed up almost perfectly now, you can hardly see the traces of the jagged incision that went from ear to ear across the top of her head.
Dylan also has a common heart defect that affects kids with chromosome abnormalities, an ASD. Some close on their own, however, hers is rather large so they expect that she will have to get it repaired with an out-patient surgery. Our next appointment with the Cardiologist isn't until she's 3.5! (We are due for scheduling this appointment but are total slackers... I should know more soon!)
We got the results of the repeat MRI in September 2008, this was a shocker! We found out that our little gal doesn't have a forebrain. This very important part of the brain controls a lot of your reasoning, personality, cause and effect, among many other things. In her case there is no separation between the two hemispheres of her brain which is what HPE is all about. The good news is that the Neurologist told us that if someone saw her scans and then met her they wouldn't know it was the same baby. That's the amazing thing about brains, a lot of time the unused parts try to make up for what's missing so you just never know. At almost three years old she's developmentally at about 9-12 months which is where we have been for a while, as various developmental areas catch up.
With this MRI we also found that she has very small optic nerves but her eye sight doesn't seem to be impacted which is good. And, she has no Olfactory Tracts, so she might not have a sense of smell, we won't be able to confirm this for a few years though!
She was diagnosed with CVI which is where the eyes can 'see', anatomically they are correct, but the brain has a hard time processing what it sees. Often kids with CVI tend to see something but look to the side to reach for it so their brain doesn't have to process too much at a time. They also use their peripheral vision a lot and hate the sun. Dylan received vision therapy for this through Early Intervention but when she graduated from EI her CVI was the lesser of the three levels that it could be and she didn't even qualify for vision therapy through her school. Yes! (But she still HATES the sun!) She was also diagnosed with Sixth Nerve Palsy, the muscles on the outer side of her left eye cannot pull her eye to the left so often her right eye turns in when she uses her left eye. They can work to repair this if it's a large problem but there is no loss of vision at this point and it's not worth the risk of her eyes working together in most other directions. (Unless, of course, she tries to get a driver's license... wink wink.)
She also has not passed a hearing test in her left ear for over a year or so. They want to do a sedated test but I know she can hear... so I am waiting until she's sedated for other reasons to do this test for the Audiologist.
Dylan's not an eater so she got a 'button' in May of 2008 but she miraculously she started nursing when she was a year old! Unfortunately we had to stop this several months later so most of her nutrition comes via her button. We have been adding some solid foods to the mix and she seems to get better at eating from week to week as long as mom doesn't slack off on the practicing! She's also non-verbal and doesn't communicate with us orally, yet. I am not counting this out!
When Dylan was about 18 months old she started having spasms, short burst of involuntary movement. I did a lot of research on the good old internet and they looked to me like Infantile Spasms (IS) although not quite as severe as the typical ones. She got a few EEGs and although it wasn't the typical version, she did indeed have hypsarrhythmia, the cause of IS. Most kids with IS degenerate very quickly and Dylan was showing no signs of going backwards so we had some flexibility when it came to treatment. We tried a few things that didn't work before we started a grueling ACTH treatment which required a daily shot, miraculously, these hard to treat seizures went away about a week after we weaned her from the medicine.
We were blessed to be spasm free for a year but then the buggers creeped up on us again. Because her development was still unaffected, and an EEG that wasn't typical for IS (but still very atypical), Dr. Neuro and his colleagues decided to be a bit less aggressive with treatment placing her on a medicine called Zonegran. We were to increase her dose slowly over three weeks but amazingly, the second dose amount as we were ramping up, seemed to take care of the spasms. Not only that, but there was a dramatic improvement in her attentiveness, responsiveness and eye contact! I think the recent occurrence of the abnormal brain activity had slowly impacted her personality but this medicine seemed to bring her back to us. Hooray for good medicine and awesome, inspired doctors!
We also get to visit my cousin "Aunt Trina" at her office every couple of months because Dylan has Thyroid and Pituitary problems relating to the HPE. We are giving her daily shots to help her be stronger and grow nice and big. They are working! She's definitely longer but she's still a skinny 22 pounder!
To battle the neurogenic bladder and bowel issues we have routines in place. She takes a natural herb (Senna) once a day to hopefully help her go to the bathroom once a day. (The previous treatment just made it easier to go, all. day. long.) It's been working very well but finding the balance of how much is rather tricky! Also, due to 4 or 5 back to back bladder infections (in spite of a daily antibiotic) we found that she is not fully emptying her bladder. We have to cath her 4 times a day, but since we started this process a couple of months ago she hasn't had any more breakthrough bladder infections! Just what she needed!
We have a cheat sheet that makes going to Doctor appointments much easier. Her file at the Pediatrician's office is 2 inches thick but our cheat sheet sums up her diagnosis, her medications and what her Pediatrician refers to as her 'large circle of friends', a list of all of her specialists. One older doctor that we saw once at the night clinic came in and said he would read up on her file but he was afraid he didn't have that much life left so he let me give him the synopsis!
When Dylan was born we had no idea if she would ever move, learn, grow or interact yet every week we see incredible progress. I think her favorite thing to do is defy the odds and prove silly doctors wrong. Although only a small percentage of children with her diagnosis are mobile, Dylan has continued to defy the odds in this area, she can "walk" on her knees! Doctor's are fascinated by this! They love that she 'gets' that moving one leg in front of the other will make you move forward! With the assistance of AFO's (Ankle Foot Orthotics) to support her ankles and lower legs she is starting the cruise along furniture ad we have had some recent HUGE successes in having her take steps with her walker! He legs do not straighten due to tight capsules but with the proper support she will walk, she will dance! All in her own time.
Dylan is adored by everyone she meets, but especially men... she has this uncanny way of wrapping them around her itty bitty finger. Our family has truly been blessed in so many ways by Dylan. We love her so much and love that she has the strength and determination to do anything she sets her mind to. It's a great example for us. She's amazing and we are one of the lucky families that gets to have a celebration of some kind nearly every single day.
Thanks for reading about our amazing little Dyl pickle!
