Heather is 18 years old and was born on March 28, 1982. She has craniofacial abnormalities, midline facial cleft, hydrocephalus, has growth hormone and thyroid hormone deficiencies, is blind, mental retardation, choanal atresia, optic nerve hypoplasia, artificial tear duct, 12-D deletion, sensory integration disorder, latex allergy, and ACM I w/30mm herniation. Her ACM is most likely due to her craniofacial abnormalities. Due to not producing any growth hormone she is about the size of a 6-7 yr. old and weighs 56lbs.
She has had 39 surgeries since birth and needless to say does not care for the medical field that much. She is musically talented and plays the piano and sings. Heather has had feeding difficulties since birth. She had a feeding tube when she was a baby and presently her nutrition is Ensure, which she does drink by mouth. She is very sensitive to textures in her mouth. While having a MRI in 1991 to check for a tethered cord, which she did not have, a diagnosis was made for ACM. I was not told about it at that time and then when I came across it in some of her medical records at a later time, was then told by another doctor that it was nothing to worry about. And unfortunately I did not worry about it.
Heather's pre-op symptoms were headaches in the back of her head, eye pain, neck pain, backaches, pain in her arms and difference in the posturing of her head I had been to her neurosurgeon about the headaches, because of a previous shunt revision and was told the shunt was fine, that she should not be having headaches. We also visited her eye surgeon because of the artificial tear duct, and were told the tube should not be causing her eye pain. Finally on a whim, we went to her orthopedic doctor. For some reason at this time, the Arnold Chiari Malformation came to mind again. I brought this to the attention of this doctor. Even though he had no experience with ACM, because of the posturing of her head, he ordered a MRI. I then called her neurosurgeon who we have been seeing for about 2 years and mentioned the ACM to him. That changed his thoughts completely.
Heather had a MRI within a week. The neurosurgeon did say to me that he was glad that I had been so persistent. She may have gone indefinitely without them knowing about the ACM, because I had been told by someone else not to worry about it. Her neurosurgeon recommended surgery for her within two weeks. On June 10, 1998 she had the decompression surgery (suboccipital craniectomy and lamenectomy of C1 & C2). Her surgery lasted about 1 ½ hours and she actually came home the next day. She still has a good amount of neck soreness and tires easily. She has also had some signs of pain in her arms and face. I am hoping this is just part of the healing process.
Update as of June 99
It also been almost a year to the day since Heather had her decompression. So much has been going on in this last year. I wish I could say that everything turned out like I had really hoped and prayed that it would. On August 10, 1998, Heather went back into surgery to open up her dura because of continuing problems. The morning after this surgery she had a "whopper" of a headache. But this was a new headache - it was in the front forehead area. She has continued with this headache daily since; though the intensity of it is not as severe as that morning. Eye pain and neck pain has continued as well as occasional joint pain.
A couple of months ago, I brought Heather to see a "new" neurosurgeon for the continuing problems and hoping that he would be able to try and figure out what was going on with her. We had not been receiving adequate follow up care with the previous neurosurgeon. His main thought was that her body was fighting the graft. Heather recently had a CINE MRI and had a reaction to the anesthesia from the MRI. She has been diagnosed with probable malignant hyperthermia. The results of the CINE MRI came back with new diagnoses. Heather has now been re-diagnosed with Chiari 2 instead of Chiari 1 and basilar impression. As I write this, I am still waiting for the NSG to give me an idea of what his thoughts and recommendations are and where we might go from here.
As frustrating as the "Chairi life" is, I value the many friends that I have been to able to "meet" and the love and support that is given so freely is priceless. And though Heather's life may be complicated, there is a positive side to it. She has touched many lives in her 17 years and is truly a very special child!
Update - October 99
Things have not gotten better for Heather. We have had to change NSG's again, due to her previous one moving away. Presently Heather is seeing a NSG in Augusta, GA whom I am very pleased with. We have talked of doing a larger decompression and changing the bovine dura graft. Now it is just a matter of deciding when.
Heather continues with daily headaches and eye pain. Pain in her arms and legs have become frequent again. She has just recently had a headache that would send one to the emergency room for pain relief. We are just hoping this
is not a sign of what is to come. Though there are many days where Heather just doesn't "feel good", she does still have really happy days. She has endured so much in her short life and I thank God every day for allowing us to have her in our life.
Update - May 2000
Heather had to have a shunt revision (surgery #38) this past February. She has not had to have the entire shunt changed since it was placed 18 years ago. It finally quit. We now know that the headaches she was having in the forehead area were high pressure headaches. The new shunt did help things a lot, but she still continues with headaches, although they don't seem to be daily like before. They are becoming more frequent again as is the eye pain and fatigue is pretty bad. Heather's most recent MRI in March shows no CSF flow posterior to the cerebellum, so we are kinda back where we started.
Heather has been seeing a new neurosurgeon here in Atlanta. Last I wrote we were going to Augusta to see a NSG, but did not want to have to go out of town if at all possible. This NSG moved into this area in the latter part of
99". Have been very happy with him and it is great to not have to drive hours for Heather's medical care. We seem to be at a standstill as to what to do with her. This neurosurgeon believes that a larger decompression may not help
Heather as her entire skull ratio is too small, not just the posterior fossa. Surgery to correct this would involve a cranial vault reconstruction.
Heather is presently scheduled for another surgery (#39) on June 26th on her left eye. This is not Chiari related. She will have her artificial tear duct replaced and a screw placed through a tendon in the lower eye which will be screwed into the bone so the bottom of her eye will quit pulling down. This is due to scar tissue. Heather is still a trooper through all of this. Her recuperation from each surgery becomes longer and longer, but she is one tough little girl. What a blessing she is!
Another surgery on August 12th. After Heather's daily
headaches turned into some pretty severe headaches, a CT scan showed that her
ventricles were enlarged. A "simple" shunt revision turned into a
complicated matter. The NSG found a mass in Heather's abdomen. That explained
her stomach hurting. Her shunt was externalized and what was thought at that
time to be a pseudo cyst in the abdomen was drained. The cyst was very big and
then they left a drain to continue draining the rest of the fluid. On the 29th
Heather went back into surgery and her shunt was put in the pleura. This shunt
is not a long term placement and will need to be put back in the stomach cavity
at some point. So basically, the shunt had not really malfunctioned, but rather
the cyst in her abdomen was preventing it from draining properly.
October 18, 2000
Because of continuing headaches we did the ICP monitoring with Heather. We do know that her entire skull is too small and the NSG felt that may be why she was still experiencing headaches. During this monitoring, she was not allowed to get up at all. It didn't show any high pressure during that time, but I feel that if she was monitored during normal activities, that is where they may have seen an increase in pressure. So that testing was a dead end.
After several months of Heather continuing to have stomach problems, another CT scan showed that the pseudo cyst was just as large as it was back in August and it had her bladder pushed aside. Not good. So another draining of this cyst was scheduled for February 13th (surgery #43). Driving home that day from the surgeon's office, something was just not settling right with me. How was the cyst filling back up if the shunt was no longer draining into the stomach cavity?? Got in touch with the surgeon with my concerns about this scar tissue remaining in her stomach, why was it filling back up and not being able to put her shunt back in that placement when we needed to and besides the fact of a cyst this large causing other potential problems. He reviewed the CT scans with a radiologist and found that there was a high probability that this was not a pseudo cyst but more than likely a terratoma tumor. It is a weird kind of tumor that is mostly benign and you are born with it. At some point, it starts to grow. Heather only weighs 51 1/2 lbs. and it is hard to believe that she had something this big in her. It was about the size of a large grapefruit or small cantaloupe - not necessarily round in structure, but that is about how big it was when the doctor showed me with his hands. So on February 13th he removed this tumor. This surgery went well without any complications. Spoke to the surgeon today and the tumor was 100% benign. He did say that it was really good that the radiologist picked up on this as this tumor needed to come out "now". It was so big and it can burst and cause all kinds of problems.
As I've said before the recuperation after surgeries are slower for Heather, but she is amazing. Two days after the surgery and hardly able to walk because of the incision in her stomach, she wants to jump (bounce) on the trampoline.
We still now have to deal with the continuing headaches and some other problems that are more Chiari related. But the only answer to that at this time seems to be going in and exploring and possibly a larger decompression. But that is not in the immediate future.