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Jaiden was born on February 12, 2001 after an uneventful pregnancy. At 2 months his eyes rolled to the back of his head, and we were told he was colic. At 4 months he was diagnosed with nystagmus; a rapid, involuntary movement of the eye, after we realized he could not track objects. In September, 2001 I witnessed Jaiden bend at the waist and thrust his arms and legs into the air repeatedly for approximately 5 minutes. This continued every two hours for the next 48 hours. We took him to the hospital where the doctors did not believe these episodes were seizures. That hospital referred us to the local Children's Hospital where he underwent the barrage of tests. He was diagnosed with infantile spasms. His EEG revealed the classic hypsarrhythmia pattern, and his MRI revealed a myelin delay. He is also microcephalic. He began Klonopin immediately with no success, so he started ACTH 4 weeks later. It was on national backorder. Jaiden had 30 units twice a day for one week, then 30 units once a day for one week. We also weaned his Klonopin. He became spasm free after the first injection. In January, 2002 he was started on Phenobarbital after an EEG revealed some seizure activity. In February, 2002 we welcomed Aaliyah to our family. In July, 2002 Jaiden's spasms returned. He started Klonopin again which reduced the number of clusters, and at 18 months he began to roll over and crawl, however, the spasms continued. We added Topamax in November, 2002 and thus far Jaiden has been seizure free. Jaiden cannot walk. He is not verbal and is autistic. He does not eat well so his main diet is Pediasure. He wears AFOs to keep him off of his toes, and he wears glasses. Jaiden continues to be developmentally delayed in all areas but excels in personality. He has been such an inspiration not only to me, but for his little sister who was diagnosed with IS also. Aaliyah was diagnosed with IS at 6 months. She also showed the classic hypsarrhythmia pattern on her EEG. She is also microcephalic. She was started on Klonopin immediately with no success so she began ACTH. She received 28 units once a day for 4 weeks, and then a tapering dose for the next two weeks. We also weaned her Klonopin at the same time. After the first week of ACTH, she was admitted back to the hospital for blood in her stool and high blood pressure. The ACTH was discontinued. Then she developed a different seizure type and Dilantin was started. She had an endoscopy to check for stomach ulcers and none were found, so she was started back on ACTH and sent home. Three days later she was admitted back to the hospital with Dilantin toxicity. She was released 3 days later and became spasm free until two weeks after her last ACTH injection. Her spasms returned in December, 2002 and she was started again on Klonopin with little success, and Topamax was added in February, 2003. So far, so good. No seizures since then. She just learned to roll over. She cannot sit or crawl. She also wears glasses to help with nystagmus. Just like her brother she excels in personality. I am blessed for having them teach me what is really important. Although they both continue to be developmentally delayed in all areas, they are fighting so hard. I will keep you updated as to their progress. Thanks for reading our story.
UPDATE JUNE 18, 2003: We saw our geneticist yesterday and after almost two years, we have a few answers. The reason for Jaiden's IS is a disease called spinocerebellar ataxia type 8. SCA8 is a slowly progressive ataxia with disease onset typically occurring in adulthood. The progression is typically very slow over decades regardless of the age of onset. Common initial symptoms are dysarthria with a drawn-out slowness of speech and gait instability. Life span is typically not shortened. Some patients present with nystagmus. It is also almost always transmitted maternally.
UPDATE AUGUST 12, 2003: Aaliyah and I have both tested positive for SCA8, although I have not shown any symptoms as of yet. We saw our neurologist on July 22, 2003 and Aaliyah is continuing to have some abscence seizures so we are awaiting our appointment for a new EEG. Jaiden is continuing to do well and we are slowly weaning his Phenobarbital. Thus far, this has been a nightmare as he has been on this for almost two years. He has however, taken a few steps on his own. He is not walking yet, but I feel he will sometime soon. He is 30 months today. Aaliyah is now 17.5 months and is starting to sit unassisted for brief moments. Progress is slow, but it is still progress.
UPDATE AUGUST 26, 2003: We just learned that both Jaiden and Aaliyah have cortical visual impairment (CVI).
UPDATE SEPTEMBER 27, 2003: Aaliyah had an EEG on 9-18-03 to determine if she was still having seizures, and we are happy to report that her EEG was normal. She recently received her AFOs and a new stander. I have uploaded a picture of it so you can see it.
UPDATE OCTOBER 17, 2003: Aaliyah is 19.5 months and has just learned to get up on her hands and knees and rock back and forth a little. YEAH! I don't think we're ready to crawl just yet, but I do believe we are getting there. She is now sitting on her own for periods of about 30-45 seconds. Jaiden and Aaliyah are still non-verbal, but have developed their own great little characters.
UPDATE DECEMBER 2, 2003: Aaliyah has accomplished sitting and getting to the sitting position on her own. YEAH! We are so proud of her. Jaiden and Aaliyah had their vision rechecked. They got new glasses. They look great. We learned that Jaiden's eyes turn out a little and if glasses cannot correct this, they will do surgery to loosen those muscles and make them straight. Aaliyah is also going to have her tonsils and adenoids taken out. Hopefully this will correct her sleep apnea.
UPDATE JANUARY 16, 2004: Aaliyah came through her surgery, albeit very slowly. She is doing wonderfully now, and sleeping much better. She has, however, lost some weight due to not eating, but she is coming around. Jaiden received some of his equipment today to aid him when he starts school next month. I have some pictures if you would like to take a look.
UPDATE FEBRUARY 16, 2004: Jaiden celebrated is 3rd birthday on the 12th. He was supposed to start school today but the school had to change his start date to the 24th. We are both excited and nervous about this. From day 1 Jaiden has been home with me, but I think this will be very good for him. He still does not walk nor talk, but he crawls at top speed. Aaliyah will turn 2 on the 26th. She has gained some weight back and is doing great. She does not crawl nor talk, but she sits now like a princess. We haven't made much progress in the way of eating. Aaliyah takes no solids, only Pediasure. Jaiden is mainly Pediasure with minimal solids, but both are maintaining weight beautifully.
UPDATE MARCH 26, 2004: Aaliyah celebrated her 2nd birthday last month, and Jaiden started school. He attends 4 days a week for 2.5 hours a day. He is doing great, and adjusting well. He even rides the bus 2 days a week. Aaliyah still has not passed a hearing test and will be going for a sedated ABR some time soon.
UPDATE JULY 13, 2004: Aaliyah passed her ABR with flying colors. Jaiden and Aaliyah went for EEGs on 7-6. I got the results back today. Aaliyah's was normal. Jaiden's was abnormal with presence of spike and slow wave discharges over the left occipital area. He is progressing into Lennox-Gastaut Syndrome. However, he is doing well. He still does not walk independently, but he loves school. We have also learned that Aaliyah is in the beginning stages of self-inflicted scoliosis, and we have ordered her new equipment. A great new wheelchair with a highlow base, a new carseat and a new stander. Both children are also receiving new DAFOs. Aaliyah will also be having a swallow study done soon as she is still not eating solids. Will keep you informed.
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