Kirsten's Story

Kirsten's story is written in sections. I have put updates at the top. So for newcomers you will need to start in the section dated February 2004. Thanks for visiting.

Update July 2006 - I have been terrible at keeping Kirsten's webpage updated. Kirsten just finished her Kindergarten year at BOCES. She is attending summer school right now. She is doing great. Kirsten is manipulating her wheelchair and doing great at it. She is also trying to push herself in to a side sit position. However, her wrists still turn inward so she doesn't have 100% of her hand strength when pushing up. Kirsten still tears apart the house and enjoys every minute of it. I will try to update more often this year.

Update August 2005 - Wow a lot has happened since February. We now live back in NY. This is the state Joe and I grew up in. Kirsten went to full day preschool through August 12th. She loved it and has become quite vocal. She even seems to answer questions when asked. Although we are still clueless of what she is saying. But we enjoy hearing her speak. Kirsten starts Kindergarten next week. I am excited. The school seems perfect for her. I can't believe she will be 5 years old soon. I will post more when I can tell you about how she is doing in school.

Update February 2005 - We met the specialist in mid January. He did lots of testing on Kirsten. We are waiting for official results. He thinks Kirsten's case is worse than the Salla Disease that I mentioned earlier. He just isn't sure to what degree. We should be receiving his report soon. I will update again then.

Update October 2004 - Kirsten now has an offical diagnosis. She has a Free Sialic Acid Storage Disorder. It is a very rare and incurable disease. So far there are only 130 diagnosed cases worldwide. 100 of those case are in Finland alone. Joe and I both carry this recessive mutant gene. The fact that we found each other and had Kirsten is incredibly rare. We are meeting with the best specialist in the country soon to discuss this. Apparently, he is eager to meet Kirsten because of how uncommon this disease is. I will update after that meeting to let everyone know more details. Below is some text I cut and paste from www.genetests.org

Salla Disease (the mildest form of this disorder)

Salla disease is characterized by a normal appearance and normal neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild to moderate psychomotor retardation. Muscular hypotonia is often first recognized about age six months. One-third of patients learn to walk. Speech can be limited to single words, but understanding of speech is good. Slow development progress often continues until the third decade after which regression can occur. Some patients with Salla disease present later in life with spasticity, athetosis, and epileptic seizures, becoming nonambulatory and nonverbal. Patients are characterized as good-humored and sociable.

Abnormal myelination of basal ganglia and hypoplasia of the corpus callosum are constant and early findings. MRI reveals these predominant white matter changes. In addition to the central dysmyelination, a peripheral dysmyelination with the clinical picture of a polyneuropathy occurs, and neurological presentations in these vary considerably. Patients have no organomegaly, skeletal dysostosis, or abnormal eye findings. In a single patient, growth hormone and gonadotropin deficiencies were observed. Life expectancy appears to be shortened, although affected individuals up to 72 years of age have been observed.

Update September 2004 - Just wanted to let everyone that all tests have come back negative. It is a relief because some of the tests were pretty scary. However, we still have no "real" answers.

Update August 11, 2004 - Kirsten is now 46 months old. She still is unable to sit unassisted. There hasn't been much improvement in speech, chewing, standing or walking.

The neuro wanted to do some scary tests. Metachromatic leukodystrophy and PELIZAEUS-MERZBACHER DISEASE are two of them. She also had a sub-telomere test. They have all come back negative - thank goodness. We are still waiting for Angelman's and Rett's. The neuro also was considering leukoencephalopathy with vanishing white matter. The geneticist is researching this some more before we draw the blood.

The neuro had a chance to compare Kirsten's newest MRI with one of her other ones from about age 20 mths. (due to being on the military these tests have been done in different states) Anyway, good news is that nothing has decreased - myelin, or corpus callosum, cerebellum, etc. However, nothing has increased. The neuro is concerned b/c her myelin has not increased any since her previous MRI - like it would in a typical developing child. Her brain is basically unchanged. At first I was pleased. Then the geneticist explained exactly what that means. They are very concerned b/c the brain is not developing in a forward direction. All of this makes complete sense when I look at Kirsten's development. We haven't gotten any significant jumps in development. For ex. she started sitting in Jan for 1-5 minutes and now in august she is in exactly the same spot.

So I don't know what this means for Kirsten's future. We will continue to wait and see I guess. However, we decided to continue the diagnosis hunt. Both Kirsten's neuro and geneticist and not comfortable leaving it as mixed CP with underlying brain malformations.

Kirsten finally got her new crocodile walker/gait trainer a few weeks ago. She is doing okay in it. It is a lot of work (we use a sling seat to help keep her up). She has a hard time bearing weight on her legs for more than a second. We do like it more than the PONY though. She can't push backwards so it forces forward movement (unless she chooses to just sit - which she likes to do)

We are looking forward to school starting in a few weeks. Kirsten just loves to be around other kids.

February 2004 -Kirsten is now 40 months old...After a normal labor and delivery, Kirsten was born right on time at 40wks. She was 7lbs 12oz and 20 1/2 inches long.

Kirsten had slight shaking after birth. Nurses constantly checked her blood and nothing abnormal was found. Kirsten didn't latch on to breast feed. We are not sure if it was my problem or hers. She sucked from the bottle fine. We had no reason to expect any real problems at that point. Kirsten also had a mild case of pneumonia at 3 months that went undetected for several weeks. Due to no fault of Joe or myself. The emergency room at Landsthul Germany told us her chest x-rays came back fine (when in fact they didn't).

Kirsten smiled at 2 months, rolled one direction at 3 1/2 months, slept through night about same time. She rolled to get where she wanted (and pretty quickly) for about a year. Then she learned to combat crawl at 23 months. Now she can get around pretty fast..esp if she wants the cat or our new kitten.

She didn't get her first tooth until 364 days of life. I begged her to get her first tooth by her first birthday.

Joe and I noticed delays at 5 months when she wasn't sitting, couldn't support head well, couldn't push up on hands or arms when on stomach, and couldn't weight bare.

Kirsten had undiagnosed reflux until about 18mths. It was minor though compared to some other kids I have read about. Kirsten can't chew food, but is learning to bite. I have to puree everything.

In a search for a diagnosis, Kirsten has had 2 MRI's, 1 EEG, and tons of blood work. The MRIs showed a thin corpus callosum and a small cerebellum. The EEG was normal. All metabolic blood work was normal. She also had the following three tests done to check for Angelman Syndrome. High resolution chromosomes, FISH for a deletetion of 15q11-13, and Methylation DNA study for Angelman Syndrome, all of which came back normal (or negative).

Kirsten has PE tubes to help drain fluid in her ears. She also had her adenoids removed. She now gets frequent ear infections. However, we may have discovered the cause of all the ear infections. Her pediatrician discovered that she might have a submucus cleft palate. This may be the cause of her coughing and sneezing while eating and drinking. This can also be the cause of her ear infections (due to bacteria growth when the food and drink goes up the nasal passage). We are meeting with a craniofacial team, April 2, 2004 to find out exactly what is going on.

Kirsten also has a boney mass at the roof of her mouth, and a preauricular pit (this is a tiny pin hole on the outer top part of her ear).

She was diagnosed with Strabismus and was prescribed glasses at 22months (she would never wear). However, Kirsten no longer needs glasses. Thankfully her eyes seem to be self correcting.

Kirsten started wearing AFO's (ankle foot orthotics)at about 19months. These are used to help stabilize her ankles and keep her feet in the proper position. Kirsten has very tight legs and it causes her feet to remain in an extended position which is not a good thing. This extension can cause her calf muscles to shorten.

Kirsten has been receiving Physical and Occupational therapy from 6 months of age. We added Speech therapy at 15 months. Kirsten started Preschool at 3 years old and she LOVES it. She therapy at school now and we have just begun getting additional therapy at a near by clinic.

Kirsten has just begun to sit without assistance. Once we put her in the sitting position she will stay there for 1-5 minutes. She can't stand or walk without a lot of assistance. She uses several pieces of therapy equipment like a stander, Kaye walker and a gait trainer. The gait trainer is like a walker. Kirsten has just recently started moving forward in her gait trainer. It is a wonderful sight. She has a hard time actually doing the walking motion but she tries real hard. Also, she fatigues easily.

Kirsten is also non-verbal. She does say dada with excitement anytime Joe returns home. I have heard her say kitttty (sounds like kitty to me anyway) a few times. When we were in NY last year, Kirsten and I spent a lot of time with her cousins. She used to say Ed-di-di when she saw her cousin Edward. No such luck with Mommy or mama... Last week, in school it sounded like she said two of her classmate's names.

Kirsten has Central Hypotonia (low muscle tone of her trunk, neck, hips), global delays (gross motor, fine motor, speech, and cognitive abilities are delayed greater than 30%), hypertonia of legs, feet, arms, hands (high muscle tone). She fists her hands (although not as much as she used to) and has very weak wrists and ankles. She was officially diagnosed with Ataxic and Spastic Cerebral Palsy with underlying brain malformations. However, her new neurologist doesn't 100% agree. He wants to look a little more into it.

Through all of this Kirsten is a very beautiful, happy, and easy going little girl. She loves being around other children and chasing our 2 cats. She is such a joy in our life and we are truly blessed to have her.