Undiagnosed

Overview
3-1/2 years ago Sydney started having seizures which turned into a constant twitch that started in her face and quickly spread over her entire body. After several hospital stays and trips to various institutions they have not been able to come up with a diagnosis or treatment. Sydney is 6-1/2 years old now.  We are not giving up hope.

Symptoms
Seizures, twitching in face, arms, hands, and feet, delayed development.

Tests/Diagnosis
Every test under the sun!  Went to NIH Undiagnosed Diseases Program.  Numerous tests came back negative and only test left is a complete gene sequence, which we are still waiting on the results.

Treatments
Ketogenic diet, several seizure medications, chiropractor, PT, OT, speech therapy, horse therapy

Resources
Recently, we found another little girl with the same symptoms through an article on CNN and the NYT. We are hoping that if we find enough children with the same symptoms it will point to a clue as to what is causing this and hopefully a successful treatment. We know there are others like her out there.

Contributed by MOM Carrie Marko to see more about Sydney here is a YouTube video her mom shared.

Trisomy 8 Mosaic Syndrome

Overview
Trisomy 8 Mosaic Syndrome - some of the cells in her body have 3 copies of the 8th chromosome.

Symptoms
Agenesis of the corpus callosum,dysmorphic facial features, low-set or abnormally shaped ears and a bulbous-tipped nose, eye abnormalities like strabismus and corneal clouding, bone and tissue abnormalities, various structural heart problems, palate abnormalities, hydronephrosis, cryptorchidism, mild to moderate mental delays, and deep hand and feet creases. These characteristics tend to vary widely from person to person.

Tests/Diagnosis
Blood chromosome testing or skin chromosome testing.

Treatments
No treatment for chromosome disorder.  Treatment is correction of medical conditions associated with the disorder.

Resources
http://www.healthline.com/galecontent/trisomy-8-mosaicism-syndrome#1
http://www.rarechromo.org/information/Chromosome%20%208/Trisomy%208%20Mosaicism%20QFN.pdf

Personal Story

Wow!  Where to begin!  I'm KiKi's grandma, and guardian.  My hubby and I have had KiKi since she was born except for about 6 months when here mom "took" her and her brother.

KiKi was born at 37 weeks and the first year of her life was spent keeping her alive.  Since then, she has done really well, except for her ears.  Because of the craniofacial deformities, she has constant ear infections with massive draining.  Surgery tomorrow (June 5) for I don't know, the 10th time maybe?

She just started walking over St. Patrick's day weekend. I don't think she has sat down since, she's making up for lost time.

She is functionally non-verbal. She has some sign language she uses and we are starting to use a picture board for her to communicate her needs/wants.

She is happy, loves everyone and in spite of all the hospitalizations and surgeries.  She is the love of my life (except for her brother!) and I cannot imagine life without her.

Here is the link to an interview I did last year for our local children's medical center radiothon.  The words and music are the interview, I added the pictures, hopefully this will give you an idea about how wonderfully perfect Kiki is!

Contributed by MOM Bea Hall to see more about KiKi, here is a YouTube video her mom shared.

Encephalocele

Overview
Encephalocele - rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull.

Symptoms
Symptoms include: hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence.

Tests/Diagnosis
Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

Some encephaloceles are diagnosed in utero with ultrasound.  Usually an amniocentesis is also offered to detect genetic involvement.  A fetal MRI is the best test to understand brain involvement in the encephalocele.

Treatments
Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability (if the encephalocele contains mostly CSF). Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive (palliative).

Resources
Facebook - Encephalocele mommies and daddies and Encephalocele Support
http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm

Personal Story

Our little girl, Grace, was diagnosed at 20 weeks gestation with an occipital encephalocele (the back of her skull).  It contained mostly CSF and approximately 10% of her cerebellum.  She was born at 39 weeks, weighing 7 lb, 1 oz and was otherwise healthy.  She had surgery to remove the (large) encephalocele when she was 5 days old.  She also had a VP shunt placed after she developed hydrocephalus when she was 2.5 months old.  She started physical, occupational, and speech therapies after her shunt surgery.  She is now 15 months old, and is developmentally delayed, but is meeting milestones at her own pace.  Other diagnoses she has are microcephaly and agenesis of the corpus callosum.

Contributed by MOM Karen - To read more about Grace check out her BLOG

Neonatal Alloimmune Thrombocytopenia (NAIT)

Overview
Strokes in utero from Neonatal Alloimmune Thrombocytopenia resulting in massive brain damage.

Symptoms
Cognitive delay, speech delays and epilepsy.

Tests/Diagnosis
Blood test and CT and MRI scans of the brain and therapeutic evaluations

Treatments
Speech therapy, OT PT special education since 4 weeks of age. Also horseback riding, social classes, behavior modification and medication for the seizures

Resources
http://health.groups.yahoo.com/group/NAIT/
http://www.Naitbabies.org
Early Intervention, NYU Comprehensive Epilepsy Clinic and school district resources.

Personal Story

Chris was born term after 2 days of labor and 3 hours of pushing he had to have an emergency csection. Immediately after birth they knew something was wrong. Chris had a swollen head and petechial hemorrhages all over his body. He also had bruising from the birth.

They tested his blood and found that he had low platelets. They found that we had a condition that was called NAIT neonatal alloimmune thrombocytopenia. Basically it is a condition that is not screened for anywhere in the world except for Norway. It is where the mothers and fathers platelet "type" do not match and mom makes antibodies against the baby's platelets.  Her body sees the platelets as an invader.
Chris was not expected to live much past birth because of his brain damage. We were given a week, then when he lived past that, a month and then a year. They expected him not to walk or talk or even recognize us as his parents.

Ironically (through massive therapy) Chris hit all his milestones for his first year ON TIME!!!!  It wasn't until he was 2 years old that we realized that even though he could speak he had major trouble retrieving words. To this day he is very quiet and has to be coaxed to speak. He does however walk, talk, run, jump, swim, hike and rock climb, yes rock climb. He will never be in a typical school although he loves school and has made friends on his own. He will always be in a special education classroom but it is fine with us. Chris is a happy adorable 11 year old. He is a true miracle and overcame so much and blew his prognosis out of the water! We love him so much.

His brother was treated while I was pregnant and fortunately was born okay. Unfortunately this did not have to happen to Chris. Blood testing of mom and dad BEFORE getting pregnant would determine those at risk for a NAIT pregnancy. It has become a goal of mine to provide support for other families and push for screening and make it part of prenatal testing. NAIT can be treated and children do not have to be born with brain damage. I started the yahoo support group in 2002 and it has taken off!!! NAIT is now in one in every 500 Caucasian births and statistics say it is about 1-600 world wide in every population. We feel it is grossly under diagnosed since not all cases are severe and not all are with the first child. Some people have a 50% chance of NAIT while others have 100% due to genetics.

Contributed by MOM Stephanie Volpe