VCFS - Do I think she has it?

This is an extremely difficult question to answer, and one we need to decide on soon. Do I believe Boeboe (or for that matter, any/all of the children) have velo-cardio-facial syndrome?
 
If I reply yes, it implies the following:

• I think there indeed is a chromosome defect.
• I thus believe there's something major wrong with my daughter.
• I believe all her issues have the same common cause. It's thus not just family genetics, chance, coincidence, whatever.
• I believe there's a basic, clear reason why she's not doing as well in school as she should've, if based on family-history.
• I believe that some of her facial features is because of VCFS. I believe that her tethered cord didn't "just happen", it was because of a genetic defect in her chromosomes. I believe that she has a language and speech impairment because of VCFS, not "just because". I believe her psychiatric issues have a specific cause and probably wouldn't have been there if she didn't have this defect.
• I believe the psychiatrist is right, when she believes it is VCFS, and not the geneticist (who believes it might be another genetic/chromosome problem - VCFS isn't her first choice). Why on God's earth would I want to believe the psychiatrist and not the geneticist??
• I believe it's really as bad as I fear.

If I reply no, it implies:

• I'm hiding my head in the sand.
• I refuse to believe that she can have something so huge.
• I refuse to acknowledge that she has many of the signs.
• I don't want to believe that her future might be fraught with difficulty because of this.
• I may believe that there's another chromosome defect, other than VCFS. Maybe an "easier" one, like 16p duplication? Or even 22q duplication?

You see my difficulty? I swing from the one oposite to the other. Believing that of course she must have this. How could she not, with so many signs?? Then, next morning, I would wake up and say, argh, I have many family members with issues, of course it would just make sense that my children would have various issues as well. Not true?
 
We need to make a decision. The geneticist asked if we don't want to test for VCFS ourselves now, instead of waiting for the study of the professor to complete. It'll be money out of our pocket. But it will provide us with answers. I get the impression that the geneticist has started to wonder herself. She says it'll exclude it, if nothing else. And that's true.

So, why does the psychiatrists believe (and some other specialists wonder) why Boeboe may have VCFS? Let me list the known symptoms and signs of this chromosome defect. There's something like 189 currently, and seems like the list still grows as more and more children are diagnosed with something that's almost as common as Down Syndrome, but not as recognisable. Down Syndrome children, have a very specific look. Peanut has that look around her eyes when she laughs, but that's a whole other post. VCFS-children do not all have that precise same look, like Down syndrome children. So it's not as easy recognisable. To a parent, or to a medical practitioner.
 
Firstly though, what precisely IS velo-cardio-facial syndrome? (My own description, this is not from a medical website.)
 
All human beings get half of their genetic material from their dad, and half from their mom. 23 Chromosomes from each parent, giving a total of 46. The chromosomes are marked from nr 1 to nr 23, listed from more important chromosomes to the lesser ones, I believe. The last chromosome, nr 23, is the xy chromosome. Giving rise to the gender differences in boys and girls. Every cell in your body uses these 46 chromosomes as building blocks.
 
When conception takes place, the process is extremely sensitive. When something goes wrong, it usually results in such a serious chromosome defect, that the embryo is miscarried. Sometimes though, the defect is compatible with life. Sometimes, it's such a small defect that the child would never even know about it. Sometimes, the result could be something much bigger. In Down syndrome for example, instead of the two copies of chromosome nr 21, there's another, third copy. Thus, the one chromosome was duplicated. Sometimes, whole chromosomes are duplicated, other times, they're deleted. Sometimes, just a little bit is duplicated, other times just a little bit is deleted. As far as duplication vs deletion goes, deletion is usually the worst of the two. BUT, it all depends on the amount of the gene that's copied or deleted, as well as which chromosome it is. And of course, the resulting effect on the child. You can have a very small duplication, but when it causes a severe defect, it could be devastating. While some people with a larger deletion may have so few symptoms, they might never even be diagnosed!
 
In VCFS, the 2 copies of chromosome 22 formed, but something went wrong, and a part of it went missing. So instead of 2 complete copies, there's 1 and 3/4's. Or 1 and a half. Or whatever the case may be. Usually, fortunately I should say, the deletion usually is just a very small piece. Every chromosome is divided into 2 distinct parts. The short arm called p, and the long arm called q. A chromosomal defect is thus described by the nr of the chromosome affected, the arm on which it happened, and if it's a duplication or a deletion. VCFS is a small deletion on the long arm of chromosome nr 22. Thus, it's also called 22q11.2 deletion syndrome (where 11.2 is the point where the deletion occurs). Every chromosome has thousands of genes, and only a few could've been deleted, or lots. The interesting thing of this chromosomal defect is that no two people are affected in the same way. They say even if 2 family members are affected by the exact same deletion, they may have vastly different symptoms. Sometimes, only the child or one child would be suspected of having VCFS, but after tests, it turns out a parent or siblings has it too!
 
So, here's the currently known signs and symptoms that a child with VCFS can display. Usually, the child will only have a limited number of these signs. Some will have more than others. Some would have more superficial defects, others would have devastating defects. So here's the list, I've highlighted Boeboe's in pink and added comments of my own in italics.
 
Most affected systems (Major signs)

Cardio-vascular
Cleft palate
Feeding difficulties
Immunization problems
Delayed neurological and psychological developments
Speech problems
Renal abnormalities
Growth hormone deficiencies (I don't know about this one, but she's the shortest, smallest little girl in her class, and both height and weight is around the 5th percentile.)

Anomaly fact sheet of symptoms

Abdominal/kidney/gut (Boeboe has a very light case of this)

Hypoplastic/aplastic kidney
Cystic kidneys
Anal anomalies (displaced, imperforate)
Inguinal hernias
Umbilical hernias
Single case of malrotation of the bowel
Hepatoblastoma and diaphragmatic hernia (rare)
Diastasis recti abdominis
(Some sites list renal abnormalities as a sign. Boeboe has a misshapen kidney. One of her kidneys isn't bean-shaped, but more like an upside down "L". It's not a big deal, the urologist just told us to be extra mind-ful of kidney infections. She also had a narrowed urethra which was dilated when she was 6.)


Cardiac findings (Boeboe has no cardiac problems that we know of.)

VSD (ventricular septal defect)
ASD (atrial septal defect)
Pulmonary atresia or stenosis
Tetralogy of Fallot
Right-sided aorta
Truncus arteriosus
PDA (patent ductus arteriosus)
Interrupted aorta
Coarctation of the aorta
Aortic valve anomalies
Aberrant subclavian arteries
Vascular ring
Anomalous origin of carotid artery
Transposition of the great vessels
Tricuspid atresia

 

Cognitive/learning

Learning disabilities (math concept, reading comprehension) (Boeboe's biggest obstacle in school)

Concrete thinking, difficulty with abstract thinking (Another big obstacle for Boeboe)
Drop in IQ scores in school years (test artifact)

Occasional mild mental retardation
Attention deficit hyperactivity disorder (ADD/ADHD)


Craniofacial/oral findings

Overt, submucous or occult submucous cleft palate (None that we know of)
Retrognathia (retruded lower jaw) (Not severe)
Platybasia (flat skull base)
Asymmetric crying facies in infancy
Structurally and/or functionally asymmetric face
Straight facial profile
Cleft lip (uncommon)
Enamel hypoplasia on teeth (primary dentition)
Small teeth (Some sites list teeth coming through in the wrong place as a sign, Boeboe has that)
Congenitally missing teeth (I'm not marking this, yet, but I'm starting to suspect due to the fact that a few of her teeth isn't coming through when they're supposed to.)
Hypotonic, flaccid facies
Downturned oral commissures
Microcephaly (small head) (Her head is under average, on the 3rd percentile or something.)

Small posterior cranial fossa

Vertical maxillary excess (long face)
Tortuous retinal vessel
Suborbital congestion “allergic shiners”
Strabismus
Narrow palpebral fissures
Posterior embryotoxin
Small optic disk
Prominent corneal nerves
Cataract
Iris nodules
Iris coloboma (uncommon)
Retinal coloboma (uncommon)
Small eyes
Mild orbital hypertelorism (She might have this, but precise measurements haven't been done)
Mild orbital dystopia
Puffy eyelids
Hooded eyes
(She also has alacrima. She does not cry tears. It's a superficial finding, but for a parent and a child, it causes quite a number of problems. You won't believe how much value humans put in tears, and the assumptions they make when there's no tears. I've been really hurt and saddened throughout the years by people telling me I'm spoiling her by comforting her, "when there's not even tears". If there's no tears, people assumed it didn't hurt as much. Poor Boeboe.)

Ear/hearing findings

Over-folded helix

Attached lobules

Protuberant, cup-shaped ears (We have protuberant ears, but it's a family thing, so I'm not marking it, yet)

Small ears
Mild asymmetric ears
Frequent otitis media
Mild conductive hearing loss
Sensorineural hearing loss
Ear tags or pits (uncommon)

Narrow external ear canals

Endocrine

Hypocalcaemia
Hypoparathyroidism
Pseudo-hypoparathyroidism
Hypothyroidism
Mild growth deficiency, relative small stature
Absent, hypoplastic thymus
Hypoplastic pituitary gland
Poor body temperature regulation (They didn't want to release her from NICU as a baby because of this. And until age 2, she would go blue with every bath done, even in this hot country of ours, even in summer, even when I bathed her in the middle of the day. In fact, I could never bath her in the evenings like other babies. Hair washings had to be planned very carefully, because it would cause her to shiver uncontrollably afterwards.)

Genito-urinary

Hypospadias
G-U reflux (A few urologists had exclaimed how strange it is that she doesn't have this. They even put her through the (very traumatic) test twice, because they were sure there must be reflux back into the kidneys.)
Cryptorchidism

Immunologic

Reduced T cell populations
Frequent lower airway disease (pneumonia, bronchitis)
Frequent upper respiratory infections (Only when she's not on her reflux medications.)
Reduced thymic hormone

Limb findings

Small hands and feet

Tapered digits (This is a very interesting finding to me. Since she was a newborn, I've been commenting on how strange her fingers look, and that they seemed really (abnormally) thin and long. I never knew that it was called tapered digits. If you google it, that's exactly how Boeboe's hands look. She is also extremely flexible, as well, in her finger joints.)
Short nails
Contractures

Triphalangeal thumbs

Soft tissue syndactyly
Rough, red, scaly skin on hands
Morphea
Polydactyly (both preaxial and postaxial)

Nasal findings

Prominent nasal bridge (Boeboe has the opposite. She has a curiously flat nasal bridge.)

Bulbous nasal tip
Mildly separated nasal domes
Pinched alar base, narrow nostrils
Narrow nasal passages
(None of these has been measured in Boeboe. So I'm not marking anything.)

Neurological/brain findings

Periventricular cysts (mostly anterior horns)
Small cerebellar vermis
Cerebellar hypoplasia/dysgenesis
White matter UBO’s (unidentified bright objects)
Cerebellar ataxia
Seizures
Strokes
Spina bifida/meningomyelocele
Mild developmental delay (Fortunately really mild.)
Enlarged Sylvian fissures
Generalized hypotonia (Most of hers was concentrated in the upper body, and most of it was fixed with therapy. She still have hypotonia left in her mouth muscles.)

Pharyngeal/laryngeal airway

Upper airway obstruction in infancy
Absent or small adenoids
Laryngeal web (anterior)
Large pharyngeal airway
Laryngomalacia
Arytenoid hypoplasia
Pharyngeal hypotonia
Asymmetrical pharyngeal movement
Thin pharyngeal muscle
Unilateral vocal cord paresis
Reactive airway disease
Spontaneous oxygen desaturation without apnea

Problems in infancy

Difficulty in feeding, failure to thrive
Nasal vomiting
Gastro-esophageal reflux (She had the highest count on her ph study that the GI has ever seen in a child of her age. Most children outgrow their reflux. Unfortunately not Boeboe (nor me or her siblings.)
Nasal regurgitation
Irritability
Chronic constipation (not Hirshprung megacolon) (I do believe that hers could be related to tethered cord as well)

Psychiatric/psychological

Bipolar affective disorder (Currently, she's diagnosed, for now, with bipolar, but we don't have a definite diagnosis yet of what precisely she has.)
Manic depressive illness and psychosis
Rapid or ultra-rapid cycling of mood disorder
Mood disorder
Depression
Hypomania
Generalized anxiety disorder
Schizoaffective disorder
Impulsiveness
Flat affect
Dysthymia
Cyclomania
Social immaturity (For some reason, this diagnosis hit me really hard. She's about the level of a 6-7 year old. Thus, about 3-4 years behind her peers.)
Obsessive compulsive disorder (She has signs, but hasn't been diagnosed with this yet.)
Phobias
Exaggerated startle response

Skeletal/muscle/orthopedic/spine

Scoliosis
Hemivertebrae
Spina bifida oculta
Butterfly vertebrae
Fused vertebrae (mostly cervical)
Tethered spinal cord
Syrinx
Sprengel’s anomaly/scapular deformation
Small skeletal muscles
Joint dislocations
Chronic leg pains
Flat foot arches
Hyperextensible/lax joints (I've only noticed this in her fingers)
Extra ribs
Rib fusion
Talipes equinovarus (club feet)
Osteopaenia
Juvenile rheumatoid arthritis (JRA)
(She also has some disc portrusions that's unexplained)

Skin/integument

Abundant scalp hair (I was really surprised when she was born with so much hair. I loved it!!)

Thin appearing skin (venous patterns easily visible)
Roscea

Speech/language
 

Severe hypernasality (I didn't mark this, but she had a very slight, passing case of this)
Severe articulation impairment (Again, I didn't mark it, but she still have this, but it isn't severe)
Language impairment (usually mild delay)
Dyspraxia
Velopharyngeal insufficiency (VPI) (usually severe)
High-pitched voice
Hoarseness

Vascular anomalies

Medially displaced internal carotid artery
Tortuous, kinked, absent or accessory internal carotids
Jugular vein anomalies
Small veins
Circle of Willis anomalies
Absence of vertebral artery (unilateral)
Low bifurcation of common carotid
Tortuous or kinked vertebral arteries
Raynaud’s phenomenon
Thrombocytopenia, Bernard-Soulier disease

This list comes from the VCFS.org site. There's a few more signs that other medical sites listed, that Boeboe also have. Like a small mouth. Flat profile of the forehead. Almond shaped eyes. And so forth. I haven't made a complete list. The interesting thing is, that alot of Boeboe's indiosynchronies could be because of VCFS (or a similar chromosomal defect). Like the fact that she had no facial expression the first 2 months of life. In documentation, they say it's because the child has hypotonia of the facial muscles. Developmental delays probably caused Boeboe to only smile at almost 10 weeks (as opposed to 3-6 weeks for normal developing babies). She didn't sit when she should've, she was a tiny bit late walking, crawling and still have motor coordination issues. She can't catch a ball to save her life. She said her first words around 15 months, but couldn't say much more than a handful of words at age 2. And until long after age 4, almost no one else, except me and her daddy, could understand what she said. Her articulation was atrocious. She misplaced sounds, she swopped letters like the k and the t, she couldn't say r, some words she took about 8-9 years to pronounce correctly. Some she still doesn't, even now at age 10! Like "rekenaar" (which means computer in Afrikaans). I never realised how bad her language was, until I had Monkeyman. Only then did I understand what normal is, and how very far from normal she was. Mr N was the same, but not as bad off as she was. And when I saw speech therapysts at age 1 and 4 with him, they both assured me he's just behind and he'll catch up just fine. Which he did. So with Boeboe, I tried to relax and told myself she'll also get there in her own time. And mostly, she did. Unfortunately, some of it she still hasn't. Her processing capabilities of language is affected. What she reads, doesn't always make sense to her. For her latest comprehension test in Afrikaans, she for example got 2 out of 15. It saddens me so much, because I feel helpless! How do you overcome a brain defect? How do you overcome a chromosomal defect? I don't know! At times the delay isn't as clear, and she can get 60 or even 80% for comprehension.

It's not just reading and speech that's affected. It's also her understanding of speech and communication. The speech therapyst once said it's like when you say a 10-word sentence to her. She'll hear and understand the first 6 words, but then it's as good as you switching over to Chinese. She just cannot comprehend complete sentences. Which leaves her hanging in class. The teacher will say "for tomorrow, you need to study words A - K, and bring your red book to school". She would expect all 10-year olds to follow that sentence, and be able to follow the 2 requests contained in it. But Boeboe will either hear "for tomorrow, you need to study...blah blah blah". Or, if we're lucky, she would hear "for tomorrow, you need to study words A - K, blah blah blah". So she regularly doesn't have the items at school the teacher requested. Or she doesn't have the complete picture of what she needs to study, and then either just doesn't study it, studies the wrong thing or I have to phone around trying to get hold of someone whose child knows and can tell us. This is really difficult, because most of the time, she just doesn't tell me about it. Which gives her awful, failing marks for classwork that could've been able to let her pass the term, even if/when she fails the exam.

In any case, this is a quick overview of VCFS and Boeboe. So, do you think she could have it? I really don't know. We'll probably decide this week if we should test for it ourselves as well, or not and just wait for the professor's research study to complete.