Recent Diagnosis
Whether your child was recently diagnosed, you are waiting for confirmation results or just trying to learn more about galactosemia, you’ve come to the right place.
A cataract is a clouding of the lens of the eye. The lens is a crystal-clear, flexible structure near the front of the eyeball. It helps to keep vision in focus, and screens and refracts light rays. The lens has no blood supply. It is nourished by the vitreous (the watery substance that surrounds it). Cataracts may form in one or both eyes. If they form in both eyes, their growth rate may be very different. Cataracts are not cancerous.
Appropriate health care includes treatment by an ophthalmologist or surgery to remove the lens.
Cataracts are one of the possible complications of classic galactosemia. Cataracts are mostly observed in newborns but can also occur in adults. It is thought that 10-30% of newborns with classic galactosemia develop cataracts in the first few days or weeks of life. Once a newborn is put on a galactose-restricted diet, cataracts usually clear up on their own. Surgery is sometimes necessary in rarer cases.
It is believed that if the galactose restricted diet is followed, cataracts do not develop in galactosemic children.
Many patients have eye examinations to check for the presence of cataracts on a regular basis. More frequent during the first year of life (e.g every 3-4 months), such exams can be reduced in frequency (e.g. 1 or 2 times a year) in older children. It is a good idea to have an eye exam if for some reason Gal-1-P levels are observed to rise above a ‘target’ range.
A learning disability is a disorder that interferes with a person’s ability to master a skill (such as reading, writing, arithmetic concepts, etc.). Learning disabilities can show up in many ways such as, specific difficulties with spoken and written language, coordination, self-control, or attention.
Learning disabilities can be lifelong conditions that, in some cases, affect many parts of a person’s life: school or work, daily routines, family and social life. Some people, may have overlapping learning disabilities. Other people may have a single, isolated learning problem that has little or no impact on other areas of their lives. Also, some individuals can manage, or even overcome, learning diabilities with focused therapy or specialized instruction, and/or medication.
It is important to know that not all learning problems are necessarily learning disabilities. Many children are simply slower in developing certain skills. Because children show natural differences in their rate of development, sometimes what seems to be a learning disability may simply be a delay in maturation. By law, learning disability is defined as a significant gap between a person’s intelligence and the skills the person has achieved at each age.
(Source: NIMH -National Institute of Mental Health – for more information see their web page at www.nimh.nih.gov)
Learning Disabilities and Galactosemia:
Although know one really knows exactly why, there have been some specific learning disabilities associated with classic galactosemia. (note – there have been no learning disabilities positively associated with Duarte Galactosemia). Even some children who were diagnosed relatively quickly after birth and who are following the “restricted diet” have developed learning disabilities. Some of the learning disabilities associated with galactosemia include: speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading in school. Unfortunately, there are no firm numbers to quantify the percentage of galactosemics who experience learning disabilites.
It is important to know that not all children with galactosemia have learning disabilities. Because many galactosemic children do have problems, it is something very important to be aware of in observing a child’s development.
One aspect of learning disabilities and galactosemia that is important for parents to keep in mind is that neurological impairments (e.g. fine motor difficulties) can sometimes present themselves “disguised” as a learning disability. For example, a child with trouble writing numerals or pointing may appear to have a learning disability with regard to arithmetic concepts, when the case may well be that the child understands the math concept just fine, but simply cannot control his/her writing sufficiently well enough to demonstrate mastery of the concept. It is important to note that a child may in fact have both problems.
How do i know if my child has a learning disability? (ages 0 – 3)
Because every child develops differently, this can be a difficult question to answer. Your child’s pediatrician should be your first source of information. He or she should be able to, with your input, notice any signs of problems in your child’s development. Be sure to inform your doctor of the types of problems that have been associated with galactosemia. (Because galactosemia is very rare, your doctor may know very little, if anything, about galactosemia). If he/she knows what to “look for”, it can be very helpful to him/her. Also, sometimes parents know best, so if you suspect a problem, and your doctor does not agree with you, get a second opinion. Research shows that the earlier a problem is treated, the better it is for the child. Remember to keep in mind that children develop at different rates – learning disability is defined as a significant gap between a person’s intelligence and the skills the person has achieved at each age.
What kind of services should i get for my child if i suspect a developmental problem or learning disability?
Many local school systems offer free programs for young children (infants and toddlers) as well as for older children. You can call your local school system to ask for an evaluation for your child and/or to ask that your child be put into a program that would be appropriate for him. If you are unable to get services form you local school system, try a private therapist/teacher or institution. Some medical insurance companies may pay for all or part of these services. Check with your own policy.
Along with well documented speech and language disorders, neurodevelopmental delays are also sometimes observed in galactosemic patients. By some estimates, galactosemics experience trouble with gait, balance, and fine motor tremors in anywhere from 13 to 20 %.
In one study, 45 individuals with galactosemia were examined. In that study, 12 individuals were observed to have neurological symptoms that included ataxia, tremors, and dysmetria.
Ataxia is a total or partial inability to coordinate voluntary bodily movements (as in walking, etc.).
Tremors are rhythmic, involuntary muscular contractions characterized by oscillations (to-and-fro movements) of a part of the body. The most common of all involuntary movements, tremor can affect various body parts such as the hands, head, facial structures, vocal cords, trunk, and legs; most tremors, however, occur in the hands. Although the disorder is not life-threatening, it can be responsible for functional disability and social embarrassment. There are different types of tremors. One type is Kinetic or Intention tremor which occurs during purposeful goal-oriented tasks, for example finger-to-nose testing.
Dysmetria is improper estimation of distance during muscular activity. Dysmetria includes both hypo- and hypermetria. With hypermetria, voluntary muscular movement overreaches the intended goal; with hypometria, voluntary movement falls short of the intended goal. Hypermetria is more commonly recognized than hypometria.
If you suspect that your child may be exhibiting symptoms of any of these conditions, consult your child’s medical professional and alert them to the possibility that such a condition may be related to galactosemia. Treatment for these conditions include various types of phyical therapy and/or medications.
A majority of girls/women who have classic galactosemia experience Primary Ovarian Insufficiency. However, there are women with classic galactosemia who have successfully conceived and given birth. To date, the reason for the high rate of ovarian failure is not known. Talk with your child’s geneticist to get the latest information about this issue. There are some tests (hormone level testing) which may be performed to check the condition of the ovaries.
(Note: There is no evidence that galactosemia has any negative effect on the reproductive health of boys.)
It is believed that approximately, 60% of classic galactosemic children have speech problems. Problems range from mild to moderate or severe. One type of speech disorder that has been associated with classic galactosemia is apraxia of speech, often referred to as dyspraxia. Dyspraxia is not a developmental delay of speech. It is considered a “motor speech disorder”.
Verbal Dyspraxia:
A sensory motor disorder of articulation characterized by impaired capacity to plan the positioning of speech musculature and muscle movements for the production of speech sounds.
While it is primarily an articulation disorder, there are a number of other related communication problems associated with dyspraxia, such as: problems of syntax (word order), language organization, and pragmatics (set of rules governing conversation). (note-Reading, writing, spelling, and spatial awareness can also be affected.)
If you suspect that your child has this disorder, or some other speech problem, have your child evaluated as soon as possible. The sooner speech therapy is started for a child who needs it, the better. Hearing tests are usually performed first to rule out any kind of hearing impairment. If your child’s hearing has been checked, and a hearing problem has been ruled out as a cause for speech problems, have your child evaluated by a qualified speech pathologist. You may be able to find a qualified speech pathologist through your local school system (early intervention program.) If you suspect dyspraxia, be sure to find a speech language pathologist who is qualified, and has experience with diagnosing and treating a motor speech disorder (or oral motor function disorder). To find out more about dyspraxia and what things to consider in getting a speech evaluation, the following web sites describes much more in detail.
Whether your child was recently diagnosed, you are waiting for confirmation results or just trying to learn more about galactosemia, you’ve come to the right place.
First discovered in 1908, Galactosemia is a rare condition where the body has trouble breaking down a sugar called “galactose.”