27/02/2025
Rare Disease Day is Feb. 28th.
•1 in 10 people have a rare disease.
•I have a partial deletion of the 4th chromosome called 4p-/ Wolf-Hirschhorn Syndrome. (1 in 50,000)
•1 out of 3 don't make it to age 2.
•They can have epilepsy, severe developmental delays, heart defects, kidney defects, cleft palate and/ or cleft lip, severe feeding issues, some never walk, some never talk, and we are never guaranteed a day. Tyson has a feeding tube and a trach/vent. He relies on a wheelchair to get around.
Here’s a more thorough breakdown:
Chromosomal condition known as
WOLF-HIRSCHHORN SYNDROME/4p-
Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first discovered in 1961 by the Americans Herbert L. Cooper and Kurt Hirschhorn (recently passed away in December), and thereafter gained worldwide attention by publications by the German Ulrich Wolf.
People have millions of cells in their body. Every cell has 46 chromosomes. 23 are from the father and 23 are from the mother. The chromosomes are arranged in 23 pairs. Researchers have numbered each pair from 1-23 to study them more easily.
Chromosomes are shaped in the upper and lower portions called arms. separated by the "waist bands... " The shorter arm of the chromosome is called "P" and the long arm is called "q". For children with Wolf-Hirschhorn syndrome, a section of genes is missing from the short arm "p" portion) of one of the number 4 chromosome in each pair. One of the number 4 chromosome is normal and one has a deletion, In 1965, Wolf and Hirschhorn published a report showing that there was a syndrome with a deletion on the short arm of the 4th chromosome in group B. The amount of materials deleted may range from about 50% of the short arm to a small break that cannot be detected by normal chromosome analysis. Much of the clinical variability seen in WHS is probably due to exactly which segment of the chromosome is deleted in a particular person. It is unknown what causes deletions of chromosome to occur chromosome errors. They occur most often during formation of eggs and s***m. If a s***m or egg that has an error is involved in conception, the developing baby will have a chromosome abnormality.
Damage to the chromosome is outride of our control. There is no evidence to link lifestyles. Nothing either parent could have done could cause or prevent the deletion.
It is a genetic disorder, which occurred spontaneously as a genetic error, and in most instances are de Novo (new or sporadic) events. In 10-20% of the cases the deletion can occur as result of a translocated chromosome in the parent.
The parent's chromosome should be studied to determine whether either is a translocated carrier parent, which is seldom the case. Recurrences do not happen unless parent is translocation carrier.
Incidence is very rare. By 1981 there were only 120 cases reported worldwide. The amount of children and adults identified is increasing, not necessarily because the syndrome is occurring more often, but instead because children who were not identified in the past are now being identified, Life expectancy is unknown. Because of the wide range of deleted material, the effect on children varies widely. Some can walk, talk, while others are not verbal and require constant care.
Some are near normal height and weight while others at age 20--30 years old weigh only 35-50 pounds an and are only 45--55 inches tall The medical involvement also varies from near normal to severe heart and other problems... However, a common trait seems to be that all children are happy, loving children.
Genetics:
Wolf-Hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescent in situ hybridization (FISH).
If you’ve made it this far thank you so much for your efforts to self-educate!
Show your support for our Tyson and the many thousands with countless rare diseases by wearing blue jeans, blue, and for bonus points blue jeans with holes in them to celebrate our kiddos with "holes in their genes" on February 28th
Don’t forget to tag me in your pics! ☺️
