on January 19, 2014 our perfect little girl was born; Raelin Marie Grube! at 9:53 am she was born and weighted 4 lbs 14 oz and was 17 3/4 long. Many doctors where unsure o what was wrong wt our little princess but after many test we were able to narrow it down. She was diagnosed with a very rare syndrome; Translocation of Chromosome 1 and 9.
While pregnant we were told many different things ranging from Down Syndrome (best case) to Lisnensipholy (fatal- not living past 2 years of age) so when we got this news we were excited but yet concerned as to what little Raelin was going to experience.
Unfortunately, not many doctors know what to expect with this syndrome because it is so rare. However we were prepared to deal with whatever was thrown at us.
Raelin was in the NICU for three weeks (longest three weeks of our lives). While in the NICU, Raelin received all sorts of testings. Her biggest struggle is eating. They put a feeding tube trough her nose that way if she was not able to eat all her bottle or tire out we would still be able to feed her. we even had a Car seat test (since she was so little) if she could sit in her seat for 90 mins with no issues then she would be able to go home with us!
We were luckily able to bring her home on February 6th, four days after our due date. This was very exciting for us and her big sister Tessa. This will be the first time that she would be able to hold her new little sister and get to actually spend time with her!
Since then we have been seeing a Neuro, Gastric, eye, and Genetic doctors. on top of her regular pediatrics doctor.
Raelin Marie will be two months in 2 weeks and we are so proud of our little peanut! We hope and pray that she continues to grow and gain wight!
Types of chromosome translocations
a. Reciprocal translocations
Reciprocal translocations are the most common type of
About 1 in 930 people in the general population have a
These translocations can occur between any of the chromosomes
and involve pieces of any size.
The translocation arises when an exchange of chromosome
material takes place between two different chromosomes; for
example, where there is an exchange of material between
chromosomes number 1 and number 9 (Figure 7.3). Pieces of each
of these chromosomes have changed places.
In this case, where there does not appear to have been any
loss or gain of chromosome material, the translocation is
described as `balanced’
Figure 7.3: A person with this chromosome arrangement has a
‘balanced’ translocation’ with the equivalent of two chromosomes
each of numbers 1 and 9.
The exchange involves loss of the short arms of two
chromosomes and fusion of the remaining two long arms
at their centromeres
The result is one long chromosome that consists of two
long arms of either
- The same numbered chromosome
- Two different chromosomes and containing either
one or both entromeres