Personally, I am healing well and finally getting back to myself. Since the emergency surgery that I had after delivering Spencer, I had to take it incredibly easy. I was actually on a weight limit for two months of only 10lbs, which was difficult, but we managed very well. I went in for a check-up on May 1st hoping to get fully released from my doctor, but unfortunately since I had "MAJOR" trauma she asked that I hold off for 3 more weeks. I was a bit down about it but understood that it wasn't just a c-section and another surgery, it was MAJOR and I needed to take care of myself. So I went back to my doctor on May 22nd and I got the full release finally, but was told to listen to my body and rest when I needed. A few weeks after getting fully released I started getting very tender again and went in to see the PNP there at the office. She said everything looks great and it is nerves reconnecting, which is a good sign. I feel blessed that it wasn't anything serious!!
I had also been seeing my pulmonologist since I had been released from the hospital. I could tell that my breathing was more difficult after my release from the hospital so they continued to monitor me. My pulmonologist gave me an inhaler to take and then recommended me for an echo. I have a heart murmur that he just wanted to make sure it wasn't something more since all of the trauma I had. Results on my murmur were fine and said that I just need to listen to body. I had also been released from this doctor and his final orders were to not come back to him - I PROMISE I WON'T!!
We also received information regarding the Chromosomal Micro-Array Analysis (CMA) that was done on Spencer. Below is the information from our genetic counselor at TCH. Unfortunately it did not give us the information we were hoping for, but were grateful in the information we receive regardless. At this time, we are still not going to do any further genetic testing on us or our son, but know that if we decide this down the road, the option is there.
CMA was performed on a skin sample collected at the time of your son’s birth. This was done to see if there was any deletion or duplication of chromosome material that could explain the diagnosis of LUTO and to inform future pregnancies. It was also to investigate whether there were any changes that could give us insight into the extra material seen on chromosome number 4 on the karyotype that was performed during your pregnancy.
We discussed that the CMA results were normal and did not show any gains or losses of material that are associated with known genetic syndromes. Therefore, the CMA did not give us an explanation for the LUTO diagnosis. This makes it more likely that it occurred by chance and would not be likely to happen again in future pregnancies. However, this can also be frustrating news because it does not give us an answer for why this happened to your son.
These new test results also did not give us any further information about the extra chromosome 4 material. When Baylor Medical Genetics Lab initially reported out that finding, they stated that it was suggestive of satellite DNA. As detailed in the previous letter, this is a type of DNA that is made of many repeating sequences of letters and is not involved in making proteins in the body. The fact that no medically relevant genes were found to be duplicated on the CMA makes it more likely that this extra material is in fact satellite DNA and would not be expected to have an effect on a person’s health.
It may be that this extra material was inherited from a parent who also carries extra material on one copy of their number 4 chromosome, or it could be something that happened new for the first time in your son. We also discussed the possibility that it could have come about as a result of a balanced translocation in a parent becoming unbalanced in him. If you and your husband wanted to investigate this possibility further, it is possible to perform chromosome analysis on the two of you. As we discussed, the parental chromosome analysis is unlikely to give us an explanation for the LUTO diagnosis, but could clarify our assessment for future pregnancies and hopefully rule out a translocation. This is an optional test and is available at any time should you decide you want that information.
Right before July 4th we received the final report of Spencer's autopsy. Although this was very difficult to review, it was closer for us. There was information that we did not know of our sweet Spencer, but then information that confirmed what we already knew. I am inserting a small portion of the report below for you to read which summarizes the full 21 page report that we have. Reading this might be difficult for some, as the words on paper really express the unfortunate circumstances that our sweet boy encountered. These are snapshots of the actual pages we received and is broken up into two images.
Again, I want to thank everyone for their continued prayers for our family and all the support we received from everyone since March 17th. We were and still are truly overwhelmed by it all and words can not express how much we appreciate everything. I will do my best to update this blog just to let you know how our family is doing.
"The Lord bless you and keep you; the Lord make his face shine on you and be gracious to you; the Lord turn his face toward you and give you peace." Numbers 6: 24-26
