Day 600 - ❗Updated❗ Genetics Appointment 🧬 (Long Post)

Monday, August 22nd, 2022

Early this morning was out long awaited genetics appointment. We scheduled this appointment in January and August was the first available. This appointment was one of nine that was a required follow-up after we were discharged. 

Mom met with the Doctor of Genetics back on April 22nd, 2021. James was just past his full term due date (April 8th) and was in the NICU having BPD episodes frequently. We'll post a comparison photo below. He looks like a completely different baby. 

So we knew going into the appointment that is would be kinda pointless for us, meaning there wasn't going to be any testing or any new answers for us. We had whole exome sequencing testing done back in the NICU and the results were negative. This means that Mom and Dad does NOT have recessive genes for osteogenesis imperfecta. However James carries a part of a recessive gene on his 4th chromosome for osteogenesis imperfecta Type II. This genetics team is trying to get done to the bottom of the mystery of where this partial gene came from. We have gone over our family history several times. Mom's father passed from colon cancer, Dad's mom passed of ovarian cancer... and going every single cancer diagnosis, death, and miscarriage for each immediate family member because maybe that will help. Maybe not us but someone in the future. The appointment was at USF and there were several interns and doctors in our little room. These are research scientists and essentially we went to this appointment to be a part of their research study. 

There were a couple of comments that were very off putting. We won't get into the details but overall we left the appointment feeling discouraged and disappointed. The doctor made a comment about how we should continue to look into this (James' partial recessive gene) to determine if we should even have more children. In the Doctor's eyes... our 20 week stillbirth combined with James' situation, and our 7 week miscarriage (while we were in the PICU) caused concerns for her about our genes not being compatible. What is concerning (especially for Mom) is the lack on knowledge on James' "condition" and on IVF. We understand that it is nearly impossible to know everything about everything but a doctor should know the following...

1. James has Bronchopulmonary Dysplasia
2. James got BPD from being taken out of the womb so early, it is NOT a genetic disease
3. Most born with BPD are able to get off the ventilator and live completely normal lives
4. James was only born early to save Mom's life (severe Preeclampsia)
5. Preeclampsia is more common with IVF
6. Miscarriages and stillbirth are very common with IVF
7. Spontaneous mutation in the sperm can happen causing random genetic diseases that both parents do not carry

She didn't seem to know any of this and therefore a lack of knowledge has her assuming it's genetics and family history and suggesting not to reproduce. Basically asking us do not spread any more potential genetic diseases so the human race has a better chance of perfect genetic makeup moving forward, even though neither parent carries the recessive gene and all of our testing came back as normal. Absolutely ridiculous and sounds a little too familiar. 

There is a possibility there is a link between Preeclampsia and BRCA1, which is what runs in Dad's family. (But this isn't research done by this team, this was done by Mom and Dr. Google.) At this point, everyone has been tested on Dad's mother's side except him. There is a 50% chance that the gene gets passed down. The doctor seemed to think that since out of the six siblings five of them tested positive that Dad should be negative. Statistically speaking. We just assumed he would have it. He really should get tested to know for sure. If positive, this will give him the opportunity to get earlier screenings done. Moreover it would be good information to have for James so that way we know if James needs to get tested as well.

So we left the appointment being told we need to call in 6 months to schedule for a year out. 😂 We will see! Maybe for science 🧪 but maybe not. 😉 If the doctors are not taking their time to do their due diligence or at least a few minutes to look at his chart before walking into the room then how good is this research going to be? 🤷🏻‍♀️

Continued...

Reasons why (we believe) we have infertility...

We have MF infertility and believe that the cause is not genetic. Why? Several reasons.

1) Dad's siblings on both sides have children.

2) We believe it is due to environmental toxins and nutritional factors like high dose radiation exposures from cell phone/Wi-Fi usage and vitamin deficiencies. (In case anyone is also going through the same thing we want to let you know that an increase in weightlifting and vitamins dramatically increased sperm count.)

3) FACT: The proportion of men with a normal total motile sperm count has declined by approximately 10% over the previous 16 years. The science is consistent: Men today produce fewer sperm than in the past, and the sperm are less healthy. 

So with all these considerations, especially the fact that we were able to see an increase with changes really speaks to the fact that it's not genetics. Trust but verify. If you feel like a helpless victim by the medical field then you would be willing to do anything and pay anything to fix it. Rant over.

The last time we saw Genetics in April 2021.

Trying to grab the phone

Not getting the phone

P.S. You can email James your love and support as often as you’d like. Mom and Dad read these email to James as they come in. We all love them! JamesWestonAbramowitz@gmail.com