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  • Nadya Tahri

Searching for a diagnosis for my child with special kids and I’s backstory part 2

In today's blog post, I will be continuing the story of getting my son's diagnosis....Part 2.

For those of you just finding out about me for the first name is Nadya Tahri and I am a mom of 4 with my youngest 2 having special needs.

I wanted to create a podcast where other parents who have a child with special needs could come to get some tips, suggestions and encouragement. So if you prefer to listen to podcasts more than reading a blog, head over to my podcast called "Special Needs Parenting SOS". Here is the link to my podcast that talks about part 2 of my kids and I’s backstory.

So last week during part 1 of my kids and I's backstory, I left off with my mom was in the hospital after having a blood clot that went to her brain, causing her to have a stroke and then 5 seizures.

While my mom was in the hospital, I received the call from the endocrinologist at Doernbecher and she told me the results of the blood work came back confirming that Isaiah and my nephew Amir both had the same syndrome called Allan Herndon Dudley Syndrome.

My mom ended up making a Complete recovery in about 3 weeks after her stroke. She regained her ability to walk, talk and feed herself again, which I will forever be SOO grateful for!! I had prayed so much that God would heal her and allow her to have her life back again and He sure answered my prayer.

Now, the next part of this story is when I found out I was pregnant with my 4th baby.

I was hoping and praying it was a girl. I remember praying "Please Lord, please please let this baby be a girl." It turns out with their syndrome Allan Herndon Dudley Syndrome.

It seems to only affect the boys. And I'm not sure why that is.....but if it's a girl, the girl doesn't have the effects of the syndrome.

She can be a carrier of the syndrome, but she wouldn't have the effects of the syndrome. For some reason it only effects boys.

So I was praying to the Lord.....that this baby would be a girl. So when I found out I was pregnant, I went in to see the doctor and I said "I want to find out as soon as possible if this baby is going to be a boy or a girl....because if it's a boy, I just would like to know so that we can mentally prepare ahead of know if we may be facing having 2 children with disabilities, so that would be 2 wheelchairs and double the doctors appointments and therapy appointments.

So I said "Could we just figure out as soon as possible whether it is going to be a boy or a girl or do I have to wait until I am like 20 weeks pregnant to find that out?

I remember the doctor saying "No, no, no, you don't have to wait that long. We can find out much sooner." I think he said we could actually find out the sex of the baby as early as 12 weeks along. I can't remember exactly, but sometime around there.

So, I was Really happy about that! So, my doctor sent me in to see a geneticist and it took us a while to actually get to SEE the geneticist.....but by the time we finally got in there, (quick side note, I guess that they can tell the sex of the baby through blood work, but they didn't need to even do that because by the time we got in for my appointment, I was far enough along that they were able to tell the sex of the baby just by doing an ultrasound. I'm thinking I was maybe 14 weeks pregnant at the time....maybe 15 weeks......somewhere in there.

So anyways....I remember the lady doing the ultrasound saying "It's a boy."

I said "Are you sure it's a boy?"

And she said "Yes, it is for SURE a boy!"

When I heard that news....I was bummed because I was really hoping it was going to be a girl. And then it went from being bummed to "Oh dear Lord, please don't let this baby have the syndrome."

Now since I have an older son, Elijah, who is 20 years old and he is not affected. He doesn't have the syndrome. So, just because I am a carrier of this syndrome doesn't mean that every boy that I get pregnant with is going to have the syndrome.

It's not a guarantee.

It's a 50/50 chance.

It's kind of one of those things where it's just the way it works out.

So anyways, once I knew for sure that it was a boy then, I just started praying that he wouldn't get the syndrome. That, like Elijah, he would be born without having the syndrome.

But I found out that they could actually draw from my amniotic fluid, that they could actually suck it out, kind of like how they test for Down Syndrome or other things, they just insert a needle into your stomach and suck out the amniotic fluid and then they send it away for testing.

Well, that is exactly what they did with me, expect we weren't testing for Down Syndrome or anything else. We were specifically testing to see if this baby had the Allan Herndon Dudley Syndrome.

Interestingly enough....there is only ONE doctor in all of the United States of America who specializes in studying Allan Herndon Dudley Syndrome.

His name is Dr. Refetoff and he works out of the University of Chicago.

In last weeks blog post, when I mentioned that we all had our blood work tested to see what Isaiah and Amirs diagnosis was, THAT is where we sent our blood work. We sent it to Dr. Refetoff at the University of Chicago.

So, this is where we sent my amniotic fluid. We sent my amniotic fluid to him and he did the testing there at the University of Chicago and when we got the results back, And yes, in fact this baby tested positive for having Allan Herndon Dudley Syndrome.

It was confirmed.

So then it was "OK" and we were coming to terms with the fact that now both of my younger children would have this syndrome and so that was that.

But then, here is where the story takes a little twist.......

Dr. Refetoff contacted my geneticists and asked the geneticist to talk to me and to ask me if I wanted to participate in....well basically in an experiment.

So the geneticist sat Scott and I down and basically explained what Dr. Refetoff was thinking about injecting this levothyroxine (which is basically a medicine for anyone who has hypothyroidism or something wrong with their thyroid).

Dr. Refetoff wanted to inject this levothyroxine directly into my amniotic fluid in hopes that it might help my baby while my baby was developing in the womb.

Now, this had never been done before.

So it's not like we had any examples to look to... to see "Is it worth it?" "Will it help?" "If it does help, how much will it help?

There were SOO many unknowns and it wasn't just that there were so many unknowns.

It was very, very risky because this needle was Really really long...and for them to inject it into my womb every single week would put the baby at greater risk for miscarriage or my water breaking any number of complications so it was definitely something that we had to think about because obviously we didn't want to loose the baby, but on the other hand....if these injections of the levothyroxine could really help the baby, then we should probably do it....right?

So there was that time period of trying to figure out what we should do and then finally I decided "Let's do it! Let's do it!"

"If it will help this baby then we have to do it!"

But THEN we found out that these injections of levothyroxine put into the purist liquid form.....were about $650 per injection.

And Dr. Refetoff wanted me to get an injection every single week for the duration of my whole pregnancy. And I was like "WOW! Well there is absolutely NO WAY! We totally can't afford that!"

"$650 dollars every single week for the duration of my entire pregnancy!??


So then I had to say "No" because we just simply could not afford it and I felt really bad because I would have LOVED to have gotten those injections, but it was simply NOT something that we could afford.

Well then Scott went and called his parents and was saying "So this is what is going on......this is the situation....bla, bla, bla...."

and they said "She absolutely HAS to do it!! If there is a chance that these injections could help this baby.....that is our grandchild....we will pay for it!"

Then Scott was like "No, that is a lot of money. We can't."

But they just insisted.

So then Scott talked to me about it and I said the same thing that he had said earlier....."No way! That is way too much money! We can't have them pay for it!"

But then he said "Should we let our pride get in the way of our baby potentially having a better life!?"

When he worded it that made me feel like "Oh WOW! I guess that is kind of selfish. I mean, I shouldn't let my pride get in the way, if this could help our baby."

So we decided to go ahead and let his parents pay for the injections IN THE HOPE that it would help this baby.

So then I went in every single Friday and it was extremely painful, but I did it anyways because obviously it was worth it to take the chance that it might be able to help our baby.

Week after week, I went in and got the levothyroxine injections and THAT is where I am going to wrap up for today.

Next week, I will be back for part 3 of my kids and I's back story to share about the results of what happened from me getting those injections. So stay tuned and I will see you back here next week.


Also, I would love to invite you to join my private Facebook group, strictly for parents who have a child with special needs to get the support, encouragement and connection that we all need. If you’d like to join...the name of my private Facebook group is called “Special Needs Parenting SOS”. Just click this link if you'd like to join my private Facebook group

Looking forward to connecting with you! Have a great day! 😊👍

#AllanHerndonDudleySyndrome #AHDS #MCT8 #endocrinologist #diagnosis #pregnancy #ultrasound #boy #amnioticfluid #testing #experiment #Dr.Refetoff #UniversityofChicago #geneticist #research #injectins #levothyroxine #highrisk #bloodclot #stroke #seizures #hospital #SpecialNeedsParentingSOS

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