Back in May, we had baby number three, a boy. Meet Matthew:


What we found out at around 36 hours is that he has a super rare type of genetic disorder, a urea cycle disorder called OTC Deficiency, it keeps his body from properly breaking down protein, which in turn pumps ammonia into the bloodstream. Thirty-four days in the children's hospital, four weeks of which was in ICU, and he came home.

The day to day caring for an infant tends to be pretty heavy duty by itself, when everything goes perfect, but wow is it exhausting when you have to keep track of dozens of doctors appointments, no less than five individual specialists, and feeding and medication that have to be given every three hours on the hour!

Fast forward three months, and we are now on 'the list' waiting for a much needed liver transplant. In the process of getting screened as a possible live-donor, which is a pretty emotional / conflicted conversation. I mean, on the one hand the possibility of giving my son a chance at a more normal life is amazing! On the other hand? The idea of going under the knife at the same time as him and the real, though statistically very small, possibility of losing us both on the table is pretty terrifying.

Anybody here gone through a major surgery like an organ transplant? Either yourself of a close family member?

Blog here: http://www.healingmatthew.com/

9/6/2013 5:05:14 PM

Thoughts/prayers.

9/6/2013 9:08:38 PM

How does one get tested to be a donor? I've got plenty of liver.

Tell me how and ill go get a test.

I'm sure other tdubbers would be up for this as well.

I love my daughter and only want to help another family out.

9/6/2013 9:23:09 PM

We have been where you are and it does get better!

My son has a rare form of DiGeorge Syndrome. He was born without a thymus gland and as a result had no T-cells to fight off viral infections. Without either a bone marrow transplant or experimental thymus transplant, he was not expected to live more than two years. At six months old, he received donor thymus tissue. We spent the next year on multiple medications, weekly IVIg infusions, and on reverse isolation because of his immune status.

The good news is that it does get better. For the first year or so, I felt like I was being constantly bombarded from all sides. Another problem, another medication, another surgery, another bill... But then you get use to it. And eventually you become a pro at navigating the medical world and existing on nothing but hope and caffeine.

After about 18 months post transplant, things really calmed down for Silas medically. We were able to stop being care takers and really become parents. Without all of his resources being put towards survival, he was able to work on catching up developmentally. Now he's five years old and has been in kindergarten for two weeks just like every other kid his age. He is an extraordinary child leading a very UNextraordinary life. He takes medication twice a day and sees a few more doctors each year, but as a family we've been lucky enough to put the transplant and all of the difficulties of those first years behind us.

Where you are at right now, it is difficult to see the light at the end of the tunnel. But I promise that it is there and that you have no choice but to move forward. There are other parents on TWW with medically complex and/or chronically ill children. Hopefully, they will also reach out to you. I encourage you to network with other parents either through the hospital or online support groups. The friendship and understanding that I have gotten from other parents who have children with DiGeorge Syndrome has been invaluable. No one will understand what you're going through better than the parents of other children with the same illness.

9/6/2013 10:09:59 PM

My friends soon has same disorder. Good luck. Wish you the best

9/7/2013 12:47:24 AM

Thanks for the encouragement! We are still early in the process of course, but the signs of neurological damage are there. What we don't know, and won't for a while, is how bad it is. He seems about a month behind, and won't eat all the food he needs by bottle. Time will tell if the horrible looking images in the MRI are representative of his functional capabilities, or if the brain will grow around, create other connections, etc. Kids are resilient little creatures, but we have to be careful not to be discouraged by things not being perfect.

And as we speak, he's smiling and watching daddy burn breakfast for his sisters…

9/7/2013 9:07:40 AM

Good Luck! Stay Strong

9/16/2013 4:52:05 PM

Good luck, man. My thoughts and prayers are with you and your family.

9/16/2013 8:54:59 PM

Hey guys, this Sunday we are having a benefit concert at Tir Na Nog: http://www.healingmatthew.com/music-for-matthew/

Great food, music, and a bunch of stuff to raffle off!

There will be a donation box on the way in and 10% of food proceeds will go to little mans transplant fund.

10/17/2013 11:48:24 PM

This needs to be moved to Chit Chat so more people will see it.

10/24/2013 10:04:56 AM

^it absolutely does not belong in chit chat

10/24/2013 2:31:18 PM

How about a new TWW cover story?

10/24/2013 3:20:55 PM

^^ I say to put it in Chit Chat so that more people will go to the benefit. Not so assholes can come in and be assholes. I figured that was obvious since my post followed the OP's post about the benefit to raise money for her son.

Maybe make a separate Chit Chat thread so more people will know about this benefit.

10/24/2013 3:46:26 PM

Hey guys, update for everybody. We have been on the liver transplant list for five months, status 1B for four months, with a few other kids still ahead of us. (It's all anonymous naturally, so specific numbers aren't available.) But I am now wrapping up screening to become his living donor, and we may actually schedule surgery as soon as February. It's a pretty intimidating thought, but the obvious "right thing" for him and for us.

Cheers and happy new year.

1/1/2014 9:16:19 PM

Good luck! I will be out of work starting on the 20th of January so if you have other kids that need to be watched during any doctor stuff let me know. I'm a professional nanny with pediatric first aid and CPR certification and could do a few hours of baby sitting for free.

1/1/2014 9:31:49 PM

Wow...best of luck! Just read the post from 12/31. You guys are doing an amazing job!

1/2/2014 1:02:36 AM

Thanks guys, and thanks for reading!

1/2/2014 1:18:01 AM

So with the liver transplant, will he be able to maintain normal ammonia levels?

Just read the 12/31 post on the blog. You guys are awesome parents.

1/2/2014 9:29:13 PM

Good luck! You guys are heroes.

1/3/2014 10:16:43 AM

Your blog is awesome. You're great parents and I hope for the best for your family.

1/4/2014 10:45:54 PM

rjrumfel That is correct. A transplant is essentially the only 'cure' if you will. The cycle takes place only in the liver, and the defect is tied to his X chromosome, as such my liver will be free of the defect, functioning normally.

The high levels have been mercifully absent for months now, but there's no such thing as 'out of the woods' it's a delicate balance of medicine, calories, grams of protein, and avoiding shocks to the system (like the flu.)

1/7/2014 1:27:30 AM

I haven't been on TWW in years. Came out to put something in classifieds and poke around Old School and I found your blog. What a beautiful little boy. I am so sorry for what you have to go through, but it is wonderful to see the strength of your family and all that you have created and are doing in your life. Blessings and healing to both you and Matthew.

1/7/2014 6:14:02 AM

^Thanks for all your help back when Study Hall was the most useful forum on here

1/7/2014 11:44:09 AM

^ Glad to have helped. Had lots of fun back then. Hope Matthew is doing well. Post updates when you can please. Best wishes.

1/17/2014 9:46:31 AM

It's been a while since I gave an update here, Matthew just turned one! It's been a long year, but he is thriving to a surprising degree despite the odds. Lots of physical therapy, occupational therapy, etc. Here's little dude sitting up almost-unassisted:



He'll do that for varying times, depending on his level of energy, distractions in the room, etc. but has been doing it up to 30 seconds as of late, which shows a lot of neck and core control, compared to where he was for sure. With the help of Botox (more on that here: http://www.healingmatthew.com/2014/05/botox/) he's gaining some abilities in the arm control department. It's still hard work, but reaching for toys and bringing hands to mid-line are the focus of the day.

All that said, it's not all work and exercise, and he's a pretty happy boy much of the time: http://instagram.com/p/o6wHA8irA_/

Still, we wait on transplant, continue the process of monitoring is brain for changes. Recently we've been able to wean off all anti-seizure medicines, this is a big win considering the level of damage his brain sustained. Of course, as things are going relatively well, we get another bombshell: Both his sisters are carriers of the disease as well. (http://www.healingmatthew.com/2014/06/sisters-part-3/)



Since it's carried on just one of my wife's X chromosomes, the odds of any one of our children inheriting it are 50/50 per child, and we're now three for three. I don't know the odds on that, but they suck.

Anyway, wanted to drop by instead of lurk for a change, share an update, etc. We are doing a couple cool things right now, we've put together a running team for the Children's Hospital of the King's Daughters (where his life was saved several times in that first month) that's coming up in a week. (http://www.healingmatthew.com/celebrating-a-year/) It's a great cause, and without their dedicated team of doctors, nurses, child life experts, and social workers we would be in a completely different place today. We're also now selling silicon bracelets (because, why not?) Info on those for those interested in sharing Matthew's story: https://squareup.com/market/healing-matthew/healing-matthew-silicone-bracelet

Alright, back to lurking. Cheers.

6/9/2014 1:21:18 AM

So as carriers are they at any risk or does this just affect their future children?

6/10/2014 12:09:26 PM

As carriers, they are at risk, but it's unpredictable. Because women have two copies of the gene (one on each chromosome) they can potentially go a life time and the body will simply rely on the non-mutated version of the gene with no ill effects. There is no guarantee, but since my wife has never seen any of the symptoms in herself, we feel pretty good about the chances of the girls never exhibiting symptoms.

As for symptoms in carriers, unlike little Matthew whose liver failed to function in this capacity from birth, carriers are generally only symptomatic if and when they have a triggering event. An event can be anything from trauma, to pregnancy, to a growth spurt, to an infection, and even simply eating an unusually high amount of protein.

We basically have to just 'wait and see' while keeping a diligent eye out for neurological symptoms in the girls that might indicate that they are having a low-level hyper ammonemic event, prior to it becoming severe. (Since they do have one functioning gene, we would expect to see slower, less severe onset.)

Make sense? elise

6/11/2014 3:25:23 AM

Yes. It is similar to digeorge that my friends kids have, the girl shows way less symptoms than the boy because of he chromosome it exhibits on.

6/11/2014 9:07:47 AM

He looks absolutely adorable! Will there come a time with his disorder that you are 'in the clear' ? Or is this something he will always need to control to whatever extent he can?

Edit: I just read your blog, and it answers a lot of questions and brings up new ones. But mainly, what happens after the transplant? Matthew seems awesome. I love how happy he looks in all of his pictures. I am praying for your family.

[Edited on June 11, 2014 at 9:36 PM. Reason : ]

6/11/2014 9:29:41 PM

I am empowered by the love shown in this thread.

6/12/2014 4:37:38 PM

Beethoven feel free to ask away. In a nutshell, we aren't ever going to be 'in the clear' until after transplant. Once he is transplanted, Matthew will no longer be at risk of hyperammonemic episodes due to OTC. Unfortunately, the damage to his nervous system is permanent, and while the human brain won't grow back per se, it is known to create work-arounds and form new connections, particularly while very young. By going for transplant, we are trading one disease for another, and he will spend the rest of his life on immunosuppressants (eventually in a very small dosage) to prevent organ rejection.

Thanks for all the kind words.

6/20/2014 12:04:29 AM

We're having a son, due august 15, but likely will be earlier. An ultrasound a couple of months ago showed his heart was pushed all the way to the right. Further investigation uncovered a large mass where the upper left lobe of his lung should be. The last 8 weeks or so had us in weekly ultrasounds, and bi-weekly trips to CHoP in philly to measure the growth of the mass, as there was danger of it pushing the heart against the chest wall to the point where it would fail. About 2 weeks ago it seemed to stop growing, and as the baby grew, it gave the heart more room, so there's a little bit of relief there.

In about 3 weeks, we'll be going up to philadelphia for about a month and a half. we'll know in a week or two when they'll schedule the c-section. he'll need open-chest surgery shortly after birth to remove the mass/upper left lobe of his lung.

6/20/2014 11:03:37 AM

Prayers and/or best wishes. Hoping for the best either way.

6/20/2014 4:00:49 PM

Wow Bobby. That's pretty serious stuff. CHoP is a great hospital, you're in good hands, and so is he.

6/22/2014 9:47:57 PM

thanks y'all

6/23/2014 11:37:48 AM

Latest update: Matthew's listing has been broadened to include split liver donation as an option. This dramatically broadens his potential donors, but a type O+, still leaves him with a relatively narrow field. Hoping for 'the call' soon.

7/24/2014 3:15:32 PM

What type can O positive get? Only other O positive?

7/24/2014 10:06:08 PM

^ For blood transfusions, O neg also.

7/25/2014 2:33:36 PM

O can give to anyone
AB can recieve from anyone.

RH factor (+) means you can only give to those with it, but receive from both.

7/25/2014 3:58:13 PM

That sucks. I'm B positive. Good luck.

7/26/2014 2:13:32 PM

What are the conditions that must be met for a donor?

7/26/2014 9:36:15 PM

There are size based matching factors, location of veins and bile duct. At this point they aren't planning to utilize a live donor, since he is stable, they prefer not to put another healthy patient under the knife (myself included.)

Incidentally, 24 hours ago we got a call from the hospital. We had to drive up last night as an alternate recipient. The original recipient ended up being a match once the got eyes on the liver and received the transplant sometime today. So, home we go, back to waiting.

7/27/2014 11:27:01 PM

^That must be all kinds of an emotional/scary experience. Hopefully the next time you get the call it will be the real thing, and you won't have to go through that kind of wait again.

7/28/2014 8:36:54 AM

Thanks for the continued updates.

I know how you guys must feel. My son is terminally ill with mitochondrial disease. He has a genetic mutation that causes his body to not produce enough energy, so as he grows older he won't be able to supply energy to his organs.

He is severely developmentally delayed, and has goods weeks and bad weeks doctor-wise.

Keep your head up.

7/28/2014 9:29:03 AM

bottombaby's youngest is going in for her third surgery in 8 days tomorrow. This surgery already failed once 2 years ago.


http://www.gofundme.com/ctfoos

8/10/2014 10:36:15 AM

I just wanted to update this thread to say that Matthew is undergoing surgery right now in DC for his liver transplant. His ammonia stayed low in the first part of surgery and the new liver went in at 9:15am today. Fingers crossed. More updates to come I'm sure.

8/24/2014 12:00:17 PM

FYI, the liver went in OK and he is currently in PICU recovering. His ammonia levels stayed fairly normal through the surgery (if I'm reading these updates right) and now it's time to see how quickly he can heal.

8/24/2014 6:55:35 PM

Glad to hear! Keep us updated!!

8/24/2014 7:52:36 PM

The fb posts are little more current https://www.facebook.com/HealingMatthew

8/25/2014 5:26:21 PM

Things are crazy. We were transplanted on Sunday, since then we've been extubated, found a clot and went back into the OR, then after a day of rest extubated again, and today we've been weaning off various medications and even smiling once in a while.

My wife did a fair but of blogging for the first four or so days here: http://www.healingmatthew.com
And we have, as mentioned above, been updating the facebook page regularly here: http://ww.facebook.com/healingmatthew

8/29/2014 7:53:25 PM