Long Road to Diagnosis and Just Had a Baby

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KateMMA

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Hi everyone! I'm a 37 year old woman and I was recently diagnosed with ALS after a previous diagnosis of Hirayama's Disease. I have a second opinion scheduled for January 5th with the UCSD ALS Clinic.

I started having symptoms in January 2018 when I was pregnant with my first son. I couldn't disassemble my pistol (I was in the Navy at the time but I was in the Marine Corps before that and had been shooting pistols and rifles for 10 years and never had a problem before) but attributed my hand weakness to my pregnancy because there are so many strange symptoms when you're pregnant.

I had small issues with other things using my hands but thought it was because I was an exhausted new parent. I then noticed atrophy in my left hand in October 2018 and saw my doctor who referred me to OT who referred me to PT who referred me to Neuro who referred me to a neuromuscular specialist who diagnosed me with Hirayama's in February 2019 because it was isolated to my left hand and forearm.

Follow up EMG was July 2019 with no change and we were reassured it was Hirayama's. I got pregnant with my second son shorty after that. I was medically retired from the Navy in January 2020 because of the Hirayama's diagnosis.

Shortly after that, while I was pregnant, my symptoms started worsening in my left arm and I suspected they were starting in my right. My son was born in April 2020 and I had a follow up EMG in June 2020. We found out it had moved up into my left shoulder and right forearm and hand. My neuromuscular specialist said she had concern for ALS but since every other region came back clean, it was still Hirayama's.

We moved to Hawaii in September 2020 (my husband is still in the Marine Corps) and I had my first appointment with my new neurophysiologist and he did an EMG and found abnormal readings in my left leg. He says it's ALS and wants to start riluzole. He's eager to hear the second opinion from UCSD but he's sure it's ALS.

It's been a long and emotionally exhausting rollercoaster of a road. We thought we were in the clear and then it got worse but we were still holding onto a shred of hope that it was Hirayama's. It seems like that hope is lost now and we have some tough decisions to make.

I just hate that I'm going to be putting my husband and family through this and that my boys' childhood is going to be marred by doctors visits, medical equipment, hospice, etc.

Thanks for reading, I know I'll get a lot of information on this forum and I'd love to help others in any way if I can.

One question: Does anyone know if you can take riluzole if you're breastfeeding?
 

Nikki J

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I am very sorry that your diagnosis changed. Hope for very slow progression for you

re breastfeeding. I looked it up this is from the prescribing instructions in the US

Summary of Use during Lactation​

Limited information indicates that maternal doses of riluzole up to 100 mg daily produce low levels in milk and would not be expected to cause any adverse effects in breastfed infants, especially if the infant is older than 2 months. Until more data are available, use riluzole with caution, particularly when breastfeeding a newborn.


apparently in Canada it is contraindicated.

talk to your pediatrician
 

EricInLA

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So sorry to hear this story. My timing is strikingly similar to yours. Symptoms first appeared in May, 2018, but then further scary signs in October, 2018, and hand atrophy in October, 2019. At that time, my neurologist was telling me it was 'ulnar neuropathy.' But then upon further clinical testing the following month, he sent me to a neuromuscular specialist who made the formal diagnosis in January of this year. My diagnosing doctor said something similar to yours: curious to hear what your 2nd opinion doctor says, but I'm quite certain it's ALS, and therefore you should start with Riluzole. That's tough news to hear, but your timing does seem to indicate that you are, like me, on a course to progress slowly, which is a good thing.

I don't know about breastfeeding, but I can tell you that Riluzole has had almost no side effects for me. I say "almost" because my AST and ALT levels (relating to liver function) were elevated the first few months from Riluzole, but now they've settled down. I guess you should decide how important breastfeeding is for you. I'm not a doctor, so this is only a lay person's opinion, but. . . . For some mothers breastfeeding is an important bond with their newborn (in addition to the nutrients/immunities it provides). If that's you, I'd say do breastfeeding and take Riluzole later. The latter is not really a game changer for ALS - it has a small benefit for some people. It's certainly worth doing, but I can see how breastfeeding might be a higher priority, in the short term.

And. . . thanks to you, and your husband, for your service to our country.
 

jonico

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Kate, what EricInLA just shared with you is spot on. Others will speak better than me as to how likely it is that this is even ALS.

As someone who has had the privilege of caring for an amazingly strong pALS woman/wife/mother, I want to address this comment of yours: "I just hate that I'm going to be putting my husband and family through this and that my boys' childhood is going to be marred by doctors visits, medical equipment, hospice, etc."

Whatever this is, and it can still be many things, I am very confident that your Marine husband will do all it takes to care for you in every way the situation and diagnosis requires...and he will in fact ultimately be the better for it. And your boys, because of the the obvious love that dominates your family dynamic, will turn out just fine with both their Mom's and their Dad's loving support.

Take it one day at a time.

Thinking very much of you guys tonight...Jon
 
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Bestfriends14

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I'm so very sorry for this terrible piece of news. Please know that the folks here are knowledgeable and supportive. Please ask any questions you may have about what may be next for you, equipment etc. Hugs to you.

Joanna
 

lgelb

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I'm very sorry you have had to join us here, Kate.

That said, your boys, as Jon says, will be fine. The love and support you give each other and them will be expressed in a different context, but not diminished by ALS.

Best,
Laurie
 

KateMMA

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Thank you Nikki. It looks like there's a chance it could be in the milk and I wouldn't want to risk it.
 

KateMMA

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Hi Eric, we do have very similar cases. Do you know if there is any good information or threads about slow progressing ALS? Everything I see online is more about fast progressing ALS and it seems like clinical trials generally exclude slow progressing ALS.

I haven't checked yet; are there any slow progressing ALS threads on the forum? I'd like to have an idea of what I might be in for.

My son was born with a cleft lip and palate, so we haven't been able to nurse; I pump milk and we feed him with a bottle, so missing out on bonding isn't an issue. However, cleft babies are prone to ear infections and have at least two surgeries before one year, so we're highly encouraged to provide them with breast milk because of the benefits you mentioned.

I'm thinking I might wait on the riluzole, at least until after my son's second surgery which will be in a few months. Is there any data about riluzole and slow progressing ALS? Does it make a big difference?

Thanks for your support!
 

KateMMA

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Jon, thank you so much for your kind words. I'm so fortunate to have wonderful support in my husband, parents, siblings, and friends. Everyone has really come together and wrapped their (virtual) arms around us!

I'm so sorry to hear about your pALS, but she was lucky to have you.

Your thoughts and support are appreciated!
 

KateMMA

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Thank you Joanna, I'm definitely going to dig into the threads and learn as much as I can. I'm a planner, so I want to have an idea of what's next.
 

KateMMA

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Thank you Laurie, that's a good way of looking at it. It will definitely change the dynamic but we already appreciate each other and our time together more.
 

Nikki J

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lgelb

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There is one reported case in which a breastfeeding PALS on riluzole agreed to have her milk analyzed. It is the basis for the labeling that Nikki quoted. The dose to the infant was low, but we don't know what a "safe dose" is. I have also requested the full text in case there was followup not shown in the abstract.

The riluzole data (disclosure: I worked for the original mfr) can be viewed many ways since the standard of care for ALS has shifted. A recent re-analysis of the registration trial data quibbled about whether "Stage 4" (the last) should be defined as a FVC of 70% or 80%. That was the early 90s. Many now live for years at those levels, when BiPAP is used optimally.

Arguably, riluzole extends life most near the end, if at all (there are many confounds in retrospective studies that are more optimistic) so I would not worry that you are missing out by delaying it a few months, if that's how you go.

If you use the search icon top right, you can search on slow progression, etc. and I expect more slow progressors will chime in.
 

JimInVA

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Kate,

I'm sorry to have to welcome you here... but welcome nonetheless. My wife's first indication that something was wrong was in Nov 2012. She had difficulty walking several blocks to meet friends at a restaurant before a concert. Later, after the concert, she was unable to get up from a sitting position by herself.

In April of 2013, she was diagnosed (incorrectly) with CIDP... PRIMARILY because her symptoms of weakness were not symmetrical. When she asked that neurologist if she might have ALS, he said that ALS largely presents with symmetrical weakness. In the spring of 2014, a neurologist with Johns Hopkins changed her diagnosis to ALS and immediately started her on Riluzole.

In March of 2015, her then local neurologist informed her that he believed she had no more than about 6 months left to live (based primarily on her breathing measurements). At one month shy of 8 full years with ALS, Darcey coordinated with her Hospice Team to move from this life and on to the next. She passed away peacefully... and on her own terms... last month.

My point is that no one really seemed to have a definite idea as to what her life expectancy would really be. Personally, I believe that her ever positive mindset is what most influenced her longevity. She elected to always take joy in what she could still do rather than to bemoan what she had lost.

We have two grown children (now 31 and 34). As a family, we maintained excellent lines of communication between all of us as to what was going on from the very first indications of a problem. We had no secrets and our children never felt in the dark about any aspect of her ALS. While diagnosed with CIDP, we put life on hold waiting for her to get better. After the diagnosis of ALS, we got back to living again. She squeezed every bit of good out of every day that she had left with us. I firmly believe we became much closer as a family, loved more deeply than we had previously and are now mentally more healthy as we move forward without this much loved and admired wife, mother and friend.

My best...

Jim
 

KimT

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Hi Kate,

The good news is, so far, you have progressed very slowly.

I decided not to take Riluzole because I wanted a strong liver and it took quite a while for me to get a second and third opinion. Hopkins sort of pushed me into taking Riluzole but I listened to my gut and, I think, that's what you need to do.

You're young and my only recommendation to you is that you have comprehensive blood work and correct any deficiencies you might have. I had high free copper, which is common in ALS. I was also very low in Iron and Vitamin D. There were some other Vitamins that were out of the normal range but it's possible to correct these things. Taking good care of your general health, including dental, is a good thing.

Thank you and your husband for your service. Your kids will do fine.

There are a bunch of Facebook groups that might be of interest to you.

We are all here for you.

Take care,
Kim
 
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